778979	291	G6PD	Georgia	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778978	{22293322,7803800}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778711	291	G6PD	Hechi	II/Deficient	II/Deficient	\N	\N	778710	{22293322,17018380}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778823	291	G6PD	Mexico City	III/Deficient	III/Deficient	\N	\N	778822	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00018234865, "European": 0.000040952138, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778021	335	CYP2D6	*44	\N	No function	\N	0.0	778020	{15618746}	Limited	\N	CYP2D6*44 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*44 was identified in a subject with CYP2D6 *2/*44 genotype demonstrating decreased dextromethorphan metabolism compared to CYP2D6 *1/*2 subjects (15618746). CYP2D6*44 is defined by a splicing defect yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00041258382, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778097	335	CYP2D6	*89	\N	Uncertain function	\N	n/a	778096	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*89 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*89 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778117	335	CYP2D6	*99	\N	No function	\N	0.0	778116	{29327975}	Limited	\N	CYP2D6*99 is assigned no function based on limited evidence. CYP2D6*99 has been described in a subject with CYP2D6*5/*99 genotype demonstrating markedly decreased metabolism compared to wildtype with dextromethorphan and venlafaxine substrates (29327975). CYP2D6*99 is defined by the same SNPs as CYP2D6*10 in addition to a SNP resulting in an amino acid substitution which disrupts enzyme activity yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
1103378	241	CYP2D6	*146	\N	Uncertain function	\N	n/a	1103377	{}	Inadequate	\N	CYP2D6*146 is assigned uncertain function. CYP2D6*146 is defined by three SNPs all of which have been found in other star alleles; none of these SNPs have been implicated to cause no function; two are the defining SNPs of the normal function *2 allele and one is the defining SNP of uncertain function *43 allele. Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778169	334	CYP2D6	*125	\N	Unknown function	\N	n/a	778168	{}	No Evidence	\N	CYP2D6*125 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.003, "African American/Afro-Caribbean": 0.003}	f
778179	334	CYP2D6	*130	\N	Uncertain function	\N	n/a	778178	{32759992}	Inadequate	\N	CYP2D6*130 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 3.2% compared to *1 for tamoxifen N-desmethylation; no activity was detectable for dextromethorphan O-demethylation (32759992). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3827873	112	MT-RNR1	m.663A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827872	{8414970,7689389,7550368}	Inadequate evidence	\N	MT-RNR1 663A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. This variant has been identified in individuals with aminoglycoside-induced hearing loss but also in controls after aminoglycoside exposure (8414970, 7689389, 7550368). Therefore, consensus among experts is that there is uncertain risk of aminoglycoside-induced hearing loss associated with this variant.	{"European": 0.0014543316, "East Asian": 0.04993, "Near Eastern": 0.0, "Central/South Asian": 0.003349, "Sub-Saharan African": null}	f
777973	335	CYP2D6	*20	\N	No function	\N	0.0	777972	{10471072}	Limited	\N	CYP2D6*20 is assigned no function based on limited evidence. CYP2D6*20 was identified in a liver sample with decreased protein expression and decreased metoprolol metabolism (10471072). CYP2D6*20 is defined by a base insertion resulting in a frameshift and premature stop codon, yielding a truncated and nonfunctional enzyme. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.00011437685, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777999	335	CYP2D6	*33	\N	Normal function	\N	1.0	777998	{9241659,24647041,30366777}	Limited	\N	CYP2D6*33 is assigned normal function based on limited evidence. CYP2D6*33 was first described in a subject with CYP2D6 *5/*33 genotype demonstrating similar sparteine metabolism compared to CYP2D6 *1/*5 and CYP2D6 *2/*5 subjects, indicating normal enzyme activity (9241659). In vitro studies similarly found CYP2D6*33 had normal enzyme activity and similar intrinsic clearance compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": 0.0022216009, "European": 0.009507331, "Oceanian": null, "East Asian": 0.00021425438, "Near Eastern": 0.0, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
3685407	130	RYR1	c.1202G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685406	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685439	130	RYR1	c.1615T>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685438	{35849058}	\N	\N	PS4_Mod, PM1, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685657	130	RYR1	c.7310C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685656	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
777955	335	CYP2D6	*10	\N	Decreased function	\N	0.25	777954	{8764380,11266079,18784265,8287064,24647041,25469868,26310775,26542054,26652007,26937172,26968424,27203132,27251229,27354764,27538917,19364831,30366777,31647186}	Strong	\N	CYP2D6*10 is assigned decreased function based on strong evidence. CYP2D6*10 has consistently been described in subjects demonstrating decreased metabolism of various CYP2D6 substrates, with metabolic ratios greater than those observed in wildtype subjects but less than poor metabolizers (8764380, 8287064, 19364831). In vitro studies using different cell systems similarly found CYP2D6*10 demonstrates decreased intrinsic clearance compared to wildtype with various substrates (27538917, 27354764, 27251229, 27203132, 26968424, 26937172, 26652007, 26542054, 26310775, 25469868, 30366777, 24647041, 11266079, 18784265). As part of the standardization of CYP2D6 genotype to phenotype translation among CPIC and the Dutch Pharmacogenetics Working Group, CYP2D6*10 was reevaluated as the evidence suggests the activity of the CYP2D6*10 is considerably lower compared to other decreased function alleles and the activity value of 0.5 (previously assigned) may overestimate metabolic capacity of patients with this allele (31647186). Therefore, consensus among experts was decreased function with an activity value of 0.25 based on strong evidence.	{"Latino": 0.026291614, "American": 0.014500251, "European": 0.01571283, "Oceanian": 0.05713253, "East Asian": 0.4284454, "Near Eastern": 0.06769364, "Central/South Asian": 0.07559443, "Sub-Saharan African": 0.048626088, "African American/Afro-Caribbean": 0.038160447}	f
779712	278	CYP2D6	*17x2	\N	Normal function	\N	1.0	777966	{8764380,8971426,11823760}	Limited	\N	CYP2D6*17x2 is assigned normal function based on limited evidence. CYP2D6*17 is assigned decreased function based on subjects demonstrating decreased enzyme activity with various substrates (8764380, 8971426, 11823760). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater enzyme activity than that of the nonduplicated allele and be clinically similar to phenotypes comprising normal function alleles.	{"Latino": 0.008826584, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002, "African American/Afro-Caribbean": 0.0019977347}	f
3685511	130	RYR1	c.5183C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685510	{33767344}	\N	\N	PS4, PP1_St, BP4	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685769	130	RYR1	c.10042C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685768	{33767344}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.0001617, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002412}	f
3685599	130	RYR1	c.7035C>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685598	{35849058}	\N	\N	PS3_Mod, PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
778149	334	CYP2D6	*115	\N	Unknown function	\N	n/a	778148	{}	No Evidence	\N	CYP2D6*115 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2091243	239	CYP2D6	*155	\N	Unknown function	\N	n/a	2091242	{}	No Evidence	\N	CYP2D6*155 is assigned unknown function due to no literature describing function of this allele. CYP2D6*155 is defined by the five SNPs defining the decreased function *29 allele and one additional SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00104, "African American/Afro-Caribbean": null}	f
2091247	239	CYP2D6	*157	\N	Unknown function	\N	n/a	2091246	{}	No Evidence	\N	CYP2D6*157 is assigned unknown function due to no literature describing function of this allele. CYP2D6*157 is defined by the five SNPs defining the decreased function *29 allele and one additional SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
779294	318	SLCO1B1	*9	\N	No function	\N	\N	779293	{11477075,12490595,16697742,16513443}	Limited	\N	SLCO1B1*9 is assigned no function based on in vitro studies demonstrating reduced uptake of estrone sulfate, estradiol 17beta-d-glucuronide, rifampin, rosuvastatin and atrasentan (11477075, 12490595, 16697742, 16513443) but normal protein expression (33658230). One clinical study of 1 heterozygous carrier of *31 (has same G488A variant) showed markedly decreased high-dose methotrexate clearance compared to wildtype, slower than a *5/*5 patient (22147369). Therefore, consensus among experts was no function due to limited evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779298	317	SLCO1B1	*11	\N	Uncertain function	\N	\N	779297	{11477075,12490595}	Inadequate	\N	SLCO1B1*11 is assigned uncertain function based on in vitro studies demonstrating reduced uptake of rifampin (12490595), but not of estrone sulfate or estradiol 17beta-d-glucuronide (11477075) and no clinical data. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777991	335	CYP2D6	*29	\N	Decreased function	\N	0.5	777990	{11470994,11823760,24647041,30366777}	Moderate	\N	CYP2D6*29 is assigned decreased function based on moderate evidence in homozygous subjects and in vitro studies. Three subjects with CYP2D6*29/*29 genotype demonstrated decreased metabolism compared to CYP2D6*1/*29 subjects with a debrisoquine substrate (11470994). Similarly, four subjects with CYP2D6*29/*29 genotype demonstrated decreased metabolism compared to wildtype with dextromethorphan and metoprolol substrates (11823760). Multiple in vitro studies found CYP2D6*29 had decreased enzyme activity compared to wildtype with various substrates (11470994, 24647041, 30366777). Although one study found subjects with CYP2D6*29/*29 genotype demonstrated similar metabolism compared to wildtype with debrisoquine and codeine substrates (11823760) the experts did not find this result convincing due to the small sample size. Therefore, consensus among experts with decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": 0.0152478125, "American": 0.0020174354, "European": 0.0010464214, "Oceanian": 0.0, "East Asian": 0.000097904944, "Near Eastern": 0.0077560195, "Central/South Asian": 0.0016065163, "Sub-Saharan African": 0.10825595, "African American/Afro-Caribbean": 0.08743822}	f
778033	335	CYP2D6	*50	\N	Decreased function	\N	0.5	778032	{18784265,24647041,30366777}	Limited	\N	CYP2D6*50 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2D6*50 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00039791822, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
2091257	239	CYP2D6	*162	\N	Uncertain function	\N	n/a	2091256	{}	Inadequate	\N	CYP2D6*162 is assigned uncertain function based on inadequate evidence. CYP2D6*162 is defined by the two SNPs defining the normal function *2 allele and the SNP defining the normal function *27 allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
777352	207	CFTR	G551S	\N	ivacaftor responsive	\N	\N	777351	{}	\N	\N	\N	\N	f
777354	207	CFTR	K1060T	\N	ivacaftor responsive	\N	\N	777353	{}	\N	\N	\N	\N	f
777360	207	CFTR	R1070Q	\N	ivacaftor responsive	\N	\N	777359	{}	\N	\N	\N	\N	f
777362	207	CFTR	R1070W	\N	ivacaftor responsive	\N	\N	777361	{}	\N	\N	\N	\N	f
777380	207	CFTR	S549R(A>C)	\N	ivacaftor responsive	\N	\N	777379	{}	\N	\N	\N	\N	f
778011	335	CYP2D6	*39	\N	Normal function	\N	1.0	778010	{18784265,11266079,24647041,30366777}	Limited	\N	CYP2D6*39 is assigned normal function based on limited evidence. A liver microsomes sample of a subject with CYP2D6 *10/*39 genotype demonstrated similar enzyme activity compared to wildtype with a bufuralol substrate (11266079). Similarly, in vitro studies found CYP2D6*39 demonstrated similar enzyme activity compared to wildtype with bufuralol, dextromethorphan, and tamoxifen substrates (18784265, 24647041). Although one in vitro study found CYP2D6*39 demonstrated decreased clearance compared to wildtype with a primaquine substrate (30366777) the experts did not find this result convincing as CYP2D6*39 demonstrated similar activity compared to wildtype towards a majority of substrates. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": 0.008, "American": 0.001, "European": 0.014010031, "Oceanian": 0.0063141957, "East Asian": 0.0056442493, "Near Eastern": 0.026844444, "Central/South Asian": 0.0033921853, "Sub-Saharan African": 0.00080620806, "African American/Afro-Caribbean": 0.020066908}	f
778111	335	CYP2D6	*96	\N	No function	\N	0.0	778110	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Limited	\N	CYP2D6*96 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2D6*96 had nondetectable enzyme with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). CYP2D6*96 is defined by an early stop codon yielding a truncated nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778119	335	CYP2D6	*100	\N	No function	\N	0.0	778118	{23394389}	Limited	\N	CYP2D6*100 is assigned no function based on limited evidence. CYP2D6*100 has been described in a subject with CYP2D6*5/*100 genotype demonstrating markedly decreased dextromethorphan metabolism compared to wildtype (23394389). CYP2D6*100 is defined by the same SNPs as CYP2D6*10 in addition to a base pair deletion resulting in a frameshift yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.003, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
778139	334	CYP2D6	*110	\N	Uncertain function	\N	n/a	778138	{31368850}	Inadequate	\N	CYP2D6*110 is assigned uncertain function. CYP2D6*110 is defined by a SNP which in silico studies predict to be a deleterious amino acid change (31368850). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778183	334	CYP2D6	*132	\N	Decreased function	\N	0.25	778182	{32759992}	Limited	\N	CYP2D6*132 is assigned decreased function with an activity value of 0.25 due to limited literature describing function of this allele. One in vitro study demonstrated substantially decreased intrinsic clearance CLint (Vmax/Km) of 3.8% and 0.5% compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively (32759992). The allele contains 100C>T and 4181G>C (present in *10) and 2819A>G. There are no data describing the consequence of 2819A>G; however, based on the function of *10 and the in vivo study, consensus among experts was decreased function due to limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777312	207	CFTR	3272-26A->G	\N	ivacaftor responsive	\N	\N	777311	{}	\N	\N	\N	\N	f
777314	207	CFTR	3849+10kbC->T	\N	ivacaftor responsive	\N	\N	777313	{}	\N	ACMG screening panel	\N	\N	f
777318	207	CFTR	A1067T	\N	ivacaftor responsive	\N	\N	777317	{}	\N	\N	\N	\N	f
777320	207	CFTR	A455E	\N	ivacaftor responsive	\N	\N	777319	{}	\N	ACMG screening panel	\N	\N	f
777326	207	CFTR	D1152H	\N	ivacaftor responsive	\N	\N	777325	{}	\N	\N	\N	\N	f
777328	207	CFTR	D1270N	\N	ivacaftor responsive	\N	\N	777327	{}	\N	\N	\N	\N	f
777330	207	CFTR	D579G	\N	ivacaftor responsive	\N	\N	777329	{}	\N	\N	\N	\N	f
777336	207	CFTR	E831X	\N	ivacaftor responsive	\N	\N	777335	{}	\N	\N	\N	\N	f
777338	207	CFTR	F1052V	\N	ivacaftor responsive	\N	\N	777337	{}	\N	\N	\N	\N	f
777340	207	CFTR	F1074L	\N	ivacaftor responsive	\N	\N	777339	{}	\N	\N	\N	\N	f
777342	207	CFTR	G1069R	\N	ivacaftor responsive	\N	\N	777341	{}	\N	\N	\N	\N	f
777344	207	CFTR	G1244E	\N	ivacaftor responsive	\N	\N	777343	{}	\N	\N	\N	\N	f
777346	207	CFTR	G1349D	\N	ivacaftor responsive	\N	\N	777345	{}	\N	\N	\N	\N	f
777350	207	CFTR	G551D	\N	ivacaftor responsive	\N	\N	777349	{}	\N	ACMG screening panel	\N	\N	f
778013	335	CYP2D6	*40	\N	No function	\N	0.0	778012	{12152006,12811367,24647041,30366777}	Moderate	\N	CYP2D6*40 is assigned no function based on moderate evidence in heterozygous subjects and in vitro studies. CYP2D6*40 is defined by an 18 base pair insertion. CYP2D6*40 has been described in subjects with CYP2D6 *4/*40, CYP2D6 *6/*40, and CYP2D6 *40/*42 genotype demonstrating poor metabolism with a dextromethorphan substrate (12152006, 12811367). Multiple in vitro studies found CYP2D6*40 had nondetectable enzyme activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": null, "American": 0.0, "European": 0.00069944287, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.013845487, "African American/Afro-Caribbean": 0.004642406}	f
779740	278	CYP2D6	*41x2	\N	Decreased function	\N	0.5	778014	{11037799,15289790,17001295,17112815,19364831}	Limited	\N	CYP2D6*41x2 is assigned decreased function based on limited evidence. CYP2D6*41 is assigned decreased function based on decreased protein expression and enzyme activity (11037799, 15289790, 17112815, 19364831, 17001295). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater protein expression and enzyme activity than that of the nonduplicated allele and be clinically similar to phenotypes comprising decreased function alleles.	{"Latino": 0.00008218229, "American": 0.0, "European": 0.00033715033, "Oceanian": 0.0, "East Asian": 0.00022746579, "Near Eastern": 0.004381261, "Central/South Asian": 0.00049214147, "Sub-Saharan African": 0.00042204256, "African American/Afro-Caribbean": 0.00059508317}	f
778071	335	CYP2D6	*71	\N	Uncertain function	\N	n/a	778070	{24647041,30366777}	Inadequate	\N	CYP2D6*71 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*71 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": 0.042666666, "East Asian": 0.0020697587, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778077	334	CYP2D6	*74	\N	Unknown function	\N	n/a	778076	{}	No Evidence	\N	CYP2D6*74 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0013710798, "African American/Afro-Caribbean": 0.0}	f
778141	334	CYP2D6	*111	\N	Uncertain function	\N	n/a	778140	{31368850}	Inadequate	\N	CYP2D6*111 is assigned uncertain function. CYP2D6*111 is defined by a SNP which in silico studies predict to be a deleterious amino acid change (31368850). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.004, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.008, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778195	335	CYP2D6	*138	\N	Uncertain function	\N	n/a	778194	{31536170}	Inadequate	\N	CYP2D6*138 is assigned uncertain function due to inadequate evidence. CYP2D6*138 is defined by a splice defect known to decrease activity and an amino acid substitution which an in vitro study found to increase activity compared to *1 when expressed on its own (31536170). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2091241	239	CYP2D6	*154	\N	Uncertain function	\N	n/a	2091240	{}	Inadequate	\N	CYP2D6*154 is assigned uncertain function due to inadequate evidence. CYP2D6*154 is defined by the three SNPs defining the decreased function *17 allele and one additional SNP that defines *75 which is classified as uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
777437	339	CYP2B6	*8	No function	No function	\N	\N	777436	{14551287,15190123,20517174,21659470,21746968,30201214}	Limited	\N	CYP2B6*8 (c.415A>G, p.K139E) - No function: CYP2B6*8 is assigned no function. Multiple in vitro studies using human liver microsomes (14551287) and cDNA expression systems (15190123, 20517174, 21659470, 21746968, 30201214) found that CYP2B6*8 had no enzyme activity compared to the *1 reference with various substrates. Therefore, consensus among experts was no function based on limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779699	278	CYP2D6	*6x2	\N	No function	\N	0.0	777946	{7894499,7951238}	Limited	\N	CYP2D6*6x2 is assigned no function based on limited evidence. CYP2D6*6 is defined by a single nucleotide deletion resulting in a frameshift and premature stop codon yielding a truncated and nonfunctional protein (7894499). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would be clinically similar to phenotypes comprising the nonduplicated allele.	{"Latino": 0.00011035591, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.000067795685}	f
777989	335	CYP2D6	*28	\N	Uncertain function	\N	n/a	777988	{24647041,30366777}	Inadequate	\N	CYP2D6*28 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*28 demonstrated enzyme activity ranging from nondetectable to similar activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": 0.0009319079, "European": 0.004213198, "Oceanian": null, "East Asian": 0.00021425438, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778073	335	CYP2D6	*72	\N	Uncertain function	\N	n/a	778072	{19158312,24647041,30366777}	Inadequate	\N	CYP2D6*72 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*72 demonstrated decreased enzyme activity compared to wildtype with various substrates (19158312, 24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778113	335	CYP2D6	*97	\N	Uncertain function	\N	n/a	778112	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*97 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*97 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778151	334	CYP2D6	*116	\N	Unknown function	\N	n/a	778150	{}	No Evidence	\N	CYP2D6*116 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778109	335	CYP2D6	*95	\N	Uncertain function	\N	n/a	778108	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*95 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*95 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778187	334	CYP2D6	*134	\N	Uncertain function	\N	n/a	778186	{32759992}	Inadequate	\N	CYP2D6*134 is assigned uncertain function due to inadequate literature describing function of this allele. One in vitro study demonstrated intrinsic clearance CLint (Vmax/Km) of 104.5% and 81.2 % compared to *1 for tamoxifen N-desmethylation and dextromethorphan O-demethylation, respectively, suggesting normal activity (32759992). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777469	338	CYP2B6	*25	\N	Uncertain function	\N	\N	777468	{20517174,21746968,30201214}	Inadequate	\N	CYP2B6*25 (c.1454A>T, p.Q485L) – Uncertain function: CYP2B6*25 is assigned uncertain function. In vitro studies using cDNA expression systems showed no significant changes in enzyme activity and/or protein expression compared to the *1 reference (20517174, 21746968, 30201214). However, there were no in vivo data available or data in human liver microsomes. Therefore, consensus among experts was uncertain function based on inadequate evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779688	282	CYP2D6	*1x2	\N	Increased function	\N	2.0	777936	{7616439,9012401}	Limited	\N	CYP2D6*1x2 is assigned increased function based on limited evidence. Subjects with CYP2D6 gene duplications demonstrated increased enzyme activity with the greatest debrisoquine metabolism among 270 subjects based on urine metabolites (7616439). Additionally, debrisoquine metabolism correlated with the number of functional CYP2D6 genes (7616439, 9012401). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.015091962, "American": 0.025994705, "European": 0.008242789, "Oceanian": 0.118886255, "East Asian": 0.0033543645, "Near Eastern": 0.031482305, "Central/South Asian": 0.005793713, "Sub-Saharan African": 0.0057788896, "African American/Afro-Caribbean": 0.007974796}	f
2899155	128	CYP2B6	*45	\N	Uncertain function	\N	\N	2899154	{38596098}	Inadequate	\N	CYP2B6*45 (c.547G>A, p.V183I) – Uncertain function: CYP2B6*45 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.V183I using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777987	335	CYP2D6	*27	\N	Normal function	\N	1.0	777986	{18784265,18838503,24647041,30366777}	Limited	\N	CYP2D6*27 is assigned normal function based on limited evidence. Multiple in vitro studies found CYP2D6*27 demonstrated similar activity compared to wildtype with various substrates (18784265, 18838503). Although some in vitro studies found CYP2D6*27 demonstrated modestly decreased activity it was not convincing the magnitude of decreased activity was clinically significant (24647041, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": 0.003, "European": 0.0, "Oceanian": null, "East Asian": 0.00056961953, "Near Eastern": 0.007, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0033542388, "African American/Afro-Caribbean": 0.003}	f
778003	335	CYP2D6	*35	\N	Normal function	\N	1.0	778002	{9241659,12766015,21833166,24647041,30366777}	Moderate	\N	CYP2D6*35 is assigned normal function based on moderate evidence in heterozygous subjects. CYP2D6*35 was first identified in a subject with CYP2D6*5/*35 genotype demonstrating similar dextromethorphan metabolism compared to CYP2D6 *1/*5 subjects, indicating normal function of the CYP2D6*35 allele (9241659). Similarly, a subject with CYP2D6*4/*35 genotype demonstrated decreased dextromethorphan metabolism compared to wildtype subjects (21833166). Additionally, a study of 396 subjects found the -1584C>G substitution, which is found in CYP2D6*35 and other normal function alleles such as CYP2D6*2, was not observed in any subject demonstrating poor dextromethorphan metabolism, indicating normal function of the CYP2D6*35 allele (12766015). Although two in vitro studies found CYP2D6*35 had decreased enzyme activity compared to wildtype (24647041, 30366777), experts did not find these results convincing as the expression system may not be reflective of in vivo environment as demonstrated by the numerous subjects carrying the CYP2D6*35 allele with substrate metabolism similar to that of wildtype as described previously. Therefore, consensus among experts was normal function with an activity value of 1 based on moderate evidence.	{"Latino": 0.026583293, "American": 0.011335291, "European": 0.05468046, "Oceanian": 0.003691906, "East Asian": 0.0005036332, "Near Eastern": 0.022185262, "Central/South Asian": 0.008267974, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.008867127}	f
778023	335	CYP2D6	*45	\N	Normal function	\N	1.0	778022	{15768052,24647041,30366777}	Limited	\N	CYP2D6*45 is assigned normal function based on limited evidence. Subjects with CYP2D6 *5/*45 genotype demonstrated similar dextromethorphan metabolism compared to wildtype subjects (15768052). In vitro studies found CYP2D6*45 demonstrated similar activity compared to wildtype with dextromethorphan and bufuralol substrates (15768052, 24647041). Although one in vitro study found CYP2D6*45 demonstrated decreased clearance compared to wildtype with a primaquine substrate (30366777) the experts did not find this result convincing as CYP2D6*45 demonstrated similar activity compared to wildtype towards a majority of substrates as well as in vivo. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": null, "American": 0.003, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.038135953, "African American/Afro-Caribbean": 0.05011446}	f
6483096	2	CYP2D6	*13+*1x2	\N	Increased function	\N	2.0	6483094	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899163	128	CYP2B6	*49	\N	Uncertain function	\N	\N	2899162	{38596098}	Inadequate	\N	CYP2B6*49 (c.1301G>A, p.R434Q) – Uncertain function: CYP2B6*49 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.R434Q using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483095	2	CYP2D6	*13+*1	\N	Normal function	\N	1.0	6483094	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483098	2	CYP2D6	*13+*2	\N	Normal function	\N	1.0	6483097	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483100	2	CYP2D6	*13+*68x2+*4	\N	No function	\N	0.0	6483099	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483093	2	CYP2D6	*36+*10	\N	Decreased function	\N	0.25	6483092	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483103	2	CYP2D6	*36+*10x2	\N	Decreased function	\N	0.5	6483092	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483102	2	CYP2D6	*36x2+*10	\N	Decreased function	\N	0.25	6483101	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483106	2	CYP2D6	*36x2+*10x2	\N	Decreased function	\N	0.5	6483101	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483091	2	CYP2D6	*68+*4	\N	No function	\N	0.0	6483090	{}	\N	\N	\N	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778945	291	G6PD	Krakow	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778944	{22293322,18066402}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779027	291	G6PD	Laibin	Uncertain	Uncertain function	\N	\N	779026	{22293322,17018380}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778879	291	G6PD	Ludhiana	II/Deficient	II/Deficient	\N	\N	778878	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778825	291	G6PD	North Dallas	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778824	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
777433	339	CYP2B6	*6	Decreased function	Decreased function	\N	\N	777432	{12642465,14551287,15194512,16338275,17178267,17235330,17329992,17559344,18171905,21659470,22232427,23080225,23344581,23550066,24260284,25456329,25565674,26389554,26655325,27799204,28723731,29756345,30201214,32238417,32302325,34752647,35538637}	Strong	\N	CYP2B6*6 (c.516G>T, p.Q172H/splice defect and c.785A>G, p.K262R) - Decreased function: CYP2B6*6 is assigned decreased function based on in vivo (homozygous and heterozygous patients) and in vitro studies. Significantly lower protein expression and activity was found in human liver microsomes, and increased plasma exposure of CYP2B6 substrates was found in healthy volunteers and patients. In a panel of 87 human liver microsome samples, the CYP2B6*6 allele was associated with significantly decreased protein expression and activity, measured by bupropion 4-hydroxylation and efavirenz 8-hydroxylation (17559344). The mechanism was predominantly aberrant splicing caused by c.516G>T (but not c.785A>G) leading to reduced content of functional mRNA, protein, and activity (14551287, 18171905, 24260284). Multiple in vitro studies using human liver microsomes (17559344, 22232427, (23550066) and cDNA expression systems (21659470, 32238417, 35538637) found that CYP2B6*6 has decreased enzyme activity and metabolism of efavirenz, bupropion, methadone and ketamine. Although two other in vitro studies using cDNA expression systems found increased activity (12642465, 30201214), the experts did not find these results convincing. This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that CYP2B6*6 carriers had higher efavirenz concentrations compared to the *1 reference (e.g., 15194512, 17235330, 27799204). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months similarly found that CYP2B6*6 was associated with greater long term efavirenz exposure (26655325). Other studies using c.516G>T as a tagSNP for CYP2B6*6 (15622315) showed that G/T and T/T genotypes (compared to G/G) were associated with significantly higher efavirenz plasma exposure during HIV therapy. Several studies found that plasma exposure of the active bupropion metabolite hydroxybupropion was less in CYP2B6*6 carriers than in the *1 reference, although bupropion concentration and clearance were unchanged (23344581, 25565674, 29756345, 34752647). Multiple clinical studies of methadone, evaluating metabolism and/or clearance, have shown that methadone plasma exposure (S- more than R-) is greater and/or metabolism and clearance is less in CYP2B6*6 carriers compared to the *1 reference (16338275, 17178267, 17329992, 25456329, 26389554, 28723731, 32302325 ). Therefore, consensus among experts was decreased function based on strong evidence.	{"Latino": 0.21163164, "European": 0.23297834, "Oceanian": 0.62, "East Asian": 0.17446446, "Near Eastern": 0.231, "Central/South Asian": 0.185, "Sub-Saharan African": 0.37487158, "African American/Afro-Caribbean": 0.31696695}	f
5997309	10	CYP2B6	*50	\N	\N	\N	\N	5997308	\N	\N	\N	\N	\N	f
778781	293	G6PD	Taipei, Chinese-3	II/Deficient	II/Deficient	\N	\N	778780	{22293322,1562739}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0008090069, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778899	291	G6PD	Torun	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778898	{22293322,10571945}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778787	291	G6PD	Volendam	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778786	{22293322,10556177}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778985	291	G6PD	Mediterranean Haplotype	II/Deficient	II/Deficient	\N	\N	778984	{22293322,1978554}	Inadequate	\N	Based on function of the 563T variant, present in the Mediterranean, Dallas, Panama‚ Sassari, Cagliari, Birmingham, function was assigned as WHO class II (22293322, 1978554).	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779097	113	NUDT15	*17	\N	\N	\N	\N	779096	\N	\N	\N	\N	\N	f
778999	291	G6PD	Harima	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778998	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778997	291	G6PD	Hermoupolis	II/Deficient	II/Deficient	\N	\N	778996	{22293322,10782016}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778907	291	G6PD	Ierapetra	II/Deficient	II/Deficient	\N	\N	778906	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778861	291	G6PD	Mizushima	II/Deficient	II/Deficient	\N	\N	778860	{22293322,7705842}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778883	291	G6PD	Nara	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778882	{22293322,8241497}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778949	291	G6PD	Nashville, Anaheim, Portici	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778948	{22293322,16934959,1999409,1536798}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778921	291	G6PD	Montpellier	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778920	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000027188444, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778669	291	G6PD	No name	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778668	{22293322,32387609,21446359}	Inadequate	\N	Function assigned based on evidence supporting complete loss of enzyme activity (32387609)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
777459	339	CYP2B6	*20	Decreased function	Decreased function	\N	\N	777458	{16272958,21746968,30201214,18171905,24260284}	Limited	\N	CYP2B6*20 (c.503C>T, p.T168I; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*20 is assigned decreased function. CYP2B6*20 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). Three in vitro studies using cDNA expression systems found decreased enzyme activity of CYP2B6*20 compared to the *1 reference with various substrates (16272958, 21746968, 30201214). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.016, "African American/Afro-Caribbean": 0.0}	f
777487	339	CYP2B6	*34	Decreased function	Decreased function	\N	\N	777486	{23418033,30201214,18171905,24260284}	Limited	\N	CYP2B6*34 (c.-82T>C, c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1459C>A, p.R487S) – Decreased function: CYP2B6*34 is assigned decreased function. CYP2B6*34 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information) (23418033). Although one in vitro study using a cDNA expression system found that CYP2B6*34 demonstrated increased enzyme activity compared to the *1 reference (30201214), the experts did not find these results convincing as it has previously been shown that in vitro expression systems may not adequately reflect CYP2B6*6 expression and function, and therefore also not be a suitable system to assess CYP2B6*34. As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778971	291	G6PD	Japan, Shinagawa	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778970	{22293322,8193373,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778933	291	G6PD	Madrid	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778932	{22293322,9332310}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778877	291	G6PD	Omiya	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778876	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
777559	339	CYP2C19	*14	\N	Uncertain function	\N	\N	777558	{21325430,25001882,21692664}	Inadequate	\N	CYP2C19*14 is assigned uncertain function due to inadequate evidence. CYP2C19*14 demonstrated similar enzyme activity compared to wildtype with mephenytoin, omeprazole, and other substrates (21325430, 21692664). In a separate in vitro study CYP2C19*14 demonstrated decreased activity compared to wildtype with mephenytoin and clopidogrel substrates (25001882). Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0001145213, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778955	291	G6PD	Puerto Limon	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778954	{22293322,7160841}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779029	291	G6PD	Split	III/Deficient	III/Deficient	\N	\N	779028	{22293322,16143877}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778765	291	G6PD	Valladolid	II/Deficient	II/Deficient	\N	\N	778764	{22293322,9332310}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778905	291	G6PD	Partenope	II/Deficient	II/Deficient	\N	\N	778904	{22293322}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778981	291	G6PD	Surabaya	II/Deficient	II/Deficient	\N	\N	778980	{22293322,11499668}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.000036485697, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778977	291	G6PD	Tokyo, Fukushima	I-II/Deficient with CNSHA-Deficient	I/Deficient with CNSHA	\N	\N	778976	{22293322,28028996,7440223,9192788,1733837}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778893	291	G6PD	Villeurbanne	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778892	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779103	113	NUDT15	*20	\N	\N	\N	\N	779102	\N	\N	\N	\N	\N	f
777561	339	CYP2C19	*15	\N	Normal function	\N	\N	777560	{21325430,25001882}	Limited	\N	CYP2C19*15 is assigned normal function based on limited evidence. Two in vitro studies using different cell systems found CYP2C19*15 demonstrated similar enzyme activity compared to wildtype with mephenytoin and omeprazole substrates (21325430, 25001882). Therefore, consensus among experts was normal function based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": 0.004, "American": null, "European": 0.002, "Oceanian": null, "East Asian": 0.0013589837, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.052882355, "African American/Afro-Caribbean": 0.014}	f
777573	339	CYP2C19	*23	\N	Uncertain function	\N	\N	777572	{25001882,27578295,30464555,31713493}	Inadequate	\N	CYP2C19*23 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*23 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (25001882, 27578295, 30464555, 31713493). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00056672905, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778937	291	G6PD	Guadalajara	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778936	{22293322,32387609,7129446}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778803	291	G6PD	Pedoplis-Ckaro	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778802	{22293322,18066402}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
5881977	12	NUDT15	*21	\N	\N	\N	\N	5881976	\N	\N	\N	\N	\N	f
777591	339	CYP2C19	*33	\N	Uncertain function	\N	\N	777590	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*33 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*33 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and voriconazole substrates (26153442, 30464555, 29098786). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00017527216, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3827883	112	MT-RNR1	m.807A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827882	{18830133}	Inadequate evidence	\N	MT-RNR1 807A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3827885	112	MT-RNR1	m.827A>G	\N	normal risk of aminoglycoside-induced hearing loss	\N	\N	3827884	{16782057,18261986,18830133,20353758}	Limited	\N	MT-RNR1 827A>G is assigned a normal risk of aminoglycoside-induced hearing loss based on limited evidence. There are weak evidence proposing an association with aminoglycoside-induced hearing loss (16782057, 18261986, 20353758). However, there is one study showing patients with 827A>G mutation with a history of exposure to aminoglycosides with normal hearing (18830133) and this variant has too high a population frequency in certain haplogroups to be classified as associated with aminoglycoside-induced hearing loss. Therefore, consensus among experts was this variant is associated with normal risk of aminoglycoside-induced hearing loss based on limited evidence.	{"European": 0.0017502992, "East Asian": 0.035319928, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0}	f
3827887	112	MT-RNR1	m.839A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827886	{21205314}	Inadequate evidence	\N	MT-RNR1 839A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (21205314). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.00006424638, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827919	112	MT-RNR1	m.1556C>T	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827918	{15141753}	Inadequate evidence	\N	MT-RNR1 1556C>T is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Case report of of a patient with streptomycin-induced tinnitus carrying this variant (15141753) . Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.000031612555, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
6481195	3	NAT2	*5	Slow	Decreased function	\N	\N	6481194	{9154882,8781741,28653770,8102597,30564082,15558239,7668286,1451720,10744128,22092036,1872889,8689813,20040334,17011540,22970273,16531626,15565348,9321764,9110365,31257615,29018032,24702251,24444407,15110095,27509179,11773863,20801937,16003747,21750470,9565293,9891107,24221535,8287065,27223070,8001235,8923605,10762005,8081359,35928262,28752039,17505821,21946899,16570187,15032315,18167504,17434923,33815485,18680467,19336229,15564878,7669073,11337936}	Definitive	\N	NAT2*5 is assigned decreased function based on definitive evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*5 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". The functional SNV c.341T>C (p.I114T) in NAT2*5 has been studied for more than 25 years and has shown decreased N-acetylation activity in numerous clinical and in vitro studies using various substrates. Clinical studies have demonstrated that individuals homozygous for NAT2*5 or heterozygous for NAT2*5 in combination with another decreased function allele exhibit decreased acetylation activity toward caffeine metabolites (8102597, 7668286, 10744128, 9891107, 20801937, 22970273, 24221535, 28653770), isoniazid (9154882, 9321764, 19336229, 35928262) sulfonamides (1872889, 15032315, 16570187, 18167504, 21946899), and dapsone (10762005). Individuals homozygous for NAT2*5 or heterozygous for NAT2*5 in combination with another decreased function allele exhibit increased hydralazine exposure (24702251, 31257615). Five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) impairs protein function. In vitro studies show that NAT2*5 exhibits similar thermostability to NAT2*4, which was previously used as the reference allele (8081359, 15564878, 17434923, 11337936), however NAT2*5 is subjected to enhanced protein degradation by the proteasome (15564878), indicating decreased protein levels as the molecular mechanism for the decreased acetylation activity observed.	\N	f
6481197	3	NAT2	*6	Slow	Decreased function	\N	\N	6481196	{9154882,8781741,29589062,28653770,8102597,30564082,15558239,7668286,2376572,1451720,10744128,22092036,1872889,20040334,9333101,22970273,16531626,15565348,9321764,9110365,11214777,31257615,24702251,24444407,15110095,27509179,11773863,20801937,21750470,23899363,9565293,9891107,9682266,24221535,22105431,8287065,27223070,8001235,8923605,10762005,8081359,35928262,28752039,17505821,21946899,16570187,15032315,18167504,17434923,33815485,18680467,19336229,7669073,11337936,28516247}	Definitive	\N	NAT2*6 is assigned decreased function based on definitive evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*6 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*6 is characterized by the core SNVs c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. The functional SNV c.590G>A (p.R197Q) has been studied for more than 25 years and has shown decreased N-acetylation activity in numerous clinical and in vitro studies using various substrates. Clinical studies have demonstrated that individuals homozygous for NAT2*6 or heterozygous for NAT2*6 in combination with another decreased function allele exhibit decreased acetylation activity toward caffeine metabolites (8102597, 7668286, 9891107, 10744128, 20801937, 22970273, 24221535, 28653770), isoniazid (2376572, 9154882, 9321764, 19336229, 35928262), sulphonamides (1872889, 15032315, 16570187, 18167504, 21946899), and dapsone (10762005). Individuals homozygous for NAT2*6 or heterozygous for NAT2*6 in combination with another decreased function allele exhibit increased hydralazine exposure (24702251, 31257615). Seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. In vitro studies have shown that NAT2*6 exhibits decreased thermostability and decreased protein expression (11337936, 17434923, 8081359) as well as decreased acetylation toward various substrates (7669073, 33815485). Several studies indicate the existence of an ultra-slow acetylator phenotype in individuals homozygous for the NAT2*6 allele compared with other NAT2 decreased function alleles (29018032, 28653770, 24221535, 33815485, 7668286, 22970273, 28752039, 16570187, 28516247).	\N	f
6481199	3	NAT2	*7	Slow	Decreased function	\N	\N	6481198	{9154882,29589062,28653770,8102597,30564082,15558239,7668286,2376572,10744128,22092036,1872889,8689813,20040334,17011540,16531626,9321764,9110365,11214777,31257615,15110095,27509179,11773863,16003747,21750470,9565293,9891107,9682266,8287065,27223070,8001235,8923605,10762005,8081359,35928262,17505821,21946899,16570187,15032315,18167504,17434923,33815485,18680467,19336229,7669073,20801937,22970273,24221535,11337936}	Definitive	\N	NAT2*7 is assigned decreased function based on definitive evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*7 allele as "slow" and possibly substrate dependent. Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*7 is characterized by the core SNVs c.857G>A (p.G286E) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. The functional SNV c.857G>A (p.G286E) has been studied for more than 25 years and has shown decreased NAT2 N-acetylation activity in both clinical and in vitro studies using various substrates. Clinical studies have demonstrated that individuals homozygous for NAT2*7 or heterozygous for NAT2*7 in combination with another decreased function allele exhibit decreased acetylation activity toward caffeine metabolites (8102597, 7668286, 9891107, 10744128, 20801937, 22970273, 24221535, 28653770), isoniazid (2376572, 9154882, 9321764, 19336229, 35928262), and sulphonamides (1872889, 15032315, 16570187, 18167504, 21946899). Individuals homozygous for NAT2*7 or heterozygous for NAT2*7 in combination with another decreased function allele exhibit increased hydralazine exposure (24702251, 31257615). In vitro studies have shown that NAT2*7 has decreased N-acetylation activity toward numerous substrates (8081359, 7669073), and NAT2*7 exhibits substrate specificity , exhibiting increased affinity for diaminodiphenyl sulfone (dapsone), sulfamethazine, and sulfapyridine, and decreased affinity for its cofactor, acetyl-CoA as compared to the former reference NAT2*4 (17434923, 33815485, 7669073, 11337936). Nine out of nine variant effect predictors tested by CPIC staff predict that c.857G>A (p.G286E) does not impair protein function. Published in silico modeling predicts that c.857G>A disrupts the size/shape of the protein's active site (18680467), this result combined with the decreased affinity for acetyl-CoA is likely the molecular mechanism for the decreased acetylation activity observed.	\N	f
6481237	3	NAT2	*40	Slow	Decreased function	\N	\N	6481236	{28959610,17434923,18680467,11337936}	Definitive	\N	NAT2*40 is assigned decreased function based on definitive evidence. NAT2*40 is characterized by the core SNV c.857G>A (p.G286E, defining NAT2*7) which exhibits decreased N-acetylation activity toward sulfamethazine, decreased thermostability, and decreased protein expression in a mammalian cell lines compared to NAT2*4 (17434923). NAT2*40 also exhibits decreased protein levels when expressed in yeast cells (11337936). A clinical NAT2 phenotyping studying using isoniazid (INH) as a probe drug identified 2 patients carrying NAT2*40 (28959610). These individuals were classified among slow acetylators, who exhibited an acetylation index (defined as the ratio of plasma INH concentration at the 3rd hour, in mg/L + 0.6 divided by the dose in mg/kg) below that of rapid acetylators, which were defined as individuals homozygous for NAT2 increased function alleles *1 or *4 (28959610). Nine out of nine variant effect predictors tested by CPIC staff predict that c.857G>A (p.G286E) does not impair protein function. However, published in silico modeling indicates that c.857G>A (p.G286E) disrupts the size/shape of the protein's active site (18680467).	\N	f
6481241	3	NAT2	*42	\N	Uncertain function	\N	\N	6481240	{19909761}	Inadequate	\N	NAT2*42 is assigned uncertain function based on inadequate evidence. NAT2*42 is characterized by the core SNV c.622T>C (p.Y208H). Published in silico modeling predicts that c.622T>C (p.Y208H) does not alter NAT2 protein function (19909761). Four out of nine variant effect predictors tested by CPIC staff predict that c.622T>C (p.Y208H) impairs protein function. There are no in vitro or in vivo functional studies for NAT2*42	\N	f
779065	319	NUDT15	*1	\N	Normal function	\N	\N	779064	{26878724}	\N	\N	\N	{"Latino": 0.93638057, "European": 0.9931303, "East Asian": 0.87874174, "Central/South Asian": 0.93002415}	t
6481259	3	NAT2	*51	\N	Uncertain function	\N	\N	6481258	{26620671,29273096}	Inadequate	\N	NAT2*51 is assigned uncertain function based on inadequate evidence. There is no experimental evidence describing function for c.121A>T (p.N41Y). Seven out of nine variant effect predictors tested by CPIC staff predict that c.121A>T impairs protein function which agrees with published computational predictions indicating reduced function for c.121A>T (29273096).	\N	f
6481287	2	NAT2	*5G	\N	\N	\N	\N	6481286	\N	\N	\N	\N	\N	f
6481291	2	NAT2	*5J	\N	\N	\N	\N	6481290	\N	\N	\N	\N	\N	f
6481293	2	NAT2	*5M	\N	\N	\N	\N	6481292	\N	\N	\N	\N	\N	f
6481297	2	NAT2	*5U	\N	\N	\N	\N	6481296	\N	\N	\N	\N	\N	f
6481295	2	NAT2	*6J	\N	\N	\N	\N	6481294	\N	\N	\N	\N	\N	f
6481299	2	NAT2	*7G	\N	\N	\N	\N	6481298	\N	\N	\N	\N	\N	f
6481277	3	NAT2	*60	\N	Unknown function	\N	\N	6481276	{}	No evidence	\N	NAT2*60 is assigned unknown function based on a lack of evidence. NAT2*60 is characterized by the core SNVs c.491T>C (p.I164T) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.491T>C (p.I164T). Nine out of nine variant effect predictors tested by CPIC staff predict that c.491T>C (p.I164T) is neutral for protein function	\N	f
777697	339	CYP2C9	*15	No function	No function	\N	0.0	777696	{16099926,23752738}	Limited	\N	CYP2C9*15 is assigned no function based on limited evidence. CYP2C9*15 is defined by a nonsense mutation which results in a premature stop codon resulting in a significant truncation of the protein. In an in vitro study, CYP2C9*15 did not result in detectable protein expression (16099926). CYP2C9*15 was not included in subsequent in vitro studies because it is a null allele resulting in no protein formation (23752738). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
6481193	3	NAT2	*4	Rapid	Increased function	\N	\N	6481192	{9154882,8781741,28653770,8102597,30564082,15558239,7668286,2376572,1451720,10744128,22092036,1872889,8689813,20040334,9333101,17011540,22970273,16531626,15565348,9321764,9110365,11214777,31257615,29018032,24702251,24444407,15110095,27509179,11773863,20801937,16003747,21750470,23899363,9565293,9891107,9682266,24221535,22105431,8287065,27223070,8001235,8923605,10762005,8081359,35928262,28752039,17505821,21946899,16570187,15032315,18167504,17434923,33815485,18680467,19336229,15564878,7669073,11337936,12222688,17264801}	Definitive	\N	NAT2*4 is assigned increased function based on definitive evidence. The NAT gene nomenclature committee considered NAT2*4 as the reference allele for over two decades before the transfer of NAT2 allele nomenclature to PharmVar, which uses the GRCh38 (NC_000008.11) reference sequence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the reference NAT2*4 allele as "rapid". Under the CPIC allele function terminology, rapid acetylation alleles are categorized as "Increased Function". NAT2*4 has been studied for more than 25 years and numerous clinical and in vitro studies have demonstrated rapid acetylation by NAT2*4 with various substrates. Early clinical studies demonstrate rapid acetylation of caffeine metabolites in individuals homo- or heterozygous for the NAT2*4 allele (8102597, 7668286, 8923605, 9891107). Additional clinical studies demonstrate rapid acetylation by NAT2*4 using isoniazid (2376572, 9321764, 15565348) and sulfamethazine (1872889, 21946899). Individuals homo- or heterozygous for NAT2*4 metabolize hydralazine rapidly (24702251, 31257615). NAT2*4 is distinguished from NAT2*1 by the presence of the core SNV c.803G>A (p.R268K). c.803G>A (p.R268K) has not been shown experimentally to alter NAT2 acetylation activity in vitro nor in vivo. Accordingly, eight out of eight variant effect predictors tested by CPIC staff predict that c.803G>A is neutral/tolerated for protein function.	\N	f
6481205	3	NAT2	*15	Slow	Decreased function	\N	\N	6481204	{28523442}	Moderate	\N	NAT2*15 is assigned decreased function based on moderate evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*15 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*15 is characterized by the core SNVs c.191G>A (p.R64Q, defining NAT2*14) and c.590G>A (p.R197Q, defining NAT2*6) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. c.191G>A and c.590G>A have both repeatedly shown decreased NAT2 acetylation in numerous clinical and in vitro studies. An in vitro study using a bacterial expression system found that NAT2*15 exhibited significantly decreased N-acetyltransferase activity toward sulfamethazine and isoniazid and significantly decreased thermostability compared to the former reference NAT2*4 (28523442). Six and seven out of nine variant effect predictors tested by CPIC staff predict that c.191G>A (p.R64Q) and c.590G>A (p.R197Q) impair protein function, respectively. While c.191G>A and c.590G>A are both definitively attributed to decreased function individually, the combinatorial effects of having both variants present in the same allele are uncertain. Thus, NAT2*15 is assigned a moderate level of evidence.	\N	f
777749	339	CYP2C9	*41	Uncertain function	Uncertain function	\N	n/a	777748	{24077631,24118918,25142737,25951663,25144335,25476996,25614704,25832633,25884291,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*41 is assigned uncertain function due to inadequate evidence in one heterozygous subject and in vitro studies. One subject with CYP2C9 *1/*41 genotype exhibited increased AUC but similar oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). In vitro studies found CYP2C9*41 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25951663, 25476996, 25832633, 25884291, 25924705, 27163851, 23844998, 25614704). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481207	3	NAT2	*16	Slow	Decreased function	\N	\N	6481206	{9154882,28653770,30564082,15558239,7668286,10744128,9333101,17011540,9321764,11214777,27509179,20801937,9891107,9565293,9682266,24221535,8923605,10762005,28752039,21946899,15564878,7669073,10574910,15564878}	Definitive	\N	NAT2*16 is assigned decreased function based on definitive evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*16 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*16 is characterized by the core SNVs c.341T>C (p.I114T) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. The functional SNV c.341T>C (p.I114T) in NAT2*16 has been studied for more than 25 years and has shown decreased NAT2 N-acetylation in numerous clinical studies using caffeine (7668286, 9333101, 9891107, 10744128, 20801937, 24221535), sulfamethazine (21946899), dapsone (10762005), or isoniazid (9321764) as a substrate. Five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C impairs protein function. An in vitro study using a bacterial expression system measured the N-acetyltransferase capacity of a NAT2 construct containing the SNVs c.341T>C (p.I114T) and c.481C>T (p.L161=) and found this enzyme exhibited decreased activity compared to the former reference NAT2*4, using either 2-aminofluorene or sulfamethazine as substrates (7669073 ). Another in vitro study using a yeast expression system found that NAT2*16 displayed decreased thermostability relative to the former reference NAT2*4 resulting in decreased N-acetylation activity toward sulfamethazine (10574910). NAT2*16 was also shown to have decreased N-acetyltransferase activity in human hepatocytes (genotyped as NAT2*4/*16 or NAT2*6/*16) using isoniazid as a substrate (28752039). In vitro studies also show that NAT2*5 (which contains the core SNV c.341T>C, p.I114T) is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*16 would presumably be degraded in the same manner.	\N	f
777787	339	CYP2C9	*60	Decreased function	Uncertain function	\N	n/a	777786	{25142737,26255664,25884291}	Inadequate evidence	\N	CYP2C9*60 is assigned uncertain function due to inadequate evidence. CYP2C9*60 was first described in a patient requiring a low daily warfarin dose of 1.5mg (26255664). In vitro studies found CYP2C9*60 demonstrated enzyme activity ranging from decreased to similar activity compared to wildtype with various substrates (25142737, 26255664, 25884291). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481209	3	NAT2	*19	Slow	Decreased function	\N	\N	6481208	{18680467,12222688,9173883}	Limited	\N	NAT2*19 is assigned decreased function based on limited evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*19 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*19 is characterized by the core SNVs c.190C>T (p.R64W) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. In vitro studies of c.190C>T (p.R64W) have shown decreased protein expression, decreased thermostability, and significantly decreased N-acetyltransferase activity toward sulfamethazine (12222688). An additional in vitro study found that amino acid substitutions of arginine 64 to alanine, lysine, methionine, or glutamine (the latter of which defines NAT2*14) significantly decreased NAT2 protein stability and N-acetyltransferase activity toward p-aminosalicylic acid and all but p.R64K showed decreased N-acetyltransferase activity toward sulfamethazine (9173883). These results highlight the importance of the p.R64 residue for proper NAT2 catalytic activity. Published in silico modeling predicts that c.190C>T (p.R64W) decreases NAT2 protein stability, decreases flexibility and hydrogen bond capacity, and increases hydrophobicity and aromaticity resulting in a loss of electrostatic interactions (18680467). Similarly, six out of nine variant effect predictors tested by CPIC staff predict that c.190C>T (p.R64W) impairs NAT2 protein function.	\N	f
6481213	3	NAT2	*27	\N	Uncertain function	\N	\N	6481212	{19164093,29273096}	Inadequate	\N	NAT2*27 is assigned uncertain function based on inadequate evidence. NAT2*27 is characterized by the core SNVs c.589C>T and c.803G>A. c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. c.589C>T results in the amino acid change p.R197X, introducing a premature stop codon leading to the expression of a truncated protein product that is predicted to be nonfunctional (19164093, 29273096). Four out of four variant effect predictors tested by CPIC staff predict that c.589C>T (p.R197X) impairs function. While in silico predictions indicate that NAT2*27 exhibits decreased or possibly no enzymatic activity, the committee could not come to a consensus given the lack of in vitro or in vivo data to support the function.	\N	f
6481215	3	NAT2	*29	Slow	Decreased function	\N	\N	6481214	{10762005,28523442,15564878}	Moderate	\N	NAT2*29 is assigned decreased function based on moderate evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*29 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*29 is characterized by the functional SNVs c.191G>A (p.R64Q, defining NAT2*14) and c.341T>C (p.I114T, defining NAT2*5) which have both repeatedly shown decreased NAT2 N-acetylation in numerous in vivo and in vitro studies. A NAT2 phenotyping study showed that an individual genotyped as NAT2*14/*29 exhibited decreased acetylation of dapsone, with values below the cut-off value used to discriminate phenotypic rapid from slow acetylators (10762005). An in vitro study using a bacterial expression system found that NAT2*29 exhibits decreased thermostability and decreased N-acetyltransferase activity toward sulfamethazine and isoniazid (28523442 ). An additional in vitro study showed that NAT2*5 (which contains the core SNV c.341T>C, p.I114T) is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*29 would presumably be degraded in the same manner. Additionally, five and six out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) and c.191G>A (p.R64Q) impair protein function, respectively. While c.191G>A and c.341T>C are both definitively attributed to decreased function individually, the combinatorial effects of having both variants present in the same allele are uncertain.	\N	f
777693	339	CYP2C9	*13	Decreased function	No function	\N	0.0	777692	{23752738,16308280,15764711,25951663,19541829,16740353,20814155,19604036,21395648,21726410,21842338,22735459,23844998,24118918,24464553,25142737,25476996,25614704,25832633,25884291,27163851,25144335,27377818,27864660,15606435,24077631}	Definitive	\N	CYP2C9*13 is assigned no function based on definitive evidence in heterozygous patients. Subjects with CYP2C9*1/*13 genotype repeatedly demonstrated decreased clearance and increased AUC compared to wildtype subjects and similar clearance and AUC compared to CYP2C9*1/*3 subjects in multiple studies with different substrates (19604036, 21395648, 21726410, 21842338, 22735459, 27377818, 27864660, 15606435). Two studies correlated in vitro data with clinical data and also found increased AUC and decreased clearance compared to wildtype with lornoxicam and tolbutamide (15764711, 25614704). Additionally, a CYP2C9*3/*13 subject had a greater decrease in tolbutamide clearance compared to the CYP2C9*1/*13 subject (25614704). This was also demonstrated in another CYP2C9*3/*13 subject with decreased lornoxicam clearance and increased AUC compared to wildtype, CYP2C9 *1/*3, and CYP2C9*1/*2 subjects (15606435). Multiple in vitro studies demonstrate CYP2C9*13 exhibits decreased metabolism comparable to that observed for CYP2C9*3 for numerous substrates (23844998, 24118918, 24464553, 25142737, 25476996, 25832633, 25884291, 27163851, 24077631, 25951663, 19541829, 20814155, 23752738, 16308280, 25144335) and one model suggests the decreased metabolism across substrates is due to a side chain rotation which blocks the catalytic site (16740353). Therefore, consensus among experts was no function with an activity value of 0 based on definitive evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0033167014, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777713	339	CYP2C9	*23	Decreased function	Decreased function	\N	0.5	777712	{23752738,23844998,24118918,25951663,25142737,25144335,25476996,25832633,25884291,25924705,27163851,24077631}	Limited	\N	CYP2C9*23 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*23 demonstrated decreased clearance compared to wildtype (23844998, 24118918, 25144335, 25476996, 23752738, 25832633, 25884291, 25924705, 24077631). Although three in vitro studies showed CYP2C9*23 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 which definitively has decreased function, demonstrated increased or similar activity compared to wildtype in these studies (25142737, 25951663, 27163851). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0002119417, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481217	3	NAT2	*30	Slow	Decreased function	\N	\N	6481216	{15558239,15564878}	Moderate	\N	NAT2*30 is assigned decreased function based on moderate evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*30 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*30 is characterized by the core SNVs: c.341T>C (p.I114T), 590G>A (p.R197Q), and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. c.341T>C (defining NAT2*5) and c.590G>A (defining NAT2*6) have both repeatedly shown decreased NAT2 N-acetylation in numerous in vivo and in vitro studies. NAT2*30 was reported in a clinical NAT2 phenotyping study using caffeine as a probe drug; 4 individuals heterozygous for NAT2*30 exhibited decreased acetylation of caffeine metabolites (15558239 ). An additional in vitro study showed that NAT2*5 (which contains the core SNV c.341T>C, p.I114T) is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*30 would presumably be degraded in the same manner. Five and seven out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) and c.590G>A (p.R197Q) impair protein function, respectively, while eight out of eight predictors tested by CPIC staff predict that c.803G>A (p.R268K) is neutral/tolerated for protein function. Though c.341T>C and:c.590G>A are both definitively attributed to decreased function individually, the combinatorial effects of having both variants present in the same allele are uncertain.	\N	f
6481219	3	NAT2	*31	Slow	Decreased function	\N	\N	6481218	{19909761,15564878}	Moderate	\N	NAT2*31 is assigned decreased function based on moderate evidence. NAT2*31 is characterized by the core SNVs c.70T>A (p.L24I) and c.341T>C (p.I114T). Published in silico modeling predicts that c.70T>A (p.L24I) does not impair NAT2 protein function (19909761). However, five out of nine variant effect predictors tested by CPIC staff predict that c.70T>A (p.L24I) impairs protein function and structure-based predictors suggest that c.70T>A (p.L24I) decreases protein stability which could lead to decreased function. c.341T>C (p.I114T, defining NAT2*5) has repeatedly shown decreased NAT2 N-acetylation activity in numerous in vivo and in vitro studies and five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) impairs protein function. Additionally, an in vitro study showed that NAT2*5 (which contains the core SNV c.341T>C, p.I114T) is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*31 would presumably be degraded in the same manner and is assigned decreased function based on the function of c.341T>C (p.I114T). Despite this, it remains unknown whether c.70T>A has any combinatorial effects with c.341T>C.	\N	f
777675	339	CYP2C9	*4	Decreased function	Decreased function	\N	0.5	777674	{23752738,21228733}	Limited	\N	CYP2C9*4 is assigned decreased function based on limited evidence in heterozygous patients and in vitro studies. One patient on a stable dose of warfarin with CYP2C9*1/*4 genotype required a lower weekly warfarin dose compared to CYP2C9*1/*1 patients (21228733). In an in vitro study CYP2C9*4 demonstrated 16% enzyme activity with a warfarin substrate and 22% enzyme activity with a tolbutamide substrate compared to wildtype. The CYP2C9*4 defining SNP occurs in the substrate recognition site which likely contributes to the loss of enzyme activity (23752738). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0011754684, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777723	339	CYP2C9	*28	Decreased function	Decreased function	\N	0.5	777722	{23752738,19541829,16788382}	Limited	\N	CYP2C9*28 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*28 demonstrated decreased clearance compared to wildtype. These studies used different cell systems and substrates included warfarin, tolbutamide, diclofenac, losartan, and glimepiride (23752738, 19541829, 16788382). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.002, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481221	3	NAT2	*32	Slow	Decreased function	\N	\N	6481220	{1559981,9173883,19909761,15564878}	Moderate	\N	NAT2*32 is assigned decreased function based on moderate evidence. NAT2*32 is characterized by the core SNVs c.203G>A (p.C68Y) and c.341T>C (p.I114T). An in vitro study showed that substituting a glycine in place of cysteine at position p.68 abolished NAT2 N-acetyltransferase activity toward sulfamethazine, procainamide, p-aminosalicylic acid, and 2-aminofluorene; the authors discuss the high probability that p.Cys68 lies within the NAT2 active site and is directly involved in acetyl transfer (1559981). An additional in vitro study found that NAT2 p.C68A exhibited undetectable N-acetyltransferase activity toward p-aminosalicylic acid and sulfamethazine (9173883). Thus, substitution of a tyrosine in place of cysteine at residue p.68 would likely abolish NAT2 enzymatic activity. Published in silico modeling predicts that c.203G>A (p.C68Y) alters the NAT2 catalytic mechanism, rendering the protein non-functional (19909761). Lastly, eight out of nine variant effect predictors tested by CPIC staff predict that c.203G>A (p.C68Y) impairs protein function. c.341T>C (p.I114T) defines NAT2*5, which has repeatedly shown decreased NAT2 acetylation activity in numerous in vivo and in vitro studies. Additionally, an in vitro study showed that NAT2*5 is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*32 would presumably be degraded in the same manner. While the committee agreed to the assignment of decreased function based on the function of c.341T>C (p.I114T), there was a lack of consensus regarding the function of c.203G>A (p.C68Y). It remains unknown whether there are any combinatorial effects associated with c.341T>C and c.203G>A.	\N	f
6481223	3	NAT2	*33	Slow	Decreased function	\N	\N	6481222	{19164093,19909761,15564878}	Moderate	\N	NAT2*33 is assigned decreased function based on moderate evidence. NAT2*33 is characterized by the core SNVs c.341T>C (p.I114T, defining NAT2*5) and c.472A>C (p.I158L). Published in silico modeling predicts that c.472A>C (p.I158L) does not alter NAT2 protein function (19164093, 19909761). Similarly, nine out of nine variant effect predictors tested by CPIC staff predict that c.472A>C (p.I158L) is neutral/tolerated for NAT2 function. Thus, NAT2*33 is assigned decreased function based on c.341T>C (p.I114T) . c.341T>C (p.I114T) defines NAT2*5 which has repeatedly shown decreased NAT2 function in numerous in vivo and in vitro studies. Additionally, an in vitro study showed that NAT2*5 is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*33 would presumably be degraded in the same manner. Five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) impairs protein function. While.472A>C is not predicted to impair protein function, it remains unknown whether there are any combinatorial effects associated with c.341T>C and c.472A>C.	\N	f
6481225	3	NAT2	*34	Slow	Decreased function	\N	\N	6481224	{28523442,9154882,15558239,17011540,28959610}	Definitive	\N	NAT2*34 is assigned decreased function based on definitive evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*34 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*34 is characterized by the core SNV c.590G>A (p.R197Q) which has been studied for more than 25 years and has shown decreased NAT2 N-acetylation activity in numerous in vivo and in vitro studies using various substrates. In vivo phenotyping studies have demonstrated that individuals heterozygous for NAT2*34 in combination with another decreased function allele exhibit decreased N-acetylation activity toward caffeine metabolites (15558239, 17011540) and isoniazid (9154882, 28959610). Seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. In vitro studies have shown that NAT2*34 exhibits decreased thermostability and decreased N-acetyltransferase activity toward sulfamethazine and isoniazid (28523442).	\N	f
6481227	3	NAT2	*35	Slow	Decreased function	\N	\N	6481226	{19909761}	Moderate	\N	NAT2*35 is assigned decreased function based on moderate evidence. NAT2*35 is characterized by the core SNVs c.152G>T (p.G51V), c.590G>A (p.R197Q, defining NAT2*6), and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. Published in silico modeling predicts that c.152G>T (p.G51V) alters substrate binding (19909761). Five out of nine variant effect predictors tested by CPIC staff predict that c.152G>T (p.G51V) impairs NAT2 protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*35 is assigned decreased function based on c.590G>A (p.R197Q). Despite this, it remains unknown whether there are any combinatorial effects associated with c.152G>T and c.590G>A.	\N	f
6481229	3	NAT2	*36	Slow	Decreased function	\N	\N	6481228	{}	Moderate	\N	NAT2*36 is assigned decreased function based on moderate evidence. NAT2*36 is characterized by the core SNVs c.403C>G (p.L135V), c.590G>A (p.R197Q), and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.403C>G (p.L135V). Eight out of nine variant effect predictors tested by CPIC staff predict that c.403C>G is neutral/tolerated for protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A impairs protein function. Thus, NAT2*36 is assigned decreased function based on c.590G>A. While c.403C>G is not predicted to impair protein function, it remains unknown whether there are any combinatorial effects associated with c.590G>A and c.403C>G.	\N	f
6481231	3	NAT2	*37	Slow	Decreased function	\N	\N	6481230	{29273096}	Moderate	\N	NAT2*37 is assigned decreased function based on moderate evidence. NAT2*37 is characterized by the core SNVs c.590G>A (p.R197Q), c.638C>T (p.P213L) and c.803G>A. c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.638C>T (p.P213L). Seven out of nine variant effect predictors tested by CPIC staff predict that c.638C>T (p.P213L) impairs protein function, which is supported by published in silico analysis (29273096). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A impairs protein function. Thus, NAT2*37 is assigned decreased function based on c.590G>A. Despite this, it remains unknown whether there are any combinatorial effects associated with c.638C>T and c.590G>A.	\N	f
777941	335	CYP2D6	*3	\N	No function	\N	0.0	777940	{2211621}	Limited	\N	CYP2D6*3 is assigned no function based on limited evidence. CYP2D6*3 was first described in a heterozygous subject demonstrating decreased sparteine metabolism based on an elevated urinary metabolite ratio. CYP2D6*3 is defined by a single nucleotide deletion causing a frameshift and resulting in a nonfunctional protein (2211621). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": 0.0071793622, "American": 0.000654978, "European": 0.015922716, "Oceanian": 0.0010404624, "East Asian": 0.0000556167, "Near Eastern": 0.0043491097, "Central/South Asian": 0.0012986185, "Sub-Saharan African": 0.0009698735, "African American/Afro-Caribbean": 0.0032821998}	f
779694	278	CYP2D6	*3x2	\N	No function	\N	0.0	777940	{2211621}	Limited	\N	CYP2D6*3x2 is assigned no function based on limited evidence. CYP2D6*3 is defined by a single nucleotide deletion causing a frameshift and resulting in a nonfunctional protein and is assigned no function (2211621). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would be clinically similar to phenotypes comprising the nonduplicated allele.	{"Latino": 0.00050, "American": null, "European": 0.00010, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
2677040	103	CYP2D6	*164	\N	\N	\N	\N	2677039	\N	\N	\N	\N	\N	f
6481233	3	NAT2	*38	Slow	Decreased function	\N	\N	6481232	{19909761}	Moderate	\N	NAT2*38 is assigned decreased function based on moderate evidence. NAT2*38 is characterized by the core SNVs c.590G>A (p.R197Q), c.766A>G (p.K256E) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. Published in silico modeling predicts that c.766A>G (p.K256E) does not alter protein function (19909761). Four out of nine variant effect predictors tested by CPIC staff predict that c.766A>G impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A impairs protein function. Thus, NAT2*38 is assigned decreased function based on c.590G>A. While c.766A>G is not predicted to impair protein function, it remains unknown whether there are any combinatorial effects associated with c.590G>A and c.766A>G.	\N	f
6481235	3	NAT2	*39	Slow	Decreased function	\N	\N	6481234	{24533708,19909761}	Moderate	\N	NAT2*39 is assigned decreased function based on moderate evidence. NAT2*39 is characterized by the core SNVs c.590G>A (p.R197Q), c.803G>A (p.R268K), and c.838G>A (p.V280M). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. Published in silico modeling predicts that c.838G>A (p.V280M) impairs protein function based on the exposure of hydrophobic residues that may facilitate protein aggregation and/or targeted protein degradation (19909761). NAT2*39 was identified in one patient (genotyped NAT2*4/*39) in a NAT2 phenotyping study using isoniazid. This patient was classified as an intermediate acetylator and this study showed lower acetyl-INH/INH ratios for intermediate acetylators compared to rapid acetylators, defined as individuals homozygous for NAT2 increased function alleles *1 or *4 or heterozygous NAT2*1/*4 (24533708). Four out of nine variant effect predictors tested by CPIC staff predict that c.838G>A (p.V280M) impairs protein function, which is supported by published in silico predictions (27984508). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A impairs protein function. Thus, NAT2*39 is assigned decreased function based on c.590G>A. Despite this, it remains unknown whether there are any combinatorial effects associated with c.838G>A and c.590G>A.	\N	f
6481239	3	NAT2	*41	\N	Uncertain function	\N	\N	6481238	{19909761}	Inadequate	\N	NAT2*41 is assigned uncertain function based on inadequate evidence. NAT2*41 is characterized by the core SNV c.578C>T (p.T193M). Published in silico modeling predicts that c.578C>T (p.T193M) impairs protein function based on exposure of hydrophobic residues that may facilitate protein aggregation or targeted degradation (19909761). Similarly, six out of nine variant effect predictors tested by CPIC staff predict that c.578C>T (p.T193M) impairs protein function. There are no in vitro or in vivo functional studies for NAT2*41	\N	f
6481243	3	NAT2	*43	\N	Uncertain function	\N	\N	6481242	{19909761,24444407}	Inadequate	\N	NAT2*43 is assigned uncertain function based on inadequate evidence. NAT2*43 is characterized by the core SNV c.609G>T (p.E203D). Published in silico modeling predicts that c.609G>T (p.E203D) does not alter NAT2 protein function (19909761). Similarly, eight out of nine variant effect predictors tested by CPIC staff predict that c.609G>T (p.E203D) is neutral/tolerated for NAT2 protein function. The limited clinical data available for NAT2*43 was not sufficient to influence the allele clinical functional status.(24444407).	\N	f
6481245	3	NAT2	*44	\N	Uncertain function	\N	\N	6481244	{19909761,28959610,24444407}	Inadequate	\N	NAT2*44 is assigned uncertain function based on inadequate evidence. NAT2*44 is characterized by the core SNV c.403C>G (p.L135V). There is no experimental evidence describing function for c.403C>G (p.L135V). Published in silico modeling predicts that c.403C>G (p.L135V) does not alter NAT2 protein function (19909761). Similarly, eight out of nine variant effect predictors tested by CPIC staff predict that c.403C>G (p.L135V) is neutral/tolerated for NAT2 protein function. The limited clinical data available for NAT2*44 was not sufficient to influence the allele clinical functional status (24444407). Additionally, a NAT2 phenotyping study identified a patient with the genotype NAT2*5/*44, however this individual was excluded from phenotype analysis (28959610).	\N	f
777967	335	CYP2D6	*17	\N	Decreased function	\N	0.5	777966	{8764380,8971426,9415713,11823760,24647041,30366777}	Moderate	\N	CYP2D6*17 is assigned decreased function based on moderate evidence. CYP2D6*17 has consistently been described in heterozygous and homozygous subjects demonstrating decreased metabolism of various CYP2D6 substrates compared to wildtype subjects based on urine metabolites (8764380, 8971426, 11823760). Multiple in vitro studies found CYP2D6*17 had at least modestly decreased enzyme activity compared to wildtype with various substrates (9415713, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": 0.023261126, "American": 0.0052698795, "European": 0.0039216722, "Oceanian": 0.0010413943, "East Asian": 0.00009343609, "Near Eastern": 0.030970177, "Central/South Asian": 0.0004806022, "Sub-Saharan African": 0.19355686, "African American/Afro-Caribbean": 0.16882424}	f
777969	335	CYP2D6	*18	\N	No function	\N	0.0	777968	{8946471,10471060,18784265,24647041,30366777}	Moderate	\N	CYP2D6*18 is assigned no function based on moderate evidence. CYP2D6*18 is defined by a 9 base insertion yielding a nonfunctional enzyme and has been described in subjects demonstrating markedly decreased metabolism of sparteine and debrisoquine (8946471, 10471060). Multiple in vitro studies found CYP2D6*18 had decreased enzyme activity compared to wildtype with various substrates (8946471, 18784265, 24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0013486103, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777971	334	CYP2D6	*19	\N	No function	\N	0.0	777970	{9241659}	Limited	\N	CYP2D6*19 is assigned no function based on limited evidence. CYP2D6*19 is defined by a four base deletion resulting in a frameshift and yielding a nonfunctional enzyme (9241659). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": 0.0003139269, "Oceanian": 0.002224, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
2677052	103	CYP2D6	*170	\N	\N	\N	\N	2677051	\N	\N	\N	\N	\N	f
2677042	103	CYP2D6	*165	\N	\N	\N	\N	2677041	\N	\N	\N	\N	\N	f
6481247	3	NAT2	*45	\N	Uncertain function	\N	\N	6481246	{19909761,24444407}	Inadequate	\N	NAT2*45 is assigned uncertain function based on inadequate evidence. NAT2*45 is characterized by the core SNV c.29T>C (p.I10T). Published in silico modeling predicts that c.29T>C (p.I10T) does not alter NAT2 protein function (19909761). However, five out of nine variant effect predictors tested by CPIC staff predict that c.29T>C (p.I10T) impairs NAT2 protein function. Additionally, a structure-based computational prediction tool predicts that c.29T>C (p.I10T) decreases NAT2 protein stability which could lead to decreased function. The limited clinical data available for NAT2*45 was not sufficient to influence the allele clinical functional status (24444407).	\N	f
6481249	3	NAT2	*46	Slow	Decreased function	\N	\N	6481248	{28523442,28959610,18680467,10574910}	Definitive	\N	NAT2*46 is assigned decreased function based on definitive evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*46 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*46 is characterized by the core SNVc.191G>A (p.R64Q, defining NAT2*14) which has repeatedly shown decreased NAT2 function in numerous in vivo and in vitro studies. NAT2*46 was reported in three individuals in a NAT2 phenotyping study using isoniazid (INH) as a probe drug (28959610). These individuals were classified among slow acetylators who exhibited an acetylation index (defined as the ratio of plasma INH concentration at the 3rd hour, in mg/L + 0.6 divided by the dose in mg/kg) below that of rapid acetylators, which were defined as individuals homozygous for NAT2 increased function alleles *1 or *4 (28959610). In vitro studies have shown that NAT2*46 exhibits decreased thermostability and decreased N-acetyltransferase activity toward sulfamethazine and isoniazid compared to the former reference NAT2*4 (10574910, 28523442). Six out of nine variant effect predictors tested by CPIC staff predict that c.191G>A (p.R64Q) impairs protein function. Published in silico modeling predicts that c.191G>A (p.R64Q) decreases protein stability and hinders electrostatic interactions (18680467).	\N	f
777993	335	CYP2D6	*30	\N	Uncertain function	\N	n/a	777992	{24647041,30366777}	Inadequate	\N	CYP2D6*30 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*30 demonstrated decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779732	279	CYP2D6	*35x2	\N	Increased function	\N	2.0	778002	{9511177}	Limited	\N	CYP2D6*35x2 is assigned increased function based on limited evidence in heterozygous subjects. CYP2D6*35x2 was described in a subject with CYP2D6*1/*35x2 genotype demonstrating increased enzyme activity with the greatest sparteine metabolism among 195 subjects based on urine metabolites. Additionally, a subject with CYP2D6 *5/*35x2 genotype demonstrated similar sparteine metabolism compared to wildtype subjects indicating increased enzyme activity (9511177). Therefore, consensus among experts was increased function with an activity value of 2 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.00093648373, "American": 0.00020282187, "European": 0.00057484733, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.00009041316}	f
779734	279	CYP2D6	*36x2	\N	No function	\N	0.0	778004	{12439227}	Limited	\N	CYP2D6*36x2 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*36x2 has been described in a subject with CYP2D6*21/*36x2 genotype demonstrating poor metabolism with a debrisoquine substrate (12439227). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would be clinically similar to phenotypes comprising the nonduplicated allele.	{"Latino": 0.00050, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.004052432, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.000092301394}	f
2677044	103	CYP2D6	*166	\N	\N	\N	\N	2677043	\N	\N	\N	\N	\N	f
778017	335	CYP2D6	*42	\N	No function	\N	0.0	778016	{12811367}	Limited	\N	CYP2D6*42 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*42 has been described in subjects with CYP2D6 *17/*42 genotype demonstrating decreased metabolism and a subject with CYP2D6 *40/*42 genotype demonstrating poor metabolism with a dextromethorphan substrate (12811367). CYP2D6*42 is defined by a base pair insertion resulting in a frameshift yielding a truncated and nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.00077314815, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0036646896}	f
779744	278	CYP2D6	*43x2	\N	Uncertain function	\N	n/a	778018	{24647041,30366777}	Inadequate	\N	CYP2D6*43x2 is assigned uncertain function due to inadequate evidence. CYP2D6*43 is assigned uncertain function due to inconsistent findings regarding enzyme activity compared to wildtype (24647041, 30366777). Therefore, consensus among experts was uncertain function as it cannot yet be determined what the phenotype of a duplicated allele with uncertain function would be clinically similar to.	{"Latino": null, "American": 0.001, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0}	f
6481251	3	NAT2	*47	Slow	Decreased function	\N	\N	6481250	{18680467,19909761,24533708}	Limited	\N	NAT2*47 is assigned decreased function based on limited evidence. NAT2*47 is characterized by the core SNVs c.191G>A (p.R64Q), c.683C>T (p.P228L), and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. Published in silico modeling predicts that c.683C>T (p.P228L) impairs protein function based on the exposure of hydrophobic residues that may facilitate protein aggregation and/or targeted protein degradation (19909761). However, two out of nine variant effect predictors tested by CPIC staff predict that c.683C>T (p.P228L) impairs protein function. c.191G>A (p.R64Q, defining NAT2*14) has repeatedly shown decreased NAT2 function in numerous in vivo and in vitro studies. Six out of nine variant effect predictors tested by CPIC staff predict that c.191G>A (p.R64Q) impairs protein function. Published in silico modeling predicts that c.191G>A (p.R64Q) decreases protein stability and hinders electrostatic interactions (18680467). A NAT2 phenotyping study identified one patient with the genotype NAT2*5/*47 and this individual was classified a "slow acetylator" (24533708). In this study, slow acetylators exhibited lower metabolic ratios of acetyl-INH/INH that were statistically significant compared to both rapid and intermediate acetylators, as well as an increased INH half-life, increased INH AUC values, and decreased INH CL/F values (24533708). NAT2*47 is assigned decreased function based on the function of c.191G>A (p.R64Q). Despite this, it remains unknown whether there are any combinatorial effects associated with c.683C>T and c.191G>A	\N	f
778049	334	CYP2D6	*58	\N	Unknown function	\N	n/a	778048	{}	No Evidence	\N	CYP2D6*58 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0012297297}	f
778075	334	CYP2D6	*73	\N	Unknown function	\N	n/a	778074	{}	No Evidence	\N	CYP2D6*73 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0022734273, "African American/Afro-Caribbean": 0.0}	f
2677046	103	CYP2D6	*167	\N	\N	\N	\N	2677045	\N	\N	\N	\N	\N	f
6481253	3	NAT2	*48	Slow	Decreased function	\N	\N	6481252	{17434923,18680467,17264801}	Limited	\N	NAT2*48 is assigned decreased function based on limited evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*48 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". In vitro evidence demonstrates that NAT2*48 N-acetylation activity is undetectable when using sulfamethazine as a substrate. NAT2*48 mRNA expression levels are comparable to NAT2*4, but protein expression is undetectable in mammalian cells (17264801, 17434923). Despite the undetectable enzymatic activity, the authors concluded that NAT2*48 exhibits decreased function rather than no function. Similarly, the committee could not come to consensus on a call of no function due to the lack of in vivo data supporting a complete loss of function. Published in silico modeling suggests that c.364G>A (p.D122N) disrupts the catalytic triad and the stability of the active site loop (18680467). Eight out of nine variant effect predictors tested by CPIC staff predict that c.364G>A (p.D122N) impairs protein function.	\N	f
6481255	3	NAT2	*49	Slow	Decreased function	\N	\N	6481254	{19909761}	Moderate	\N	NAT2*49 is assigned decreased function based on moderate evidence. NAT2*49 is characterized by the core SNVs c.341T>C (p.I114T) and c.578C>T (p.T193M). Published in silico modeling predicts that c.578C>T (p.T193M) impairs protein function based on exposure of hydrophobic residues that may facilitate protein aggregation or targeted degradation (19909761). Similarly, six out of nine variant effect predictors tested by CPIC staff predict that c.578C>T (p.T193M) impairs protein function. c.341T>C (p.I114T) defines NAT2*5 which has repeatedly shown decreased N-acetyltransferase activity in numerous in vivo and in vitro studies. Additionally, an in vitro study showed that NAT2*5 is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*49 would presumably be degraded in the same manner. Five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) impairs protein function. Thus, NAT2*49 is assigned decreased function based on c.341T>C. Despite this, it remains unknown whether there are any combinatorial effects associated with c.341T>C and c.578C>T	\N	f
6481257	3	NAT2	*50	Slow	Decreased function	\N	\N	6481256	{}	Moderate	\N	NAT2*50 is assigned decreased function based on moderate evidence. NAT2*50 is characterized by the core SNVs c.7A>G (p.I3V), c.590G>A (p.R197Q), and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature supporting a function for c.7A>G (p.I3V). One out of nine variant effect predictors tested by CPIC staff predicts that c.7A>G (p.I3V) impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has repeatedly shown decreased N-acetyltransferase activity in numerous in vivo and in vitro studies. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*50 is assigned decreased function based on c.590G>A. While c.7A>G is not predicted to impair protein function, the combinatorial effects associated with c.590G>A and c.7A>G are uncertain.	\N	f
6481261	3	NAT2	*52	Slow	Decreased function	\N	\N	6481260	{29273096}	Moderate	\N	NAT2*52 is assigned decreased function based on moderate evidence. NAT2*52 is characterized by the core SNVs c.518A>G (p.K173R), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.518A>G (p.K173R). Nine out of nine variant effect predictors tested by CPIC staff predict that c.518A>G (p.K173R) does not impair protein function. Similarly, published in silico analysis indicates that c.518A>G does not alter protein function (29273096). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*52 is assigned decreased function based on c.590G>A. While c.518A>G is not predicted to impair protein function, the combinatorial effects associated with c.590G>A and c.518A>G are uncertain.	\N	f
6481263	3	NAT2	*53	Slow	Decreased function	\N	\N	6481262	{}	Moderate	\N	NAT2*53 is assigned decreased function based on moderate evidence. NAT2*53 is characterized by the core SNVs c.248G>C (p.G83A), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.248G>C (p.G83A). Seven out of nine variant effect predictors tested by CPIC staff predict that c.248G>C (p.G83A) impairs protein function. Similarly, published in silico analysis indicates that c.248G>C (p.G83A) is deleterious for protein function (Abodlaa et al. 2019; Bilal et al. 2022). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*53 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.248G>C and c.590G>A are uncertain.	\N	f
6481265	3	NAT2	*54	\N	Uncertain function	\N	\N	6481264	{19909761}	Inadequate	\N	NAT2*54 is assigned uncertain function based on inadequate evidence. NAT2*54 is characterized by the core SNVs c.29T>C (p.I10T) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. Published in silico modeling predicts that c.29T>C (p.I10T) does not alter NAT2 protein function (19909761). However, five out of nine variant effect predictors tested by CPIC staff predict that c.29T>C (p.I10T) impairs NAT2 protein function. Additionally, a structure-based computational prediction tool predicts that c.29T>C (p.I10T) decreases NAT2 protein stability which could lead to decreased function.	\N	f
6481267	3	NAT2	*55	\N	Unknown function	\N	\N	6481266	{}	No evidence	\N	NAT2*55 is assigned unknown function based on a lack of evidence. NAT2*55 is characterized by the core SNVs c.51C>G (p.N17K) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.51C>G (p.N17K). Nine out of nine variant effect predictors tested by CPIC staff predict that c.51C>G (p.N17K) is neutral for protein function.	\N	f
6481269	3	NAT2	*56	Slow	Decreased function	\N	\N	6481268	{}	Moderate	\N	NAT2*56 is assigned decreased function based on moderate evidence. NAT2*56 is characterized by the core SNVs c.58G>T (p.D20Y), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.58G>T (p.D20Y). Eight out of nine variant effect predictors tested by CPIC staff predict that c.58G>T (p.D20Y) impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*56 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.58G>T and c.590G>A are uncertain.	\N	f
6481271	3	NAT2	*57	\N	Unknown function	\N	\N	6481270	{}	No evidence	\N	NAT2*57 is assigned unknown function based on a lack of evidence. NAT2*57 is characterized by the core SNVs c.321C>A (p.H107Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro Eight out of nine variant effect predictors tested by CPIC staff predict that c.321C>A (p.H107Q) impairs protein function	\N	f
778103	335	CYP2D6	*92	\N	No function	\N	0.0	778102	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Limited	\N	CYP2D6*92 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2D6*92 had nondetectable enzyme with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). CYP2D6*92 is defined by a deletion resulting in a frameshift and early stop codon and yielding a truncated nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2677048	103	CYP2D6	*168	\N	\N	\N	\N	2677047	\N	\N	\N	\N	\N	f
2677050	103	CYP2D6	*169	\N	\N	\N	\N	2677049	\N	\N	\N	\N	\N	f
778125	334	CYP2D6	*103	\N	Unknown function	\N	n/a	778124	{}	No Evidence	\N	CYP2D6*103 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0033, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318540	77	CYP2D6	*172	\N	\N	\N	\N	3318539	\N	\N	\N	\N	\N	f
5175553	24	CYP2D6	*174	\N	\N	\N	\N	5175552	\N	\N	\N	\N	\N	f
5175555	24	CYP2D6	*175	\N	\N	\N	\N	5175554	\N	\N	\N	\N	\N	f
5763833	14	CYP2D6	*177	\N	\N	\N	\N	5763832	\N	\N	\N	\N	\N	f
6481273	3	NAT2	*58	Slow	Decreased function	\N	\N	6481272	{29273096}	Moderate	\N	NAT2*58 is assigned decreased function based on moderate evidence. NAT2*58 is characterized by the core SNVs c.346G>A (p.G116S), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.346G>A (p.G116S). Five out of nine variant effect predictors tested by CPIC staff predict that c.346G>A (p.G116S) impairs protein function, which is supported by published in silico analysis (29273096). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*58 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.346G>A and c.590G>A are uncertain	\N	f
6481275	3	NAT2	*59	Slow	Decreased function	\N	\N	6481274	{18680467}	Moderate	\N	NAT2*59 is assigned decreased function based on moderate evidence. NAT2*59 is characterized by the core SNVs c.475T>A (p.W159R), c.803G>A (p.R268K), and c.857G>A (p.G286E). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.475T>A (p.W159R). Eight out of nine variant effect predictors tested by CPIC staff predict that c.475T>A (p.W159R) impairs protein function. c.857G>A (p.G286E) defines NAT2*7 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Nine out of nine variant effect predictors tested by CPIC staff predict that c.857G>A (p.G286E) does not impair protein function. However, published in silico modeling indicates that c.857G>A (p.G286E) disrupts the size/shape of the protein's active site (18680467). Thus, NAT2*59 is assigned decreased function based on c.857G>A. Despite this, the combinatorial effects associated with c.475T>A and c.857G>A are uncertain.	\N	f
6481279	3	NAT2	*61	\N	Unknown function	\N	\N	6481278	{}	No evidence	\N	NAT2*61 is assigned unknown function based on a lack of evidence. NAT2*61 is characterized by the core SNVs c.506A>G (p.Y169C) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.506A>G (p.Y169C). Four out of nine variant effect predictors tested by CPIC staff predict that c.506A>G (p.Y169C) impairs protein function.	\N	f
6481281	3	NAT2	*62	Slow	Decreased function	\N	\N	6481280	{}	Moderate	\N	NAT2*62 is assigned decreased function based on moderate evidence. NAT2*62 is characterized by the core SNVs c.536A>G (p.H179R), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.536A>G (p.H179R). Nine out of nine variant effect predictors tested by CPIC staff predict that c.536A>G (p.H179R) does not impair protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*62 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.536A>G and c.590G>A are uncertain	\N	f
6481283	3	NAT2	*63	Slow	Decreased function	\N	\N	6481282	{}	Moderate	\N	NAT2*63 is assigned decreased function based on moderate evidence. NAT2*63 is characterized by the core SNVs c.590G>A (p.R197Q), c.650T>A (p.F217Y) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.650T>A (p.F217Y). Seven out of nine variant effect predictors tested by CPIC staff predict c.650T>A (p.F217Y) impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*63 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.650T>A and c.590G>A are uncertain.	\N	f
778165	334	CYP2D6	*123	\N	Uncertain function	\N	n/a	778164	{31368850}	Inadequate	\N	CYP2D6*123 is assigned uncertain function due to inadequate data describing function of this allele. *123 has the same core SNPs as *41 plus 2870T>C (L302P); this is the only allele with the latter and there does not seem to be additional functional information. Therefore, consensus among experts was uncertain function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778167	335	CYP2D6	*124	\N	No function	\N	0.0	778166	{}	Limited	\N	CYP2D6*124 is assigned no function based on limited evidence. CYP2D6*124 is defined by a deletion resulting in a frameshift and yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481285	3	NAT2	*64	Slow	Decreased function	\N	\N	6481284	{}	Moderate	\N	NAT2*64 is assigned decreased function based on moderate evidence. NAT2*64 is characterized by the core SNVs c.590G>A (p.R197Q), c.796G>A (p.V266M) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.796G>A (p.V266M). Three out of nine variant effect predictors tested by CPIC staff predict c.796G>A (p.V266M) impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*64 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.796G>A and c.590G>A are uncertain	\N	f
6483458	1	NAT2	*65	\N	Unknown function	\N	\N	6483457	{}	No evidence	\N	NAT2*65 is assigned unknown function based on a lack of evidence. NAT2*65 is characterized by the core SNVs c.613A>T (p.M205L) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.613A>T (p.M205L). Nine out of nine variant effect predictors tested by CPIC staff predict that c.613A>T (p.M205L) is neutral/tolerated for protein function.	\N	f
6483460	1	NAT2	*66	Slow	Decreased function	\N	\N	6483459	{}	Moderate	\N	NAT2*66 is assigned decreased function based on moderate evidence. NAT2*66 is characterized by the core SNVs c.590G>A (p.R197Q), c.682C>T (p.P228S) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.682C>T (p.P228S). One out of nine variant effect predictors tested by CPIC staff predict c.682C>T (p.P228S) impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*66 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.682C>T and c.590G>A are uncertain.	\N	f
778205	241	CYP2D6	*143	\N	No function	\N	0.0	778204	{33998274}	Limited	\N	CYP2D6*143 is assigned no function based on limited evidence. CYP2D6*143 is defined by a premature stop codon predicted to yield truncated protein and thus be nonfunctional. A subject sequenced as CYP2D6*143/*144 had a risperidone/9-hydroxy-risperidone ratio that was higher (indicating lower activity) compared to that found in subjects with two no function alleles(33998274). Therefore, consensus among experts was no function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6483462	1	NAT2	*67	Slow	Decreased function	\N	\N	6483461	{29273096}	Moderate	\N	NAT2*67 is assigned decreased function based on moderate evidence. NAT2*67 is characterized by the core SNVs c.590G>A (p.R197Q), c.803G>A (p.R268K), and c.823T>A (p.L275M). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.823T>A (p.L275M). Five out of nine variant effect predictors tested by CPIC staff predict c.823T>A (p.L275M) impairs protein function, which is supported by published in silico analysis (29273096). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*67 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.823T>A and c.590G>A are uncertain.	\N	f
6483464	1	NAT2	*68	Slow	Decreased function	\N	\N	6483463	{18680467}	Moderate	\N	NAT2*68 is assigned decreased function based on moderate evidence. NAT2*68 is characterized by the core SNVs c.580C>G (p.L194V), c.803G>A (p.R268K), and c.857G>A (p.G286E). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.580C>G (p.L194V). Six out of nine variant effect predictors tested by CPIC staff predict that c.580C>G (p.L194V) impairs protein function. c.857G>A (p.G286E) defines NAT2*7 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Nine out of nine variant effect predictors tested by CPIC staff predict that c.857G>A (p.G286E) does not impair protein function. However, published in silico modeling indicates that c.857G>A (p.G286E) disrupts the size/shape of the protein's active site (18680467). Thus, NAT2*68 is assigned decreased function based on c.857G>A. Despite this, the combinatorial effects associated with c.580C>G and c.857G>A are uncertain	\N	f
6483466	1	NAT2	*69	Slow	Decreased function	\N	\N	6483465	{19164093,29273096}	Moderate	\N	NAT2*69 is assigned decreased function based on moderate evidence. NAT2*TBD is characterized by the core SNVs c.341T>C (p.I114T) and c.589C>T (p.R197X). c.589C>T results in the amino acid change p.R197X, introducing a premature stop codon leading to the expression of a truncated protein product that is predicted to be nonfunctional (19164093, 29273096). Four out of four variant effect predictors tested by CPIC staff predict that c.589C>T (p.R197X) impairs function. c.341T>C (p.I114T) defines NAT2*5 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. In vitro studies also show that NAT2*5 (which contains the core SNV c.341T>C, p.I114T) is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*TBD would presumably be degraded in the same manner. Additionally, five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) impairs protein function. NAT2*TBD is assigned decreased function based on c.341T>C. Despite this, the combinatorial effects associated with c.341T>C and c.589C>T are uncertain.	\N	f
3685697	130	RYR1	c.7777C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685696	{35849058}	\N	\N	None	{"Latino": 0.00006607, "American": null, "European": 0.00001475, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685719	130	RYR1	c.8198G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685718	{35849058}	\N	\N	PS4_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685725	130	RYR1	c.8360C>G	Benign	Normal function	\N	n/a	3685724	{35849058}	\N	\N	BA1	{"Latino": 0.002814, "American": null, "European": 0.0004409, "East Asian": null, "Near Eastern": 0.01152, "Central/South Asian": 0.0004144, "Sub-Saharan African": 0.02895}	f
777961	335	CYP2D6	*13	\N	No function	\N	0.0	777960	{8554938}	Limited	\N	CYP2D6*13 is assigned no function based on limited evidence. CYP2D6*13 was first described in a subject demonstrating markedly decreased dextromethorphan metabolism (8554938). CYP2D6*13 is a CYP2D7-CYP2D6 hybrid allele resulting in a premature stop codon and yielding a truncated nonfunctional enzyme. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.001, "European": 0.00091628334, "Oceanian": null, "East Asian": 0.0012615201, "Near Eastern": null, "Central/South Asian": 0.00074228394, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.000562724}	f
777963	335	CYP2D6	*14	\N	Decreased function	\N	0.5	777962	{18784265,19364831,24647041,30366777}	Limited	\N	CYP2D6*14 is assigned decreased function based on limited evidence. Three subjects with CYP2D6*1/*14, CYP2D6 *10/*14, and CYP2D6*14/*41 genotype, respectively demonstrated decreased dextromethorphan metabolism compared to wildtype based on urine metabolites (19364831). Multiple in vitro studies found CYP2D6*14 had modestly decreased enzyme activity compared to wildtype with various substrates (18784265, 19364831, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.004713944, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777997	335	CYP2D6	*32	\N	Decreased function	\N	0.25	777996	{24647041,30366777}	Limited	\N	CYP2D6*32 is assigned decreased function with an activity value of 0.25 due to limited evidence. In vitro studies found CYP2D6*32 demonstrated enzyme activity ranging from nondetectable to decreased activity compared to wildtype with various substrates (24647041, 30366777). *32 also contains 2989G>A which is the core SNP of *41 with decreased function and the only other SNP of concern, 3854G>A (E410K) would not be expected to change function as the *27 allele (defined by 3854G>A (E410K)) is normal function. Therefore, consensus among experts was decreased function with limited evidence.	{"Latino": null, "American": 0.0, "European": 0.003, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0004385813, "African American/Afro-Caribbean": 0.0}	f
3685731	130	RYR1	c.8600T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685730	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685781	130	RYR1	c.10252A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685780	{35849058}	\N	\N	PS4_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685783	130	RYR1	c.10556C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685782	{33767344}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685915	130	RYR1	c.14422_14423delinsAA	Variant of uncertain significance	Uncertain function	\N	n/a	3685914	{35849058}	\N	\N	PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685865	130	RYR1	c.12848A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685864	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": 0.000199, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685877	130	RYR1	c.13672C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685876	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685963	130	RYR1	c.14803G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685962	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685619	130	RYR1	c.7084G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685618	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
778057	335	CYP2D6	*62	\N	No function	\N	0.0	778056	{17460029,24647041,30366777}	Limited	\N	CYP2D6*62 is assigned no function based on limited evidence. CYP2D6*62 has been described in a subject with reduced enzyme activity with a sparteine substrate (17460029). Multiple in vitro studies found CYP2D6*62 had nondetectable enzyme activity with multiple substrates (17460029, 24647041, 30366777). CYP2D6*62 is defined by a SNP which disrupts heme incorporation resulting in a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685623	130	RYR1	c.7089C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685622	{35849058}	\N	\N	PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779213	318	RYR1	c.7354C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779212	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685691	130	RYR1	c.7760A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685690	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685705	130	RYR1	c.7879G>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685704	{35849058}	\N	\N	PS4_Mod, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685749	130	RYR1	c.9499C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685748	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685779	130	RYR1	c.10237A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685778	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685793	130	RYR1	c.11086G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685792	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685795	130	RYR1	c.11120G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685794	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685801	130	RYR1	c.11266C>G	Benign	Normal function	\N	n/a	3685800	{33767344}	\N	\N	BA1	{"Latino": 0.07252, "American": null, "European": 0.019045949, "East Asian": 0.05963, "Near Eastern": 0.0018488563, "Central/South Asian": 0.03271, "Sub-Saharan African": 0.00777}	f
3685837	130	RYR1	c.12149C>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685836	{35849058}	\N	\N	PS4_Mod, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685849	130	RYR1	c.12406C>A	Likely Benign	Normal function	\N	n/a	3685848	{35849058}	\N	\N	BS2_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779304	318	SLCO1B1	*14	Increased function	Increased function	\N	\N	779303	{11477075,22147369,23311897,24122874,18781850,24420746,31777781,20139798,32961594}	Strong	\N	SLCO1B1*14 is assigned increased function based on strong evidence in heterozygous and homozygous patients. The lipid-lowering response to fluvastatin is associated with the *14 allele, with greater response in the *14/*14 patients (18781850). The clearance of high-dose methotrexate is significantly faster in patients with two *14 alleles (22147369), and response to low-dose methotrexate is reduced in patients with arthritis (31777781). Exposure to atorvastatin is decreased in heterozygous and homozygous subjects (23311897). The plasma levels of highly sensitive OATP1B1 endogenous substrate GCDCA-3G are significantly lower in *14 carriers than in individuals with the SLCO1B1*1/*1 diplotype (32961594). The *14 allele is associated with increased expression of the transporter in the liver (23311897, 24122874). In vitro studies that normalize the drug uptake to the protein concentration find no increased uptake of rifampin, estrone sulfate, or estradiol 17beta-glucuronide (11477075) and one found decreased uptake of estrone sulfate and ceravistatin (23652407). Therefore, consensus among experts was increased function.	{"American": null, "European": 0.135571, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
779322	318	SLCO1B1	*23	Decreased function	No function	\N	\N	779321	{22147369}	Limited	\N	SLCO1B1*23 is assigned no function based on limited evidence in heterozygous patients and in vitro studies. A clinical study of 1 heterozygous carrier of *23 showed markedly decreased high-dose methotrexate clearance compared to wildtype, slower than a *5/*5 patient (22147369). In vitro uptake was severely diminished compared to wildtype (22147369). Computational activity predictions support the in vitro and in vivo data (22147369).Therefore, consensus among experts was no function with limited evidence.	{"American": null, "European": 0.00010, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.00010, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779336	317	SLCO1B1	*30	\N	Uncertain function	\N	\N	779335	{22147369,33658230}	Inadequate	\N	SLCO1B1*30 is assigned uncertain function based on limited in vitro evidence and limited clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369) and one in vitro study found normal protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002690	311	SLCO1B1	*39	\N	Uncertain function	\N	\N	1002689	{32082363,22232210}	Inadequate	\N	SLCO1B1*39 results in a premature stop codon and has been implicated in Rotor syndrome (32082363; 22232210). However, *39 is assigned uncertain function based on no in vitro evidence and limited clinical data describing function. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777959	335	CYP2D6	*12	\N	No function	\N	0.0	777958	{8655150,9241659,24647041,30366777}	Limited	\N	CYP2D6*12 is assigned no function based on limited evidence. CYP2D6*12 is defined by a nonsense mutation yielding a nonfunctional enzyme and was identified in a subject demonstrating markedly decreased sparteine metabolism (8655150, 9241659). Two in vitro studies found CYP2D6*12 had nondetectable enzyme activity with various substrates (24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.0063913045, "European": 0.00013778963, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002101211, "African American/Afro-Caribbean": 0.00066490064}	f
5294109	44	CYP2D6	*27x2	\N	Increased function	\N	2.0	777986	{18784265,18838503,24647041,30366777}	Limited	\N	CYP2D6*27x2 was deposited into PharmVar. CYP2D6*27 is assigned normal function based on limited evidence. Multiple in vitro studies found CYP2D6*27 demonstrated similar activity compared to wildtype with various substrates (18784265, 18838503). Although some in vitro studies found CYP2D6*27 demonstrated modestly decreased activity it was not convincing the magnitude of decreased activity was clinically significant (24647041, 30366777). Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles. Based on other normal function alleles such as *1, *2, *45, a duplication of a normal function allele is assigned an activity value of 2 and increased function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778043	335	CYP2D6	*55	\N	Decreased function	\N	0.5	778042	{18784265,24647041,30366777}	Limited	\N	CYP2D6*55 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2D6*55 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019958949, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778163	334	CYP2D6	*122	\N	Unknown function	\N	n/a	778162	{}	No Evidence	\N	CYP2D6*122 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.003}	f
779035	291	G6PD	Buenos Aires	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779034	{22293322,18086567}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779013	291	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	II/Deficient	II/Deficient	\N	\N	779012	{22293322,2263506,1953767,22963789}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00003574748, "European": 0.0, "East Asian": 0.010610976, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778941	291	G6PD	Hartford	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778940	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778771	291	G6PD	Ilesha	III/Deficient	III/Deficient	\N	\N	778770	{22293322,7959686,848857}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0011765126, "European": 0.000009013232, "East Asian": 0.0, "Central/South Asian": 0.00041928721, "African American/Afro-Caribbean": 0.00052700925}	f
778755	291	G6PD	Mt Sinai	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778754	{22293322,32387609,9452072}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778745	291	G6PD	Santa Maria	II/Deficient	II/Deficient	\N	\N	778744	{22293322,7959686,1879833,9250351}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778807	291	G6PD	Santiago	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778806	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778835	291	G6PD	Wayne	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778834	{22293322,3565372}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778873	291	G6PD	West Virginia	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778872	{22293322,7803800}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778851	291	G6PD	Wexham	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778850	{22293322,7577654}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778947	291	G6PD	Wisconsin	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778946	{22293322,16934959,7655862}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779021	291	G6PD	Yunan	Uncertain function	Uncertain function	\N	\N	779020	{22293322,11780463}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778667	292	G6PD	B (reference)	IV/Normal	IV/Normal	\N	\N	778666	{22293322,2572288}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.9772377, "European": 0.99463695, "East Asian": 0.97378683, "Central/South Asian": 0.9557555, "African American/Afro-Caribbean": 0.55657554}	t
3827889	112	MT-RNR1	m.896A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827888	{18830133}	Inadequate evidence	\N	MT-RNR1 896A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0030198046, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827909	112	MT-RNR1	m.1243T>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827908	{7550368}	Inadequate evidence	\N	MT-RNR1 1243T>C is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (7550368). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.023302607, "East Asian": 0.0006748, "Near Eastern": 0.01625, "Central/South Asian": 0.02612, "Sub-Saharan African": null}	f
3685329	130	RYR1	c.190T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685328	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685333	130	RYR1	c.251C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685332	{35849058}	\N	\N	PS3_Mod, PM1	{"Latino": null, "American": null, "European": 0.00001472, "East Asian": 0.0009731, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685429	130	RYR1	c.1565A>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685428	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685435	130	RYR1	c.1597C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685434	{33767344}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685541	130	RYR1	c.6388G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685540	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": 0.0001925, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685555	130	RYR1	c.6544A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685554	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685679	130	RYR1	c.7385C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685678	{33767344}	\N	\N	PP3_Mod	{"Latino": 0.00006543, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0002068, "Sub-Saharan African": 0.00002413}	f
779225	318	RYR1	c.7522C>G	Variant of uncertain significance	Uncertain function	\N	n/a	779224	{}	\N	\N	PS3_Mod, PM5_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685701	130	RYR1	c.7787C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685700	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00001475, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685713	130	RYR1	c.8054C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685712	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685787	130	RYR1	c.10747G>C	Benign	Normal function	\N	n/a	3685786	{33767344}	\N	\N	BA1	{"Latino": 0.007591, "American": 0.002193, "European": 0.018851086, "East Asian": 0.0003858, "Near Eastern": 0.000288, "Central/South Asian": 0.02488, "Sub-Saharan African": 0.003764}	f
3685325	130	RYR1	c.178G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685324	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": 0.00001475, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
2677014	103	CYP2D6	*151	\N	\N	\N	\N	2677013	\N	\N	\N	\N	\N	f
777685	339	CYP2C9	*9	Normal function	Normal function	\N	1.0	777684	{23752738,15284535,21811894,28758225,16220110,19164093,20716240}	Strong	\N	CYP2C9*9 is assigned normal function based on strong evidence in heterozygous patients, homozygous patients, and in vitro studies. Twenty-one subjects with CYP2C9 *1/*9 genotype and three subjects with CYP2C9 *9/*9 genotype had similar urinary excretion of a phenytoin metabolite compared to CYP2C9 *1/*1 subjects following a phenytoin 300mg dose, demonstrating CYP2C9*9 is not associated with decreased phenytoin metabolism (16220110). Seven subjects with CYP2C9 *1/*9 genotype had similar acenocoumarol plasma concentrations 8 and 24 hours after an 8mg dose compared to CYP2C9 *1/*1 subjects (21811894). Seven patients on a stable dose of warfarin with CYP2C9 *1/*9 genotype had a similar maintenance warfarin dose compared to CYP2C9 *1/*1 patients (20716240). In vitro studies demonstrated CYP2C9*9 intrinsic clearance or enzyme activity was similar compared to wildtype using warfarin and tolbutamide substrates (23752738, 15284535). Although one in vitro study showed CYP2C9*9 demonstrated decreased enzyme activity with a 7-ethoxycoumarin substrate compared to wildtype (28758225), the experts did not find this result convincing as no clinical difference was seen in patients taking acenocoumarol or warfarin, or in another in vitro study using a warfarin substrate as previously described. Although one study using the polyphen computational program to predict the functional effect of the SNP defining CYP2C9*9 predicted the substitution as possibly damaging to enzyme function, the authors also noted that this effect has not been shown in clinical phenotypic studies (19164093). Therefore, consensus among experts was normal function with an activity value of 1 based on strong evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.1295592, "African American/Afro-Caribbean": 0.0}	f
3685493	130	RYR1	c.4400A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685492	{33767344}	\N	\N	BP4	{"Latino": null, "American": null, "European": 0.0000149, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685537	130	RYR1	c.6377G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685536	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685601	130	RYR1	c.7036G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685600	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779217	318	RYR1	c.7361G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779216	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685693	130	RYR1	c.7771C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685692	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00007262}	f
2784573	135	CYP4F2	*4	\N	\N	\N	\N	2784572	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2784575	135	CYP4F2	*5	\N	\N	\N	\N	2784574	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2784577	135	CYP4F2	*6	\N	\N	\N	\N	2784576	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2784579	135	CYP4F2	*7	\N	\N	\N	\N	2784578	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318586	106	CYP4F2	*8	\N	\N	\N	\N	3318585	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318588	106	CYP4F2	*9	\N	\N	\N	\N	3318587	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318590	106	CYP4F2	*10	\N	\N	\N	\N	3318589	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318592	106	CYP4F2	*11	\N	\N	\N	\N	3318591	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318594	106	CYP4F2	*12	\N	\N	\N	\N	3318593	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318596	106	CYP4F2	*13	\N	\N	\N	\N	3318595	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318598	106	CYP4F2	*14	\N	\N	\N	\N	3318597	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
4058605	68	CYP4F2	*17	\N	\N	\N	\N	4058604	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779229	318	RYR1	c.9310G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779228	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PP1_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685839	130	RYR1	c.12242C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685838	{35849058}	\N	\N	None	{"Latino": 0.0003275, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685847	130	RYR1	c.12398A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685846	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": 0.00006549, "American": null, "European": 0.0001029, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0002075, "Sub-Saharan African": 0.00002412}	f
3685853	130	RYR1	c.12532G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685852	{33767344}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779314	317	SLCO1B1	*19	\N	Uncertain function	\N	\N	779313	{15226675,22147369,29898760,23311897}	Inadequate	\N	SLCO1B1*19 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed 1 heterozygous subject treated with pravastatin had similar pharmacokinetic parameters to subjects with wildtype alleles (15226675). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779324	317	SLCO1B1	*24	\N	Uncertain function	\N	\N	779323	{22147369}	Inadequate	\N	SLCO1B1*24 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed 2 heterozygous subjects treated with high-dose methotrexate had similar methotrexate clearance to subjects with wildtype alleles (22147369). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779308	317	SLCO1B1	*16	\N	Uncertain function	\N	\N	779307	{12811365,33658230}	Inadequate	\N	SLCO1B1*16 is assigned uncertain function based on limited in vitro evidence and clinical data. One clinical study showed 2 heterozygous subjects treated with pravastatin had similar pharmacokinetic parameters to subjects with wildtype alleles and one invitro study found normal protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": 0.0005718263, "Oceanian": null, "East Asian": 0.0045032115, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002688	311	SLCO1B1	*38	\N	Uncertain function	\N	\N	1002687	{11477075}	Inadequate	\N	SLCO1B1*38 is assigned uncertain function based on limited in vitro evidence and limited clinical data. One study showed similar estrone sulfate transport compared to the *1 allele, but reduced estradiol 17β-d-glucuronide (11477075). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002704	311	SLCO1B1	*46	\N	No function	\N	\N	1002703	{22232210,11477075,32961594,21245207}	Limited	\N	SLCO1B1*46 results in a premature stop codon that has been implicated in Rotor syndrome (22232210) and the rs4149056C>T variant present in *5. Based on evidence supporting the function of rs4149056C>T (11477075, 32961594, 21245207), SLCO1B1*46 is assigned no function with limited evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002706	311	SLCO1B1	*47	\N	No function	\N	\N	1002705	{33658230,11477075,32961594,21245207}	Limited	\N	SLCO1B1*47 is assigned no function due to no literature describing function of this allele. It contains 3 variants, rs2306283, rs4149056, both included in the no function *15 allele and rs72559747. One in vitro study found normal protein expression and transport for the rs72559747 variant (33658230). Based on evidence supporting the function of rs4149056C>T (11477075, 32961594, 21245207), SLCO1B1*47 is assigned no function with limited evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1357094	300	SLCO1B1	*49	\N	No function	\N	\N	1357093	{22232210}	Limited	\N	SLCO1B1*48 is assigned no function due to evidence supporting a partial gene deletion (22232210). Therefore, consensus among experts was no function due to limited evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777707	339	CYP2C9	*20	Uncertain function	Uncertain function	\N	n/a	777706	{23752738}	Inadequate evidence	\N	CYP2C9*20 is assigned uncertain function due to inadequate evidence. In one in vitro study, CYP2C9*20 demonstrated decreased enzyme activity compared to wildtype with a warfarin and tolbutamide substrate (23752738). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777709	339	CYP2C9	*21	Uncertain function	Uncertain function	\N	n/a	777708	{23752738}	Inadequate evidence	\N	CYP2C9*21 is assigned uncertain function due to inadequate evidence. In one in vitro study, CYP2C9*21 demonstrated no enzyme activity compared to wildtype with a warfarin and tolbutamide substrate (23752738). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"Latino": 0.00030, "American": null, "European": 0.00010, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779095	113	NUDT15	*16	\N	\N	\N	\N	779094	\N	\N	\N	\N	\N	f
777717	339	CYP2C9	*25	No function	No function	\N	0.0	777716	{23752738,16788382}	Limited	\N	CYP2C9*25 is assigned no function based on limited evidence. CYP2C9*25 is defined by a deletion which leads to a frameshift resulting in an early stop codon and truncated protein. This was demonstrated in an in vitro study where CYP2C9*25 had similar mRNA levels compared to wildtype but no protein expression (16788382). CYP2C9*25 was not included in subsequent in vitro studies because it is it is a null allele resulting in no protein formation (23752738). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.002, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779042	56	IFNL3	rs12979860 reference (C)	\N	\N	\N	\N	779041	\N	\N	\N	\N	\N	t
779044	56	IFNL3	rs12979860 variant (T)	\N	\N	\N	\N	779043	\N	\N	\N	\N	\N	f
777727	339	CYP2C9	*30	Decreased function	Decreased function	\N	0.5	777726	{23752738,19541829,16788382}	Limited	\N	CYP2C9*30 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*30 demonstrated decreased clearance compared to wildtype. These studies used different cell systems and substrates included warfarin, tolbutamide, diclofenac, losartan, and glimepiride (23752738, 19541829, 16788382). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0015598785, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779083	113	NUDT15	*10	\N	\N	\N	\N	779082	\N	\N	\N	\N	\N	f
777739	339	CYP2C9	*36	Uncertain function	Uncertain function	\N	n/a	777738	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*36 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*36 demonstrated enzyme activity ranging from markedly decreased to markedly increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778219	332	CYP3A5	*1	\N	Normal function	\N	\N	778218	{12893984}	\N	\N	12893984: testosterone, nifedipine (in vitro)	{"Latino": 0.17279238, "European": 0.07410407, "East Asian": 0.25355196, "Near Eastern": 0.121941924, "Central/South Asian": 0.32672024, "Sub-Saharan African": 0.47940862, "African American/Afro-Caribbean": 0.4528548}	t
778223	332	CYP3A5	*3	\N	No function	\N	\N	778222	{15179407}	\N	\N	15179407: midalozam (in vivo)	{"Latino": 0.7651353, "European": 0.9243815, "East Asian": 0.7457923, "Near Eastern": 0.83611745, "Central/South Asian": 0.67327976, "Sub-Saharan African": 0.24094562, "African American/Afro-Caribbean": 0.31597915}	f
778229	331	CYP3A5	*6	\N	No function	\N	\N	778228	{11279519}	\N	\N	\N	{"Latino": 0.037054006, "European": 0.0015144596, "East Asian": 0.0006557377, "Near Eastern": 0.038085584, "Central/South Asian": 0.0, "Sub-Saharan African": 0.19323565, "African American/Afro-Caribbean": 0.11116607}	f
2677012	103	CYP2D6	*150	\N	\N	\N	\N	2677011	\N	\N	\N	\N	\N	f
777751	339	CYP2C9	*42	No function	No function	\N	0.0	777750	{24077631,24118918,25142737,25144335,25476996,25614704,25832633,25951663,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*42 is assigned no function based on limited evidence in one heterozygous patient and in vitro studies. One subject with CYP2C9*1/*42 genotype exhibited twice the AUC and less than half the oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). Multiple in vitro studies found CYP2C9*42 demonstrated markedly decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 25924705, 27163851, 23844998, 25614704). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.00010, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.01, "Near Eastern": 0.00054534996, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777753	339	CYP2C9	*43	No function	No function	\N	0.0	777752	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,27163851,23844998}	Limited	\N	CYP2C9*43 is assigned no function based on limited evidence in in vitro studies. Multiple in vitro studies found CYP2C9*43 demonstrated markedly decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 27163851, 23844998). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00010, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777755	339	CYP2C9	*44	Decreased function	Decreased function	\N	0.5	777754	{24077631,24118918,25142737,25144335,25476996,25832633,25951663,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*44 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*44 demonstrated decreased clearance compared to wildtype (24118918, 25476996, 25144335, 25832633, 25951663, 25884291, 25924705, 23844998, 24077631). Although two in vitro studies showed CYP2C9*44 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 which definitively has decreased function, demonstrated increased or similar activity compared to wildtype in these studies (25142737, 27163851). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.00030, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777761	339	CYP2C9	*47	Uncertain function	Uncertain function	\N	n/a	777760	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25924705,25951663,27163851,23844998}	Inadequate evidence	\N	CYP2C9*47 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*47 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25924705, 25951663, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778231	332	CYP3A5	*7	\N	No function	\N	\N	778230	{14515058}	\N	\N	14515058: midazolam (in vitro)	{"Latino": 0.02501835, "European": 0.0, "East Asian": 0.0, "Near Eastern": 0.00385505, "Central/South Asian": null, "Sub-Saharan African": 0.08641013, "African American/Afro-Caribbean": 0.12}	f
778233	331	CYP3A5	*8	\N	Unknown function	\N	\N	778232	{}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777765	339	CYP2C9	*49	Uncertain function	Uncertain function	\N	n/a	777764	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,27163851,23844998}	Inadequate evidence	\N	CYP2C9*49 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*49 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777767	339	CYP2C9	*50	Decreased function	Decreased function	\N	0.5	777766	{24077631,24118918,25142737,25144335,25951663,25476996,25832633,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*50 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*50 demonstrated decreased clearance compared to wildtype for multiple substrates (24077631, 24118918, 25476996, 25144335, 25951663, 25832633, 25884291, 27163851, 25142737, 25924705, 23844998). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777769	339	CYP2C9	*51	Uncertain function	Uncertain function	\N	n/a	777768	{24077631,24118918,25142737,25144335,25951663,25476996,25832633,25884291,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*51 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*51 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25951663, 25476996, 25832633, 25884291, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779510	173	VKORC1	rs9923231 variant (T)	\N	\N	\N	\N	779509	\N	\N	\N	\N	{"Latino": 0.39330897, "American": 0.6160526, "European": 0.4132605, "East Asian": 0.8664911, "Near Eastern": 0.45357868, "Central/South Asian": 0.15644945, "Sub-Saharan African": 0.107742354, "African American/Afro-Caribbean": 0.101332836}	f
779508	173	VKORC1	rs9923231 reference (C)	\N	\N	\N	\N	779507	\N	\N	\N	\N	{"Latino": 0.606691, "American": 0.38394737, "European": 0.58673954, "East Asian": 0.13350892, "Near Eastern": 0.5464213, "Central/South Asian": 0.84355056, "Sub-Saharan African": 0.89225763, "African American/Afro-Caribbean": 0.89866716}	t
1508725	321	ABCG2	rs2231142 reference (G)	\N	Normal function	\N	\N	1508724	{}	\N	\N	\N	{"Latino": 0.7756, "American": 0.8, "European": 0.8964, "Oceanian": 0.7952753, "East Asian": 0.6929, "Near Eastern": 0.9347, "Central/South Asian": 0.9068, "Sub-Saharan African": 0.994154, "African American/Afro-Caribbean": 0.9651338}	f
778235	331	CYP3A5	*9	\N	Unknown function	\N	\N	778234	{}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777267	339	CACNA1S	c.3257G>A	Uncertain function	Malignant Hyperthermia associated	\N	\N	777266	{9199552,11260227,12411788,16163667,15201141}	\N	\N	9199552: positive IVCT; 11260227: positive IVCT; 12411788: positive IVCT; 16163667: positive IVCT; 15201141: Similar to that observed for MH mutations in RYR1, the R1086H MH mutation in the 1S-subunit of the skeletal muscle DHPR increases the sensitivity of the calcium release mechanism to activation by both pharmacological (caffeine) and endogenous (voltage sensor) activators. Threshold for caffeine-induced calcium release is approximately fivefold lower in R1086H- expressing myotubes. Increased "sensitivity" of RYR1 to activation by caffeine may be a consequence of an elevated resting calcium level in R1086H- expressing myotubes. The data suggest that the intracellular III-IV linker of the DHPR acts as a negative regulatory module for release channel activation and that the R1086H MH mutation in 1S disrupts this critical negative allosteric regulatory mechanism.	{"Latino": 0.00002891, "European": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0}	f
779067	319	NUDT15	*2	\N	No function	\N	\N	779066	{26878724}	\N	undetectable enzymatic activity in vitro	\N	{"Latino": 0.0365, "European": 0.0, "East Asian": 0.035, "Central/South Asian": 0.0}	f
777308	207	CFTR	ivacaftor non-responsive CFTR sequence	\N	ivacaftor non-responsive	\N	\N	777307	{}	\N	\N	\N	\N	f
777316	207	CFTR	711+3A->G	\N	ivacaftor responsive	\N	\N	777315	{}	\N	ACMG screening panel	\N	\N	f
777322	207	CFTR	D110E	\N	ivacaftor responsive	\N	\N	777321	{}	\N	\N	\N	\N	f
777324	207	CFTR	D110H	\N	ivacaftor responsive	\N	\N	777323	{}	\N	\N	\N	\N	f
777332	207	CFTR	E193K	\N	ivacaftor responsive	\N	\N	777331	{}	\N	\N	\N	\N	f
777334	207	CFTR	E56K	\N	ivacaftor responsive	\N	\N	777333	{}	\N	\N	\N	\N	f
777348	207	CFTR	G178R	\N	ivacaftor responsive	\N	\N	777347	{}	\N	\N	\N	\N	f
777356	207	CFTR	L206W	\N	ivacaftor responsive	\N	\N	777355	{}	\N	\N	\N	\N	f
777358	207	CFTR	P67L	\N	ivacaftor responsive	\N	\N	777357	{}	\N	\N	\N	\N	f
777372	207	CFTR	R74W	\N	ivacaftor responsive	\N	\N	777371	{}	\N	\N	\N	\N	f
777807	321	CYP2C9	*70	Uncertain function	Uncertain function	\N	n/a	777806	{33536773}	Inadequate evidence	\N	CYP2C9*70 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variants present in CYP2C9*70 are predicted to be deleterious in SIFT and and benign in Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777809	321	CYP2C9	*71	Uncertain function	Uncertain function	\N	n/a	777808	{}	Inadequate evidence	\N	CYP2C9*71 is assigned uncertain function due to limited literature describing function of this allele. This allele has the same variants as *10 (uncertain function) and *12 (decreased function) but no literature supporting the function for *71. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1406316	321	CYP2C9	*72	Unknown function	Unknown function	\N	n/a	1406315	{}	No evidence	\N	CYP2C9*72 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777423	339	CYP2B6	*1	\N	Normal function	\N	\N	777422	{}	\N	\N	\N	{"Latino": 0.49736506, "European": 0.49070138, "Oceanian": 0.34000003, "East Asian": 0.64004594, "Near Eastern": 0.476, "Central/South Asian": 0.6084849, "Sub-Saharan African": 0.31465185, "African American/Afro-Caribbean": 0.41346413}	t
777441	339	CYP2B6	*10	\N	Uncertain function	\N	\N	777440	{21746968,30201214}	Inadequate	\N	CYP2B6*10 (c.62A>T, p.Q21L and c.64C>T, p.R22C) - Uncertain function: CYP2B6*10 is assigned uncertain function. In vitro studies using cDNA expression systems (21746968, 30201214) demonstrated decreased enzyme activity compared to the *1 reference. However, consensus among experts was uncertain function based on inadequate evidence as it could not be determined if diplotypes containing this allele would be phenotypically distinct from diplotypes comprising two normal function alleles.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777461	339	CYP2B6	*21	No or decreased function	Uncertain function	\N	\N	777460	{16272958,20517174,21746968,30201214}	Inadequate	\N	CYP2B6*21 (c.1282C>A, p.P428T) – Uncertain function: CYP2B6*21 is assigned uncertain function. In vitro studies using cDNA expression systems found no or severely decreased enzyme activity for CYP2B6*21 (20517174, 21746968, 16272958, 30201214). However, there was no in vivo data available or data in human liver microsomes. Therefore, the consensus among experts was uncertain function based on inadequate evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0127297295, "African American/Afro-Caribbean": 0.0}	f
779479	113	TPMT	*42	\N	\N	\N	\N	779478	\N	\N	\N	\N	\N	f
779451	317	TPMT	*28	\N	Uncertain function	\N	\N	779450	{20945351}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777425	339	CYP2B6	*2	Normal function	Normal function	\N	\N	777424	{12642465,17559344,21896912,22471906,23254426,23399569,26655325,30201214}	Strong	\N	CYP2B6*2 (c.64C>T, p.R22C) - Normal function: CYP2B6*2 is assigned normal function based on in vivo (heterozygous patients) and in vitro studies. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that CYP2B6*2 heterozygotes had similar efavirenz plasma concentrations compared to the *1 reference (21896912, 22471906, 23254426, 23399569). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months, similarly found that CYP2B6*2 did not impact long term efavirenz exposure (26655325). Additionally, one in vitro study using human liver microsomes (17559344) and two in vitro studies using cDNA expression systems (12642465, 30201214) found that CYP2B6*2 had similar enzyme activity compared to the *1 reference. Therefore, consensus among experts was normal function based on strong evidence.	{"Latino": 0.044, "European": 0.04917699, "Oceanian": 0.0, "East Asian": 0.045823272, "Near Eastern": 0.039, "Central/South Asian": 0.041, "Sub-Saharan African": 0.031, "African American/Afro-Caribbean": 0.031030929}	f
777427	339	CYP2B6	*3	\N	Uncertain function	\N	\N	777426	{12642465,30201214}	Inadequate	\N	CYP2B6*3 (c.777C>A, p.S259R) - Uncertain function: CYP2B6*3 is assigned uncertain function. In vitro studies using cDNA expression systems demonstrated that CYP2B6*3 had similar enzyme activity or slightly decreased activity compared to the *1 reference (12642465, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": 0.0018442405, "European": 0.00213266, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0024408852, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0022592593}	f
777445	339	CYP2B6	*12	No function	No function	\N	\N	777444	{15190123,20517174,21746968,30201214}	Limited	\N	CYP2B6*12 (c.296G>A, p.G99E) - No function: CYB2B6*12 is assigned no function. Multiple in vitro studies using human liver microsomes (15190123) and cDNA expression systems (20517174, 21746968, 30201214) found that CYP2B6*12 has no protein expression or enzyme activity compared to the *1 reference with various substrates. Therefore, consensus among experts was no function based on limited evidence.	{"Latino": 0.000541036, "European": 0.00006630849, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777465	338	CYP2B6	*23	\N	Uncertain function	\N	\N	777464	{21746968,30201214}	Inadequate	\N	CYP2B6*23 (c.1375A>G, p.M459V) – Uncertain function: CYP2B6*23 is assigned uncertain function. One in vitro cDNA expression study found evidence of higher expression which did not cause a change in activity (30201214), while another study showed slightly increased activity (21746968). Therefore, the consensus among experts was uncertain function based on inadequate evidence.	{"Latino": 0.0, "European": 0.00005515508, "Oceanian": null, "East Asian": 0.002063492, "Near Eastern": null, "Central/South Asian": 0.000043009855, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779453	317	TPMT	*29	\N	No function	\N	\N	779452	{22447118}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0002899, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779069	319	NUDT15	*3	\N	No function	\N	\N	779068	{26878724}	\N	undetectable enzymatic activity in vitro	\N	{"Latino": 0.0075, "European": 0.002, "East Asian": 0.0605, "Central/South Asian": 0.067}	f
779071	319	NUDT15	*4	\N	Uncertain function	\N	\N	779070	{26878724}	\N	23.6 Vmax/Km	\N	{"Latino": 0.01786, "European": 0.00003285361, "East Asian": 0.0011128682, "Central/South Asian": 0.00003269}	f
777545	339	CYP2C19	*7	\N	No function	\N	\N	777544	{10411572}	Limited	\N	CYP2C19*7 is assigned no function based on limited evidence in a heterozygous subject. CYP2C19*7 is defined by a splicing defect and was described in a subject demonstrating decreased metabolism of mephenytoin based on urine metabolite concentrations after three separate phenotyping studies (10411572). Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00011376564, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777567	339	CYP2C19	*18	\N	Normal function	\N	\N	777566	{17455109,18312490,21325430,25001882}	Limited	\N	CYP2C19*18 is assigned normal function based on limited evidence. Four in vitro studies found CYP2C19*18 demonstrated similar intrinsic clearance compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (17455109, 18312490, 25001882, 21325430). Therefore, consensus among experts was normal function based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.019867808, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777535	339	CYP2C19	*2	\N	No function	\N	\N	777534	{8195181,22027650}	Definitve	\N	CYP2C19*2 is assigned no function based on definitive evidence. CYP2C19*2 has been studied for more than 20 years and its association with impaired function is well-established (8195181, 22027650). CYP2C19*2 is defined by splicing defects resulting in a truncated protein lacking a heme binding region, making it a nonfunctional protein. CYP2C19*2 was first identified in a homozygous subject demonstrating decreased mephenytoin metabolism and was subsequently identified in seventeen additional subjects demonstrating decreased mephenytoin metabolism (8195181). Therefore, consensus among experts was no function based on definitive evidence.	{"Latino": 0.104187496, "American": 0.121365316, "European": 0.14685704, "Oceanian": 0.6095202, "East Asian": 0.28352264, "Near Eastern": 0.11984708, "Central/South Asian": 0.269916, "Sub-Saharan African": 0.15684253, "African American/Afro-Caribbean": 0.18149492}	f
777537	339	CYP2C19	*3	\N	No function	\N	\N	777536	{7969038,9103550,22027650}	Definitve	\N	CYP2C19*3 is assigned no function based on definitive evidence. CYP2C19*3 has been studied for more than 20 years and its association with impaired function is well-established (7969038, 9103550, 22027650). CYP2C19*3 is defined by an early stop codon resulting in a truncated protein lacking a heme binding region and a majority of the substrate binding region, making it a nonfunctional protein. CYP2C19*3 was first identified in a homozygous subject demonstrating decreased mephenytoin metabolism and was subsequently identified in six additional subjects demonstrating decreased mephenytoin metabolism (7969038).	{"Latino": 0.00082841824, "American": 0.00035169988, "European": 0.0016180738, "Oceanian": 0.14638089, "East Asian": 0.07247335, "Near Eastern": 0.016479162, "Central/South Asian": 0.015685236, "Sub-Saharan African": 0.0026677323, "African American/Afro-Caribbean": 0.0027567567}	f
777583	339	CYP2C19	*29	\N	Uncertain function	\N	\N	777582	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*29 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*29 demonstrated modest decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and voriconazole substrates (26153442, 30464555). One in vitro study found increased clearance relative to wild-type for nebivolol (29098786). Consensus was not achieved among experts as data were sparse and conflicting and it was not convincing the magnitude of decreased activity was clinically significant. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00017527216, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777533	339	CYP2C19	*1	\N	Normal function	\N	\N	777532	{7487078,32602114,22027650,29325448,33237321}	Definitve	\N	CYP2C19*1 is assigned normal function based on definitive evidence. CYP2C19*1 has been studied for more than 20 years and is the most frequently observed allele (7487078, 32602114). CYP2C19*1 has repeatedly demonstrated normal function with numerous substrates and its association with normal function is well-established (22027650, 29325448, 33237321).	{"Latino": 0.7165527, "American": 0.7921841, "European": 0.62514144, "Oceanian": 0.18709892, "East Asian": 0.59554905, "Near Eastern": 0.67225105, "Central/South Asian": 0.543626, "Sub-Saharan African": 0.55150676, "African American/Afro-Caribbean": 0.54676163}	t
779455	317	TPMT	*30	\N	Unknown function	\N	\N	779454	{23407052,16946561}	\N	\N	\N	{"Latino": 0.0001489, "European": 0.000014929322, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777601	322	CYP2C19	*39	\N	Uncertain function	\N	\N	777600	{21692664,21325430}	Inadequate	\N	CYP2C19*39 is assigned uncertain function due to inadequate data. Currently, there is no published evidence describing the function of the CYP2C19*39 allele. One in vitro study for 12718A>C (E122A) determined the metabolic activities towards CEC(3-cyano-7-ethoxycoumarin) O-deethylation and concluded decreased function for this variant (21692664) and another study found the Clint for S-mephenytoin is not significantly different and for omeprazole decreased to 0.27 fold compared to no variant (21325430). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5175551	24	CYP2D6	*173	\N	\N	\N	\N	5175550	\N	\N	\N	\N	\N	f
777669	338	CYP2C9	*1	Normal function	Normal function	\N	1.0	777668	{}	\N	\N	\N	{"Latino": 0.86221933, "American": 0.9118648, "European": 0.79275, "Oceanian": 0.95511305, "East Asian": 0.91534376, "Near Eastern": 0.7818267, "Central/South Asian": 0.7721189, "Sub-Saharan African": 0.7255106, "African American/Afro-Caribbean": 0.8710129}	t
1932986	114	CYP2C9	*76	\N	\N	\N	\N	1932985	\N	\N	\N	\N	\N	f
1932988	114	CYP2C9	*77	\N	\N	\N	\N	1932987	\N	\N	\N	\N	\N	f
1932990	114	CYP2C9	*78	\N	\N	\N	\N	1932989	\N	\N	\N	\N	\N	f
1932992	114	CYP2C9	*79	\N	\N	\N	\N	1932991	\N	\N	\N	\N	\N	f
1932998	114	CYP2C9	*82	\N	\N	\N	\N	1932997	\N	\N	\N	\N	\N	f
1932996	114	CYP2C9	*81	\N	\N	\N	\N	1932995	\N	\N	\N	\N	\N	f
777681	339	CYP2C9	*7	Uncertain function	Uncertain function	\N	n/a	777680	{15284535,23752738}	Inadequate evidence	\N	CYP2C9*7 is assigned uncertain function based on inadequate evidence due to conflicting in vitro data and no clinical data. In an in vitro study CYP2C9*7 demonstrated 47% warfarin clearance compared to wildtype, however, similar tolbutamide clearance compared to wildtype was demonstrated in the same study as well as a separate study (23752738, 15284535). Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777687	339	CYP2C9	*10	Uncertain function	Uncertain function	\N	n/a	777686	{23752738,28758225,15284535}	Inadequate evidence	\N	CYP2C9*10 is assigned uncertain function based on conflicting in vitro data and no clinical data. Although CYP2C9*10 demonstrated decreased warfarin clearance (23752738) it also demonstrated similar activity with a tolbutamide substrate (15284535) and activity ranging from decreased to normal with 7-ethoxycoumarin, flavanone, and steroid substrates (28758225) compared to wildtype. Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779457	317	TPMT	*31	\N	Uncertain function	\N	\N	779456	{23407052,20881512}	\N	\N	\N	{"Latino": 0.0, "European": 0.0000074631716, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777781	339	CYP2C9	*57	Unknown function	Unknown function	\N	n/a	777780	{}	No evidence	\N	CYP2C9*57 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779459	317	TPMT	*32	\N	Uncertain function	\N	\N	779458	{25564374,23252716}	\N	\N	\N	{"Latino": 0.0, "European": 0.000029890569, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777673	339	CYP2C9	*3	Decreased function	No function	\N	0.0	777672	{8809086,29283396,20150829,15637526,12742136,10413320,27179628,25775139,19082874,30088221}	Definitive	\N	CYP2C9*3 is assigned no function based on definitive evidence in homozygous and heterozygous patients and in vitro experimental data. CYP2C9*3 has been studied for more than 20 years and its association with impaired function compared to wildtype is well-established (8809086, 29283396, 20150829, 15637526). This allele was previously assigned "decreased function" but after reevaluation of prior and new evidence, CYP2C9*3 is assigned "no function" because its activity is much more decreased compared to CYP2C9*2 for multiple substrates, resulting in the lowest possible designation for the phenotypes observed in homozygous patients (12742136, 10413320, 27179628, 25775139, 19082874, 30088221). Therefore, consensus among experts was no function with an activity value of 0 based on definitive evidence.	{"Latino": 0.040156696, "American": 0.030054513, "European": 0.07554484, "Oceanian": 0.015575971, "East Asian": 0.037616692, "Near Eastern": 0.08251466, "Central/South Asian": 0.10985958, "Sub-Saharan African": 0.011155454, "African American/Afro-Caribbean": 0.01350592}	f
1933000	114	CYP2C9	*83	\N	\N	\N	\N	1932999	\N	\N	\N	\N	\N	f
1933002	114	CYP2C9	*84	\N	\N	\N	\N	1933001	\N	\N	\N	\N	\N	f
1933004	114	CYP2C9	*85	\N	\N	\N	\N	1933003	\N	\N	\N	\N	\N	f
779461	317	TPMT	*33	\N	Uncertain function	\N	\N	779460	{23252716}	\N	\N	\N	{"Latino": 0.00008729, "European": 0.000039384588, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.00003256, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778123	334	CYP2D6	*102	\N	Unknown function	\N	n/a	778122	{}	No Evidence	\N	CYP2D6*102 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0033, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777937	338	CYP2D6	*1	\N	Normal function	\N	1.0	777936	{}	\N	\N	\N	{"Latino": 0.36455274, "American": 0.5164585, "European": 0.28500712, "Oceanian": 0.6170194, "East Asian": 0.25353962, "Near Eastern": 0.24876314, "Central/South Asian": 0.29324096, "Sub-Saharan African": 0.15676576, "African American/Afro-Caribbean": 0.21115738}	t
3685469	130	RYR1	c.3095G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685468	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.0002646, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004829}	f
779463	317	TPMT	*34	\N	Uncertain function	\N	\N	779462	{23252716}	\N	\N	\N	{"Latino": 0.0, "European": 0.0000074709346, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0005848, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779465	317	TPMT	*35	\N	Unknown function	\N	\N	779464	{23252704}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685471	130	RYR1	c.3127C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685470	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": 0.0002882, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
779467	317	TPMT	*36	\N	Unknown function	\N	\N	779466	{23252704}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685757	130	RYR1	c.9676G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685756	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
1609528	241	CYP2D6	*148	\N	Unknown function	\N	n/a	1609527	{}	No Evidence	\N	CYP2D6*148 is assigned unknown function. CYP2D6*148 is defined by four SNPs of which two are found on the normal function *2 allele. 77G>A (R26H) is found on the *43 allele and the normal function *46 allele, and the forth SNP (3854G>A, E480K) is present on the normal function *27 allele. Since the functional impact of 993C>G is unknown, consensus among experts was unknown function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1103382	241	CYP2D6	*149	\N	Unknown function	\N	n/a	1103381	{}	No Evidence	\N	CYP2D6*149 is assigned unknown function. CYP2D6*149 is defined by six SNPs of which five are found on the decreased function *29 allele. 993C>G (D97E) has only been found on *149. Since the functional impact of 993C>G is unknown, consensus among experts was unknown function.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.001, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0026, "African American/Afro-Caribbean": 0.0}	f
2091237	239	CYP2D6	*152	\N	Unknown function	\N	n/a	2091236	{}	No Evidence	\N	CYP2D6*152 is assigned unknown function due to no literature describing function of this allele. CYP2D6*152 is defined by a single SNP that is not present in any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
2091239	239	CYP2D6	*153	\N	Unknown function	\N	n/a	2091238	{}	No Evidence	\N	CYP2D6*153 is assigned unknown function due to no literature describing function of this allele. CYP2D6*153 is defined by one SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
778332	332	DPYD	c.61C>T	No function	No function	\N	0.0	778331	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778330	332	DPYD	c.46C>G	Normal function	Normal function	\N	1.0	778329	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013740047, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778334	332	DPYD	c.62G>A	Normal function	Normal function	\N	1.0	778333	{24648345}	Moderate	This rsID was orginially described as part of the *12 allele but based on more recent data this designation has changed.	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000037312337, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778340	326	DPYD	c.313G>A	Normal function	Normal function	\N	1.0	778339	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0000136468225, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778342	326	DPYD	c.343A>G	Normal function	Normal function	\N	1.0	778341	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013736458, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778344	326	DPYD	c.451A>G	Normal function	Normal function	\N	1.0	778343	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.011174424, "European": 0.000013283231, "East Asian": 0.00035729833, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778346	326	DPYD	c.496A>G	Normal function	Normal function	\N	1.0	778345	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.036260653, "European": 0.11037259, "East Asian": 0.015562055, "Central/South Asian": 0.085167445, "Sub-Saharan African": 0.03082738, "African American/Afro-Caribbean": 0.03187898}	f
778348	326	DPYD	c.498G>A	Normal function	Normal function	\N	1.0	778347	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778328	202	DPYD	Reference	Normal function	Normal function	\N	1.0	778327	{38129972}	\N	\N	Individual patients have been reported (PMID 38129972) to carry only one of the two SNPs in the HapB3 haplotype (i.e., c.1236G>A without c.1129-5923C>G), suggesting that the two variants are not in complete linkage disequilibrium. To address this, c.1129-5923C>G SNP is listed separately as this is likely the causal variant leading to decreased function. The HapB3 haplotype definition was also retained for cases where only the c.1236G>A variant is tested (e.g. whole exome sequencing). While CPIC recommends to directly test the causal SNP if possible, in cases where only c.1236G>A is tested or results are available for, it should be clearly stated in the test report that "decreased function" was inferred by detecting the exonic tag SNP, and disclose that in rare cases, the causal decreased function variant c.1129-5923C>G may not be present despite having this tag SNP.	\N	f
778456	320	DPYD	c.2303C>A	Normal function	Normal function	\N	1.0	778455	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0018162305, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778458	320	DPYD	c.2336C>A	Normal function	Normal function	\N	1.0	778457	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013281931, "East Asian": 0.0010211836, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778460	320	DPYD	c.2482G>A	Normal function	Normal function	\N	1.0	778459	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0001131909, "East Asian": 0.0, "Central/South Asian": 0.000089115194, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778462	320	DPYD	c.2582A>G	Normal function	Normal function	\N	1.0	778461	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.00029061755, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778464	320	DPYD	c.2623A>C	Normal function	Normal function	\N	1.0	778463	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00028225806, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778466	320	DPYD	c.2639G>T	No function	No function	\N	0.0	778465	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.00070, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778468	320	DPYD	c.2656C>T	Normal function	Normal function	\N	1.0	778467	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00010, "European": 0.00036403185, "East Asian": 0.00010, "Central/South Asian": 0.001, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778470	320	DPYD	c.2657G>A (*9B)	Normal function	Normal function	\N	1.0	778469	{24648345}	Moderate	This rsID, when combined with rs1801265 makes up DPYD*9B	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013373986, "East Asian": 0.00032379513, "Central/South Asian": 0.00016493561, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778472	320	DPYD	c.2846A>T	Decreased function	Decreased function	\N	0.5	778471	{24648345}	Strong	\N	5-fluorouracil (in vitro)	{"Latino": 0.0020888615, "European": 0.0037400308, "East Asian": 0.0, "Central/South Asian": 0.000640429, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0031082802}	f
778474	320	DPYD	c.2872A>G	No function	No function	\N	0.0	778473	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00001364737, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778476	320	DPYD	c.2915A>G	Normal function	Normal function	\N	1.0	778475	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00008924864, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.00922293}	f
778478	320	DPYD	c.2921A>T	Normal function	Normal function	\N	1.0	778477	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778480	320	DPYD	c.2933A>G	No function	No function	\N	0.0	778479	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778715	291	G6PD	202G>A_376A>G_1264C>G	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778714	{18677765,22293322}	limited	\N	Function assigned based on the WHO recommendations and in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778753	291	G6PD	A	IV/Normal	IV/Normal	\N	\N	778752	{1303173,22293322,32387609,3446582}	moderate	\N	Although originally classified as a WHO class III/decreased function variant (3446582, 22293322), recent studies show that the catalytic activity and structural stability of G6PD A is similar to that of the WT enzyme (32387609, 1303173). Therefore, consensus among experts was IV/Normal function due to moderate evidence.	{"Latino": 0.014873203, "European": 0.00054859073, "East Asian": 0.0, "Central/South Asian": 0.0007337911, "African American/Afro-Caribbean": 0.3183956}	f
778703	291	G6PD	Amazonia	II/Deficient	II/Deficient	\N	\N	778702	{22293322,12367584}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778847	291	G6PD	Sugao	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778846	{22293322,11594515}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778983	291	G6PD	Sumare	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778982	{22293322,9298828}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
828096	202	MT-RNR1	Reference	\N	Normal risk of aminoglycoside-induced hearing loss	\N	\N	828095	{27654872}	\N	\N	27654872: N/A	\N	f
3827893	112	MT-RNR1	m.951G>A	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827892	{18830133,18851951}	Inadequate evidence	\N	MT-RNR1 951G>A is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in two studies (18830133, 18851951). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.012948994, "East Asian": 0.003374, "Near Eastern": 0.0, "Central/South Asian": 0.0006698, "Sub-Saharan African": null}	f
3827905	112	MT-RNR1	m.1095T>C	\N	increased risk of aminoglycoside-induced hearing loss	\N	\N	3827904	{11079536,11313749,15555598,15841390,16875663,21205314}	Moderate	\N	MT-RNR1 1095T>C is assigned an increased risk of aminoglycoside-induced hearing loss based on moderate evidence. Screening of individuals or probands of individuals with aminoglycoside-hearing looss identified 1095T>C in a number of cases (11079536, 11313749, 15555598, 15841390, 16875663, 21205314). Therefore, consensus among experts was this variant is associated with increased risk of aminoglycoside-induced hearing loss based on moderate evidence.	{"European": 0.00057115, "East Asian": 0.001464755, "Near Eastern": 0.0, "Central/South Asian": 0.0006698, "Sub-Saharan African": 0.0}	f
779099	113	NUDT15	*18	\N	\N	\N	\N	779098	\N	\N	\N	\N	\N	f
779101	113	NUDT15	*19	\N	\N	\N	\N	779100	\N	\N	\N	\N	\N	f
3827895	112	MT-RNR1	m.960C>del	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827894	{18851951}	Inadequate evidence	\N	MT-RNR1 960C>del is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18851951). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3827897	112	MT-RNR1	m.961T>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827896	{18830133}	Inadequate evidence	\N	MT-RNR1 961T<G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. One report of normal hearing after aminoglycoside hearing loss in an invidual carrying this variant (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0136944335, "East Asian": 0.0, "Near Eastern": 0.004947, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0}	f
3827899	112	MT-RNR1	m.961T>del	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827898	{15917167}	Inadequate evidence	\N	MT-RNR1 961T>del is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. In one study, 961T>del was detected in subjects in all four cohorts (no statistically significant difference in allele frequency between the groups). Pedigree analysis showed that T961del and the hearing loss phenotype did not co-segregate (15917167). Therefore, consensus among experts is that there is uncertain risk of aminoglycoside-induced hearing loss associated with this variant.	{"European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779073	319	NUDT15	*5	\N	Uncertain function	\N	\N	779072	{26878724}	\N	27.7 Vmax/Km; *3/*5 patient has same intolerance to MP as *3/*3 patient	\N	{"Latino": 0.0, "European": 0.000007794928, "East Asian": 0.01108, "Central/South Asian": 0.0004482}	f
779075	319	NUDT15	*6	\N	Uncertain function	\N	\N	779074	{26878724}	\N	14.9 Vmax/Km	\N	{"Latino": 0.0015, "European": 0.003, "East Asian": 0.013, "Central/South Asian": 0.002}	f
779077	319	NUDT15	*7	\N	Uncertain function	\N	\N	779076	{28659275}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0005654, "Central/South Asian": 0.0}	f
779079	319	NUDT15	*8	\N	Uncertain function	\N	\N	779078	{28659275}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null}	f
779081	319	NUDT15	*9	\N	No function	\N	\N	779080	{28659275,30728528}	\N	\N	\N	{"Latino": 0.000259413, "European": 0.0018290388, "East Asian": 0.0, "Central/South Asian": 0.000494936}	f
779469	317	TPMT	*37	\N	Uncertain function	\N	\N	779468	{24710034}	\N	\N	\N	{"Latino": 0.00008934, "European": 0.00003731825, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685589	130	RYR1	c.6961A>G	Benign	Normal function	\N	n/a	3685588	{35849058}	\N	\N	PM1, BS1, BS2, BS3_Sup	{"Latino": 0.00006545, "American": null, "European": 0.00091547164, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0002895}	f
3685309	130	RYR1	c.38T>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685308	{35849058}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685311	130	RYR1	c.51_53del	Variant of uncertain significance	Uncertain function	\N	n/a	3685310	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685313	130	RYR1	c.97A>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685312	{35849058}	\N	\N	PS2_PM6_Sup, PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779151	318	RYR1	c.103T>C	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779150	{33767344}	\N	\N	PS4_Mod, PM1, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685317	130	RYR1	c.119G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685316	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685327	130	RYR1	c.178G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685326	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779149	202	RYR1	Reference	Benign	Normal function	\N	n/a	779148	{}	\N	\N	\N	\N	f
3685629	130	RYR1	c.7099G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685628	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": 0.00006543, "American": null, "European": 0.00004411, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685631	130	RYR1	c.7112A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685630	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685633	130	RYR1	c.7123G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685632	{33767344}	\N	\N	PS4_Sup, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779205	318	RYR1	c.7124G>C	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779204	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685637	130	RYR1	c.7199A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685636	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004831}	f
3685639	130	RYR1	c.7210G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685638	{35849058}	\N	\N	PM1, PP1	{"Latino": 0.00006544, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0000483}	f
779207	318	RYR1	c.7282G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779206	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685643	130	RYR1	c.7291G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685642	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004827}	f
3685645	130	RYR1	c.7291G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685644	{35849058}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5_Sup, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685647	130	RYR1	c.7292A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685646	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779209	318	RYR1	c.7300G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779208	{33767344}	\N	\N	PS3, PS4, PM1, PP1_St, PP3_Mod, BS2	{"Latino": null, "American": null, "European": 0.00008819, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004825}	f
779211	318	RYR1	c.7304G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779210	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685653	130	RYR1	c.7304G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685652	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685655	130	RYR1	c.7307G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685654	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685665	130	RYR1	c.7355G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685664	{35849058}	\N	\N	PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779215	318	RYR1	c.7360C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779214	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5, PP1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685763	130	RYR1	c.9848G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685762	{35849058}	\N	\N	None	{"Latino": 0.00006545, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685767	130	RYR1	c.9868G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685766	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002415}	f
3685859	130	RYR1	c.12689T>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685858	{35849058}	\N	\N	PS4_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685867	130	RYR1	c.12881C>T	Benign	Normal function	\N	n/a	3685866	{33767344}	\N	\N	BA1	{"Latino": 0.0009516, "American": null, "European": 0.0002127, "East Asian": null, "Near Eastern": 0.006452, "Central/South Asian": null, "Sub-Saharan African": 0.01471}	f
3685945	130	RYR1	c.14567C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685944	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685949	130	RYR1	c.14581C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685948	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779243	318	RYR1	c.14582G>A	Variant of uncertain significance	Uncertain function	\N	n/a	779242	{33767344}	\N	\N	PS3_Mod, PS4_Sup, PM1_Sup, PP3_Mod, BS2	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685951	130	RYR1	c.14627A>G	Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685950	{35849058}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685953	130	RYR1	c.14639T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685952	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685955	130	RYR1	c.14678G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685954	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685957	130	RYR1	c.14680G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685956	{35849058}	\N	\N	PS3_Mod, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779332	317	SLCO1B1	*28	\N	Uncertain function	\N	\N	779331	{22147369}	Inadequate	\N	SLCO1B1*28 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779280	318	SLCO1B1	*2	\N	Uncertain function	\N	\N	779279	{11477075,12490595}	Inadequate	\N	SLCO1B1*2 is assigned uncertain function based on in vitro studies demonstrating reduced uptake of estrone sulfate, estradiol 17beta-d-glucuronide and rifampin (11477075, 12490595), but no clinical data. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779306	317	SLCO1B1	*15	Decreased function	No function	\N	\N	779305	{15970799,21245207,25350695,31220337}	Definitive	\N	SLCO1B1*15 is assigned no function based on strong evidence in heterozygous and homozygous patients, and in vitro studies. SLCO1B1*15 has been studied for more than 15 years and its association with impaired function compared to wildtype is well-established (21245207, 25350695, 31220337). Though in vitro, the *15 allele may have more function than the *5 allele, analyses of pharmacokinetics and statin-associated muscle symptoms are usually performed on the rs4149056 variant included in the *5 and *15 alleles, so the same functional status was assigned for each of these alleles.	{"American": 0.24, "European": 0.15017298, "Oceanian": 0.0, "East Asian": 0.12453574, "Near Eastern": 0.15, "Central/South Asian": 0.065170676, "Sub-Saharan African": 0.027934482, "African American/Afro-Caribbean": 0.01}	f
779340	317	SLCO1B1	*32	\N	Uncertain function	\N	\N	779339	{22147369}	Inadequate	\N	SLCO1B1*32 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed no statistical difference in methotrexate clearance for one heterozygous patient (22147369). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779395	317	TPMT	*2	\N	No function	\N	\N	779394	{786267,16220112,9177237,18708949,8644731}	\N	\N	\N	{"Latino": 0.0034579393, "European": 0.0020584913, "East Asian": 0.00008490133, "Near Eastern": 0.007194246, "Central/South Asian": 0.00022537795, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0053066667}	f
779397	317	TPMT	*3A	\N	No function	\N	\N	779396	{16220112,9177237,18708949,8644731,8561894}	\N	\N	\N	{"Latino": 0.041727107, "European": 0.033840433, "East Asian": 0.00030599828, "Near Eastern": 0.0130693065, "Central/South Asian": 0.0042245653, "Sub-Saharan African": 0.0016235898, "African American/Afro-Caribbean": 0.008}	f
779399	317	TPMT	*3B	\N	No function	\N	\N	779398	{16220112,18708949,8644731,8561894}	\N	\N	\N	{"Latino": 0.002382896, "European": 0.0028341785, "East Asian": 0.0, "Near Eastern": 0.004721087, "Central/South Asian": 0.0017308706, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779401	317	TPMT	*3C	\N	No function	\N	\N	779400	{16220112,18708949,8644731,8561894}	\N	\N	\N	{"Latino": 0.005828808, "European": 0.0049218307, "East Asian": 0.01636903, "Near Eastern": 0.009404483, "Central/South Asian": 0.011216759, "Sub-Saharan African": 0.052884888, "African American/Afro-Caribbean": 0.024}	f
779403	317	TPMT	*4	\N	No function	\N	\N	779402	{9246020}	\N	\N	\N	{"Latino": 0.0, "European": 0.000058889815, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779405	317	TPMT	*5	\N	Uncertain function	\N	\N	779404	{18708949,16220112,9246020}	\N	\N	\N	{"Latino": null, "European": 0.0, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779407	317	TPMT	*6	\N	Uncertain function	\N	\N	779406	{18708949,16220112,9246020}	\N	\N	\N	{"Latino": 0.00002916, "European": 0.0, "East Asian": 0.0022042317, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779409	317	TPMT	*7	\N	Uncertain function	\N	\N	779408	{18708949,16220112,9246020,13679074}	\N	\N	\N	{"Latino": 0.0, "European": 0.000015974565, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779411	317	TPMT	*8	\N	Uncertain function	\N	\N	779410	{18708949,16220112,27564568,9931346}	\N	\N	\N	{"Latino": 0.001191, "European": 0.000104547704, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.00009375629, "Sub-Saharan African": 0.024, "African American/Afro-Caribbean": 0.00648}	f
779413	317	TPMT	*9	\N	Uncertain function	\N	\N	779412	{18708949,18602085,15226673,16220112}	\N	\N	\N	{"Latino": 0.0001163, "European": 0.0005553769, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
779415	317	TPMT	*10	\N	Uncertain function	\N	\N	779414	{18708949,13679074,10833476,16220112}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779481	113	TPMT	*43	\N	\N	\N	\N	779480	\N	\N	\N	\N	\N	f
779483	113	TPMT	*44	\N	\N	\N	\N	779482	\N	\N	\N	\N	\N	f
779471	317	TPMT	*38	\N	Unknown function	\N	\N	779470	{25564374}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0004059, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779473	317	TPMT	*39	\N	Uncertain function	\N	\N	779472	{27703193}	\N	\N	\N	{"Latino": 0.0, "European": 0.000006562125, "East Asian": 0.000106, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779475	317	TPMT	*40	\N	Uncertain function	\N	\N	779474	{27564568}	\N	\N	\N	{"Latino": 0.0002034, "European": 0.00005903421, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779477	317	TPMT	*41	\N	No function	\N	\N	779476	{28462921}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779491	318	UGT1A1	*6	\N	Decreased function	\N	\N	779490	{7715297,8280139,15179405,11906189}	\N	\N	15179405: SNS-38 (in vivo) - based on protein quantification; 11906189: bilirubin (in vivo) - based on protein quantification	{"Latino": 0.011556196, "European": 0.007872763, "Oceanian": null, "East Asian": 0.1463455, "Near Eastern": 0.0, "Central/South Asian": 0.044862628, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.003986928}	f
779493	318	UGT1A1	*27	\N	Decreased function	\N	\N	779492	{7565971,7715297,15179405}	\N	\N	7715297: bilirubin (in vivo) - based on protein quantification; 15179405: SNS-38 (in vivo) - based on protein quantification	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779495	318	UGT1A1	*28	\N	Decreased function	\N	\N	779494	{9653159,15179405}	\N	\N	15179405: SNS-38 (in vivo) - based on protein quantification	{"Latino": 0.4, "European": 0.31647462, "Oceanian": 0.043209877, "East Asian": 0.14802907, "Near Eastern": 0.30762586, "Central/South Asian": 0.41421428, "Sub-Saharan African": 0.40004247, "African American/Afro-Caribbean": 0.37335765}	f
779497	317	UGT1A1	*36	\N	Increased function	\N	\N	779496	{9653159}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.007933025, "Central/South Asian": 0.0, "Sub-Saharan African": 0.069839545, "African American/Afro-Caribbean": 0.084452555}	f
779499	317	UGT1A1	*37	\N	Decreased function	\N	\N	779498	{9653159}	\N	\N	\N	{"Latino": 0.0, "European": 0.00068587105, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.004330254, "Central/South Asian": 0.0, "Sub-Saharan African": 0.037069373, "African American/Afro-Caribbean": 0.057007298}	f
779501	317	UGT1A1	*80	\N	Unknown function	\N	\N	779500	{}	\N	UGT1A1*80 is in very high linkage disequilibrium with *28 and *37. However, the function of the *80 allele alone, in the absence of *28 or *37, is uncertain. If a patient is only tested for *80, decreased function may be inferred.	\N	{"Latino": 0.3827317, "European": 0.31424528, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.4503211}	f
779503	317	UGT1A1	*80+*28	\N	Decreased function	\N	\N	779502	{21309756,19414484,22085899,19419973}	\N	UGT1A1*80 is in very high linkage disequilibrium with *28 and *37. However, the function of the *80 allele alone, in the absence of *28 or *37, is uncertain. If a patient is only tested for *80, decreased function may be inferred.	\N	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779489	319	UGT1A1	*1	\N	Normal function	\N	\N	779488	{7565971,9653159,15179405}	\N	\N	15179405: SNS-38 (in vivo) - based on protein quantification	{"Latino": 0.20571208, "European": 0.36072147, "Oceanian": 0.95679015, "East Asian": 0.7056254, "Near Eastern": 0.6801109, "Central/South Asian": 0.5409231, "Sub-Saharan African": 0.4930486, "African American/Afro-Caribbean": 0.03087449}	t
\.


--
-- Data for Name: allele_definition; Type: TABLE DATA; Schema: cpic; Owner: -
--

COPY cpic.allele_definition (id, version, genesymbol, name, pharmvarid, matchesreferencesequence, structuralvariation) FROM stdin;
9000	1	HLA-A	*31:01	\N	f	f
9001	1	HLA-B	*15:02	\N	f	f
9002	1	HLA-B	*57:01	\N	f	f
9003	1	HLA-B	*58:01	\N	f	f
777452	163	CYP2B6	*17	PV00755	f	f
777460	163	CYP2B6	*21	PV00759	f	f
6355213	2	CFTR	A120T	\N	f	f
777678	163	CYP2C9	*6	PV00542	f	f
777680	163	CYP2C9	*7	PV00543	f	f
1406321	133	CYP2C9	*75	PV01742	f	f
777462	163	CYP2B6	*22	PV00760	f	f
777464	163	CYP2B6	*23	PV00761	f	f
777466	163	CYP2B6	*24	PV00762	f	f
777468	163	CYP2B6	*25	PV00763	f	f
777470	163	CYP2B6	*26	PV00764	f	f
777474	163	CYP2B6	*28	PV00766	f	f
777476	158	CYP2B6	*29	PV00767	f	t
777478	158	CYP2B6	*30	PV00770	f	t
777480	163	CYP2B6	*31	PV00771	f	f
777482	163	CYP2B6	*32	PV00772	f	f
777484	163	CYP2B6	*33	PV00848	f	f
777486	163	CYP2B6	*34	PV00774	f	f
777490	163	CYP2B6	*36	PV00776	f	f
777492	163	CYP2B6	*37	PV00777	f	f
777494	163	CYP2B6	*38	PV00778	f	f
2899154	77	CYP2B6	*45	PV02278	f	f
2899156	77	CYP2B6	*46	PV02280	f	f
2899158	77	CYP2B6	*47	PV02282	f	f
2899162	77	CYP2B6	*49	PV02286	f	f
5997308	10	CYP2B6	*50	PV02841	f	f
777432	163	CYP2B6	*6	PV00744	f	f
777580	163	CYP2C19	*28	PV00622	f	f
777434	163	CYP2B6	*7	PV00745	f	f
777436	163	CYP2B6	*8	PV00746	f	f
777438	163	CYP2B6	*9	PV00747	f	f
777578	163	CYP2C19	*26	PV00621	f	f
777592	163	CYP2C19	*34	PV02143	f	f
6235065	6	CYP2C19	*41	PV02896	f	f
1933003	113	CYP2C9	*85	PV01798	f	f
777704	163	CYP2C9	*19	PV00555	f	f
777958	163	CYP2D6	*12	PV00437	f	f
778178	163	CYP2D6	*130	PV00685	f	f
778180	163	CYP2D6	*131	PV00686	f	f
777690	163	CYP2C9	*12	PV00548	f	f
778182	163	CYP2D6	*132	PV00687	f	f
777732	163	CYP2C9	*33	PV00569	f	f
777442	163	CYP2B6	*11	PV00749	f	f
778184	163	CYP2D6	*133	PV00688	f	f
777716	163	CYP2C9	*25	PV00561	f	f
778188	163	CYP2D6	*135	PV00690	f	f
778190	163	CYP2D6	*136	PV00691	f	f
778192	163	CYP2D6	*137	PV00692	f	f
778196	163	CYP2D6	*139	PV00728	f	f
6355241	2	CFTR	E822K	\N	f	f
778200	163	CYP2D6	*141	PV02389	f	f
778202	163	CYP2D6	*142	PV01434	f	f
778206	163	CYP2D6	*144	PV01436	f	f
778208	163	CYP2D6	*145	PV01437	f	f
1103377	145	CYP2D6	*146	PV01717	f	f
1103379	145	CYP2D6	*147	PV01805	f	f
1609527	126	CYP2D6	*148	PV01745	f	f
1103381	145	CYP2D6	*149	PV01730	f	f
2677013	85	CYP2D6	*151	PV02194	f	f
2091236	107	CYP2D6	*152	PV02155	f	f
2091238	107	CYP2D6	*153	PV02157	f	f
2091242	107	CYP2D6	*155	PV01936	f	f
777454	163	CYP2B6	*18	PV00756	f	f
777746	163	CYP2C9	*40	PV00576	f	f
777794	163	CYP2C9	*64	PV01419	f	f
2091244	107	CYP2D6	*156	PV01943	f	f
2091246	107	CYP2D6	*157	PV01947	f	f
777440	163	CYP2B6	*10	PV00748	f	f
6355215	2	CFTR	A234D	\N	f	f
6355217	2	CFTR	A349V	\N	f	f
6355227	2	CFTR	D192G	\N	f	f
6355231	2	CFTR	D924N	\N	f	f
777333	92	CFTR	E56K	\N	f	f
6355325	2	CFTR	Q237E	\N	f	f
777456	163	CYP2B6	*19	PV00757	f	f
777766	163	CYP2C9	*50	PV00586	f	f
777776	163	CYP2C9	*55	PV00591	f	f
6355245	2	CFTR	F311del	\N	f	f
6355247	2	CFTR	F311L	\N	f	f
6355249	2	CFTR	F508C	\N	f	f
6355251	2	CFTR	F508C;S1251N	\N	f	f
6355257	2	CFTR	G178E	\N	f	f
6355261	2	CFTR	G194R(G>A)	\N	f	f
6355263	2	CFTR	G194R(G>C)	\N	f	f
6355265	2	CFTR	G314E	\N	f	f
6355271	2	CFTR	G576A	\N	f	f
6355273	2	CFTR	G970D	\N	f	f
6355279	2	CFTR	G1249R(G>A)	\N	f	f
6355281	2	CFTR	G1249R(G>C)	\N	f	f
6355285	2	CFTR	H939R	\N	f	f
6355287	2	CFTR	H1375P	\N	f	f
6355289	2	CFTR	I148T	\N	f	f
6355293	2	CFTR	I807M	\N	f	f
6355295	2	CFTR	I1027T	\N	f	f
6355297	2	CFTR	I1139V	\N	f	f
6355303	2	CFTR	L320V	\N	f	f
6355305	2	CFTR	L967S	\N	f	f
6355307	2	CFTR	L997F(G>C)	\N	f	f
6355309	2	CFTR	L997F(G>T)	\N	f	f
6355311	2	CFTR	L1480P	\N	f	f
6355313	2	CFTR	M152V	\N	f	f
6355315	2	CFTR	M952I(G>A)	\N	f	f
6355319	2	CFTR	M952I(G>T)	\N	f	f
6355321	2	CFTR	M952T	\N	f	f
777357	92	CFTR	P67L	\N	f	f
6355327	2	CFTR	Q237H	\N	f	f
6355329	2	CFTR	Q359R	\N	f	f
6355331	2	CFTR	Q1291R	\N	f	f
6355335	2	CFTR	R75Q	\N	f	f
6355339	2	CFTR	R117G	\N	f	f
6355343	2	CFTR	R117L	\N	f	f
6355345	2	CFTR	R117P	\N	f	f
6355347	2	CFTR	R170H	\N	f	f
6355351	2	CFTR	R347L	\N	f	f
6355355	2	CFTR	R553Q	\N	f	f
6355357	2	CFTR	R668C	\N	f	f
6355359	2	CFTR	R792G	\N	f	f
6355361	2	CFTR	R933G	\N	f	f
777444	163	CYP2B6	*12	PV00750	f	f
777448	163	CYP2B6	*14	PV00752	f	f
777450	163	CYP2B6	*15	PV00753	f	f
778050	163	CYP2D6	*59	PV00483	f	f
779303	156	SLCO1B1	*14	PV01631	f	f
5175550	24	CYP2D6	*173	PV02498	f	f
779305	156	SLCO1B1	*15	PV01632	f	f
6235324	6	CYP2C9	*88	PV02933	f	f
2677049	85	CYP2D6	*169	PV02163	f	f
2677053	85	CYP2D6	*171	PV02189	f	f
3318539	62	CYP2D6	*172	PV02301	f	f
5175552	24	CYP2D6	*174	PV02500	f	f
5175554	24	CYP2D6	*175	PV02502	f	f
5409119	20	CYP2D6	*176	PV02519	f	f
779327	156	SLCO1B1	*26	PV01639	f	f
5763832	14	CYP2D6	*177	PV02522	f	f
5998158	10	CYP2D6	*178	PV02809	f	f
777948	163	CYP2D6	*7	PV00432	f	f
778108	163	CYP2D6	*95	PV00512	f	f
778096	163	CYP2D6	*89	PV00506	f	f
4058604	39	CYP4F2	*17	PV02391	f	f
778028	163	CYP2D6	*48	PV00472	f	f
778030	163	CYP2D6	*49	PV00473	f	f
778032	163	CYP2D6	*50	PV00474	f	f
778034	163	CYP2D6	*51	PV00475	f	f
778036	163	CYP2D6	*52	PV00476	f	f
778038	163	CYP2D6	*53	PV00477	f	f
778040	163	CYP2D6	*54	PV00478	f	f
778042	163	CYP2D6	*55	PV00479	f	f
778060	163	CYP2D6	*64	PV00488	f	f
778044	163	CYP2D6	*56	PV00480	f	f
778048	163	CYP2D6	*58	PV00482	f	f
778064	158	CYP2D6	*68	PV00490	f	t
777946	163	CYP2D6	*6	PV00431	f	f
778054	158	CYP2D6	*61	PV00485	f	t
778068	163	CYP2D6	*70	PV00492	f	f
778058	158	CYP2D6	*63	PV00487	f	t
778072	163	CYP2D6	*72	PV00494	f	f
778062	163	CYP2D6	*65	PV00489	f	f
778076	163	CYP2D6	*74	PV00496	f	f
778066	163	CYP2D6	*69	PV00491	f	f
777950	163	CYP2D6	*8	PV00433	f	f
778070	163	CYP2D6	*71	PV00493	f	f
778080	163	CYP2D6	*81	PV00498	f	f
778074	163	CYP2D6	*73	PV00495	f	f
778084	163	CYP2D6	*83	PV02385	f	f
778078	163	CYP2D6	*75	PV00497	f	f
778088	163	CYP2D6	*85	PV00502	f	f
778082	163	CYP2D6	*82	PV00499	f	f
778092	163	CYP2D6	*87	PV00504	f	f
778086	163	CYP2D6	*84	PV00501	f	f
778114	163	CYP2D6	*98	PV00515	f	f
778090	163	CYP2D6	*86	PV00503	f	f
2091250	107	CYP2D6	*159	PV01954	f	f
778094	163	CYP2D6	*88	PV00505	f	f
3318599	62	CYP4F2	*15	PV02328	f	f
777952	163	CYP2D6	*9	PV00434	f	f
778112	163	CYP2D6	*97	PV00514	f	f
777978	163	CYP2D6	*23	PV00447	f	f
3318593	62	CYP4F2	*12	PV02322	f	f
778014	163	CYP2D6	*41	PV00465	f	f
3318601	62	CYP4F2	*16	PV02312	f	t
778018	163	CYP2D6	*43	PV00467	f	f
2677043	85	CYP2D6	*166	PV02203	f	f
778024	163	CYP2D6	*46	PV00470	f	f
5998160	10	CYP2D6	*179	PV02811	f	f
779297	156	SLCO1B1	*11	PV01628	f	f
5998162	10	CYP2D6	*180	PV02813	f	f
1002687	147	SLCO1B1	*38	PV01650	f	f
2784578	81	CYP4F2	*7	PV02227	f	f
5998164	10	CYP2D6	*181	PV02815	f	f
5998166	10	CYP2D6	*182	PV02817	f	f
5998168	10	CYP2D6	*183	PV02819	f	f
5998170	10	CYP2D6	*184	PV02821	f	f
5998172	10	CYP2D6	*185	PV02823	f	f
777970	163	CYP2D6	*19	PV02196	f	f
777988	163	CYP2D6	*28	PV00452	f	f
2784572	81	CYP4F2	*4	PV02221	f	f
778016	163	CYP2D6	*42	PV02297	f	f
3318585	62	CYP4F2	*8	PV02314	f	f
778020	163	CYP2D6	*44	PV00468	f	f
778022	163	CYP2D6	*45	PV00469	f	f
778026	163	CYP2D6	*47	PV00471	f	f
778052	163	CYP2D6	*60	PV00484	f	f
3318587	62	CYP4F2	*9	PV02316	f	f
778240	162	CYP4F2	*2	PV02213	f	f
2784576	81	CYP4F2	*6	PV02225	f	f
779335	156	SLCO1B1	*30	PV01643	f	f
779080	162	NUDT15	*9	PV01605	f	f
1002697	147	SLCO1B1	*43	PV01655	f	f
3318595	62	CYP4F2	*13	PV02324	f	f
779307	156	SLCO1B1	*16	PV01633	f	f
779315	156	SLCO1B1	*20	PV01635	f	f
779321	156	SLCO1B1	*23	PV01636	f	f
1002703	147	SLCO1B1	*46	PV01658	f	f
779323	156	SLCO1B1	*24	PV01637	f	f
779331	156	SLCO1B1	*28	PV01641	f	f
779337	156	SLCO1B1	*31	PV01644	f	f
779281	156	SLCO1B1	*3	PV01620	f	f
779339	156	SLCO1B1	*32	PV01645	f	f
779343	156	SLCO1B1	*34	PV01647	f	f
779299	156	SLCO1B1	*12	PV01629	f	f
1002689	147	SLCO1B1	*39	PV01651	f	f
779283	156	SLCO1B1	*4	PV01621	f	f
779301	156	SLCO1B1	*13	PV01630	f	f
778056	163	CYP2D6	*62	PV00486	f	f
1357091	135	SLCO1B1	*48	PV01732	f	t
1002695	147	SLCO1B1	*42	PV01654	f	f
2091252	107	CYP2D6	*160	PV01958	f	f
6235063	6	CYP2C19	*40	PV02894	f	f
777758	163	CYP2C9	*46	PV00582	f	f
777682	163	CYP2C9	*8	PV00544	f	f
6235320	6	CYP2C9	*86	PV02929	f	f
6355367	2	CFTR	R1162L	\N	f	f
6235322	6	CYP2C9	*87	PV02931	f	f
778186	163	CYP2D6	*134	PV00689	f	f
778204	163	CYP2D6	*143	PV01435	f	f
2091256	107	CYP2D6	*162	PV01967	f	f
779325	156	SLCO1B1	*25	PV01638	f	f
2677045	85	CYP2D6	*167	PV02159	f	f
2677011	85	CYP2D6	*150	PV02524	f	f
2677047	85	CYP2D6	*168	PV02161	f	f
2091254	107	CYP2D6	*161	PV01963	f	f
2091258	107	CYP2D6	*163	PV01969	f	f
2677039	85	CYP2D6	*164	PV02199	f	f
2677051	85	CYP2D6	*170	PV02165	f	f
779347	156	SLCO1B1	*36	PV01648	f	f
1002693	147	SLCO1B1	*41	PV01653	f	f
777532	163	CYP2C19	*1	PV00598	f	f
3685924	31	RYR1	c.14471T>C	\N	f	f
779234	92	RYR1	c.14477C>T	\N	f	f
3685972	31	RYR1	c.14825G>T	\N	f	f
3685974	31	RYR1	c.14879T>A	\N	f	f
779333	156	SLCO1B1	*29	PV01642	f	f
779289	156	SLCO1B1	*7	PV01624	f	f
777570	163	CYP2C19	*22	PV00617	f	f
777572	163	CYP2C19	*23	PV00618	f	f
777574	163	CYP2C19	*24	PV00619	f	f
777576	163	CYP2C19	*25	PV00620	f	f
777598	158	CYP2C19	*37	PV00732	f	t
777600	163	CYP2C19	*39	PV01528	f	f
777538	163	CYP2C19	*4	PV00601	f	f
778242	162	CYP4F2	*3	PV02214	f	f
778485	92	DPYD	c.2983G>T (*10)	\N	f	f
778954	92	G6PD	Puerto Limon	\N	f	f
778990	92	G6PD	Santiago de Cuba, Morioka	\N	f	f
779043	92	IFNL3	rs12979860 variant (T)	\N	f	f
1002623	147	SLCO1B1	*1	PV01618	t	f
3685874	31	RYR1	c.13673G>A	\N	f	f
3685876	31	RYR1	c.13672C>T	\N	f	f
3685878	31	RYR1	c.13702C>G	\N	f	f
3685886	31	RYR1	c.13934G>A	\N	f	f
3685888	31	RYR1	c.13990T>C	\N	f	f
3685898	31	RYR1	c.14168G>A	\N	f	f
3685900	31	RYR1	c.14186A>C	\N	f	f
3685902	31	RYR1	c.14197T>G	\N	f	f
1002685	147	SLCO1B1	*37	PV01649	f	f
3685904	31	RYR1	c.14201G>A	\N	f	f
779279	156	SLCO1B1	*2	PV01619	f	f
1002701	147	SLCO1B1	*45	PV01657	f	f
777558	163	CYP2C19	*14	PV00611	f	f
777560	163	CYP2C19	*15	PV00612	f	f
777562	163	CYP2C19	*16	PV02139	f	f
3685880	31	RYR1	c.13760C>T	\N	f	f
777540	163	CYP2C19	*5	PV02131	f	f
777544	163	CYP2C19	*7	PV02134	f	f
777548	163	CYP2C19	*9	PV00606	f	f
778337	92	DPYD	c.295_298delTCAT (*7)	\N	f	f
778435	92	DPYD	c.1905C>G	\N	f	f
778453	92	DPYD	c.2279C>T	\N	f	f
778780	94	G6PD	Taipei, Chinese-3	\N	f	f
3685906	31	RYR1	c.14209C>T	\N	f	f
3685908	31	RYR1	c.14210G>A	\N	f	f
777564	163	CYP2C19	*17	PV00614	f	f
3685910	31	RYR1	c.14270G>A	\N	f	f
779232	92	RYR1	c.14387A>G	\N	f	f
3685916	31	RYR1	c.14424C>A	\N	f	f
3685918	31	RYR1	c.14449A>T	\N	f	f
3685920	31	RYR1	c.14458G>A	\N	f	f
779236	92	RYR1	c.14497C>T	\N	f	f
3685930	31	RYR1	c.14510delA	\N	f	f
3685932	31	RYR1	c.14509C>G	\N	f	f
779238	92	RYR1	c.14512C>G	\N	f	f
3685936	31	RYR1	c.14524G>A	\N	f	f
3685938	31	RYR1	c.14539G>C	\N	f	f
779240	92	RYR1	c.14545G>A	\N	f	f
3685942	31	RYR1	c.14558C>T	\N	f	f
3685944	31	RYR1	c.14567C>G	\N	f	f
779242	92	RYR1	c.14582G>A	\N	f	f
1357093	135	SLCO1B1	*49	PV01734	f	t
3685948	31	RYR1	c.14581C>T	\N	f	f
3685950	31	RYR1	c.14627A>G	\N	f	f
3685952	31	RYR1	c.14639T>C	\N	f	f
3685954	31	RYR1	c.14678G>A	\N	f	f
3685960	31	RYR1	c.14782A>G	\N	f	f
3685962	31	RYR1	c.14803G>A	\N	f	f
3685964	31	RYR1	c.14813T>C	\N	f	f
3685966	31	RYR1	c.14814C>G	\N	f	f
3685968	31	RYR1	c.14817C>A	\N	f	f
3685970	31	RYR1	c.14818G>A	\N	f	f
3685976	31	RYR1	c.14918C>T	\N	f	f
3685978	31	RYR1	c.14968A>G	\N	f	f
3685980	31	RYR1	c.15059G>C	\N	f	f
779285	156	SLCO1B1	*5	PV01622	f	f
779291	156	SLCO1B1	*8	PV01625	f	f
779293	156	SLCO1B1	*9	PV01626	f	f
779287	156	SLCO1B1	*6	PV01623	f	f
6355369	2	CFTR	R1283M	\N	f	f
777550	163	CYP2C19	*10	PV00607	f	f
777552	163	CYP2C19	*11	PV00608	f	f
6355377	2	CFTR	S589N	\N	f	f
6355379	2	CFTR	S737F	\N	f	f
6355385	2	CFTR	S1159F	\N	f	f
6355387	2	CFTR	S1159P	\N	f	f
777944	158	CYP2D6	*5	PV00430	f	t
6355393	2	CFTR	T338I	\N	f	f
6355395	2	CFTR	T1053I	\N	f	f
3685956	31	RYR1	c.14680G>A	\N	f	f
779244	92	RYR1	c.14693T>C	\N	f	f
777536	163	CYP2C19	*3	PV00600	f	f
6355397	2	CFTR	V232D	\N	f	f
3685882	31	RYR1	c.13913G>A	\N	f	f
3685890	31	RYR1	c.13994_13995delTCinsCT	\N	f	f
3685892	31	RYR1	c.14002C>T	\N	f	f
3685894	31	RYR1	c.14051T>C	\N	f	f
3685896	31	RYR1	c.14126C>T	\N	f	f
6355399	2	CFTR	V562I	\N	f	f
3685922	31	RYR1	c.14458G>T	\N	f	f
777594	163	CYP2C19	*35	PV00629	f	f
6355401	2	CFTR	V754M	\N	f	f
6355403	2	CFTR	V1293G	\N	f	f
6355405	2	CFTR	W1282R	\N	f	f
6355407	2	CFTR	Y1014C	\N	f	f
6355409	2	CFTR	Y1032C	\N	f	f
777542	163	CYP2C19	*6	PV00603	f	f
778116	163	CYP2D6	*99	PV00516	f	f
777566	163	CYP2C19	*18	PV00615	f	f
778872	92	G6PD	West Virginia	\N	f	f
779041	92	IFNL3	rs12979860 reference (C)	\N	t	f
777554	163	CYP2C19	*12	PV00609	f	f
777556	163	CYP2C19	*13	PV00610	f	f
777568	163	CYP2C19	*19	PV00616	f	f
777534	163	CYP2C19	*2	PV00599	f	f
777730	163	CYP2C9	*32	PV00568	f	f
777734	163	CYP2C9	*34	PV00570	f	f
777738	163	CYP2C9	*36	PV00572	f	f
777740	163	CYP2C9	*37	PV00573	f	f
777742	163	CYP2C9	*38	PV00574	f	f
777744	163	CYP2C9	*39	PV00575	f	f
777748	163	CYP2C9	*41	PV00577	f	f
1406315	133	CYP2C9	*72	PV01736	f	f
1406317	133	CYP2C9	*73	PV01738	f	f
1406319	133	CYP2C9	*74	PV01803	f	f
1932985	113	CYP2C9	*76	PV01780	f	f
1932987	113	CYP2C9	*77	PV01782	f	f
777750	163	CYP2C9	*42	PV00578	f	f
779002	92	G6PD	Andalus	\N	f	f
778826	92	G6PD	Asahikawa	\N	f	f
778938	92	G6PD	Beverly Hills, Genova, Iwate, Niigata, Yamaguchi	\N	f	f
779038	92	G6PD	Brighton	\N	f	f
778774	92	G6PD	Gond	\N	f	f
777752	163	CYP2C9	*43	PV00579	f	f
777756	163	CYP2C9	*45	PV00581	f	f
777760	163	CYP2C9	*47	PV00583	f	f
1932989	113	CYP2C9	*78	PV01784	f	f
777762	163	CYP2C9	*48	PV00584	f	f
777764	163	CYP2C9	*49	PV00585	f	f
777676	163	CYP2C9	*5	PV00541	f	f
777768	163	CYP2C9	*51	PV00587	f	f
777770	163	CYP2C9	*52	PV00588	f	f
1932991	113	CYP2C9	*79	PV01786	f	f
1932993	113	CYP2C9	*80	PV01788	f	f
1932997	113	CYP2C9	*82	PV01792	f	f
777772	163	CYP2C9	*53	PV00589	f	f
777774	163	CYP2C9	*54	PV00590	f	f
1932999	113	CYP2C9	*83	PV01794	f	f
778906	92	G6PD	Ierapetra	\N	f	f
778724	92	G6PD	Lagosanto	\N	f	f
777778	163	CYP2C9	*56	PV00592	f	f
1933001	113	CYP2C9	*84	PV01796	f	f
777780	163	CYP2C9	*57	PV00593	f	f
777684	163	CYP2C9	*9	PV00545	f	f
777994	163	CYP2D6	*31	PV00455	f	f
6235905	6	CYP4F2	*18	PV02945	f	f
6235907	6	CYP4F2	*19	PV02947	f	f
6235909	6	CYP4F2	*20	PV02949	f	f
6235911	6	CYP4F2	*21	PV02951	f	f
778800	93	G6PD	Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham	\N	f	f
6235913	6	CYP4F2	*22	PV02953	f	f
6235915	6	CYP4F2	*23	PV02955	f	f
778802	92	G6PD	Pedoplis-Ckaro	\N	f	f
778744	92	G6PD	Santa Maria	\N	f	f
3685694	31	RYR1	c.7771C>T	\N	f	f
3685726	31	RYR1	c.8518C>T	\N	f	f
3685758	31	RYR1	c.9758T>C	\N	f	f
3685790	31	RYR1	c.10891G>T	\N	f	f
3685822	31	RYR1	c.11953T>C	\N	f	f
3685856	31	RYR1	c.12553G>A	\N	f	f
777428	163	CYP2B6	*4	PV00742	f	f
777686	163	CYP2C9	*10	PV00546	f	f
777692	163	CYP2C9	*13	PV00549	f	f
777694	163	CYP2C9	*14	PV00550	f	f
777782	163	CYP2C9	*58	PV00594	f	f
777698	163	CYP2C9	*16	PV00552	f	f
777700	163	CYP2C9	*17	PV00553	f	f
777784	163	CYP2C9	*59	PV00595	f	f
777786	163	CYP2C9	*60	PV00596	f	f
777788	163	CYP2C9	*61	PV00597	f	f
777790	163	CYP2C9	*62	PV00851	f	f
777792	163	CYP2C9	*63	PV01418	f	f
777702	163	CYP2C9	*18	PV00554	f	f
777670	163	CYP2C9	*2	PV00538	f	f
777706	163	CYP2C9	*20	PV00556	f	f
777712	163	CYP2C9	*23	PV00559	f	f
777714	163	CYP2C9	*24	PV00560	f	f
777720	163	CYP2C9	*27	PV00563	f	f
777722	163	CYP2C9	*28	PV00564	f	f
777724	163	CYP2C9	*29	PV00565	f	f
777672	163	CYP2C9	*3	PV00539	f	f
777726	163	CYP2C9	*30	PV00566	f	f
777728	163	CYP2C9	*31	PV00567	f	f
777796	163	CYP2C9	*65	PV01420	f	f
6355291	2	CFTR	I175V	\N	f	f
6355317	2	CFTR	M952I(G>C)	\N	f	f
777798	163	CYP2C9	*66	PV01421	f	f
777800	163	CYP2C9	*67	PV01422	f	f
777802	163	CYP2C9	*68	PV01423	f	f
777804	163	CYP2C9	*69	PV01424	f	f
777806	163	CYP2C9	*70	PV01425	f	f
778483	92	DPYD	c.2977C>T	\N	f	f
778714	92	G6PD	202G>A_376A>G_1264C>G	\N	f	f
778752	92	G6PD	A	\N	f	f
778712	92	G6PD	A- 202A_376G	\N	f	f
778742	92	G6PD	Acrokorinthos	\N	f	f
777982	163	CYP2D6	*25	PV00449	f	f
777984	163	CYP2D6	*26	PV00450	f	f
777986	163	CYP2D6	*27	PV00451	f	f
777990	163	CYP2D6	*29	PV00453	f	f
777940	163	CYP2D6	*3	PV00428	f	f
777992	163	CYP2D6	*30	PV00454	f	f
777996	163	CYP2D6	*32	PV00456	f	f
777998	163	CYP2D6	*33	PV00457	f	f
778000	163	CYP2D6	*34	PV00458	f	f
778002	163	CYP2D6	*35	PV00459	f	f
778004	163	CYP2D6	*36	PV02379	f	f
778006	163	CYP2D6	*37	PV00461	f	f
778008	163	CYP2D6	*38	PV01592	f	f
778010	163	CYP2D6	*39	PV00463	f	f
777942	163	CYP2D6	*4	PV00429	f	f
778012	163	CYP2D6	*40	PV00464	f	f
6237969	6	SLCO1B1	*50	PV02969	f	f
6237971	6	SLCO1B1	*51	PV02971	f	f
6237973	6	SLCO1B1	*52	PV02973	f	f
777472	163	CYP2B6	*27	PV00765	f	f
2899142	77	CYP2B6	*39	PV02266	f	f
2899146	77	CYP2B6	*41	PV02270	f	f
2899148	77	CYP2B6	*42	PV02272	f	f
2899150	77	CYP2B6	*43	PV02274	f	f
2899152	77	CYP2B6	*44	PV02276	f	f
777430	163	CYP2B6	*5	PV00743	f	f
6237975	6	SLCO1B1	*53	PV02975	f	f
6237977	6	SLCO1B1	*54	PV02977	f	f
777530	163	CYP2C19	*38	PV02145	t	f
777936	163	CYP2D6	*1	PV00426	t	f
777954	163	CYP2D6	*10	PV00435	f	f
778118	163	CYP2D6	*100	PV00517	f	f
778120	163	CYP2D6	*101	PV00518	f	f
778122	163	CYP2D6	*102	PV00519	f	f
778124	163	CYP2D6	*103	PV00520	f	f
778126	163	CYP2D6	*104	PV00521	f	f
778128	163	CYP2D6	*105	PV00522	f	f
778130	163	CYP2D6	*106	PV00523	f	f
778132	163	CYP2D6	*107	PV00524	f	f
778136	163	CYP2D6	*109	PV00526	f	f
777956	163	CYP2D6	*11	PV00436	f	f
778138	163	CYP2D6	*110	PV00527	f	f
778140	163	CYP2D6	*111	PV00528	f	f
778142	163	CYP2D6	*112	PV00529	f	f
778144	163	CYP2D6	*113	PV00530	f	f
777962	163	CYP2D6	*14	PV00439	f	f
777964	163	CYP2D6	*15	PV00440	f	f
777966	163	CYP2D6	*17	PV00441	f	f
777968	163	CYP2D6	*18	PV01591	f	f
777938	163	CYP2D6	*2	PV00427	f	f
777972	163	CYP2D6	*20	PV01749	f	f
777974	163	CYP2D6	*21	PV02825	f	f
777976	163	CYP2D6	*22	PV00446	f	f
777980	163	CYP2D6	*24	PV00448	f	f
3827904	25	MT-RNR1	m.1095T>C	\N	f	f
3827906	25	MT-RNR1	m.1189T>C	\N	f	f
3827908	25	MT-RNR1	m.1243T>C	\N	f	f
3827910	25	MT-RNR1	m.1494C>T	\N	f	f
3827912	25	MT-RNR1	m.1520T>C	\N	f	f
3827914	25	MT-RNR1	m.1537C>T	\N	f	f
3827916	25	MT-RNR1	m.1555A>G	\N	f	f
3827918	25	MT-RNR1	m.1556C>T	\N	f	f
779396	92	TPMT	*3A	\N	f	f
779398	92	TPMT	*3B	\N	f	f
779400	92	TPMT	*3C	\N	f	f
779402	92	TPMT	*4	\N	f	f
779404	92	TPMT	*5	\N	f	f
779406	92	TPMT	*6	\N	f	f
779408	92	TPMT	*7	\N	f	f
779410	92	TPMT	*8	\N	f	f
779412	92	TPMT	*9	\N	f	f
779414	92	TPMT	*10	\N	f	f
779416	92	TPMT	*11	\N	f	f
779418	92	TPMT	*12	\N	f	f
779420	92	TPMT	*13	\N	f	f
779422	92	TPMT	*14	\N	f	f
779424	92	TPMT	*15	\N	f	f
779426	92	TPMT	*16	\N	f	f
779428	92	TPMT	*17	\N	f	f
779430	92	TPMT	*18	\N	f	f
779432	92	TPMT	*19	\N	f	f
779434	92	TPMT	*20	\N	f	f
778148	163	CYP2D6	*115	PV00532	f	f
778150	163	CYP2D6	*116	PV00533	f	f
779329	156	SLCO1B1	*27	PV01640	f	f
779341	156	SLCO1B1	*33	PV01646	f	f
1002691	147	SLCO1B1	*40	PV01652	f	f
1002705	147	SLCO1B1	*47	PV01659	f	f
779392	92	TPMT	*1	\N	t	f
777262	92	CACNA1S	Reference	\N	t	f
777266	92	CACNA1S	c.3257G>A	\N	f	f
777307	92	CFTR	ivacaftor non-responsive CFTR sequence	\N	t	f
777339	92	CFTR	F1074L	\N	f	f
779436	92	TPMT	*21	\N	f	f
779438	92	TPMT	*22	\N	f	f
779440	92	TPMT	*23	\N	f	f
779442	92	TPMT	*24	\N	f	f
779444	92	TPMT	*25	\N	f	f
777446	163	CYP2B6	*13	PV00751	f	f
778152	163	CYP2D6	*117	PV00534	f	f
778156	163	CYP2D6	*119	PV00536	f	f
778162	163	CYP2D6	*122	PV00632	f	f
778164	163	CYP2D6	*123	PV00633	f	f
778166	163	CYP2D6	*124	PV00634	f	f
777379	92	CFTR	S549R(A>C)	\N	f	f
778168	163	CYP2D6	*125	PV00681	f	f
777458	163	CYP2B6	*20	PV00758	f	f
777488	163	CYP2B6	*35	PV00775	f	f
777546	163	CYP2C19	*8	PV02136	f	f
777688	163	CYP2C9	*11	PV00547	f	f
778146	163	CYP2D6	*114	PV00531	f	f
777696	163	CYP2C9	*15	PV00551	f	f
777710	163	CYP2C9	*22	PV00558	f	f
778170	163	CYP2D6	*126	PV00682	f	f
777674	163	CYP2C9	*4	PV00540	f	f
778172	163	CYP2D6	*127	PV00635	f	f
3318597	62	CYP4F2	*14	PV02326	f	f
778176	163	CYP2D6	*129	PV00684	f	f
778098	163	CYP2D6	*90	PV00507	f	f
2784574	81	CYP4F2	*5	PV02223	f	f
6481190	2	NAT2	*1	PV02395	t	f
6481200	2	NAT2	*10	PV02400	f	f
6481204	2	NAT2	*15	PV02402	f	f
828095	91	MT-RNR1	Reference	\N	t	f
3827872	25	MT-RNR1	m.663A>G	\N	f	f
3827874	25	MT-RNR1	m.669T>C	\N	f	f
3827876	25	MT-RNR1	m.747A>G	\N	f	f
3827878	25	MT-RNR1	m.786G>A	\N	f	f
3827880	25	MT-RNR1	m.807A>C	\N	f	f
3827882	25	MT-RNR1	m.807A>G	\N	f	f
779313	156	SLCO1B1	*19	PV01634	f	f
779394	92	TPMT	*2	\N	f	f
3827884	25	MT-RNR1	m.827A>G	\N	f	f
3827886	25	MT-RNR1	m.839A>G	\N	f	f
3827888	25	MT-RNR1	m.896A>G	\N	f	f
3827890	25	MT-RNR1	m.930A>G	\N	f	f
3827892	25	MT-RNR1	m.951G>A	\N	f	f
3827894	25	MT-RNR1	m.960C>del	\N	f	f
3827896	25	MT-RNR1	m.961T>G	\N	f	f
3827898	25	MT-RNR1	m.961T>del	\N	f	f
3827900	25	MT-RNR1	m.961T>del+Cn	\N	f	f
3827902	25	MT-RNR1	m.988G>A	\N	f	f
6481206	2	NAT2	*16	PV02403	f	f
6481286	1	NAT2	*5G	\N	f	f
6481288	1	NAT2	*17	\N	f	f
6481290	1	NAT2	*5J	\N	f	f
6481292	1	NAT2	*5M	\N	f	f
6481294	1	NAT2	*6J	\N	f	f
6481296	1	NAT2	*5U	\N	f	f
6481208	2	NAT2	*19	PV02404	f	f
6481210	2	NAT2	*21	PV02405	f	f
6481212	2	NAT2	*27	PV02406	f	f
6481216	2	NAT2	*30	PV02408	f	f
6481218	2	NAT2	*31	PV02409	f	f
6481220	2	NAT2	*32	PV02410	f	f
6481222	2	NAT2	*33	PV02411	f	f
6481226	2	NAT2	*35	PV02413	f	f
6481228	2	NAT2	*36	PV02414	f	f
6481230	2	NAT2	*37	PV02415	f	f
6481232	2	NAT2	*38	PV02416	f	f
6481192	2	NAT2	*4	PV02396	f	f
6481236	2	NAT2	*40	PV02418	f	f
6481238	2	NAT2	*41	PV02419	f	f
6481240	2	NAT2	*42	PV02420	f	f
6481244	2	NAT2	*44	PV02422	f	f
6481246	2	NAT2	*45	PV02423	f	f
6481248	2	NAT2	*46	PV02424	f	f
6481250	2	NAT2	*47	PV02425	f	f
6481254	2	NAT2	*49	PV02427	f	f
6481194	2	NAT2	*5	PV02397	f	f
6481256	2	NAT2	*50	PV02428	f	f
6481258	2	NAT2	*51	PV02640	f	f
6481262	2	NAT2	*53	PV02644	f	f
6481264	2	NAT2	*54	PV02771	f	f
6481266	2	NAT2	*55	PV02776	f	f
6481268	2	NAT2	*56	PV02783	f	f
6481272	2	NAT2	*58	PV02787	f	f
6481274	2	NAT2	*59	PV02789	f	f
6481196	2	NAT2	*6	PV02398	f	f
6481276	2	NAT2	*60	PV02791	f	f
6481280	2	NAT2	*62	PV02795	f	f
6481282	2	NAT2	*63	PV02797	f	f
6481284	2	NAT2	*64	PV02799	f	f
6481198	2	NAT2	*7	PV02399	f	f
779102	162	NUDT15	*20	PV01616	f	f
1508724	73	ABCG2	rs2231142 reference (G)	\N	t	f
5881976	12	NUDT15	*21	PV02804	f	f
779068	162	NUDT15	*3	PV01599	f	f
779070	162	NUDT15	*4	PV01600	f	f
779072	162	NUDT15	*5	PV01601	f	f
779074	162	NUDT15	*6	PV01602	f	f
779076	162	NUDT15	*7	PV01603	f	f
779078	162	NUDT15	*8	PV01604	f	f
1002699	147	SLCO1B1	*44	PV01656	f	f
6481298	1	NAT2	*7G	\N	f	f
3685914	31	RYR1	c.14422_14423delinsAA	\N	f	f
779446	92	TPMT	*26	\N	f	f
779448	92	TPMT	*27	\N	f	f
779450	92	TPMT	*28	\N	f	f
779452	92	TPMT	*29	\N	f	f
779454	92	TPMT	*30	\N	f	f
779456	92	TPMT	*31	\N	f	f
779458	92	TPMT	*32	\N	f	f
779460	92	TPMT	*33	\N	f	f
779462	92	TPMT	*34	\N	f	f
779464	92	TPMT	*35	\N	f	f
779466	92	TPMT	*36	\N	f	f
779468	92	TPMT	*37	\N	f	f
779470	92	TPMT	*38	\N	f	f
779472	92	TPMT	*39	\N	f	f
779160	92	RYR1	c.742G>A	\N	f	f
779474	92	TPMT	*40	\N	f	f
779476	92	TPMT	*41	\N	f	f
779478	92	TPMT	*42	\N	f	f
3685398	31	RYR1	c.1144C>A	\N	f	f
3685428	31	RYR1	c.1565A>G	\N	f	f
3685458	31	RYR1	c.2537C>T	\N	f	f
3685488	31	RYR1	c.4024A>G	\N	f	f
3685520	31	RYR1	c.5440A>G	\N	f	f
3685550	31	RYR1	c.6488G>T	\N	f	f
3685580	31	RYR1	c.6743G>A	\N	f	f
779480	92	TPMT	*43	\N	f	f
779482	92	TPMT	*44	\N	f	f
779488	92	UGT1A1	*1	\N	t	f
779490	92	UGT1A1	*6	\N	f	f
779492	92	UGT1A1	*27	\N	f	f
779494	92	UGT1A1	*28	\N	f	f
779496	92	UGT1A1	*36	\N	f	f
779498	92	UGT1A1	*37	\N	f	f
779500	92	UGT1A1	*80	\N	f	f
779502	92	UGT1A1	*80+*28	\N	f	f
779504	92	UGT1A1	*80+*37	\N	f	f
779507	92	VKORC1	rs9923231 reference (C)	\N	t	f
779509	92	VKORC1	rs9923231 variant (T)	\N	f	f
778218	163	CYP3A5	*1	PV01323	t	f
778222	163	CYP3A5	*3	PV01325	f	f
778230	163	CYP3A5	*7	PV01329	f	f
778232	163	CYP3A5	*8	PV01330	f	f
778234	163	CYP3A5	*9	PV01331	f	f
779064	162	NUDT15	*1	PV01597	t	f
779082	162	NUDT15	*10	PV01606	f	f
779084	162	NUDT15	*11	PV01607	f	f
779086	162	NUDT15	*12	PV01608	f	f
779202	92	RYR1	c.7063C>T	\N	f	f
779088	162	NUDT15	*13	PV01609	f	f
779090	162	NUDT15	*14	PV01610	f	f
779206	92	RYR1	c.7282G>A	\N	f	f
3685646	31	RYR1	c.7292A>T	\N	f	f
779220	92	RYR1	c.7373G>A	\N	f	f
3685704	31	RYR1	c.7879G>C	\N	f	f
3685734	31	RYR1	c.8654C>G	\N	f	f
779092	162	NUDT15	*15	PV01611	f	f
779094	162	NUDT15	*16	PV01612	f	f
779096	162	NUDT15	*17	PV01613	f	f
3685764	31	RYR1	c.9850T>A	\N	f	f
3685794	31	RYR1	c.11120G>T	\N	f	f
3685824	31	RYR1	c.11958C>G	\N	f	f
3685854	31	RYR1	c.12533G>T	\N	f	f
3685884	31	RYR1	c.13918A>G	\N	f	f
779098	162	NUDT15	*18	PV01614	f	f
779100	162	NUDT15	*19	PV01615	f	f
779066	162	NUDT15	*2	PV01598	f	f
3685312	31	RYR1	c.97A>G	\N	f	f
3318589	62	CYP4F2	*10	PV02318	f	f
3685310	31	RYR1	c.51_53del	\N	f	f
778228	163	CYP3A5	*6	PV01328	f	f
779150	92	RYR1	c.103T>C	\N	f	f
3685316	31	RYR1	c.119G>C	\N	f	f
779152	92	RYR1	c.130C>T	\N	f	f
3685320	31	RYR1	c.131G>A	\N	f	f
3685322	31	RYR1	c.152C>A	\N	f	f
3685324	31	RYR1	c.178G>A	\N	f	f
3685326	31	RYR1	c.178G>T	\N	f	f
3685328	31	RYR1	c.190T>C	\N	f	f
3685330	31	RYR1	c.212C>A	\N	f	f
3685332	31	RYR1	c.251C>T	\N	f	f
3685334	31	RYR1	c.418G>A	\N	f	f
3685336	31	RYR1	c.455C>A	\N	f	f
3685338	31	RYR1	c.463C>A	\N	f	f
3685340	31	RYR1	c.467G>A	\N	f	f
3685342	31	RYR1	c.479A>G	\N	f	f
779154	92	RYR1	c.487C>T	\N	f	f
779156	92	RYR1	c.488G>T	\N	f	f
3685348	31	RYR1	c.488G>A	\N	f	f
3685528	31	RYR1	c.6178G>T	\N	f	f
3685350	31	RYR1	c.493G>A	\N	f	f
3685352	31	RYR1	c.496G>A	\N	f	f
3685354	31	RYR1	c.497A>G	\N	f	f
3685356	31	RYR1	c.526G>A	\N	f	f
3685358	31	RYR1	c.528G>T	\N	f	f
3685360	31	RYR1	c.529C>T	\N	f	f
3685362	31	RYR1	c.533A>G	\N	f	f
3685364	31	RYR1	c.533A>C	\N	f	f
3685368	31	RYR1	c.641C>T	\N	f	f
3685370	31	RYR1	c.652G>A	\N	f	f
3685372	31	RYR1	c.677T>A	\N	f	f
3685374	31	RYR1	c.680A>T	\N	f	f
779158	92	RYR1	c.742G>C	\N	f	f
3685380	31	RYR1	c.946C>T	\N	f	f
3685382	31	RYR1	c.947G>T	\N	f	f
779162	92	RYR1	c.982C>T	\N	f	f
3685386	31	RYR1	c.992_994dup	\N	f	f
779164	92	RYR1	c.1021G>A	\N	f	f
779166	92	RYR1	c.1021G>C	\N	f	f
3685392	31	RYR1	c.1024G>A	\N	f	f
3685394	31	RYR1	c.1100G>A	\N	f	f
3685396	31	RYR1	c.1100G>T	\N	f	f
779168	92	RYR1	c.1201C>T	\N	f	f
3685402	31	RYR1	c.1201C>A	\N	f	f
3685404	31	RYR1	c.1201C>G	\N	f	f
3685406	31	RYR1	c.1202G>T	\N	f	f
3685408	31	RYR1	c.1202G>A	\N	f	f
779170	92	RYR1	c.1209C>G	\N	f	f
3685412	31	RYR1	c.1411C>T	\N	f	f
3685414	31	RYR1	c.1422G>T	\N	f	f
3685416	31	RYR1	c.1453A>G	\N	f	f
3685418	31	RYR1	c.1459C>G	\N	f	f
3685420	31	RYR1	c.1460T>C	\N	f	f
3685422	31	RYR1	c.1475G>A	\N	f	f
3685424	31	RYR1	c.1553T>C	\N	f	f
779172	92	RYR1	c.1565A>C	\N	f	f
779174	92	RYR1	c.1589G>A	\N	f	f
779176	92	RYR1	c.1597C>T	\N	f	f
3685434	31	RYR1	c.1597C>A	\N	f	f
779178	92	RYR1	c.1598G>A	\N	f	f
3685438	31	RYR1	c.1615T>C	\N	f	f
3685440	31	RYR1	c.1615T>G	\N	f	f
3685442	31	RYR1	c.1630G>T	\N	f	f
779180	92	RYR1	c.1654C>T	\N	f	f
3685446	31	RYR1	c.1834G>C	\N	f	f
779182	92	RYR1	c.1840C>T	\N	f	f
779184	92	RYR1	c.1841G>T	\N	f	f
3685452	31	RYR1	c.2050G>C	\N	f	f
3685454	31	RYR1	c.2122G>A	\N	f	f
3685456	31	RYR1	c.2447C>T	\N	f	f
3685460	31	RYR1	c.2654G>A	\N	f	f
3685462	31	RYR1	c.2797G>A	\N	f	f
3685464	31	RYR1	c.2924G>A	\N	f	f
3685466	31	RYR1	c.2996G>A	\N	f	f
3685468	31	RYR1	c.3095G>A	\N	f	f
3685470	31	RYR1	c.3127C>T	\N	f	f
3685472	31	RYR1	c.3166G>C	\N	f	f
3685474	31	RYR1	c.3166G>A	\N	f	f
3685476	31	RYR1	c.3172G>A	\N	f	f
3685478	31	RYR1	c.3224G>A	\N	f	f
3685480	31	RYR1	c.3418C>T	\N	f	f
3685482	31	RYR1	c.3527C>T	\N	f	f
3685484	31	RYR1	c.3656A>C	\N	f	f
3685486	31	RYR1	c.3667G>A	\N	f	f
3685490	31	RYR1	c.4178A>G	\N	f	f
3685492	31	RYR1	c.4400A>G	\N	f	f
3685494	31	RYR1	c.4711A>G	\N	f	f
3685496	31	RYR1	c.4747C>T	\N	f	f
3685498	31	RYR1	c.4763C>T	\N	f	f
3685500	31	RYR1	c.4775C>T	\N	f	f
3685502	31	RYR1	c.5024T>C	\N	f	f
3685504	31	RYR1	c.5033A>G	\N	f	f
3685506	31	RYR1	c.5036G>A	\N	f	f
3685508	31	RYR1	c.5132A>G	\N	f	f
3685510	31	RYR1	c.5183C>T	\N	f	f
3685512	31	RYR1	c.5186T>G	\N	f	f
3685514	31	RYR1	c.5317C>T	\N	f	f
3685516	31	RYR1	c.5341T>C	\N	f	f
3685518	31	RYR1	c.5360C>T	\N	f	f
3685522	31	RYR1	c.5441T>A	\N	f	f
3685524	31	RYR1	c.5890C>T	\N	f	f
3685526	31	RYR1	c.6037A>C	\N	f	f
3685530	31	RYR1	c.6302T>A	\N	f	f
3685532	31	RYR1	c.6304G>C	\N	f	f
3685534	31	RYR1	c.6349G>C	\N	f	f
3685536	31	RYR1	c.6377G>A	\N	f	f
3685538	31	RYR1	c.6387C>G	\N	f	f
3685540	31	RYR1	c.6388G>A	\N	f	f
3685542	31	RYR1	c.6478G>A	\N	f	f
779186	92	RYR1	c.6487C>T	\N	f	f
779188	92	RYR1	c.6488G>A	\N	f	f
3685548	31	RYR1	c.6488G>C	\N	f	f
779190	92	RYR1	c.6502G>A	\N	f	f
3685554	31	RYR1	c.6544A>T	\N	f	f
3685556	31	RYR1	c.6548G>A	\N	f	f
3685558	31	RYR1	c.6599C>T	\N	f	f
3685982	31	RYR1	c.15060G>C	\N	f	f
778238	162	CYP4F2	*1	PV02212	t	f
3318591	62	CYP4F2	*11	PV02320	f	f
779148	92	RYR1	Reference	\N	t	f
3685308	31	RYR1	c.38T>G	\N	f	f
3685984	31	RYR1	c.14364+1G>T	\N	f	f
778104	163	CYP2D6	*93	PV00510	f	f
778327	92	DPYD	Reference	\N	t	f
778361	92	DPYD	c.868A>G	\N	f	f
778363	92	DPYD	c.929T>C	\N	f	f
778365	92	DPYD	c.934C>T	\N	f	f
778375	92	DPYD	c.1108A>G	\N	f	f
3942827	24	DPYD	c.1129-5923C>G	\N	f	f
778377	92	DPYD	c.1129-5923C>G, c.1236G>A (HapB3)	\N	f	f
778379	92	DPYD	c.1156G>T (*12)	\N	f	f
778381	92	DPYD	c.1180C>T	\N	f	f
778345	92	DPYD	c.496A>G	\N	f	f
778347	92	DPYD	c.498G>A	\N	f	f
778349	92	DPYD	c.525G>A	\N	f	f
778385	92	DPYD	c.1218G>A	\N	f	f
778387	92	DPYD	c.1260T>A	\N	f	f
777754	163	CYP2C9	*44	PV00580	f	f
778389	92	DPYD	c.1278G>T	\N	f	f
778391	92	DPYD	c.1294G>A	\N	f	f
778393	92	DPYD	c.1314T>G	\N	f	f
778395	92	DPYD	c.1349C>T	\N	f	f
778399	92	DPYD	c.1371C>T	\N	f	f
778158	163	CYP2D6	*120	PV00630	f	f
777960	158	CYP2D6	*13	PV00438	f	t
778367	92	DPYD	c.967G>A	\N	f	f
778369	92	DPYD	c.1003G>T (*11)	\N	f	f
778329	92	DPYD	c.46C>G	\N	f	f
778198	163	CYP2D6	*140	PV01361	f	f
778371	92	DPYD	c.1024G>A	\N	f	f
778401	92	DPYD	c.1403C>A	\N	f	f
778403	92	DPYD	c.1475C>T	\N	f	f
778405	92	DPYD	c.1484A>G	\N	f	f
778407	92	DPYD	c.1519G>A	\N	f	f
778409	92	DPYD	c.1543G>A	\N	f	f
778411	92	DPYD	c.1577C>G	\N	f	f
778413	92	DPYD	c.1601G>A (*4)	\N	f	f
778415	92	DPYD	c.1615G>A	\N	f	f
778417	92	DPYD	c.1627A>G (*5)	\N	f	f
778419	92	DPYD	c.1679T>G (*13)	\N	f	f
778421	92	DPYD	c.1682G>T	\N	f	f
778423	92	DPYD	c.1774C>T	\N	f	f
778425	92	DPYD	c.1775G>A	\N	f	f
6483104	1	CYP2D6	*68+*2	\N	f	f
778427	92	DPYD	c.1777G>A	\N	f	f
778429	92	DPYD	c.1796T>C	\N	f	f
778431	92	DPYD	c.1896T>C	\N	f	f
778433	92	DPYD	c.1898delC (*3)	\N	f	f
778437	92	DPYD	c.1905+1G>A (*2A)	\N	f	f
778445	92	DPYD	c.2161G>A	\N	f	f
778447	92	DPYD	c.2186C>T	\N	f	f
778449	92	DPYD	c.2194G>A (*6)	\N	f	f
778451	92	DPYD	c.2195T>G	\N	f	f
778455	92	DPYD	c.2303C>A	\N	f	f
778457	92	DPYD	c.2336C>A	\N	f	f
778459	92	DPYD	c.2482G>A	\N	f	f
778461	92	DPYD	c.2582A>G	\N	f	f
778463	92	DPYD	c.2623A>C	\N	f	f
778465	92	DPYD	c.2639G>T	\N	f	f
778467	92	DPYD	c.2656C>T	\N	f	f
778469	92	DPYD	c.2657G>A (*9B)	\N	f	f
778471	92	DPYD	c.2846A>T	\N	f	f
778473	92	DPYD	c.2872A>G	\N	f	f
778475	92	DPYD	c.2915A>G	\N	f	f
778477	92	DPYD	c.2921A>T	\N	f	f
778479	92	DPYD	c.2933A>G	\N	f	f
778481	92	DPYD	c.2978T>G	\N	f	f
778487	92	DPYD	c.3049G>A	\N	f	f
778489	92	DPYD	c.3061G>C	\N	f	f
778491	92	DPYD	c.3067C>A	\N	f	f
3685366	31	RYR1	c.625G>A	\N	f	f
3685560	31	RYR1	c.6612C>G	\N	f	f
779192	92	RYR1	c.6617C>G	\N	f	f
779194	92	RYR1	c.6617C>T	\N	f	f
3685566	31	RYR1	c.6628G>T	\N	f	f
3685568	31	RYR1	c.6635T>A	\N	f	f
3685570	31	RYR1	c.6640G>A	\N	f	f
3685572	31	RYR1	c.6671G>A	\N	f	f
3685574	31	RYR1	c.6670C>T	\N	f	f
3685576	31	RYR1	c.6710G>A	\N	f	f
3685578	31	RYR1	c.6742C>T	\N	f	f
3685582	31	RYR1	c.6757C>T	\N	f	f
3685584	31	RYR1	c.6838G>A	\N	f	f
3685586	31	RYR1	c.6847A>C	\N	f	f
3685588	31	RYR1	c.6961A>G	\N	f	f
779196	92	RYR1	c.7007G>A	\N	f	f
3685592	31	RYR1	c.7018T>C	\N	f	f
6483090	1	CYP2D6	*68+*4	\N	f	f
6483092	1	CYP2D6	*36+*10	\N	f	f
6483094	1	CYP2D6	*13+*1	\N	f	f
6483097	1	CYP2D6	*13+*2	\N	f	f
6483099	1	CYP2D6	*13+*68x2+*4	\N	f	f
6483101	1	CYP2D6	*36x2+*10	\N	f	f
777596	158	CYP2C19	*36	PV00730	f	t
777668	163	CYP2C9	*1	PV00537	t	f
777808	163	CYP2C9	*71	PV01444	f	f
1932995	113	CYP2C9	*81	PV01790	f	f
778134	163	CYP2D6	*108	PV00525	f	f
778194	163	CYP2D6	*138	PV00722	f	f
2091240	107	CYP2D6	*154	PV01934	f	f
2091248	107	CYP2D6	*158	PV01951	f	f
778331	92	DPYD	c.61C>T	\N	f	f
2677041	85	CYP2D6	*165	PV02201	f	f
778333	92	DPYD	c.62G>A	\N	f	f
778335	92	DPYD	c.85T>C (*9A)	\N	f	f
778339	92	DPYD	c.313G>A	\N	f	f
778341	92	DPYD	c.343A>G	\N	f	f
2899160	77	CYP2B6	*48	PV02284	f	f
777586	163	CYP2C19	*31	PV00625	f	f
777708	163	CYP2C9	*21	PV00557	f	f
777718	163	CYP2C9	*26	PV00562	f	f
777736	163	CYP2C9	*35	PV00571	f	f
778351	92	DPYD	c.557A>G	\N	f	f
778154	163	CYP2D6	*118	PV00535	f	f
778353	92	DPYD	c.601A>C	\N	f	f
778373	92	DPYD	c.1057C>T	\N	f	f
778383	92	DPYD	c.1181G>T	\N	f	f
778355	92	DPYD	c.632A>G	\N	f	f
778343	92	DPYD	c.451A>G	\N	f	f
778357	92	DPYD	c.703C>T (*8)	\N	f	f
778397	92	DPYD	c.1358C>G	\N	f	f
2899144	77	CYP2B6	*40	PV02268	f	f
778359	92	DPYD	c.775A>G	\N	f	f
1508726	73	ABCG2	rs2231142 variant (T)	\N	f	f
777264	92	CACNA1S	c.520C>T	\N	f	f
777315	92	CFTR	711+3A->G	\N	f	f
777309	92	CFTR	2789+5G->A	\N	f	f
777311	92	CFTR	3272-26A->G	\N	f	f
777313	92	CFTR	3849+10kbC->T	\N	f	f
777319	92	CFTR	A455E	\N	f	f
777317	92	CFTR	A1067T	\N	f	f
777321	92	CFTR	D110E	\N	f	f
777323	92	CFTR	D110H	\N	f	f
777329	92	CFTR	D579G	\N	f	f
777325	92	CFTR	D1152H	\N	f	f
777327	92	CFTR	D1270N	\N	f	f
777331	92	CFTR	E193K	\N	f	f
777335	92	CFTR	E831X	\N	f	f
777337	92	CFTR	F1052V	\N	f	f
777347	92	CFTR	G178R	\N	f	f
777349	92	CFTR	G551D	\N	f	f
777351	92	CFTR	G551S	\N	f	f
777341	92	CFTR	G1069R	\N	f	f
777343	92	CFTR	G1244E	\N	f	f
777345	92	CFTR	G1349D	\N	f	f
777353	92	CFTR	K1060T	\N	f	f
777355	92	CFTR	L206W	\N	f	f
777371	92	CFTR	R74W	\N	f	f
777363	92	CFTR	R117C	\N	f	f
777365	92	CFTR	R117H	\N	f	f
777367	92	CFTR	R347H	\N	f	f
777369	92	CFTR	R352Q	\N	f	f
777359	92	CFTR	R1070Q	\N	f	f
777361	92	CFTR	R1070W	\N	f	f
777377	92	CFTR	S549N	\N	f	f
777381	92	CFTR	S549R(T>G)	\N	f	f
777383	92	CFTR	S945L	\N	f	f
777385	92	CFTR	S977F	\N	f	f
777373	92	CFTR	S1251N	\N	f	f
777375	92	CFTR	S1255P	\N	f	f
777422	163	CYP2B6	*1	PV00738	t	f
777424	163	CYP2B6	*2	PV00740	f	f
777426	163	CYP2B6	*3	PV00741	f	f
6483457	2	NAT2	*65	PV02991	f	f
6483459	2	NAT2	*66	PV02993	f	f
6483461	2	NAT2	*67	PV02995	f	f
6483463	2	NAT2	*68	PV02997	f	f
6483465	2	NAT2	*69	PV02999	f	f
777582	163	CYP2C19	*29	PV00623	f	f
777584	163	CYP2C19	*30	PV02141	f	f
777588	163	CYP2C19	*32	PV00626	f	f
777590	163	CYP2C19	*33	PV00627	f	f
778160	163	CYP2D6	*121	PV00631	f	f
778174	163	CYP2D6	*128	PV01408	f	f
6481202	2	NAT2	*14	PV02401	f	f
6481214	2	NAT2	*29	PV02407	f	f
6481224	2	NAT2	*34	PV02412	f	f
6481234	2	NAT2	*39	PV02417	f	f
6481242	2	NAT2	*43	PV02421	f	f
6481252	2	NAT2	*48	PV02426	f	f
6481260	2	NAT2	*52	PV02642	f	f
6481270	2	NAT2	*57	PV02785	f	f
6481278	2	NAT2	*61	PV02793	f	f
779295	156	SLCO1B1	*10	PV01627	f	f
778100	163	CYP2D6	*91	PV00508	f	f
778102	163	CYP2D6	*92	PV00509	f	f
778106	163	CYP2D6	*94	PV00511	f	f
778110	163	CYP2D6	*96	PV00513	f	f
778439	92	DPYD	c.1906A>C	\N	f	f
778441	92	DPYD	c.1990G>T	\N	f	f
778443	92	DPYD	c.2021G>A	\N	f	f
778666	93	G6PD	B (reference)	\N	t	f
778748	92	G6PD	A- 680T_376G	\N	f	f
778750	92	G6PD	A- 968C_376G	\N	f	f
778916	92	G6PD	Aachen	\N	f	f
778962	92	G6PD	Abeno	\N	f	f
778950	92	G6PD	Alhambra	\N	f	f
778702	92	G6PD	Amazonia	\N	f	f
779006	92	G6PD	Amiens	\N	f	f
778700	92	G6PD	Amsterdam	\N	f	f
778956	92	G6PD	Anadia	\N	f	f
778746	92	G6PD	Ananindeua	\N	f	f
779036	92	G6PD	Arakawa	\N	f	f
778708	92	G6PD	Asahi	\N	f	f
778686	92	G6PD	Aures	\N	f	f
778836	92	G6PD	Aveiro	\N	f	f
778858	92	G6PD	Bajo Maumere	\N	f	f
778844	92	G6PD	Bangkok	\N	f	f
779008	92	G6PD	Bangkok Noi	\N	f	f
778738	92	G6PD	Bao Loc	\N	f	f
778952	92	G6PD	Bari	\N	f	f
778766	92	G6PD	Belem	\N	f	f
779034	92	G6PD	Buenos Aires	\N	f	f
778762	92	G6PD	Cairo	\N	f	f
778922	92	G6PD	Calvo Mackenna	\N	f	f
779032	92	G6PD	Campinas	\N	f	f
779012	92	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	\N	f	f
778994	92	G6PD	Cassano	\N	f	f
778894	92	G6PD	Chatham	\N	f	f
778794	92	G6PD	Chikugo	\N	f	f
778854	92	G6PD	Chinese-1	\N	f	f
778900	92	G6PD	Chinese-5	\N	f	f
778816	92	G6PD	Cincinnati	\N	f	f
778840	92	G6PD	Cleveland Corum	\N	f	f
778958	92	G6PD	Covao do Lobo	\N	f	f
778740	92	G6PD	Crispim	\N	f	f
778810	92	G6PD	Dagua	\N	f	f
778830	92	G6PD	Durham	\N	f	f
778888	92	G6PD	Farroupilha	\N	f	f
779004	92	G6PD	Figuera da Foz	\N	f	f
779018	92	G6PD	Flores	\N	f	f
779030	92	G6PD	Fukaya	\N	f	f
778896	92	G6PD	Fushan	\N	f	f
778674	92	G6PD	Gaohe	\N	f	f
778978	92	G6PD	Georgia	\N	f	f
778680	92	G6PD	Gidra	\N	f	f
779010	92	G6PD	Cosenza	\N	f	f
778698	92	G6PD	Costanzo	\N	f	f
778936	92	G6PD	Guadalajara	\N	f	f
778726	92	G6PD	Guangzhou	\N	f	f
778852	92	G6PD	Haikou	\N	f	f
778734	92	G6PD	Hammersmith	\N	f	f
778818	92	G6PD	Harilaou	\N	f	f
778998	92	G6PD	Harima	\N	f	f
778940	92	G6PD	Hartford	\N	f	f
778710	92	G6PD	Hechi	\N	f	f
778996	92	G6PD	Hermoupolis	\N	f	f
778676	92	G6PD	Honiara	\N	f	f
778770	92	G6PD	Ilesha	\N	f	f
778890	92	G6PD	Insuli	\N	f	f
778934	92	G6PD	Iowa, Walter Reed, Springfield	\N	f	f
778908	92	G6PD	Iwatsuki	\N	f	f
778970	92	G6PD	Japan, Shinagawa	\N	f	f
779022	92	G6PD	Kaiping, Anant, Dhon, Sapporo-like, Wosera	\N	f	f
778880	92	G6PD	Kalyan-Kerala, Jamnaga, Rohini	\N	f	f
778688	92	G6PD	Kambos	\N	f	f
779016	92	G6PD	Kamiube, Keelung	\N	f	f
778692	92	G6PD	Kamogawa	\N	f	f
778972	92	G6PD	Kawasaki	\N	f	f
778690	92	G6PD	Kozukata	\N	f	f
778944	92	G6PD	Krakow	\N	f	f
778848	92	G6PD	La Jolla	\N	f	f
778672	92	G6PD	Lages	\N	f	f
779026	92	G6PD	Laibin	\N	f	f
778842	92	G6PD	Lille	\N	f	f
778768	92	G6PD	Liuzhou	\N	f	f
778914	92	G6PD	Loma Linda	\N	f	f
778878	92	G6PD	Ludhiana	\N	f	f
778930	92	G6PD	Lynwood	\N	f	f
778932	92	G6PD	Madrid	\N	f	f
778776	92	G6PD	Mahidol	\N	f	f
778796	92	G6PD	Malaga	\N	f	f
778884	92	G6PD	Manhattan	\N	f	f
778984	92	G6PD	Mediterranean Haplotype	\N	f	f
778696	92	G6PD	Metaponto	\N	f	f
778822	92	G6PD	Mexico City	\N	f	f
778790	92	G6PD	Miaoli	\N	f	f
778814	92	G6PD	Minnesota, Marion, Gastonia, LeJeune	\N	f	f
778902	92	G6PD	Mira d'Aire	\N	f	f
778860	92	G6PD	Mizushima	\N	f	f
778868	92	G6PD	Montalbano	\N	f	f
778920	92	G6PD	Montpellier	\N	f	f
778754	92	G6PD	Mt Sinai	\N	f	f
778974	92	G6PD	Munich	\N	f	f
778718	92	G6PD	Murcia Oristano	\N	f	f
778704	92	G6PD	Musashino	\N	f	f
778716	92	G6PD	Namouru	\N	f	f
778788	92	G6PD	Nankang	\N	f	f
778828	92	G6PD	Nanning	\N	f	f
778784	92	G6PD	Naone	\N	f	f
778882	92	G6PD	Nara	\N	f	f
778948	92	G6PD	Nashville, Anaheim, Portici	\N	f	f
779024	92	G6PD	Neapolis	\N	f	f
779014	92	G6PD	Nice	\N	f	f
778808	92	G6PD	Nilgiri	\N	f	f
778668	92	G6PD	No name	\N	f	f
778824	92	G6PD	North Dallas	\N	f	f
778926	92	G6PD	Olomouc	\N	f	f
778876	92	G6PD	Omiya	\N	f	f
778684	92	G6PD	Orissa	\N	f	f
778866	92	G6PD	Osaka	\N	f	f
778694	92	G6PD	Palestrina	\N	f	f
778862	92	G6PD	Papua	\N	f	f
778904	92	G6PD	Partenope	\N	f	f
778986	92	G6PD	Pawnee	\N	f	f
778864	92	G6PD	Piotrkow	\N	f	f
778778	92	G6PD	Plymouth	\N	f	f
778942	92	G6PD	Praha	\N	f	f
778760	92	G6PD	Quing Yan	\N	f	f
778820	92	G6PD	Radlowo	\N	f	f
778886	92	G6PD	Rehevot	\N	f	f
778682	92	G6PD	Rignano	\N	f	f
778924	92	G6PD	Riley	\N	f	f
778968	92	G6PD	Riverside	\N	f	f
778838	92	G6PD	Roubaix	\N	f	f
778992	92	G6PD	S. Antioco	\N	f	f
778758	92	G6PD	Salerno Pyrgos	\N	f	f
778806	92	G6PD	Santiago	\N	f	f
778736	92	G6PD	Sao Borja	\N	f	f
778856	92	G6PD	Seattle, Lodi, Modena, Ferrara II, Athens-like	\N	f	f
778874	92	G6PD	Seoul	\N	f	f
778910	92	G6PD	Serres	\N	f	f
778772	92	G6PD	Shenzen	\N	f	f
778792	92	G6PD	Shinshu	\N	f	f
778812	92	G6PD	Sibari	\N	f	f
778730	92	G6PD	Sierra Leone	\N	f	f
778670	92	G6PD	Sinnai	\N	f	f
778706	92	G6PD	Songklanagarind	\N	f	f
779028	92	G6PD	Split	\N	f	f
778832	92	G6PD	Stonybrook	\N	f	f
778846	92	G6PD	Sugao	\N	f	f
778982	92	G6PD	Sumare	\N	f	f
778678	92	G6PD	Sunderland	\N	f	f
778980	92	G6PD	Surabaya	\N	f	f
778966	92	G6PD	Suwalki	\N	f	f
778720	92	G6PD	Swansea	\N	f	f
3564276	33	G6PD	Telti, Kobe	\N	f	f
778918	92	G6PD	Tenri	\N	f	f
778976	92	G6PD	Tokyo, Fukushima	\N	f	f
778782	92	G6PD	Toledo	\N	f	f
778928	92	G6PD	Tomah	\N	f	f
778912	92	G6PD	Tondela	\N	f	f
778898	92	G6PD	Torun	\N	f	f
778798	92	G6PD	Tsukui	\N	f	f
778722	92	G6PD	Ube Konan	\N	f	f
779000	92	G6PD	Union,Maewo, Chinese-2, Kalo	\N	f	f
778728	92	G6PD	Urayasu	\N	f	f
778964	92	G6PD	Utrecht	\N	f	f
778764	92	G6PD	Valladolid	\N	f	f
778732	92	G6PD	Vancouver	\N	f	f
778756	92	G6PD	Vanua Lava	\N	f	f
778870	92	G6PD	Viangchan, Jammu	\N	f	f
778892	92	G6PD	Villeurbanne	\N	f	f
778786	92	G6PD	Volendam	\N	f	f
778834	92	G6PD	Wayne	\N	f	f
778850	92	G6PD	Wexham	\N	f	f
778960	92	G6PD	Clinic	\N	f	f
778804	92	G6PD	Coimbra Shunde	\N	f	f
3685598	31	RYR1	c.7035C>A	\N	f	f
3685600	31	RYR1	c.7036G>A	\N	f	f
779198	92	RYR1	c.7042_7044delGAG	\N	f	f
3685604	31	RYR1	c.7043A>G	\N	f	f
779200	92	RYR1	c.7048G>A	\N	f	f
3685608	31	RYR1	c.7060G>A	\N	f	f
3685594	31	RYR1	c.7025A>G	\N	f	f
3685596	31	RYR1	c.7032G>C	\N	f	f
3685612	31	RYR1	c.7073T>A	\N	f	f
3685614	31	RYR1	c.7076G>A	\N	f	f
3685616	31	RYR1	c.7075C>T	\N	f	f
3685618	31	RYR1	c.7084G>A	\N	f	f
3685620	31	RYR1	c.7085A>G	\N	f	f
3685622	31	RYR1	c.7089C>G	\N	f	f
3685624	31	RYR1	c.7090T>G	\N	f	f
3685626	31	RYR1	c.7097C>G	\N	f	f
3685628	31	RYR1	c.7099G>A	\N	f	f
3685630	31	RYR1	c.7112A>G	\N	f	f
3685632	31	RYR1	c.7123G>A	\N	f	f
779204	92	RYR1	c.7124G>C	\N	f	f
3685636	31	RYR1	c.7199A>G	\N	f	f
3685638	31	RYR1	c.7210G>A	\N	f	f
3685642	31	RYR1	c.7291G>A	\N	f	f
3685644	31	RYR1	c.7291G>T	\N	f	f
779208	92	RYR1	c.7300G>A	\N	f	f
779210	92	RYR1	c.7304G>A	\N	f	f
3685652	31	RYR1	c.7304G>T	\N	f	f
3685654	31	RYR1	c.7307G>A	\N	f	f
3685656	31	RYR1	c.7310C>T	\N	f	f
3685658	31	RYR1	c.7317G>C	\N	f	f
779212	92	RYR1	c.7354C>T	\N	f	f
3685662	31	RYR1	c.7355G>A	\N	f	f
3685664	31	RYR1	c.7355G>C	\N	f	f
3685666	31	RYR1	c.7358T>C	\N	f	f
779214	92	RYR1	c.7360C>T	\N	f	f
779216	92	RYR1	c.7361G>A	\N	f	f
779218	92	RYR1	c.7372C>T	\N	f	f
3685676	31	RYR1	c.7373G>T	\N	f	f
3685678	31	RYR1	c.7385C>T	\N	f	f
3685680	31	RYR1	c.7487C>T	\N	f	f
779222	92	RYR1	c.7522C>T	\N	f	f
779224	92	RYR1	c.7522C>G	\N	f	f
779226	92	RYR1	c.7523G>A	\N	f	f
3685688	31	RYR1	c.7528T>C	\N	f	f
3685690	31	RYR1	c.7760A>G	\N	f	f
3685692	31	RYR1	c.7771C>G	\N	f	f
3685696	31	RYR1	c.7777C>G	\N	f	f
3685698	31	RYR1	c.7778G>A	\N	f	f
3685700	31	RYR1	c.7787C>T	\N	f	f
3685702	31	RYR1	c.7816T>A	\N	f	f
3685706	31	RYR1	c.7879G>A	\N	f	f
3685708	31	RYR1	c.8005G>A	\N	f	f
3685710	31	RYR1	c.8026C>T	\N	f	f
3685712	31	RYR1	c.8054C>T	\N	f	f
3685714	31	RYR1	c.8188G>C	\N	f	f
3685716	31	RYR1	c.8189A>G	\N	f	f
3685718	31	RYR1	c.8198G>A	\N	f	f
3685720	31	RYR1	c.8290G>A	\N	f	f
3685722	31	RYR1	c.8327C>T	\N	f	f
3685724	31	RYR1	c.8360C>G	\N	f	f
3685728	31	RYR1	c.8527T>C	\N	f	f
3685730	31	RYR1	c.8600T>A	\N	f	f
3685732	31	RYR1	c.8638G>A	\N	f	f
3685736	31	RYR1	c.8729C>T	\N	f	f
3685738	31	RYR1	c.8926C>T	\N	f	f
3685740	31	RYR1	c.9152G>A	\N	f	f
3685742	31	RYR1	c.9268G>A	\N	f	f
779228	92	RYR1	c.9310G>A	\N	f	f
3685746	31	RYR1	c.9356G>A	\N	f	f
3685748	31	RYR1	c.9499C>T	\N	f	f
3685750	31	RYR1	c.9635A>G	\N	f	f
3685752	31	RYR1	c.9649T>C	\N	f	f
3685754	31	RYR1	c.9652G>A	\N	f	f
3685756	31	RYR1	c.9676G>C	\N	f	f
3685760	31	RYR1	c.9797T>C	\N	f	f
3685762	31	RYR1	c.9848G>A	\N	f	f
3685766	31	RYR1	c.9868G>A	\N	f	f
3685768	31	RYR1	c.10042C>T	\N	f	f
3685770	31	RYR1	c.10043G>A	\N	f	f
3685772	31	RYR1	c.10097G>A	\N	f	f
3685774	31	RYR1	c.10100A>G	\N	f	f
3685776	31	RYR1	c.10229C>A	\N	f	f
3685778	31	RYR1	c.10237A>T	\N	f	f
3685780	31	RYR1	c.10252A>G	\N	f	f
3685782	31	RYR1	c.10556C>T	\N	f	f
3685784	31	RYR1	c.10616G>A	\N	f	f
3685786	31	RYR1	c.10747G>C	\N	f	f
3685788	31	RYR1	c.10750G>C	\N	f	f
3685792	31	RYR1	c.11086G>C	\N	f	f
3685796	31	RYR1	c.11126C>T	\N	f	f
3685798	31	RYR1	c.11132C>T	\N	f	f
3685800	31	RYR1	c.11266C>G	\N	f	f
3685802	31	RYR1	c.11315G>A	\N	f	f
3685804	31	RYR1	c.11314C>T	\N	f	f
3685806	31	RYR1	c.11416G>A	\N	f	f
3685808	31	RYR1	c.11518G>A	\N	f	f
3685810	31	RYR1	c.11708G>A	\N	f	f
3685812	31	RYR1	c.11723A>T	\N	f	f
3685814	31	RYR1	c.11748T>G	\N	f	f
3685816	31	RYR1	c.11798A>G	\N	f	f
3685818	31	RYR1	c.11813G>A	\N	f	f
3685820	31	RYR1	c.11947C>T	\N	f	f
779230	92	RYR1	c.11969G>T	\N	f	f
3685828	31	RYR1	c.12028G>A	\N	f	f
3685830	31	RYR1	c.12064A>G	\N	f	f
3685832	31	RYR1	c.12115A>T	\N	f	f
3685834	31	RYR1	c.12121C>T	\N	f	f
3685836	31	RYR1	c.12149C>A	\N	f	f
3685838	31	RYR1	c.12242C>T	\N	f	f
3685840	31	RYR1	c.12310G>C	\N	f	f
3685842	31	RYR1	c.12355A>T	\N	f	f
3685844	31	RYR1	c.12383C>T	\N	f	f
3685846	31	RYR1	c.12398A>G	\N	f	f
3685848	31	RYR1	c.12406C>A	\N	f	f
3685850	31	RYR1	c.12413T>C	\N	f	f
3685852	31	RYR1	c.12532G>A	\N	f	f
3685858	31	RYR1	c.12689T>G	\N	f	f
3685860	31	RYR1	c.12700G>C	\N	f	f
3685862	31	RYR1	c.12700G>T	\N	f	f
3685864	31	RYR1	c.12848A>T	\N	f	f
3685866	31	RYR1	c.12881C>T	\N	f	f
3685868	31	RYR1	c.12884C>T	\N	f	f
3685870	31	RYR1	c.13505A>G	\N	f	f
3685872	31	RYR1	c.13513G>C	\N	f	f
778946	92	G6PD	Wisconsin	\N	f	f
779020	92	G6PD	Yunan	\N	f	f
\.


--
