3685803	120	RYR1	c.11315G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685802	{33767344}	\N	\N	PS4_Mod, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
3685809	120	RYR1	c.11518G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685808	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": 0.0003846, "Near Eastern": null, "Central/South Asian": 0.0002072, "Sub-Saharan African": 0.000145}	f
3685813	120	RYR1	c.11723A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685812	{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
3685817	120	RYR1	c.11798A>G	Likely Benign	Normal function	\N	n/a	3685816	{33767344}	\N	\N	PP3_Mod, BS1	{"Latino": 0.002551, "American": null, "European": 0.001647, "East Asian": null, "Near Eastern": 0.001441, "Central/South Asian": 0.0008288, "Sub-Saharan African": 0.0000966}	f
779292	307	SLCO1B1	*8	\N	Uncertain function	\N	\N	779291	{11477075,12490595}	Inadequate	\N	SLCO1B1*8 is assigned uncertain function based on in vitro studies demonstrating unaltered 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": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002690	301	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
110054	121	HLA-A	*31:01	\N	\N	\N	\N	9000	\N	\N	\N	\N	{"Latino": 0.04523886, "American": 0.061688375, "European": 0.026442025, "Oceanian": 0.010846613, "East Asian": 0.03451316, "Near Eastern": 0.011130483, "Central/South Asian": 0.03301915, "Sub-Saharan African": 0.007987001, "African American/Afro-Caribbean": 0.009934212}	f
3685659	120	RYR1	c.7317G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685658	{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
779219	308	RYR1	c.7372C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779218	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779300	307	SLCO1B1	*12	Decreased function	Uncertain function	\N	\N	779299	{11477075,12490595}	Inadequate	\N	SLCO1B1*12 is assigned uncertain function based on limited in vitro evidence and no clinical data. In in vitro studies, SLCO1B1*12 demonstrated reduced uptake of estrone sulfate and estradiol 17beta-glucuronide (11477075), as well as rifampin (12490595) compared to wildtype. 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
779302	307	SLCO1B1	*13	Decreased function	Uncertain function	\N	\N	779301	{11477075,12490595}	Inadequate	\N	SLCO1B1*13 is assigned uncertain function based on limited in vitro evidence and no clinical data. In in vitro studies, SLCO1B1*13 demonstrated reduced uptake of estrone sulfate and estradiol 17beta-glucuronide (11477075), as well as rifampin (12490595) compared to wildtype. 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
1002694	301	SLCO1B1	*41	\N	Uncertain function	\N	\N	1002693	{22232210}	Inadequate	\N	SLCO1B1*41 is assigned uncertain function due to no literature describing function of this allele with regard to drug metabolism. This variant introduces a splice donor site and has been implicated in Rotor syndrome (22232210). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": 0.00010, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002700	301	SLCO1B1	*44	\N	Unknown function	\N	\N	1002699	{}	No evidence	\N	SLCO1B1*44 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.	{"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
778241	181	CYP4F2	*2	\N	\N	\N	\N	778240	\N	\N	\N	\N	{"Latino": 0.1669, "American": null, "European": 0.15959753, "East Asian": 0.084, "Near Eastern": 0.2107, "Central/South Asian": 0.1694, "Sub-Saharan African": 0.2329, "African American/Afro-Caribbean": null}	f
3685707	120	RYR1	c.7879G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685706	{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
777431	329	CYP2B6	*5	Normal function	Normal function	\N	\N	777430	{11470993,12642465,17559344,20662624,20841522,21659470,22354160,23254426,23399569,23990572,25897175,26389554,26655325,31324697,32238417}	Strong	\N	CYP2B6*5 (c.1459C>T, p.R487C) - Normal function: CYP2B6*5 is assigned normal function based on in vivo (heterozygous and homozygous patients) and in vitro studies. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that carriers of the CYP2B6*5 allele had similar efavirenz plasma concentrations compared to the *1 reference (20662624, 20841522, 22354160, 23254426, 23399569, 23990572). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months found that the CYP2B6*5 allele did not impact long term efavirenz exposure (26655325). In human liver microsomes, decreased protein expression and/or activity was reported (11470993, 17559344). In in vitro expression systems, activity ranged from decreased (32238417, 31324697) to no change (21659470) and increased (12642465, 25897175) activity compared to the *1 reference with various substrates. Since differences in protein expression and enzyme activity observed in vitro were not reflected by meaningful differences in vivo in numerous clinical studies (20662624, 20841522, 22354160, 23254426, 23399569, 23990572, 26389554), consensus among experts was normal function based on strong evidence.	{"Latino": 0.038105432, "European": 0.11547839, "Oceanian": 0.02, "East Asian": 0.011, "Near Eastern": 0.024, "Central/South Asian": null, "Sub-Saharan African": 0.02, "African American/Afro-Caribbean": 0.062061857}	f
777471	329	CYP2B6	*26	Decreased function	Decreased function	\N	\N	777470	{17918089,30085944,30201214,32238417,34100292,18171905,24260284}	Limited	\N	CYP2B6*26 (c.499C>G, p.P167A; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*26 is assigned decreased function. CYP2B6*26 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). One study evaluating efavirenz plasma concentrations among patients with HIV found CYP2B6*26 was associated with elevated efavirenz concentrations compared to the *1 reference and has similar function to CYP2B6*6. This was demonstrated by similar efavirenz concentrations among CYP2B6 *6/*26 subjects CYP2B6 *6/*6 subjects (17918089). Although one in vitro study using a cDNA expression system found that CYP2B6*26 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*26. 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
779290	307	SLCO1B1	*7	\N	Uncertain function	\N	\N	779289	{11477075,12490595}	Inadequate	\N	SLCO1B1*7 is assigned uncertain function based on in vitro studies demonstrating reduced uptake of estradiol 17beta-d-glucuronide and rifampin, but not of estrone sulfate (11477075, 12490595) 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
777549	329	CYP2C19	*9	\N	Decreased function	\N	\N	777548	{12464799,21325430,25001882,21692664}	Limited	\N	CYP2C19*9 is assigned decreased function based on limited evidence. Three in vitro studies using different cell systems found CYP2C19*9 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (12464799, 21325430, 25001882). Another study found CYP2C19*9 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates (21692664).Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0008389262, "American": null, "European": 0.0006602626, "Oceanian": null, "East Asian": 0.00011504832, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.026961539, "African American/Afro-Caribbean": 0.014347053}	f
777563	329	CYP2C19	*16	\N	Decreased function	\N	\N	777562	{15499191,21325430,25001882,21692664}	Limited	\N	CYP2C19*16 is assigned normal function based on limited evidence. A subject with CYP2C19 *2/*16 genotype demonstrated decreased mephobarbital excretion compared to heterozygous CYP2C19 *2 or CYP2C19*3 subjects but greater mephobarbital excretion compared to subjects carrying two no function alleles based on urine metabolites after a 200mg dose (15499191). Two in vitro studies using different cell systems found CYP2C19*16 had nondetectable or decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (25001882, 21325430). Another study found CYP2C19*16 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates (21692664).Therefore, consensus among experts was decreased function 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": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
778239	181	CYP4F2	*1	\N	\N	\N	\N	778238	\N	\N	\N	\N	{"Latino": 0.5747943, "American": 0.5892313, "European": 0.56578875, "East Asian": 0.68352926, "Near Eastern": 0.43842018, "Central/South Asian": 0.42774868, "Sub-Saharan African": 0.6682824, "African American/Afro-Caribbean": 0.9237665}	t
3685911	120	RYR1	c.14270G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685910	{35849058}	\N	\N	PM1_Sup, BP4	{"Latino": null, "American": null, "European": 0.0002352, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00007241}	f
779233	308	RYR1	c.14387A>G	Variant of uncertain significance	Uncertain function	\N	n/a	779232	{}	\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
3685917	120	RYR1	c.14424C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685916	{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
3685921	120	RYR1	c.14458G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685920	{35849058}	\N	\N	PS4_Sup, PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779282	308	SLCO1B1	*3	\N	Uncertain function	\N	\N	779281	{11477075,12490595}	Inadequate	\N	SLCO1B1*3 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
779288	308	SLCO1B1	*6	\N	Uncertain function	\N	\N	779287	{11477075,12490595}	Inadequate	\N	SLCO1B1*6 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": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779296	308	SLCO1B1	*10	\N	Uncertain function	\N	\N	779295	{11477075,12490595}	Inadequate	\N	SLCO1B1*10 is assigned uncertain function based on in vitro studies demonstrating reduced uptake of estrone sulfate, but not of estradiol 17beta-d-glucuronide and rifampin (11477075, 12490595) 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
1357092	290	SLCO1B1	*48	\N	No function	\N	\N	1357091	{22232210}	Limited	\N	SLCO1B1*48 is assigned no function due to evidence supporting a full 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
777671	329	CYP2C9	*2	Decreased function	Decreased function	\N	0.5	777670	{29283396,20150829,1563752,12742136,10413320,27179628,25775139,19082874,30088221,15637526}	Definitive	\N	CYP2C9*2 is assigned decreased function based on definitive evidence in homozygous and heterozygous patients and in vitro experimental data. CYP2C9*2 has been studied for more than 20 years and its association with impaired function compared to wildtype is well-established (29283396, 20150829, 15637526). The phenotype for patients homozygous for the CYP2C9*2 variant was updated from poor metabolizer to intermediate metabolizer after reevaluation of prior and new evidence demonstrating CYP2C9*2 has more enzyme activity than CYP2C9*3, which results in in a similar phenotype for CYP2C9*1/*3 and CYP2C9 *2/*2 patients (12742136, 10413320, 27179628, 25775139, 19082874, 30088221), both of which can be distinguished from those homozygous for CYP2C9*3/*3. Therefore, consensus among experts was decreased function with an activity value of 0.5 based on definitive evidence.	{"Latino": 0.07625658, "American": 0.033402413, "European": 0.1273007, "Oceanian": 0.029310955, "East Asian": 0.0021256818, "Near Eastern": 0.12977302, "Central/South Asian": 0.11379695, "Sub-Saharan African": 0.013114594, "African American/Afro-Caribbean": 0.02243724}	f
1002692	301	SLCO1B1	*40	\N	Uncertain function	\N	\N	1002691	{11477075,21245207,32961594}	No evidence	\N	SLCO1B1*40 contains the rs4149056C>T variant that decreases function (also present in *5) and the rs34671512A>C variant that may increase function (present in *19 and *20). Based on evidence supporting the function of rs4149056C>T (11477075, 32961594, 21245207), SLCO1B1*40 is assigned uncertain function due to no 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
779505	307	UGT1A1	*80+*37	\N	Decreased function	\N	\N	779504	{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
1002698	301	SLCO1B1	*43	\N	Unknown function	\N	\N	1002697	{}	No evidence	\N	SLCO1B1*43 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.	{"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
777677	329	CYP2C9	*5	Decreased function	Decreased function	\N	0.5	777676	{23752738,15289788,11455026,16220110,17504998,21811894,11901091}	Strong	\N	CYP2C9*5 is assigned decreased function based on strong evidence in heterozygous patients and in vitro studies. Three subjects carrying the CYP2C9*5 allele (CYP2C9*1/*5, CYP2C9*5/*6, CYP2C9*5/*8 genotype) had decreased losartan metabolism compared to wildtype based on urinary metabolites after a single 25mg dose (15289788). Two CYP2C9 *1/*5 subjects, one CYP2C9 *5/*6 subject, and one CYP2C9*5/*8 subject had lower phenytoin metabolism compared to wildtype based on urinary excretion of a phenytoin metabolite after a single 300mg dose. Additionally, the CYP2C9 *5/*6 subject demonstrated the lowest phenytoin metabolism as the only subject of the 109 subject cohort to have a urinary metabolite concentration below the limit of quantification (16220110). One CYP2C9 *5/*8 demonstrated the lowest acenocoumarol metabolism based on plasma concentrations in a 36 subject cohort (21811894). One CYP2C9*1/*5 subject demonstrated decreased indisulam metabolism with an AUC nearly two times greater than wildtype subjects (17504998). These results correlated with in vitro pharmacokinetic studies which demonstrated decreased clearance of warfarin, diclofenac, flurbiprofen, naproxen, and piroxicam compared to wildtype (11455026, 11901091). A separate in vitro study found CYP2C9*5 has decreased enzyme activity compared to wildtype with warfarin and tolbutamide substrates that (23752738). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on strong evidence.	{"Latino": 0.00871987, "American": 0.0014913112, "European": 0.00017448276, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.00052266667, "Central/South Asian": 0.0, "Sub-Saharan African": 0.010325842, "African American/Afro-Caribbean": 0.011626912}	f
777705	329	CYP2C9	*19	Uncertain function	Uncertain function	\N	n/a	777704	{23752738,23844998,24118918,25142737,25476996,25144335,25951663,25614704,25832633,25884291,27163851,24077631,16099926}	Inadequate evidence	\N	CYP2C9*19 is assigned uncertain function due to inadequate evidence. One subject with CYP2C9*1/*19 genotype exhibited decreased clearance compared to wildtype subjects based on tolbutamide plasma concentrations and urine metabolite concentrations after one 500mg dose. This result correlated with the in vitro study where CYP2C9*19 demonstrated 31% enzyme activity with a tolbutamide substrate compared to wildtype (25614704). Multiple in vitro studies similarly found CYP2C9*19 demonstrated decreased clearance with various substrates compared to wildtype (23752738, 23844998, 24118918, 25142737, 25476996, 25144335, 25951663, 25832633, 25884291, 27163851, 24077631), however, one in vitro study showed CYP2C9*19 had similar activity compared to wildtype with a tolbutamide substrate (16099926). Consensus was not achieved among experts and therefore uncertain function was assigned but experts agreed additional evidence may change the assignment to decreased function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00047686882, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777741	329	CYP2C9	*37	Decreased function	Decreased function	\N	0.5	777740	{24077631,24118918,25142737,25144335,25951663,25476996,25832633,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*37 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*37 demonstrated decreased clearance compared to wildtype with multiple substrates (24077631, 24118918, 25951663, 25476996, 25832633, 25924705, 27163851, 23844998). Although two in vitro studies showed CYP2C9*37 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*3 which definitively has no function, demonstrated increased activity compared to wildtype in these studies (25142737, 25884291). An additional in vitro study showed CYP2C9*37 had similar activity compared to wildtype (25144335), however, the experts did not find this result convincing as the function of CYP2C9*37 demonstrated decreased function toward the majority of substrates. 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": 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
777455	329	CYP2B6	*18	No function	No function	\N	\N	777454	{16272958,16495778,18281305,20517174,21746968,23080225,23344581,25878720,25897175,26655325,30085944,30201214,32238417,34115651,35538637}	Strong	\N	CYP2B6*18 (c. 983T>C, p.I328T) – No function: CYP2B6*18 is assigned no function (note that the formerly assigned CYP2B6*16 allele is now a suballele of CYP2B6*18). Several clinical studies indicate that CYP2B6*18 is strongly associated with higher plasma efavirenz exposure in patients with HIV (18281305, 23080225, 26655325). Studies evaluating efavirenz content in hair samples among patients with HIV taking efavirenz for more than three months found that patients with the CYP2B6*18 allele had nearly double efavirenz exposure compared to the *1 reference (26655325, 34115651). Another study evaluating plasma efavirenz concentrations in patients with HIV found three-fold higher efavirenz concentrations in patients carrying CYP2B6*18 compared to the *1 reference (16495778). Furthermore, CYP2B6*18 is associated with significantly higher exposure of nevirapine in plasma (18281305, 25878720) and hair (34115651) and lower exposure of hydroxybupropion after bupropion administration (23344581). Lower clearance of methadone compared to the *1 reference was found in a CYP2B6*18 carrier (35538637). Several in vitro studies found that CYP2B6*18 exhibited undetectable (or markedly decreased) protein expression and/or activity towards different probe substrates including efavirenz, bupropion, ketamine, and methadone, in several cDNA expression systems (16272958, 16495778, 20517174, 21746968, 25897175, 30085944, 30201214, 32238417, 35538637). Therefore, consensus among experts was no function based on strong evidence.	{"Latino": 0.014610389, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.05768421, "African American/Afro-Caribbean": 0.03296694}	f
777743	329	CYP2C9	*38	Decreased function	Decreased function	\N	0.5	777742	{24077631,24118918,25142737,25144335,25951663,25476996,25832633,25884291,25924705,27163851,28758225,23844998}	Limited	\N	CYP2C9*38 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*38 demonstrated decreased clearance compared to wildtype for multiple substrates (24077631, 24118918, 25144335, 25951663, 25476996, 25832633, 25884291, 25924705, 23844998). Although two in vitro studies showed CYP2C9*38 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 activity and similar activity compared to wildtype in these studies (25142737, 27163851). Additionally, the experts did not deem an in vitro study where CYP2C9*38 demonstrated activity ranging from decreased to increased compared to wildtype with 7-ethoxycoumarin, flavanone, and steroid substrates (28758225) as convincing evidence because it could not be ruled out that these results which differed from the majority of in vitro studies were due to the specific system used in the study. 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
777757	329	CYP2C9	*45	No function	No function	\N	0.0	777756	{24077631,24118918,25144335,25951663,25142737,25476996,25614704,25884291,25832633,25924705,27163851,23844998}	Limited	\N	CYP2C9*45 is assigned no function based on limited evidence in one heterozygous patient and in vitro studies. One subject with CYP2C9*1/*45 genotype exhibited nearly twice the AUC and half the oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). Multiple in vitro studies found CYP2C9*45 demonstrated markedly decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25144335, 25951663, 25476996, 25832633, 25924705, 27163851, 23844998, 25614704). Although two in vitro studies showed CYP2C9*45 had similar or increased activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*3 which definitively has no function, demonstrated increased or similar activity compared to wildtype in these studies (25142737, 25884291). 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": 0.00050, "American": null, "European": 0.00020, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00020, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318600	100	CYP4F2	*15	\N	\N	\N	\N	3318599	\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
110057	115	HLA-B	*58:01	\N	\N	\N	\N	9003	\N	\N	\N	\N	{"Latino": 0.013537052, "American": 0.011914154, "European": 0.0076844515, "Oceanian": 0.014144436, "East Asian": 0.06041846, "Near Eastern": 0.018732347, "Central/South Asian": 0.041933447, "Sub-Saharan African": 0.04351446, "African American/Afro-Caribbean": 0.038205802}	f
777531	329	CYP2C19	*38	\N	Normal function	\N	\N	777530	{2009263,32602114}	Definitve	\N	CYP2C19*38 is assigned normal function based on definitive evidence. CYP2C19*38 was originally catalogued as CYP2C19*1.001 (i.e. CYP2C19*1A) (2009263). Due to the standardized nomenclature system this allele received its own star designation and is now catalogued as CYP2C19*38 (32602114). Therefore, because CYP2C19*38 does not contain any single nucleotide polymorphisms and the new star designation was a result of nomenclature standardization, consensus among experts was normal 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
777263	203	CACNA1S	Reference	\N	Normal function	\N	\N	777262	{}	\N	\N	\N	\N	f
5409120	16	CYP2D6	*176	\N	\N	\N	\N	5409119	\N	\N	\N	\N	\N	f
777265	329	CACNA1S	c.520C>T	Uncertain function	Malignant Hyperthermia associated	\N	\N	777264	{19825159,28259615,22547813}	\N	\N	19825159: positive in vitro contracture test (biopsied muscle strips) (IVCT); 28259615: positive IVCT; 22547813: R174W mutation does not alter the voltage dependence of EC coupling, indicating that this mutation does not shift the equilibrium of RyR1 toward the activated state. R174W mutation alters the resting conformation of CACNA1S such that it no longer suppresses resting calcium leak via RYR1 and R174W mutation also serves to amplify this resting leak. R174W mutation disrupts the ability of CACNA1S to repress resting calcium leak from SR via RYR1 leading t elevated resting myoplasmic calcium and increased sensitivity to MH triggers	{"Latino": 0.00005783, "European": 0.000014776972, "East Asian": 0.0001087, "Near Eastern": 0.0, "Central/South Asian": 0.00003267}	f
777737	329	CYP2C9	*35	No function	No function	\N	0.0	777736	{23752738,24322786,2145143}	Limited	\N	CYP2C9*35 is assigned no function based on limited evidence in one heterozygous subject and in vitro studies. CYP2C9*35 was first described in a patient requiring a very low weekly warfarin dose of 2.25mg (2145143). No variant was observed in VKORC1 or CYP4F2 in this patient and a subsequent in silico study showed a decreased interaction with reductase resulting in impaired enzyme activity. In vitro studies similarly found CYP2C9*35 demonstrated no enzyme activity with warfarin, tolbutamide, and diclofenac substrates (23752738, 24322786). 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": null}	f
777983	325	CYP2D6	*25	\N	Uncertain function	\N	n/a	777982	{24647041,30366777}	Inadequate	\N	CYP2D6*25 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*25 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. 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": null, "African American/Afro-Caribbean": 0.0}	f
778055	325	CYP2D6	*61	\N	Uncertain function	\N	n/a	778054	{24647041,30366777}	Inadequate	\N	CYP2D6*61 is assigned uncertain function due to inadequate evidence. In vitro studies have found CYP2D6*61 demonstrated decreased to no detectable enzyme activity compared to wildtype with various substrates (24647041, 30366777) but consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777310	201	CFTR	2789+5G->A	\N	ivacaftor responsive	\N	\N	777309	{}	\N	ACMG screening panel	\N	\N	f
1103380	231	CYP2D6	*147	\N	Uncertain function	\N	n/a	1103379	{}	Inadequate	\N	CYP2D6*147 is assigned uncertain function due to inadequate evidence. CYP2D6*147 is defined by the insertion of three amino acids found in CYP2D6*30 (for which the function is uncertain) and the 100C>T variant which has been shown to cause severely decreased function of e.g. *10. 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
5998159	6	CYP2D6	*178	\N	\N	\N	\N	5998158	\N	\N	\N	\N	\N	f
5998161	6	CYP2D6	*179	\N	\N	\N	\N	5998160	\N	\N	\N	\N	\N	f
5998163	6	CYP2D6	*180	\N	\N	\N	\N	5998162	\N	\N	\N	\N	\N	f
5998165	6	CYP2D6	*181	\N	\N	\N	\N	5998164	\N	\N	\N	\N	\N	f
5998167	6	CYP2D6	*182	\N	\N	\N	\N	5998166	\N	\N	\N	\N	\N	f
5998169	6	CYP2D6	*183	\N	\N	\N	\N	5998168	\N	\N	\N	\N	\N	f
5998171	6	CYP2D6	*184	\N	\N	\N	\N	5998170	\N	\N	\N	\N	\N	f
5998173	6	CYP2D6	*185	\N	\N	\N	\N	5998172	\N	\N	\N	\N	\N	f
3318602	100	CYP4F2	*16	\N	\N	\N	\N	3318601	\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
778763	281	G6PD	Cairo	II/Deficient	II/Deficient	\N	\N	778762	{22293322,1945893,22770933}	Moderate	\N	WHO Class II assigned based on evidence supporting decreased enzyme activity (less than A-). Additionally, analysis of the clinical presentation of the 11 children with G6PD Cairo revealed that all suffered hemolytic crises due to fava bean consumption and reported varying levels of jaundice at birth. The resulting in a WHO class II assignment (22770933).	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778923	281	G6PD	Calvo Mackenna	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778922	{22293322,7655862}	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
778979	281	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	281	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
778933	281	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
778823	281	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
778803	281	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
778955	281	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
778977	281	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
3827873	102	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
3827883	102	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	102	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
3827919	102	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
3685407	120	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	120	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
3685511	120	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
3685599	120	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
3685657	120	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
3685769	120	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
779294	308	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	307	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
777352	201	CFTR	G551S	\N	ivacaftor responsive	\N	\N	777351	{}	\N	\N	\N	\N	f
777354	201	CFTR	K1060T	\N	ivacaftor responsive	\N	\N	777353	{}	\N	\N	\N	\N	f
777360	201	CFTR	R1070Q	\N	ivacaftor responsive	\N	\N	777359	{}	\N	\N	\N	\N	f
777362	201	CFTR	R1070W	\N	ivacaftor responsive	\N	\N	777361	{}	\N	\N	\N	\N	f
777380	201	CFTR	S549R(A>C)	\N	ivacaftor responsive	\N	\N	777379	{}	\N	\N	\N	\N	f
777312	201	CFTR	3272-26A->G	\N	ivacaftor responsive	\N	\N	777311	{}	\N	\N	\N	\N	f
777314	201	CFTR	3849+10kbC->T	\N	ivacaftor responsive	\N	\N	777313	{}	\N	ACMG screening panel	\N	\N	f
777318	201	CFTR	A1067T	\N	ivacaftor responsive	\N	\N	777317	{}	\N	\N	\N	\N	f
777320	201	CFTR	A455E	\N	ivacaftor responsive	\N	\N	777319	{}	\N	ACMG screening panel	\N	\N	f
777326	201	CFTR	D1152H	\N	ivacaftor responsive	\N	\N	777325	{}	\N	\N	\N	\N	f
777328	201	CFTR	D1270N	\N	ivacaftor responsive	\N	\N	777327	{}	\N	\N	\N	\N	f
777330	201	CFTR	D579G	\N	ivacaftor responsive	\N	\N	777329	{}	\N	\N	\N	\N	f
777336	201	CFTR	E831X	\N	ivacaftor responsive	\N	\N	777335	{}	\N	\N	\N	\N	f
777338	201	CFTR	F1052V	\N	ivacaftor responsive	\N	\N	777337	{}	\N	\N	\N	\N	f
777340	201	CFTR	F1074L	\N	ivacaftor responsive	\N	\N	777339	{}	\N	\N	\N	\N	f
777342	201	CFTR	G1069R	\N	ivacaftor responsive	\N	\N	777341	{}	\N	\N	\N	\N	f
777344	201	CFTR	G1244E	\N	ivacaftor responsive	\N	\N	777343	{}	\N	\N	\N	\N	f
777346	201	CFTR	G1349D	\N	ivacaftor responsive	\N	\N	777345	{}	\N	\N	\N	\N	f
777350	201	CFTR	G551D	\N	ivacaftor responsive	\N	\N	777349	{}	\N	ACMG screening panel	\N	\N	f
777437	329	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
777469	328	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
2899145	118	CYP2B6	*40	Decreased function	Decreased function	\N	\N	2899144	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*40 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1133G>A, p.R378Q) – Decreased function: CYP2B6*40 is assigned decreased function. CYP2B6*40 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). 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). A single in vitro study reported decreased function for p.R378Q using buproprion and efavirez as probes (38596098). 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
2899155	118	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
2899163	118	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
5997309	6	CYP2B6	*50	\N	\N	\N	\N	5997308	\N	\N	\N	\N	\N	f
779097	109	NUDT15	*17	\N	\N	\N	\N	779096	\N	\N	\N	\N	\N	f
777433	329	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
777459	329	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	329	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
777493	329	CYP2B6	*37	Decreased or no function	Decreased function	\N	\N	777492	{23418033,30201214,18171905,24260284}	Limited	\N	CYP2B6*37 (c.516G>T, p.Q172H/splice defect; c.548T>G, p.V183G; c.785A>G, p.K262R) – Decreased function: CYB2B6*37 is assigned decreased function. CYP2B6*37 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information) (23418033). Multiple in vitro studies using cDNA expression systems found that CYP2B6*37 has no enzyme activity with bupropion and efavirenz compared to the *1 reference (23418033, 30201214). However, there was no in vivo data or data for liver microsomes. 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
779103	109	NUDT15	*20	\N	\N	\N	\N	779102	\N	\N	\N	\N	\N	f
777559	329	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
777561	329	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	329	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
5881977	8	NUDT15	*21	\N	\N	\N	\N	5881976	\N	\N	\N	\N	\N	f
777591	329	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
779065	309	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
777557	329	CYP2C19	*13	\N	Normal function	\N	\N	777556	{12464799,21325430,25001882,21692664}	Limited	\N	CYP2C19*13 is assigned normal function based on limited evidence. Three in vitro studies using different cell systems found CYP2C19*13 demonstrated similar enzyme activity compared to wildtype with mephenytoin, omeprazole, clopidogrel and other substrates (12464799, 21325430, 25001882, 21692664). 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": 0.0022364424, "Oceanian": null, "East Asian": 0.00011504832, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.012}	f
777697	329	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
777749	329	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
777787	329	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
777693	329	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	329	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
777675	329	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	329	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
777941	325	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	270	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	99	CYP2D6	*164	\N	\N	\N	\N	2677039	\N	\N	\N	\N	\N	f
777967	325	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	325	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	324	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
777981	325	CYP2D6	*24	\N	Uncertain function	\N	n/a	777980	{18838503,24647041,30366777}	Inadequate	\N	CYP2D6*24 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*24 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (18838503, 24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
2677052	99	CYP2D6	*170	\N	\N	\N	\N	2677051	\N	\N	\N	\N	\N	f
2677042	99	CYP2D6	*165	\N	\N	\N	\N	2677041	\N	\N	\N	\N	\N	f
777993	325	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	271	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	271	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	99	CYP2D6	*166	\N	\N	\N	\N	2677043	\N	\N	\N	\N	\N	f
778017	325	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	270	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
778049	324	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	324	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	99	CYP2D6	*167	\N	\N	\N	\N	2677045	\N	\N	\N	\N	\N	f
778099	325	CYP2D6	*90	\N	Uncertain function	\N	n/a	778098	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*90 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*90 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
778103	325	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	99	CYP2D6	*168	\N	\N	\N	\N	2677047	\N	\N	\N	\N	\N	f
2677050	99	CYP2D6	*169	\N	\N	\N	\N	2677049	\N	\N	\N	\N	\N	f
778125	324	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	73	CYP2D6	*172	\N	\N	\N	\N	3318539	\N	\N	\N	\N	\N	f
5175553	20	CYP2D6	*174	\N	\N	\N	\N	5175552	\N	\N	\N	\N	\N	f
5175555	20	CYP2D6	*175	\N	\N	\N	\N	5175554	\N	\N	\N	\N	\N	f
5763833	10	CYP2D6	*177	\N	\N	\N	\N	5763832	\N	\N	\N	\N	\N	f
778165	324	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	325	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
778205	231	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
777961	325	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	325	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	325	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
778057	325	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
777959	325	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	36	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	325	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	324	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	281	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	281	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	281	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	281	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	281	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	281	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	281	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	281	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	281	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	281	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	281	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	281	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	282	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	102	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	102	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	120	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	120	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	120	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	120	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	120	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	120	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	120	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	308	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	120	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	120	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	120	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	120	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	99	CYP2D6	*151	\N	\N	\N	\N	2677013	\N	\N	\N	\N	\N	f
777685	329	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	120	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	120	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	120	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	308	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	120	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	129	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	129	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	129	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	129	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	100	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	100	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	100	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	100	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	100	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	100	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	100	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	62	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	308	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	120	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	120	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	120	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	307	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	307	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	307	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	301	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	301	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	301	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	290	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	329	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	329	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	109	NUDT15	*16	\N	\N	\N	\N	779094	\N	\N	\N	\N	\N	f
779042	54	IFNL3	rs12979860 reference (C)	\N	\N	\N	\N	779041	\N	\N	\N	\N	\N	t
779044	54	IFNL3	rs12979860 variant (T)	\N	\N	\N	\N	779043	\N	\N	\N	\N	\N	f
777717	329	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
779083	109	NUDT15	*10	\N	\N	\N	\N	779082	\N	\N	\N	\N	\N	f
777727	329	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
778219	322	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
777739	329	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
778223	322	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	321	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	99	CYP2D6	*150	\N	\N	\N	\N	2677011	\N	\N	\N	\N	\N	f
777753	329	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
777751	329	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
777755	329	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	329	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	322	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	321	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	329	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	329	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	329	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	167	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	167	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
778235	321	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
1508725	311	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
779067	309	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
777267	329	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
777308	201	CFTR	ivacaftor non-responsive CFTR sequence	\N	ivacaftor non-responsive	\N	\N	777307	{}	\N	\N	\N	\N	f
777316	201	CFTR	711+3A->G	\N	ivacaftor responsive	\N	\N	777315	{}	\N	ACMG screening panel	\N	\N	f
777322	201	CFTR	D110E	\N	ivacaftor responsive	\N	\N	777321	{}	\N	\N	\N	\N	f
777324	201	CFTR	D110H	\N	ivacaftor responsive	\N	\N	777323	{}	\N	\N	\N	\N	f
777332	201	CFTR	E193K	\N	ivacaftor responsive	\N	\N	777331	{}	\N	\N	\N	\N	f
777334	201	CFTR	E56K	\N	ivacaftor responsive	\N	\N	777333	{}	\N	\N	\N	\N	f
777348	201	CFTR	G178R	\N	ivacaftor responsive	\N	\N	777347	{}	\N	\N	\N	\N	f
777356	201	CFTR	L206W	\N	ivacaftor responsive	\N	\N	777355	{}	\N	\N	\N	\N	f
777358	201	CFTR	P67L	\N	ivacaftor responsive	\N	\N	777357	{}	\N	\N	\N	\N	f
777372	201	CFTR	R74W	\N	ivacaftor responsive	\N	\N	777371	{}	\N	\N	\N	\N	f
1406316	311	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
777807	311	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	311	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
777423	329	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	329	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
779479	109	TPMT	*42	\N	\N	\N	\N	779478	\N	\N	\N	\N	\N	f
777461	329	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
779451	307	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	329	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	329	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
777465	328	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	307	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
777445	329	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
779069	309	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	309	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	329	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	329	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
777533	329	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
777535	329	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	329	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	329	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
779455	307	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
5175551	20	CYP2D6	*173	\N	\N	\N	\N	5175550	\N	\N	\N	\N	\N	f
777601	312	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
1932986	110	CYP2C9	*76	\N	\N	\N	\N	1932985	\N	\N	\N	\N	\N	f
1932988	110	CYP2C9	*77	\N	\N	\N	\N	1932987	\N	\N	\N	\N	\N	f
1932990	110	CYP2C9	*78	\N	\N	\N	\N	1932989	\N	\N	\N	\N	\N	f
1932992	110	CYP2C9	*79	\N	\N	\N	\N	1932991	\N	\N	\N	\N	\N	f
1932998	110	CYP2C9	*82	\N	\N	\N	\N	1932997	\N	\N	\N	\N	\N	f
1932996	110	CYP2C9	*81	\N	\N	\N	\N	1932995	\N	\N	\N	\N	\N	f
777669	328	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
779457	307	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
777681	329	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	329	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
779459	307	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
777781	329	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
777673	329	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	110	CYP2C9	*83	\N	\N	\N	\N	1932999	\N	\N	\N	\N	\N	f
1933002	110	CYP2C9	*84	\N	\N	\N	\N	1933001	\N	\N	\N	\N	\N	f
1933004	110	CYP2C9	*85	\N	\N	\N	\N	1933003	\N	\N	\N	\N	\N	f
779461	307	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	324	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	328	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	120	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	307	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	307	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	120	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	307	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	120	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	231	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	231	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	229	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	229	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	322	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
778328	196	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
778330	322	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	322	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	316	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	316	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	316	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	316	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	316	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
778350	316	DPYD	c.525G>A	Normal function	Normal function	\N	1.0	778349	{23588312}	Limited	\N	5-fluorouracil (ex vivo)	{"Latino": 0.00014510652, "European": 0.0, "East Asian": 0.000081102364, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0019642857, "African American/Afro-Caribbean": 0.0}	f
778352	316	DPYD	c.557A>G	Decreased function	Decreased function	\N	0.5	778351	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.0012139219, "European": 0.00008854784, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.025914682, "African American/Afro-Caribbean": 0.01233121}	f
778354	316	DPYD	c.601A>C	No function	No function	\N	0.0	778353	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00004094045, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778456	310	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	310	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	310	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	310	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	310	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	310	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	310	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	310	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	310	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	310	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	310	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	310	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	310	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	281	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	281	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	281	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	281	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	281	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	196	MT-RNR1	Reference	\N	Normal risk of aminoglycoside-induced hearing loss	\N	\N	828095	{27654872}	\N	\N	27654872: N/A	\N	f
3827893	102	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	102	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	109	NUDT15	*18	\N	\N	\N	\N	779098	\N	\N	\N	\N	\N	f
779101	109	NUDT15	*19	\N	\N	\N	\N	779100	\N	\N	\N	\N	\N	f
3827895	102	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	102	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	102	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	309	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	309	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	309	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	309	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	309	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	307	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	120	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	120	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	120	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	120	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	308	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	120	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	120	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	196	RYR1	Reference	Benign	Normal function	\N	n/a	779148	{}	\N	\N	\N	\N	f
3685629	120	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	120	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	120	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	308	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	120	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	120	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	308	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	120	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	120	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	120	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	308	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	308	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	120	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	120	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	120	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	308	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	120	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	120	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	120	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	120	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	120	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	120	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	308	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	120	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	120	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	120	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	120	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	307	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	308	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	307	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	307	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	307	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	307	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	307	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	307	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	307	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	307	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	307	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	307	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	307	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	307	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	307	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	109	TPMT	*43	\N	\N	\N	\N	779480	\N	\N	\N	\N	\N	f
779483	109	TPMT	*44	\N	\N	\N	\N	779482	\N	\N	\N	\N	\N	f
779471	307	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	307	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	307	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	307	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	308	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	308	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	308	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	307	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	307	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	307	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	307	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	309	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
777442	159	CYP2B6	*11	PV00749	f	f
777444	159	CYP2B6	*12	PV00750	f	f
2091246	103	CYP2D6	*157	PV01947	f	f
2091250	103	CYP2D6	*159	PV01954	f	f
777732	159	CYP2C9	*33	PV00569	f	f
777746	159	CYP2C9	*40	PV00576	f	f
777758	159	CYP2C9	*46	PV00582	f	f
777448	159	CYP2B6	*14	PV00752	f	f
777450	159	CYP2B6	*15	PV00753	f	f
777452	159	CYP2B6	*17	PV00755	f	f
777454	159	CYP2B6	*18	PV00756	f	f
777456	159	CYP2B6	*19	PV00757	f	f
777460	159	CYP2B6	*21	PV00759	f	f
777462	159	CYP2B6	*22	PV00760	f	f
777464	159	CYP2B6	*23	PV00761	f	f
777466	159	CYP2B6	*24	PV00762	f	f
777468	159	CYP2B6	*25	PV00763	f	f
777470	159	CYP2B6	*26	PV00764	f	f
777474	159	CYP2B6	*28	PV00766	f	f
777476	154	CYP2B6	*29	PV00767	f	t
777478	154	CYP2B6	*30	PV00770	f	t
777480	159	CYP2B6	*31	PV00771	f	f
777482	159	CYP2B6	*32	PV00772	f	f
777484	159	CYP2B6	*33	PV00848	f	f
777486	159	CYP2B6	*34	PV00774	f	f
777490	159	CYP2B6	*36	PV00776	f	f
777492	159	CYP2B6	*37	PV00777	f	f
777494	159	CYP2B6	*38	PV00778	f	f
777428	159	CYP2B6	*4	PV00742	f	f
2899154	73	CYP2B6	*45	PV02278	f	f
2899156	73	CYP2B6	*46	PV02280	f	f
2899158	73	CYP2B6	*47	PV02282	f	f
2899162	73	CYP2B6	*49	PV02286	f	f
777430	159	CYP2B6	*5	PV00743	f	f
5997308	6	CYP2B6	*50	PV02841	f	f
777766	159	CYP2C9	*50	PV00586	f	f
777776	159	CYP2C9	*55	PV00591	f	f
777678	159	CYP2C9	*6	PV00542	f	f
777794	159	CYP2C9	*64	PV01419	f	f
777680	159	CYP2C9	*7	PV00543	f	f
777432	159	CYP2B6	*6	PV00744	f	f
1406321	129	CYP2C9	*75	PV01742	f	f
777682	159	CYP2C9	*8	PV00544	f	f
777434	159	CYP2B6	*7	PV00745	f	f
1933003	109	CYP2C9	*85	PV01798	f	f
777436	159	CYP2B6	*8	PV00746	f	f
777958	159	CYP2D6	*12	PV00437	f	f
778178	159	CYP2D6	*130	PV00685	f	f
778180	159	CYP2D6	*131	PV00686	f	f
778182	159	CYP2D6	*132	PV00687	f	f
778184	159	CYP2D6	*133	PV00688	f	f
778186	159	CYP2D6	*134	PV00689	f	f
778188	159	CYP2D6	*135	PV00690	f	f
778190	159	CYP2D6	*136	PV00691	f	f
778192	159	CYP2D6	*137	PV00692	f	f
778196	159	CYP2D6	*139	PV00728	f	f
778200	159	CYP2D6	*141	PV02389	f	f
778202	159	CYP2D6	*142	PV01434	f	f
778204	159	CYP2D6	*143	PV01435	f	f
778206	159	CYP2D6	*144	PV01436	f	f
778208	159	CYP2D6	*145	PV01437	f	f
1103377	141	CYP2D6	*146	PV01717	f	f
777438	159	CYP2B6	*9	PV00747	f	f
777578	159	CYP2C19	*26	PV00621	f	f
777580	159	CYP2C19	*28	PV00622	f	f
777333	90	CFTR	E56K	\N	f	f
777357	90	CFTR	P67L	\N	f	f
1103379	141	CYP2D6	*147	PV01805	f	f
1609527	122	CYP2D6	*148	PV01745	f	f
1103381	141	CYP2D6	*149	PV01730	f	f
2677011	81	CYP2D6	*150	PV02524	f	f
2677013	81	CYP2D6	*151	PV02194	f	f
2091236	103	CYP2D6	*152	PV02155	f	f
2091238	103	CYP2D6	*153	PV02157	f	f
2091242	103	CYP2D6	*155	PV01936	f	f
2091244	103	CYP2D6	*156	PV01943	f	f
777440	159	CYP2B6	*10	PV00748	f	f
777592	159	CYP2C19	*34	PV02143	f	f
6235063	2	CYP2C19	*40	PV02894	f	f
6235065	2	CYP2C19	*41	PV02896	f	f
777690	159	CYP2C9	*12	PV00548	f	f
777704	159	CYP2C9	*19	PV00555	f	f
777716	159	CYP2C9	*25	PV00561	f	f
778040	159	CYP2D6	*54	PV00478	f	f
2677047	81	CYP2D6	*168	PV02161	f	f
777530	159	CYP2C19	*38	PV02145	t	f
2677039	81	CYP2D6	*164	PV02199	f	f
2677043	81	CYP2D6	*166	PV02203	f	f
2677045	81	CYP2D6	*167	PV02159	f	f
2677049	81	CYP2D6	*169	PV02163	f	f
2677051	81	CYP2D6	*170	PV02165	f	f
2677053	81	CYP2D6	*171	PV02189	f	f
3318539	58	CYP2D6	*172	PV02301	f	f
5175550	20	CYP2D6	*173	PV02498	f	f
778060	159	CYP2D6	*64	PV00488	f	f
778076	159	CYP2D6	*74	PV00496	f	f
778088	159	CYP2D6	*85	PV00502	f	f
3318593	58	CYP4F2	*12	PV02322	f	f
778020	159	CYP2D6	*44	PV00468	f	f
778022	159	CYP2D6	*45	PV00469	f	f
778024	159	CYP2D6	*46	PV00470	f	f
778026	159	CYP2D6	*47	PV00471	f	f
778028	159	CYP2D6	*48	PV00472	f	f
778030	159	CYP2D6	*49	PV00473	f	f
778032	159	CYP2D6	*50	PV00474	f	f
778034	159	CYP2D6	*51	PV00475	f	f
778052	159	CYP2D6	*60	PV00484	f	f
778036	159	CYP2D6	*52	PV00476	f	f
778038	159	CYP2D6	*53	PV00477	f	f
778056	159	CYP2D6	*62	PV00486	f	f
778042	159	CYP2D6	*55	PV00479	f	f
778044	159	CYP2D6	*56	PV00480	f	f
778048	159	CYP2D6	*58	PV00482	f	f
778050	159	CYP2D6	*59	PV00483	f	f
777946	159	CYP2D6	*6	PV00431	f	f
778054	154	CYP2D6	*61	PV00485	f	t
778068	159	CYP2D6	*70	PV00492	f	f
778058	154	CYP2D6	*63	PV00487	f	t
778072	159	CYP2D6	*72	PV00494	f	f
778062	159	CYP2D6	*65	PV00489	f	f
778064	154	CYP2D6	*68	PV00490	f	t
778066	159	CYP2D6	*69	PV00491	f	f
777948	159	CYP2D6	*7	PV00432	f	f
778070	159	CYP2D6	*71	PV00493	f	f
778080	159	CYP2D6	*81	PV00498	f	f
778074	159	CYP2D6	*73	PV00495	f	f
778084	159	CYP2D6	*83	PV02385	f	f
778078	159	CYP2D6	*75	PV00497	f	f
777950	159	CYP2D6	*8	PV00433	f	f
778082	159	CYP2D6	*82	PV00499	f	f
778108	159	CYP2D6	*95	PV00512	f	f
778086	159	CYP2D6	*84	PV00501	f	f
778114	159	CYP2D6	*98	PV00515	f	f
778090	159	CYP2D6	*86	PV00503	f	f
778092	159	CYP2D6	*87	PV00504	f	f
778094	159	CYP2D6	*88	PV00505	f	f
778096	159	CYP2D6	*89	PV00506	f	f
777952	159	CYP2D6	*9	PV00434	f	f
778112	159	CYP2D6	*97	PV00514	f	f
777978	159	CYP2D6	*23	PV00447	f	f
778116	159	CYP2D6	*99	PV00516	f	f
778016	159	CYP2D6	*42	PV02297	f	f
5175552	20	CYP2D6	*174	PV02500	f	f
3318599	58	CYP4F2	*15	PV02328	f	f
5175554	20	CYP2D6	*175	PV02502	f	f
4058604	35	CYP4F2	*17	PV02391	f	f
778240	158	CYP4F2	*2	PV02213	f	f
5409119	16	CYP2D6	*176	PV02519	f	f
5763832	10	CYP2D6	*177	PV02522	f	f
5998158	6	CYP2D6	*178	PV02809	f	f
5998160	6	CYP2D6	*179	PV02811	f	f
5998162	6	CYP2D6	*180	PV02813	f	f
5998164	6	CYP2D6	*181	PV02815	f	f
5998166	6	CYP2D6	*182	PV02817	f	f
5998168	6	CYP2D6	*183	PV02819	f	f
5998170	6	CYP2D6	*184	PV02821	f	f
5998172	6	CYP2D6	*185	PV02823	f	f
777970	159	CYP2D6	*19	PV02196	f	f
777988	159	CYP2D6	*28	PV00452	f	f
778014	159	CYP2D6	*41	PV00465	f	f
778018	159	CYP2D6	*43	PV00467	f	f
778242	158	CYP4F2	*3	PV02214	f	f
3318595	58	CYP4F2	*13	PV02324	f	f
3318601	58	CYP4F2	*16	PV02312	f	t
3318585	58	CYP4F2	*8	PV02314	f	f
3318587	58	CYP4F2	*9	PV02316	f	f
779080	158	NUDT15	*9	PV01605	f	f
2784572	77	CYP4F2	*4	PV02221	f	f
779297	152	SLCO1B1	*11	PV01628	f	f
2784576	77	CYP4F2	*6	PV02225	f	f
779301	152	SLCO1B1	*13	PV01630	f	f
779339	152	SLCO1B1	*32	PV01645	f	f
1002623	143	SLCO1B1	*1	PV01618	t	f
2784578	77	CYP4F2	*7	PV02227	f	f
779315	152	SLCO1B1	*20	PV01635	f	f
779299	152	SLCO1B1	*12	PV01629	f	f
779307	152	SLCO1B1	*16	PV01633	f	f
779279	152	SLCO1B1	*2	PV01619	f	f
779323	152	SLCO1B1	*24	PV01637	f	f
779335	152	SLCO1B1	*30	PV01643	f	f
779327	152	SLCO1B1	*26	PV01639	f	f
1002685	143	SLCO1B1	*37	PV01649	f	f
6235320	2	CYP2C9	*86	PV02929	f	f
779333	152	SLCO1B1	*29	PV01642	f	f
779281	152	SLCO1B1	*3	PV01620	f	f
1002701	143	SLCO1B1	*45	PV01657	f	f
779343	152	SLCO1B1	*34	PV01647	f	f
779347	152	SLCO1B1	*36	PV01648	f	f
1002693	143	SLCO1B1	*41	PV01653	f	f
1002687	143	SLCO1B1	*38	PV01650	f	f
779283	152	SLCO1B1	*4	PV01621	f	f
1002695	143	SLCO1B1	*42	PV01654	f	f
779303	152	SLCO1B1	*14	PV01631	f	f
1002697	143	SLCO1B1	*43	PV01655	f	f
1002703	143	SLCO1B1	*46	PV01658	f	f
779305	152	SLCO1B1	*15	PV01632	f	f
1357091	131	SLCO1B1	*48	PV01732	f	t
6235322	2	CYP2C9	*87	PV02931	f	f
6235324	2	CYP2C9	*88	PV02933	f	f
2091252	103	CYP2D6	*160	PV01958	f	f
779321	152	SLCO1B1	*23	PV01636	f	f
2091254	103	CYP2D6	*161	PV01963	f	f
779325	152	SLCO1B1	*25	PV01638	f	f
779331	152	SLCO1B1	*28	PV01641	f	f
779337	152	SLCO1B1	*31	PV01644	f	f
1002689	143	SLCO1B1	*39	PV01651	f	f
777532	159	CYP2C19	*1	PV00598	f	f
2091256	103	CYP2D6	*162	PV01967	f	f
2091258	103	CYP2D6	*163	PV01969	f	f
3685906	29	RYR1	c.14209C>T	\N	f	f
3685908	29	RYR1	c.14210G>A	\N	f	f
3685960	29	RYR1	c.14782A>G	\N	f	f
3685962	29	RYR1	c.14803G>A	\N	f	f
3685964	29	RYR1	c.14813T>C	\N	f	f
3685966	29	RYR1	c.14814C>G	\N	f	f
3685968	29	RYR1	c.14817C>A	\N	f	f
3685970	29	RYR1	c.14818G>A	\N	f	f
3685972	29	RYR1	c.14825G>T	\N	f	f
3685974	29	RYR1	c.14879T>A	\N	f	f
3685976	29	RYR1	c.14918C>T	\N	f	f
3685978	29	RYR1	c.14968A>G	\N	f	f
3685980	29	RYR1	c.15059G>C	\N	f	f
777534	159	CYP2C19	*2	PV00599	f	f
777570	159	CYP2C19	*22	PV00617	f	f
777572	159	CYP2C19	*23	PV00618	f	f
777574	159	CYP2C19	*24	PV00619	f	f
777576	159	CYP2C19	*25	PV00620	f	f
777536	159	CYP2C19	*3	PV00600	f	f
777594	159	CYP2C19	*35	PV00629	f	f
777598	154	CYP2C19	*37	PV00732	f	t
777600	159	CYP2C19	*39	PV01528	f	f
778337	90	DPYD	c.295_298delTCAT (*7)	\N	f	f
778435	90	DPYD	c.1905C>G	\N	f	f
778453	90	DPYD	c.2279C>T	\N	f	f
778485	90	DPYD	c.2983G>T (*10)	\N	f	f
778954	90	G6PD	Puerto Limon	\N	f	f
777538	159	CYP2C19	*4	PV00601	f	f
778990	90	G6PD	Santiago de Cuba, Morioka	\N	f	f
777540	159	CYP2C19	*5	PV02131	f	f
777542	159	CYP2C19	*6	PV00603	f	f
777544	159	CYP2C19	*7	PV02134	f	f
777548	159	CYP2C19	*9	PV00606	f	f
777944	154	CYP2D6	*5	PV00430	f	t
1357093	131	SLCO1B1	*49	PV01734	f	t
779285	152	SLCO1B1	*5	PV01622	f	f
779287	152	SLCO1B1	*6	PV01623	f	f
779289	152	SLCO1B1	*7	PV01624	f	f
779291	152	SLCO1B1	*8	PV01625	f	f
779293	152	SLCO1B1	*9	PV01626	f	f
778780	92	G6PD	Taipei, Chinese-3	\N	f	f
778872	90	G6PD	West Virginia	\N	f	f
779041	90	IFNL3	rs12979860 reference (C)	\N	t	f
779043	90	IFNL3	rs12979860 variant (T)	\N	f	f
3685874	29	RYR1	c.13673G>A	\N	f	f
3685876	29	RYR1	c.13672C>T	\N	f	f
3685878	29	RYR1	c.13702C>G	\N	f	f
3685880	29	RYR1	c.13760C>T	\N	f	f
3685882	29	RYR1	c.13913G>A	\N	f	f
3685886	29	RYR1	c.13934G>A	\N	f	f
3685888	29	RYR1	c.13990T>C	\N	f	f
3685890	29	RYR1	c.13994_13995delTCinsCT	\N	f	f
3685892	29	RYR1	c.14002C>T	\N	f	f
3685894	29	RYR1	c.14051T>C	\N	f	f
3685896	29	RYR1	c.14126C>T	\N	f	f
3685898	29	RYR1	c.14168G>A	\N	f	f
3685900	29	RYR1	c.14186A>C	\N	f	f
3685910	29	RYR1	c.14270G>A	\N	f	f
779232	90	RYR1	c.14387A>G	\N	f	f
3685916	29	RYR1	c.14424C>A	\N	f	f
3685918	29	RYR1	c.14449A>T	\N	f	f
3685920	29	RYR1	c.14458G>A	\N	f	f
3685922	29	RYR1	c.14458G>T	\N	f	f
3685924	29	RYR1	c.14471T>C	\N	f	f
779234	90	RYR1	c.14477C>T	\N	f	f
779236	90	RYR1	c.14497C>T	\N	f	f
3685930	29	RYR1	c.14510delA	\N	f	f
3685932	29	RYR1	c.14509C>G	\N	f	f
779238	90	RYR1	c.14512C>G	\N	f	f
3685936	29	RYR1	c.14524G>A	\N	f	f
3685938	29	RYR1	c.14539G>C	\N	f	f
779240	90	RYR1	c.14545G>A	\N	f	f
3685942	29	RYR1	c.14558C>T	\N	f	f
3685944	29	RYR1	c.14567C>G	\N	f	f
779242	90	RYR1	c.14582G>A	\N	f	f
3685948	29	RYR1	c.14581C>T	\N	f	f
3685950	29	RYR1	c.14627A>G	\N	f	f
3685952	29	RYR1	c.14639T>C	\N	f	f
3685954	29	RYR1	c.14678G>A	\N	f	f
3685956	29	RYR1	c.14680G>A	\N	f	f
777550	159	CYP2C19	*10	PV00607	f	f
777552	159	CYP2C19	*11	PV00608	f	f
777554	159	CYP2C19	*12	PV00609	f	f
777556	159	CYP2C19	*13	PV00610	f	f
3685902	29	RYR1	c.14197T>G	\N	f	f
3685904	29	RYR1	c.14201G>A	\N	f	f
779244	90	RYR1	c.14693T>C	\N	f	f
777558	159	CYP2C19	*14	PV00611	f	f
777560	159	CYP2C19	*15	PV00612	f	f
777562	159	CYP2C19	*16	PV02139	f	f
777564	159	CYP2C19	*17	PV00614	f	f
777566	159	CYP2C19	*18	PV00615	f	f
777568	159	CYP2C19	*19	PV00616	f	f
777730	159	CYP2C9	*32	PV00568	f	f
777734	159	CYP2C9	*34	PV00570	f	f
777738	159	CYP2C9	*36	PV00572	f	f
777740	159	CYP2C9	*37	PV00573	f	f
777742	159	CYP2C9	*38	PV00574	f	f
777744	159	CYP2C9	*39	PV00575	f	f
778483	90	DPYD	c.2977C>T	\N	f	f
778714	90	G6PD	202G>A_376A>G_1264C>G	\N	f	f
778752	90	G6PD	A	\N	f	f
778712	90	G6PD	A- 202A_376G	\N	f	f
778742	90	G6PD	Acrokorinthos	\N	f	f
779002	90	G6PD	Andalus	\N	f	f
777748	159	CYP2C9	*41	PV00577	f	f
1932985	109	CYP2C9	*76	PV01780	f	f
1932987	109	CYP2C9	*77	PV01782	f	f
1932989	109	CYP2C9	*78	PV01784	f	f
1932991	109	CYP2C9	*79	PV01786	f	f
1932993	109	CYP2C9	*80	PV01788	f	f
1932997	109	CYP2C9	*82	PV01792	f	f
1932999	109	CYP2C9	*83	PV01794	f	f
1933001	109	CYP2C9	*84	PV01796	f	f
777684	159	CYP2C9	*9	PV00545	f	f
777994	159	CYP2D6	*31	PV00455	f	f
6235905	2	CYP4F2	*18	PV02945	f	f
6235907	2	CYP4F2	*19	PV02947	f	f
6235909	2	CYP4F2	*20	PV02949	f	f
6235911	2	CYP4F2	*21	PV02951	f	f
778826	90	G6PD	Asahikawa	\N	f	f
778938	90	G6PD	Beverly Hills, Genova, Iwate, Niigata, Yamaguchi	\N	f	f
779038	90	G6PD	Brighton	\N	f	f
6235913	2	CYP4F2	*22	PV02953	f	f
6235915	2	CYP4F2	*23	PV02955	f	f
777750	159	CYP2C9	*42	PV00578	f	f
777752	159	CYP2C9	*43	PV00579	f	f
777756	159	CYP2C9	*45	PV00581	f	f
777760	159	CYP2C9	*47	PV00583	f	f
777762	159	CYP2C9	*48	PV00584	f	f
777764	159	CYP2C9	*49	PV00585	f	f
778774	90	G6PD	Gond	\N	f	f
778906	90	G6PD	Ierapetra	\N	f	f
777676	159	CYP2C9	*5	PV00541	f	f
777768	159	CYP2C9	*51	PV00587	f	f
777770	159	CYP2C9	*52	PV00588	f	f
777772	159	CYP2C9	*53	PV00589	f	f
777774	159	CYP2C9	*54	PV00590	f	f
778724	90	G6PD	Lagosanto	\N	f	f
778800	91	G6PD	Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham	\N	f	f
778802	90	G6PD	Pedoplis-Ckaro	\N	f	f
778744	90	G6PD	Santa Maria	\N	f	f
3685694	29	RYR1	c.7771C>T	\N	f	f
3685726	29	RYR1	c.8518C>T	\N	f	f
777778	159	CYP2C9	*56	PV00592	f	f
777780	159	CYP2C9	*57	PV00593	f	f
777782	159	CYP2C9	*58	PV00594	f	f
777784	159	CYP2C9	*59	PV00595	f	f
777786	159	CYP2C9	*60	PV00596	f	f
777788	159	CYP2C9	*61	PV00597	f	f
777790	159	CYP2C9	*62	PV00851	f	f
777792	159	CYP2C9	*63	PV01418	f	f
777796	159	CYP2C9	*65	PV01420	f	f
777798	159	CYP2C9	*66	PV01421	f	f
777800	159	CYP2C9	*67	PV01422	f	f
3685758	29	RYR1	c.9758T>C	\N	f	f
3685790	29	RYR1	c.10891G>T	\N	f	f
3685822	29	RYR1	c.11953T>C	\N	f	f
777802	159	CYP2C9	*68	PV01423	f	f
777804	159	CYP2C9	*69	PV01424	f	f
777806	159	CYP2C9	*70	PV01425	f	f
1406315	129	CYP2C9	*72	PV01736	f	f
1406317	129	CYP2C9	*73	PV01738	f	f
1406319	129	CYP2C9	*74	PV01803	f	f
3685856	29	RYR1	c.12553G>A	\N	f	f
777686	159	CYP2C9	*10	PV00546	f	f
777692	159	CYP2C9	*13	PV00549	f	f
777694	159	CYP2C9	*14	PV00550	f	f
777698	159	CYP2C9	*16	PV00552	f	f
777700	159	CYP2C9	*17	PV00553	f	f
777702	159	CYP2C9	*18	PV00554	f	f
777670	159	CYP2C9	*2	PV00538	f	f
777706	159	CYP2C9	*20	PV00556	f	f
777712	159	CYP2C9	*23	PV00559	f	f
777714	159	CYP2C9	*24	PV00560	f	f
777720	159	CYP2C9	*27	PV00563	f	f
777722	159	CYP2C9	*28	PV00564	f	f
777724	159	CYP2C9	*29	PV00565	f	f
777672	159	CYP2C9	*3	PV00539	f	f
777726	159	CYP2C9	*30	PV00566	f	f
777728	159	CYP2C9	*31	PV00567	f	f
777472	159	CYP2B6	*27	PV00765	f	f
2899142	73	CYP2B6	*39	PV02266	f	f
2899146	73	CYP2B6	*41	PV02270	f	f
2899148	73	CYP2B6	*42	PV02272	f	f
2899150	73	CYP2B6	*43	PV02274	f	f
2899152	73	CYP2B6	*44	PV02276	f	f
777936	159	CYP2D6	*1	PV00426	t	f
777954	159	CYP2D6	*10	PV00435	f	f
778118	159	CYP2D6	*100	PV00517	f	f
778120	159	CYP2D6	*101	PV00518	f	f
778122	159	CYP2D6	*102	PV00519	f	f
778124	159	CYP2D6	*103	PV00520	f	f
778126	159	CYP2D6	*104	PV00521	f	f
778128	159	CYP2D6	*105	PV00522	f	f
778130	159	CYP2D6	*106	PV00523	f	f
778132	159	CYP2D6	*107	PV00524	f	f
778136	159	CYP2D6	*109	PV00526	f	f
777956	159	CYP2D6	*11	PV00436	f	f
778138	159	CYP2D6	*110	PV00527	f	f
778140	159	CYP2D6	*111	PV00528	f	f
778142	159	CYP2D6	*112	PV00529	f	f
778144	159	CYP2D6	*113	PV00530	f	f
777962	159	CYP2D6	*14	PV00439	f	f
777964	159	CYP2D6	*15	PV00440	f	f
777966	159	CYP2D6	*17	PV00441	f	f
777968	159	CYP2D6	*18	PV01591	f	f
777938	159	CYP2D6	*2	PV00427	f	f
777972	159	CYP2D6	*20	PV01749	f	f
777974	159	CYP2D6	*21	PV02825	f	f
777976	159	CYP2D6	*22	PV00446	f	f
777980	159	CYP2D6	*24	PV00448	f	f
777982	159	CYP2D6	*25	PV00449	f	f
777984	159	CYP2D6	*26	PV00450	f	f
777986	159	CYP2D6	*27	PV00451	f	f
777990	159	CYP2D6	*29	PV00453	f	f
777940	159	CYP2D6	*3	PV00428	f	f
777992	159	CYP2D6	*30	PV00454	f	f
777996	159	CYP2D6	*32	PV00456	f	f
777998	159	CYP2D6	*33	PV00457	f	f
778000	159	CYP2D6	*34	PV00458	f	f
778002	159	CYP2D6	*35	PV00459	f	f
778004	159	CYP2D6	*36	PV02379	f	f
778006	159	CYP2D6	*37	PV00461	f	f
778008	159	CYP2D6	*38	PV01592	f	f
778010	159	CYP2D6	*39	PV00463	f	f
777942	159	CYP2D6	*4	PV00429	f	f
778012	159	CYP2D6	*40	PV00464	f	f
6237969	2	SLCO1B1	*50	PV02969	f	f
6237971	2	SLCO1B1	*51	PV02971	f	f
6237973	2	SLCO1B1	*52	PV02973	f	f
6237975	2	SLCO1B1	*53	PV02975	f	f
6237977	2	SLCO1B1	*54	PV02977	f	f
777379	90	CFTR	S549R(A>C)	\N	f	f
777339	90	CFTR	F1074L	\N	f	f
778160	159	CYP2D6	*121	PV00631	f	f
778162	159	CYP2D6	*122	PV00632	f	f
779412	90	TPMT	*9	\N	f	f
779414	90	TPMT	*10	\N	f	f
779416	90	TPMT	*11	\N	f	f
779418	90	TPMT	*12	\N	f	f
779420	90	TPMT	*13	\N	f	f
3827884	23	MT-RNR1	m.827A>G	\N	f	f
3827886	23	MT-RNR1	m.839A>G	\N	f	f
3827888	23	MT-RNR1	m.896A>G	\N	f	f
3827890	23	MT-RNR1	m.930A>G	\N	f	f
778164	159	CYP2D6	*123	PV00633	f	f
778166	159	CYP2D6	*124	PV00634	f	f
778168	159	CYP2D6	*125	PV00681	f	f
778170	159	CYP2D6	*126	PV00682	f	f
778172	159	CYP2D6	*127	PV00635	f	f
3827892	23	MT-RNR1	m.951G>A	\N	f	f
3827894	23	MT-RNR1	m.960C>del	\N	f	f
3827896	23	MT-RNR1	m.961T>G	\N	f	f
3827898	23	MT-RNR1	m.961T>del	\N	f	f
3827900	23	MT-RNR1	m.961T>del+Cn	\N	f	f
3827902	23	MT-RNR1	m.988G>A	\N	f	f
3827904	23	MT-RNR1	m.1095T>C	\N	f	f
3827906	23	MT-RNR1	m.1189T>C	\N	f	f
3827908	23	MT-RNR1	m.1243T>C	\N	f	f
3827910	23	MT-RNR1	m.1494C>T	\N	f	f
3827912	23	MT-RNR1	m.1520T>C	\N	f	f
3827914	23	MT-RNR1	m.1537C>T	\N	f	f
3827916	23	MT-RNR1	m.1555A>G	\N	f	f
3827918	23	MT-RNR1	m.1556C>T	\N	f	f
3685982	29	RYR1	c.15060G>C	\N	f	f
3685984	29	RYR1	c.14364+1G>T	\N	f	f
779422	90	TPMT	*14	\N	f	f
779424	90	TPMT	*15	\N	f	f
779426	90	TPMT	*16	\N	f	f
779428	90	TPMT	*17	\N	f	f
779430	90	TPMT	*18	\N	f	f
779432	90	TPMT	*19	\N	f	f
779434	90	TPMT	*20	\N	f	f
779436	90	TPMT	*21	\N	f	f
779438	90	TPMT	*22	\N	f	f
779440	90	TPMT	*23	\N	f	f
779442	90	TPMT	*24	\N	f	f
779444	90	TPMT	*25	\N	f	f
6238518	1	CYP2D6	*68+*4	\N	f	f
778174	159	CYP2D6	*128	PV01408	f	f
778176	159	CYP2D6	*129	PV00684	f	f
778098	159	CYP2D6	*90	PV00507	f	f
3318597	58	CYP4F2	*14	PV02326	f	f
2784574	77	CYP4F2	*5	PV02223	f	f
779295	152	SLCO1B1	*10	PV01627	f	f
779313	152	SLCO1B1	*19	PV01634	f	f
779329	152	SLCO1B1	*27	PV01640	f	f
779341	152	SLCO1B1	*33	PV01646	f	f
1002691	143	SLCO1B1	*40	PV01652	f	f
1002705	143	SLCO1B1	*47	PV01659	f	f
779392	90	TPMT	*1	\N	t	f
779394	90	TPMT	*2	\N	f	f
779396	90	TPMT	*3A	\N	f	f
779398	90	TPMT	*3B	\N	f	f
779400	90	TPMT	*3C	\N	f	f
779402	90	TPMT	*4	\N	f	f
6238520	1	CYP2D6	*36+*10	\N	f	f
6238522	1	CYP2D6	*13+*1	\N	f	f
6238525	1	CYP2D6	*13+*2	\N	f	f
6238527	1	CYP2D6	*13+*68x2+*4	\N	f	f
6238529	1	CYP2D6	*36x2+*10	\N	f	f
6238532	1	CYP2D6	*68+*2	\N	f	f
777446	159	CYP2B6	*13	PV00751	f	f
777458	159	CYP2B6	*20	PV00758	f	f
777488	159	CYP2B6	*35	PV00775	f	f
777546	159	CYP2C19	*8	PV02136	f	f
777688	159	CYP2C9	*11	PV00547	f	f
777696	159	CYP2C9	*15	PV00551	f	f
777710	159	CYP2C9	*22	PV00558	f	f
777674	159	CYP2C9	*4	PV00540	f	f
779404	90	TPMT	*5	\N	f	f
779406	90	TPMT	*6	\N	f	f
828095	89	MT-RNR1	Reference	\N	t	f
3827872	23	MT-RNR1	m.663A>G	\N	f	f
3827874	23	MT-RNR1	m.669T>C	\N	f	f
3827876	23	MT-RNR1	m.747A>G	\N	f	f
3827878	23	MT-RNR1	m.786G>A	\N	f	f
3827880	23	MT-RNR1	m.807A>C	\N	f	f
3827882	23	MT-RNR1	m.807A>G	\N	f	f
778146	159	CYP2D6	*114	PV00531	f	f
778148	159	CYP2D6	*115	PV00532	f	f
778150	159	CYP2D6	*116	PV00533	f	f
778152	159	CYP2D6	*117	PV00534	f	f
777262	90	CACNA1S	Reference	\N	t	f
777266	90	CACNA1S	c.3257G>A	\N	f	f
777307	90	CFTR	ivacaftor non-responsive CFTR sequence	\N	t	f
779408	90	TPMT	*7	\N	f	f
779410	90	TPMT	*8	\N	f	f
778156	159	CYP2D6	*119	PV00536	f	f
779160	90	RYR1	c.742G>A	\N	f	f
3685398	29	RYR1	c.1144C>A	\N	f	f
3685428	29	RYR1	c.1565A>G	\N	f	f
3685458	29	RYR1	c.2537C>T	\N	f	f
3685488	29	RYR1	c.4024A>G	\N	f	f
779498	90	UGT1A1	*37	\N	f	f
779500	90	UGT1A1	*80	\N	f	f
779502	90	UGT1A1	*80+*28	\N	f	f
779504	90	UGT1A1	*80+*37	\N	f	f
779507	90	VKORC1	rs9923231 reference (C)	\N	t	f
3685520	29	RYR1	c.5440A>G	\N	f	f
779509	90	VKORC1	rs9923231 variant (T)	\N	f	f
778218	159	CYP3A5	*1	PV01323	t	f
3685550	29	RYR1	c.6488G>T	\N	f	f
3685580	29	RYR1	c.6743G>A	\N	f	f
779202	90	RYR1	c.7063C>T	\N	f	f
779206	90	RYR1	c.7282G>A	\N	f	f
3685646	29	RYR1	c.7292A>T	\N	f	f
779220	90	RYR1	c.7373G>A	\N	f	f
1508724	71	ABCG2	rs2231142 reference (G)	\N	t	f
778222	159	CYP3A5	*3	PV01325	f	f
778230	159	CYP3A5	*7	PV01329	f	f
778232	159	CYP3A5	*8	PV01330	f	f
778234	159	CYP3A5	*9	PV01331	f	f
779064	158	NUDT15	*1	PV01597	t	f
779082	158	NUDT15	*10	PV01606	f	f
779084	158	NUDT15	*11	PV01607	f	f
779086	158	NUDT15	*12	PV01608	f	f
779088	158	NUDT15	*13	PV01609	f	f
779090	158	NUDT15	*14	PV01610	f	f
779092	158	NUDT15	*15	PV01611	f	f
779094	158	NUDT15	*16	PV01612	f	f
779096	158	NUDT15	*17	PV01613	f	f
779098	158	NUDT15	*18	PV01614	f	f
779100	158	NUDT15	*19	PV01615	f	f
779066	158	NUDT15	*2	PV01598	f	f
779102	158	NUDT15	*20	PV01616	f	f
5881976	8	NUDT15	*21	PV02804	f	f
3685704	29	RYR1	c.7879G>C	\N	f	f
3685734	29	RYR1	c.8654C>G	\N	f	f
3685764	29	RYR1	c.9850T>A	\N	f	f
3685794	29	RYR1	c.11120G>T	\N	f	f
3685824	29	RYR1	c.11958C>G	\N	f	f
3685854	29	RYR1	c.12533G>T	\N	f	f
3685884	29	RYR1	c.13918A>G	\N	f	f
3685914	29	RYR1	c.14422_14423delinsAA	\N	f	f
779446	90	TPMT	*26	\N	f	f
779448	90	TPMT	*27	\N	f	f
779450	90	TPMT	*28	\N	f	f
779452	90	TPMT	*29	\N	f	f
779454	90	TPMT	*30	\N	f	f
779456	90	TPMT	*31	\N	f	f
779458	90	TPMT	*32	\N	f	f
779460	90	TPMT	*33	\N	f	f
779462	90	TPMT	*34	\N	f	f
779464	90	TPMT	*35	\N	f	f
779466	90	TPMT	*36	\N	f	f
779468	90	TPMT	*37	\N	f	f
779470	90	TPMT	*38	\N	f	f
779472	90	TPMT	*39	\N	f	f
779474	90	TPMT	*40	\N	f	f
779476	90	TPMT	*41	\N	f	f
779068	158	NUDT15	*3	PV01599	f	f
779070	158	NUDT15	*4	PV01600	f	f
779072	158	NUDT15	*5	PV01601	f	f
779074	158	NUDT15	*6	PV01602	f	f
779076	158	NUDT15	*7	PV01603	f	f
779478	90	TPMT	*42	\N	f	f
779078	158	NUDT15	*8	PV01604	f	f
1002699	143	SLCO1B1	*44	PV01656	f	f
779480	90	TPMT	*43	\N	f	f
779482	90	TPMT	*44	\N	f	f
779488	90	UGT1A1	*1	\N	t	f
779490	90	UGT1A1	*6	\N	f	f
779492	90	UGT1A1	*27	\N	f	f
779494	90	UGT1A1	*28	\N	f	f
779496	90	UGT1A1	*36	\N	f	f
3685308	29	RYR1	c.38T>G	\N	f	f
779148	90	RYR1	Reference	\N	t	f
3318589	58	CYP4F2	*10	PV02318	f	f
3685310	29	RYR1	c.51_53del	\N	f	f
3685312	29	RYR1	c.97A>G	\N	f	f
778228	159	CYP3A5	*6	PV01328	f	f
779150	90	RYR1	c.103T>C	\N	f	f
3685316	29	RYR1	c.119G>C	\N	f	f
779152	90	RYR1	c.130C>T	\N	f	f
3685320	29	RYR1	c.131G>A	\N	f	f
3685322	29	RYR1	c.152C>A	\N	f	f
3685324	29	RYR1	c.178G>A	\N	f	f
3685326	29	RYR1	c.178G>T	\N	f	f
3685328	29	RYR1	c.190T>C	\N	f	f
3685330	29	RYR1	c.212C>A	\N	f	f
3685332	29	RYR1	c.251C>T	\N	f	f
3685334	29	RYR1	c.418G>A	\N	f	f
3685336	29	RYR1	c.455C>A	\N	f	f
3685338	29	RYR1	c.463C>A	\N	f	f
3685340	29	RYR1	c.467G>A	\N	f	f
3685342	29	RYR1	c.479A>G	\N	f	f
779154	90	RYR1	c.487C>T	\N	f	f
3685524	29	RYR1	c.5890C>T	\N	f	f
779156	90	RYR1	c.488G>T	\N	f	f
3685348	29	RYR1	c.488G>A	\N	f	f
3685350	29	RYR1	c.493G>A	\N	f	f
3685352	29	RYR1	c.496G>A	\N	f	f
3685354	29	RYR1	c.497A>G	\N	f	f
3685356	29	RYR1	c.526G>A	\N	f	f
3685358	29	RYR1	c.528G>T	\N	f	f
3685360	29	RYR1	c.529C>T	\N	f	f
3685362	29	RYR1	c.533A>G	\N	f	f
3685364	29	RYR1	c.533A>C	\N	f	f
3685368	29	RYR1	c.641C>T	\N	f	f
3685370	29	RYR1	c.652G>A	\N	f	f
3685372	29	RYR1	c.677T>A	\N	f	f
3685374	29	RYR1	c.680A>T	\N	f	f
779158	90	RYR1	c.742G>C	\N	f	f
3685380	29	RYR1	c.946C>T	\N	f	f
3685382	29	RYR1	c.947G>T	\N	f	f
779162	90	RYR1	c.982C>T	\N	f	f
3685386	29	RYR1	c.992_994dup	\N	f	f
779164	90	RYR1	c.1021G>A	\N	f	f
779166	90	RYR1	c.1021G>C	\N	f	f
3685392	29	RYR1	c.1024G>A	\N	f	f
3685394	29	RYR1	c.1100G>A	\N	f	f
3685396	29	RYR1	c.1100G>T	\N	f	f
779168	90	RYR1	c.1201C>T	\N	f	f
3685402	29	RYR1	c.1201C>A	\N	f	f
3685404	29	RYR1	c.1201C>G	\N	f	f
3685406	29	RYR1	c.1202G>T	\N	f	f
3685408	29	RYR1	c.1202G>A	\N	f	f
779170	90	RYR1	c.1209C>G	\N	f	f
3685412	29	RYR1	c.1411C>T	\N	f	f
3685414	29	RYR1	c.1422G>T	\N	f	f
3685416	29	RYR1	c.1453A>G	\N	f	f
3685418	29	RYR1	c.1459C>G	\N	f	f
3685420	29	RYR1	c.1460T>C	\N	f	f
3685422	29	RYR1	c.1475G>A	\N	f	f
3685424	29	RYR1	c.1553T>C	\N	f	f
779172	90	RYR1	c.1565A>C	\N	f	f
779174	90	RYR1	c.1589G>A	\N	f	f
779176	90	RYR1	c.1597C>T	\N	f	f
3685434	29	RYR1	c.1597C>A	\N	f	f
779178	90	RYR1	c.1598G>A	\N	f	f
3685438	29	RYR1	c.1615T>C	\N	f	f
3685440	29	RYR1	c.1615T>G	\N	f	f
3685442	29	RYR1	c.1630G>T	\N	f	f
779180	90	RYR1	c.1654C>T	\N	f	f
3685446	29	RYR1	c.1834G>C	\N	f	f
779182	90	RYR1	c.1840C>T	\N	f	f
779184	90	RYR1	c.1841G>T	\N	f	f
3685452	29	RYR1	c.2050G>C	\N	f	f
3685454	29	RYR1	c.2122G>A	\N	f	f
3685456	29	RYR1	c.2447C>T	\N	f	f
3685460	29	RYR1	c.2654G>A	\N	f	f
3685462	29	RYR1	c.2797G>A	\N	f	f
3685464	29	RYR1	c.2924G>A	\N	f	f
3685466	29	RYR1	c.2996G>A	\N	f	f
3685468	29	RYR1	c.3095G>A	\N	f	f
3685470	29	RYR1	c.3127C>T	\N	f	f
3685472	29	RYR1	c.3166G>C	\N	f	f
3685474	29	RYR1	c.3166G>A	\N	f	f
3685476	29	RYR1	c.3172G>A	\N	f	f
3685478	29	RYR1	c.3224G>A	\N	f	f
3685480	29	RYR1	c.3418C>T	\N	f	f
3685482	29	RYR1	c.3527C>T	\N	f	f
3685484	29	RYR1	c.3656A>C	\N	f	f
3685486	29	RYR1	c.3667G>A	\N	f	f
3685490	29	RYR1	c.4178A>G	\N	f	f
3685492	29	RYR1	c.4400A>G	\N	f	f
3685494	29	RYR1	c.4711A>G	\N	f	f
3685496	29	RYR1	c.4747C>T	\N	f	f
3685498	29	RYR1	c.4763C>T	\N	f	f
3685500	29	RYR1	c.4775C>T	\N	f	f
3685502	29	RYR1	c.5024T>C	\N	f	f
3685504	29	RYR1	c.5033A>G	\N	f	f
3685506	29	RYR1	c.5036G>A	\N	f	f
3685508	29	RYR1	c.5132A>G	\N	f	f
3685510	29	RYR1	c.5183C>T	\N	f	f
3685512	29	RYR1	c.5186T>G	\N	f	f
3685514	29	RYR1	c.5317C>T	\N	f	f
3685516	29	RYR1	c.5341T>C	\N	f	f
3685518	29	RYR1	c.5360C>T	\N	f	f
3685522	29	RYR1	c.5441T>A	\N	f	f
3685526	29	RYR1	c.6037A>C	\N	f	f
3685528	29	RYR1	c.6178G>T	\N	f	f
3685530	29	RYR1	c.6302T>A	\N	f	f
3685532	29	RYR1	c.6304G>C	\N	f	f
3685534	29	RYR1	c.6349G>C	\N	f	f
3685536	29	RYR1	c.6377G>A	\N	f	f
3685538	29	RYR1	c.6387C>G	\N	f	f
3685540	29	RYR1	c.6388G>A	\N	f	f
3685542	29	RYR1	c.6478G>A	\N	f	f
779186	90	RYR1	c.6487C>T	\N	f	f
779188	90	RYR1	c.6488G>A	\N	f	f
3685548	29	RYR1	c.6488G>C	\N	f	f
779190	90	RYR1	c.6502G>A	\N	f	f
3685554	29	RYR1	c.6544A>T	\N	f	f
3685556	29	RYR1	c.6548G>A	\N	f	f
3685558	29	RYR1	c.6599C>T	\N	f	f
778104	159	CYP2D6	*93	PV00510	f	f
778238	158	CYP4F2	*1	PV02212	t	f
3318591	58	CYP4F2	*11	PV02320	f	f
777736	159	CYP2C9	*35	PV00571	f	f
778329	90	DPYD	c.46C>G	\N	f	f
778347	90	DPYD	c.498G>A	\N	f	f
778331	90	DPYD	c.61C>T	\N	f	f
778349	90	DPYD	c.525G>A	\N	f	f
778351	90	DPYD	c.557A>G	\N	f	f
778353	90	DPYD	c.601A>C	\N	f	f
778355	90	DPYD	c.632A>G	\N	f	f
778357	90	DPYD	c.703C>T (*8)	\N	f	f
778158	159	CYP2D6	*120	PV00630	f	f
2091248	103	CYP2D6	*158	PV01951	f	f
2677041	81	CYP2D6	*165	PV02201	f	f
778359	90	DPYD	c.775A>G	\N	f	f
778361	90	DPYD	c.868A>G	\N	f	f
778363	90	DPYD	c.929T>C	\N	f	f
778365	90	DPYD	c.934C>T	\N	f	f
778367	90	DPYD	c.967G>A	\N	f	f
778369	90	DPYD	c.1003G>T (*11)	\N	f	f
778371	90	DPYD	c.1024G>A	\N	f	f
778333	90	DPYD	c.62G>A	\N	f	f
778335	90	DPYD	c.85T>C (*9A)	\N	f	f
777754	159	CYP2C9	*44	PV00580	f	f
778339	90	DPYD	c.313G>A	\N	f	f
778373	90	DPYD	c.1057C>T	\N	f	f
778375	90	DPYD	c.1108A>G	\N	f	f
3942827	22	DPYD	c.1129-5923C>G	\N	f	f
778377	90	DPYD	c.1129-5923C>G, c.1236G>A (HapB3)	\N	f	f
778379	90	DPYD	c.1156G>T (*12)	\N	f	f
778381	90	DPYD	c.1180C>T	\N	f	f
778383	90	DPYD	c.1181G>T	\N	f	f
778385	90	DPYD	c.1218G>A	\N	f	f
778387	90	DPYD	c.1260T>A	\N	f	f
778389	90	DPYD	c.1278G>T	\N	f	f
778391	90	DPYD	c.1294G>A	\N	f	f
778393	90	DPYD	c.1314T>G	\N	f	f
778395	90	DPYD	c.1349C>T	\N	f	f
3685578	29	RYR1	c.6742C>T	\N	f	f
778397	90	DPYD	c.1358C>G	\N	f	f
778399	90	DPYD	c.1371C>T	\N	f	f
778401	90	DPYD	c.1403C>A	\N	f	f
778403	90	DPYD	c.1475C>T	\N	f	f
778405	90	DPYD	c.1484A>G	\N	f	f
778407	90	DPYD	c.1519G>A	\N	f	f
778409	90	DPYD	c.1543G>A	\N	f	f
778411	90	DPYD	c.1577C>G	\N	f	f
778413	90	DPYD	c.1601G>A (*4)	\N	f	f
778415	90	DPYD	c.1615G>A	\N	f	f
778417	90	DPYD	c.1627A>G (*5)	\N	f	f
778419	90	DPYD	c.1679T>G (*13)	\N	f	f
778421	90	DPYD	c.1682G>T	\N	f	f
778423	90	DPYD	c.1774C>T	\N	f	f
778425	90	DPYD	c.1775G>A	\N	f	f
778427	90	DPYD	c.1777G>A	\N	f	f
778429	90	DPYD	c.1796T>C	\N	f	f
778431	90	DPYD	c.1896T>C	\N	f	f
778433	90	DPYD	c.1898delC (*3)	\N	f	f
778437	90	DPYD	c.1905+1G>A (*2A)	\N	f	f
778445	90	DPYD	c.2161G>A	\N	f	f
778447	90	DPYD	c.2186C>T	\N	f	f
778449	90	DPYD	c.2194G>A (*6)	\N	f	f
778451	90	DPYD	c.2195T>G	\N	f	f
778455	90	DPYD	c.2303C>A	\N	f	f
778457	90	DPYD	c.2336C>A	\N	f	f
778459	90	DPYD	c.2482G>A	\N	f	f
778461	90	DPYD	c.2582A>G	\N	f	f
778463	90	DPYD	c.2623A>C	\N	f	f
778465	90	DPYD	c.2639G>T	\N	f	f
778467	90	DPYD	c.2656C>T	\N	f	f
778469	90	DPYD	c.2657G>A (*9B)	\N	f	f
778471	90	DPYD	c.2846A>T	\N	f	f
778473	90	DPYD	c.2872A>G	\N	f	f
778475	90	DPYD	c.2915A>G	\N	f	f
778477	90	DPYD	c.2921A>T	\N	f	f
778479	90	DPYD	c.2933A>G	\N	f	f
778481	90	DPYD	c.2978T>G	\N	f	f
778487	90	DPYD	c.3049G>A	\N	f	f
778489	90	DPYD	c.3061G>C	\N	f	f
778491	90	DPYD	c.3067C>A	\N	f	f
3685366	29	RYR1	c.625G>A	\N	f	f
3685560	29	RYR1	c.6612C>G	\N	f	f
779192	90	RYR1	c.6617C>G	\N	f	f
779194	90	RYR1	c.6617C>T	\N	f	f
3685566	29	RYR1	c.6628G>T	\N	f	f
3685568	29	RYR1	c.6635T>A	\N	f	f
3685570	29	RYR1	c.6640G>A	\N	f	f
3685572	29	RYR1	c.6671G>A	\N	f	f
3685574	29	RYR1	c.6670C>T	\N	f	f
3685576	29	RYR1	c.6710G>A	\N	f	f
3685582	29	RYR1	c.6757C>T	\N	f	f
3685584	29	RYR1	c.6838G>A	\N	f	f
3685586	29	RYR1	c.6847A>C	\N	f	f
3685588	29	RYR1	c.6961A>G	\N	f	f
779196	90	RYR1	c.7007G>A	\N	f	f
3685592	29	RYR1	c.7018T>C	\N	f	f
2899144	73	CYP2B6	*40	PV02268	f	f
2899160	73	CYP2B6	*48	PV02284	f	f
777586	159	CYP2C19	*31	PV00625	f	f
777596	154	CYP2C19	*36	PV00730	f	t
777668	159	CYP2C9	*1	PV00537	t	f
777708	159	CYP2C9	*21	PV00557	f	f
777718	159	CYP2C9	*26	PV00562	f	f
777808	159	CYP2C9	*71	PV01444	f	f
1932995	109	CYP2C9	*81	PV01790	f	f
778134	159	CYP2D6	*108	PV00525	f	f
777960	154	CYP2D6	*13	PV00438	f	t
778194	159	CYP2D6	*138	PV00722	f	f
778198	159	CYP2D6	*140	PV01361	f	f
778341	90	DPYD	c.343A>G	\N	f	f
778343	90	DPYD	c.451A>G	\N	f	f
778154	159	CYP2D6	*118	PV00535	f	f
2091240	103	CYP2D6	*154	PV01934	f	f
778327	90	DPYD	Reference	\N	t	f
778345	90	DPYD	c.496A>G	\N	f	f
1508726	71	ABCG2	rs2231142 variant (T)	\N	f	f
777264	90	CACNA1S	c.520C>T	\N	f	f
777371	90	CFTR	R74W	\N	f	f
777321	90	CFTR	D110E	\N	f	f
777323	90	CFTR	D110H	\N	f	f
777363	90	CFTR	R117C	\N	f	f
777365	90	CFTR	R117H	\N	f	f
777347	90	CFTR	G178R	\N	f	f
777331	90	CFTR	E193K	\N	f	f
777315	90	CFTR	711+3A->G	\N	f	f
777355	90	CFTR	L206W	\N	f	f
777367	90	CFTR	R347H	\N	f	f
777369	90	CFTR	R352Q	\N	f	f
777319	90	CFTR	A455E	\N	f	f
777377	90	CFTR	S549N	\N	f	f
777381	90	CFTR	S549R(T>G)	\N	f	f
777351	90	CFTR	G551S	\N	f	f
777349	90	CFTR	G551D	\N	f	f
777329	90	CFTR	D579G	\N	f	f
777335	90	CFTR	E831X	\N	f	f
777309	90	CFTR	2789+5G->A	\N	f	f
777383	90	CFTR	S945L	\N	f	f
777385	90	CFTR	S977F	\N	f	f
777311	90	CFTR	3272-26A->G	\N	f	f
777337	90	CFTR	F1052V	\N	f	f
777353	90	CFTR	K1060T	\N	f	f
777317	90	CFTR	A1067T	\N	f	f
777341	90	CFTR	G1069R	\N	f	f
777359	90	CFTR	R1070Q	\N	f	f
777361	90	CFTR	R1070W	\N	f	f
777325	90	CFTR	D1152H	\N	f	f
777313	90	CFTR	3849+10kbC->T	\N	f	f
777343	90	CFTR	G1244E	\N	f	f
777373	90	CFTR	S1251N	\N	f	f
777375	90	CFTR	S1255P	\N	f	f
777327	90	CFTR	D1270N	\N	f	f
777345	90	CFTR	G1349D	\N	f	f
777422	159	CYP2B6	*1	PV00738	t	f
777424	159	CYP2B6	*2	PV00740	f	f
777426	159	CYP2B6	*3	PV00741	f	f
777582	159	CYP2C19	*29	PV00623	f	f
777584	159	CYP2C19	*30	PV02141	f	f
777588	159	CYP2C19	*32	PV00626	f	f
777590	159	CYP2C19	*33	PV00627	f	f
778100	159	CYP2D6	*91	PV00508	f	f
778102	159	CYP2D6	*92	PV00509	f	f
778106	159	CYP2D6	*94	PV00511	f	f
778110	159	CYP2D6	*96	PV00513	f	f
778439	90	DPYD	c.1906A>C	\N	f	f
778441	90	DPYD	c.1990G>T	\N	f	f
778443	90	DPYD	c.2021G>A	\N	f	f
778666	91	G6PD	B (reference)	\N	t	f
778748	90	G6PD	A- 680T_376G	\N	f	f
778750	90	G6PD	A- 968C_376G	\N	f	f
778916	90	G6PD	Aachen	\N	f	f
778962	90	G6PD	Abeno	\N	f	f
778950	90	G6PD	Alhambra	\N	f	f
778702	90	G6PD	Amazonia	\N	f	f
779006	90	G6PD	Amiens	\N	f	f
778700	90	G6PD	Amsterdam	\N	f	f
778956	90	G6PD	Anadia	\N	f	f
778746	90	G6PD	Ananindeua	\N	f	f
779036	90	G6PD	Arakawa	\N	f	f
778708	90	G6PD	Asahi	\N	f	f
778686	90	G6PD	Aures	\N	f	f
778836	90	G6PD	Aveiro	\N	f	f
778858	90	G6PD	Bajo Maumere	\N	f	f
778844	90	G6PD	Bangkok	\N	f	f
779008	90	G6PD	Bangkok Noi	\N	f	f
778738	90	G6PD	Bao Loc	\N	f	f
778952	90	G6PD	Bari	\N	f	f
778766	90	G6PD	Belem	\N	f	f
779034	90	G6PD	Buenos Aires	\N	f	f
778762	90	G6PD	Cairo	\N	f	f
778922	90	G6PD	Calvo Mackenna	\N	f	f
779032	90	G6PD	Campinas	\N	f	f
779012	90	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	\N	f	f
778994	90	G6PD	Cassano	\N	f	f
778894	90	G6PD	Chatham	\N	f	f
778794	90	G6PD	Chikugo	\N	f	f
778854	90	G6PD	Chinese-1	\N	f	f
778900	90	G6PD	Chinese-5	\N	f	f
778816	90	G6PD	Cincinnati	\N	f	f
778840	90	G6PD	Cleveland Corum	\N	f	f
779010	90	G6PD	Cosenza	\N	f	f
778698	90	G6PD	Costanzo	\N	f	f
778958	90	G6PD	Covao do Lobo	\N	f	f
778740	90	G6PD	Crispim	\N	f	f
778810	90	G6PD	Dagua	\N	f	f
778830	90	G6PD	Durham	\N	f	f
778888	90	G6PD	Farroupilha	\N	f	f
779004	90	G6PD	Figuera da Foz	\N	f	f
779018	90	G6PD	Flores	\N	f	f
779030	90	G6PD	Fukaya	\N	f	f
778896	90	G6PD	Fushan	\N	f	f
778674	90	G6PD	Gaohe	\N	f	f
778960	90	G6PD	Clinic	\N	f	f
778804	90	G6PD	Coimbra Shunde	\N	f	f
778978	90	G6PD	Georgia	\N	f	f
778680	90	G6PD	Gidra	\N	f	f
778936	90	G6PD	Guadalajara	\N	f	f
778726	90	G6PD	Guangzhou	\N	f	f
778852	90	G6PD	Haikou	\N	f	f
778734	90	G6PD	Hammersmith	\N	f	f
778818	90	G6PD	Harilaou	\N	f	f
778998	90	G6PD	Harima	\N	f	f
778940	90	G6PD	Hartford	\N	f	f
778710	90	G6PD	Hechi	\N	f	f
778996	90	G6PD	Hermoupolis	\N	f	f
778676	90	G6PD	Honiara	\N	f	f
778770	90	G6PD	Ilesha	\N	f	f
778890	90	G6PD	Insuli	\N	f	f
778934	90	G6PD	Iowa, Walter Reed, Springfield	\N	f	f
778908	90	G6PD	Iwatsuki	\N	f	f
778970	90	G6PD	Japan, Shinagawa	\N	f	f
779022	90	G6PD	Kaiping, Anant, Dhon, Sapporo-like, Wosera	\N	f	f
778880	90	G6PD	Kalyan-Kerala, Jamnaga, Rohini	\N	f	f
778688	90	G6PD	Kambos	\N	f	f
779016	90	G6PD	Kamiube, Keelung	\N	f	f
778692	90	G6PD	Kamogawa	\N	f	f
778972	90	G6PD	Kawasaki	\N	f	f
778690	90	G6PD	Kozukata	\N	f	f
778944	90	G6PD	Krakow	\N	f	f
778848	90	G6PD	La Jolla	\N	f	f
778672	90	G6PD	Lages	\N	f	f
779026	90	G6PD	Laibin	\N	f	f
778842	90	G6PD	Lille	\N	f	f
778768	90	G6PD	Liuzhou	\N	f	f
778914	90	G6PD	Loma Linda	\N	f	f
778878	90	G6PD	Ludhiana	\N	f	f
778930	90	G6PD	Lynwood	\N	f	f
778932	90	G6PD	Madrid	\N	f	f
778776	90	G6PD	Mahidol	\N	f	f
778796	90	G6PD	Malaga	\N	f	f
778884	90	G6PD	Manhattan	\N	f	f
778984	90	G6PD	Mediterranean Haplotype	\N	f	f
778696	90	G6PD	Metaponto	\N	f	f
778822	90	G6PD	Mexico City	\N	f	f
778790	90	G6PD	Miaoli	\N	f	f
778814	90	G6PD	Minnesota, Marion, Gastonia, LeJeune	\N	f	f
778902	90	G6PD	Mira d'Aire	\N	f	f
778860	90	G6PD	Mizushima	\N	f	f
778868	90	G6PD	Montalbano	\N	f	f
778920	90	G6PD	Montpellier	\N	f	f
778754	90	G6PD	Mt Sinai	\N	f	f
778974	90	G6PD	Munich	\N	f	f
778718	90	G6PD	Murcia Oristano	\N	f	f
778704	90	G6PD	Musashino	\N	f	f
778716	90	G6PD	Namouru	\N	f	f
778788	90	G6PD	Nankang	\N	f	f
778828	90	G6PD	Nanning	\N	f	f
778784	90	G6PD	Naone	\N	f	f
778882	90	G6PD	Nara	\N	f	f
778948	90	G6PD	Nashville, Anaheim, Portici	\N	f	f
779024	90	G6PD	Neapolis	\N	f	f
779014	90	G6PD	Nice	\N	f	f
778808	90	G6PD	Nilgiri	\N	f	f
778668	90	G6PD	No name	\N	f	f
778824	90	G6PD	North Dallas	\N	f	f
778926	90	G6PD	Olomouc	\N	f	f
778876	90	G6PD	Omiya	\N	f	f
778684	90	G6PD	Orissa	\N	f	f
778866	90	G6PD	Osaka	\N	f	f
778694	90	G6PD	Palestrina	\N	f	f
778862	90	G6PD	Papua	\N	f	f
778904	90	G6PD	Partenope	\N	f	f
778986	90	G6PD	Pawnee	\N	f	f
778864	90	G6PD	Piotrkow	\N	f	f
778778	90	G6PD	Plymouth	\N	f	f
778942	90	G6PD	Praha	\N	f	f
778760	90	G6PD	Quing Yan	\N	f	f
778820	90	G6PD	Radlowo	\N	f	f
778886	90	G6PD	Rehevot	\N	f	f
778682	90	G6PD	Rignano	\N	f	f
778924	90	G6PD	Riley	\N	f	f
778968	90	G6PD	Riverside	\N	f	f
778838	90	G6PD	Roubaix	\N	f	f
778992	90	G6PD	S. Antioco	\N	f	f
778758	90	G6PD	Salerno Pyrgos	\N	f	f
778806	90	G6PD	Santiago	\N	f	f
778736	90	G6PD	Sao Borja	\N	f	f
778856	90	G6PD	Seattle, Lodi, Modena, Ferrara II, Athens-like	\N	f	f
778874	90	G6PD	Seoul	\N	f	f
778910	90	G6PD	Serres	\N	f	f
778772	90	G6PD	Shenzen	\N	f	f
778792	90	G6PD	Shinshu	\N	f	f
778812	90	G6PD	Sibari	\N	f	f
778730	90	G6PD	Sierra Leone	\N	f	f
778670	90	G6PD	Sinnai	\N	f	f
778706	90	G6PD	Songklanagarind	\N	f	f
779028	90	G6PD	Split	\N	f	f
778832	90	G6PD	Stonybrook	\N	f	f
778846	90	G6PD	Sugao	\N	f	f
778982	90	G6PD	Sumare	\N	f	f
778678	90	G6PD	Sunderland	\N	f	f
778980	90	G6PD	Surabaya	\N	f	f
778966	90	G6PD	Suwalki	\N	f	f
778720	90	G6PD	Swansea	\N	f	f
3564276	31	G6PD	Telti, Kobe	\N	f	f
778918	90	G6PD	Tenri	\N	f	f
778976	90	G6PD	Tokyo, Fukushima	\N	f	f
778782	90	G6PD	Toledo	\N	f	f
778928	90	G6PD	Tomah	\N	f	f
778912	90	G6PD	Tondela	\N	f	f
778898	90	G6PD	Torun	\N	f	f
778798	90	G6PD	Tsukui	\N	f	f
778722	90	G6PD	Ube Konan	\N	f	f
779000	90	G6PD	Union,Maewo, Chinese-2, Kalo	\N	f	f
778728	90	G6PD	Urayasu	\N	f	f
778964	90	G6PD	Utrecht	\N	f	f
778764	90	G6PD	Valladolid	\N	f	f
778732	90	G6PD	Vancouver	\N	f	f
778756	90	G6PD	Vanua Lava	\N	f	f
778870	90	G6PD	Viangchan, Jammu	\N	f	f
778892	90	G6PD	Villeurbanne	\N	f	f
778786	90	G6PD	Volendam	\N	f	f
778834	90	G6PD	Wayne	\N	f	f
778850	90	G6PD	Wexham	\N	f	f
3685594	29	RYR1	c.7025A>G	\N	f	f
3685596	29	RYR1	c.7032G>C	\N	f	f
3685598	29	RYR1	c.7035C>A	\N	f	f
3685600	29	RYR1	c.7036G>A	\N	f	f
779198	90	RYR1	c.7042_7044delGAG	\N	f	f
3685604	29	RYR1	c.7043A>G	\N	f	f
778946	90	G6PD	Wisconsin	\N	f	f
779020	90	G6PD	Yunan	\N	f	f
779200	90	RYR1	c.7048G>A	\N	f	f
3685608	29	RYR1	c.7060G>A	\N	f	f
3685612	29	RYR1	c.7073T>A	\N	f	f
3685614	29	RYR1	c.7076G>A	\N	f	f
3685616	29	RYR1	c.7075C>T	\N	f	f
3685618	29	RYR1	c.7084G>A	\N	f	f
3685620	29	RYR1	c.7085A>G	\N	f	f
3685622	29	RYR1	c.7089C>G	\N	f	f
3685624	29	RYR1	c.7090T>G	\N	f	f
3685626	29	RYR1	c.7097C>G	\N	f	f
3685628	29	RYR1	c.7099G>A	\N	f	f
3685630	29	RYR1	c.7112A>G	\N	f	f
3685632	29	RYR1	c.7123G>A	\N	f	f
779204	90	RYR1	c.7124G>C	\N	f	f
3685636	29	RYR1	c.7199A>G	\N	f	f
3685638	29	RYR1	c.7210G>A	\N	f	f
3685642	29	RYR1	c.7291G>A	\N	f	f
3685644	29	RYR1	c.7291G>T	\N	f	f
779208	90	RYR1	c.7300G>A	\N	f	f
779210	90	RYR1	c.7304G>A	\N	f	f
3685652	29	RYR1	c.7304G>T	\N	f	f
3685654	29	RYR1	c.7307G>A	\N	f	f
3685656	29	RYR1	c.7310C>T	\N	f	f
3685658	29	RYR1	c.7317G>C	\N	f	f
779212	90	RYR1	c.7354C>T	\N	f	f
3685662	29	RYR1	c.7355G>A	\N	f	f
3685664	29	RYR1	c.7355G>C	\N	f	f
3685666	29	RYR1	c.7358T>C	\N	f	f
779214	90	RYR1	c.7360C>T	\N	f	f
779216	90	RYR1	c.7361G>A	\N	f	f
779218	90	RYR1	c.7372C>T	\N	f	f
3685676	29	RYR1	c.7373G>T	\N	f	f
3685678	29	RYR1	c.7385C>T	\N	f	f
3685680	29	RYR1	c.7487C>T	\N	f	f
779222	90	RYR1	c.7522C>T	\N	f	f
779224	90	RYR1	c.7522C>G	\N	f	f
779226	90	RYR1	c.7523G>A	\N	f	f
3685688	29	RYR1	c.7528T>C	\N	f	f
3685690	29	RYR1	c.7760A>G	\N	f	f
3685692	29	RYR1	c.7771C>G	\N	f	f
3685696	29	RYR1	c.7777C>G	\N	f	f
3685698	29	RYR1	c.7778G>A	\N	f	f
3685700	29	RYR1	c.7787C>T	\N	f	f
3685702	29	RYR1	c.7816T>A	\N	f	f
3685706	29	RYR1	c.7879G>A	\N	f	f
3685708	29	RYR1	c.8005G>A	\N	f	f
3685710	29	RYR1	c.8026C>T	\N	f	f
3685712	29	RYR1	c.8054C>T	\N	f	f
3685714	29	RYR1	c.8188G>C	\N	f	f
3685716	29	RYR1	c.8189A>G	\N	f	f
3685718	29	RYR1	c.8198G>A	\N	f	f
3685720	29	RYR1	c.8290G>A	\N	f	f
3685722	29	RYR1	c.8327C>T	\N	f	f
3685724	29	RYR1	c.8360C>G	\N	f	f
3685728	29	RYR1	c.8527T>C	\N	f	f
3685730	29	RYR1	c.8600T>A	\N	f	f
3685732	29	RYR1	c.8638G>A	\N	f	f
3685736	29	RYR1	c.8729C>T	\N	f	f
3685738	29	RYR1	c.8926C>T	\N	f	f
3685740	29	RYR1	c.9152G>A	\N	f	f
3685742	29	RYR1	c.9268G>A	\N	f	f
779228	90	RYR1	c.9310G>A	\N	f	f
3685746	29	RYR1	c.9356G>A	\N	f	f
3685748	29	RYR1	c.9499C>T	\N	f	f
3685750	29	RYR1	c.9635A>G	\N	f	f
3685752	29	RYR1	c.9649T>C	\N	f	f
3685754	29	RYR1	c.9652G>A	\N	f	f
3685756	29	RYR1	c.9676G>C	\N	f	f
3685760	29	RYR1	c.9797T>C	\N	f	f
3685762	29	RYR1	c.9848G>A	\N	f	f
3685766	29	RYR1	c.9868G>A	\N	f	f
3685768	29	RYR1	c.10042C>T	\N	f	f
3685770	29	RYR1	c.10043G>A	\N	f	f
3685772	29	RYR1	c.10097G>A	\N	f	f
3685774	29	RYR1	c.10100A>G	\N	f	f
3685776	29	RYR1	c.10229C>A	\N	f	f
3685778	29	RYR1	c.10237A>T	\N	f	f
3685780	29	RYR1	c.10252A>G	\N	f	f
3685782	29	RYR1	c.10556C>T	\N	f	f
3685784	29	RYR1	c.10616G>A	\N	f	f
3685786	29	RYR1	c.10747G>C	\N	f	f
3685788	29	RYR1	c.10750G>C	\N	f	f
3685792	29	RYR1	c.11086G>C	\N	f	f
3685796	29	RYR1	c.11126C>T	\N	f	f
3685798	29	RYR1	c.11132C>T	\N	f	f
3685800	29	RYR1	c.11266C>G	\N	f	f
3685802	29	RYR1	c.11315G>A	\N	f	f
3685804	29	RYR1	c.11314C>T	\N	f	f
3685806	29	RYR1	c.11416G>A	\N	f	f
3685808	29	RYR1	c.11518G>A	\N	f	f
3685810	29	RYR1	c.11708G>A	\N	f	f
3685812	29	RYR1	c.11723A>T	\N	f	f
3685814	29	RYR1	c.11748T>G	\N	f	f
3685816	29	RYR1	c.11798A>G	\N	f	f
3685818	29	RYR1	c.11813G>A	\N	f	f
3685820	29	RYR1	c.11947C>T	\N	f	f
779230	90	RYR1	c.11969G>T	\N	f	f
3685828	29	RYR1	c.12028G>A	\N	f	f
3685830	29	RYR1	c.12064A>G	\N	f	f
3685832	29	RYR1	c.12115A>T	\N	f	f
3685834	29	RYR1	c.12121C>T	\N	f	f
3685836	29	RYR1	c.12149C>A	\N	f	f
3685838	29	RYR1	c.12242C>T	\N	f	f
3685840	29	RYR1	c.12310G>C	\N	f	f
3685842	29	RYR1	c.12355A>T	\N	f	f
3685844	29	RYR1	c.12383C>T	\N	f	f
3685846	29	RYR1	c.12398A>G	\N	f	f
3685848	29	RYR1	c.12406C>A	\N	f	f
3685850	29	RYR1	c.12413T>C	\N	f	f
3685852	29	RYR1	c.12532G>A	\N	f	f
3685858	29	RYR1	c.12689T>G	\N	f	f
3685860	29	RYR1	c.12700G>C	\N	f	f
3685862	29	RYR1	c.12700G>T	\N	f	f
3685864	29	RYR1	c.12848A>T	\N	f	f
3685866	29	RYR1	c.12881C>T	\N	f	f
3685868	29	RYR1	c.12884C>T	\N	f	f
3685870	29	RYR1	c.13505A>G	\N	f	f
3685872	29	RYR1	c.13513G>C	\N	f	f
\.


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

COPY cpic.allele_frequency (alleleid, population, frequency, label, version) FROM stdin;
2091251	6344341	\N	\N	1
2091253	6344341	\N	\N	1
2091255	6344341	\N	\N	1
2091257	6344341	\N	\N	1
2091259	6344341	\N	\N	1
779035	6345335	\N	\N	1
779688	6344342	\N	\N	1
1777304	6344342	\N	\N	1
777939	6344342	\N	\N	1
779691	6344342	\N	\N	1
1777307	6344342	\N	\N	1
777941	6344342	\N	\N	1
779694	6344342	\N	\N	1
777943	6344342	\N	\N	1
1777311	6344342	\N	\N	1
1777312	6344342	\N	\N	1
777945	6344342	\N	\N	1
777947	6344342	\N	\N	1
779699	6344342	\N	\N	1
777949	6344342	\N	\N	1
777951	6344342	\N	\N	1
777953	6344342	\N	\N	1
779703	6344342	\N	\N	1
777955	6344342	0.0663	0.0663	1
779705	6344342	0	0.0	1
777957	6344342	\N	\N	1
777959	6344342	\N	\N	1
777961	6344342	\N	\N	1
777963	6344342	\N	\N	1
777965	6344342	\N	\N	1
777967	6344342	\N	\N	1
779712	6344342	\N	\N	1
777969	6344342	\N	\N	1
777971	6344342	\N	\N	1
777973	6344342	\N	\N	1
777975	6344342	\N	\N	1
777977	6344342	\N	\N	1
777979	6344342	\N	\N	1
777981	6344342	\N	\N	1
777983	6344342	\N	\N	1
777985	6344342	\N	\N	1
777987	6344342	\N	\N	1
777989	6344342	\N	\N	1
777991	6344342	\N	\N	1
779725	6344342	\N	\N	1
777993	6344342	\N	\N	1
777995	6344342	\N	\N	1
777997	6344342	\N	\N	1
777999	6344342	\N	\N	1
778001	6344342	\N	\N	1
778003	6344342	\N	\N	1
779732	6344342	\N	\N	1
778005	6344342	0.0098	0.0098	1
779734	6344342	0	0.0	1
778007	6344342	\N	\N	1
778009	6344342	\N	\N	1
778011	6344342	\N	\N	1
778013	6344342	\N	\N	1
778015	6344342	\N	\N	1
779740	6344342	\N	\N	1
779741	6344342	\N	\N	1
778017	6344342	\N	\N	1
778019	6344342	\N	\N	1
779744	6344342	\N	\N	1
778021	6344342	\N	\N	1
778023	6344342	\N	\N	1
779747	6344342	\N	\N	1
778025	6344342	\N	\N	1
778027	6344342	\N	\N	1
778029	6344342	\N	\N	1
778031	6344342	\N	\N	1
778033	6344342	\N	\N	1
778035	6344342	\N	\N	1
778037	6344342	\N	\N	1
778039	6344342	\N	\N	1
778041	6344342	\N	\N	1
778043	6344342	\N	\N	1
778045	6344342	\N	\N	1
778049	6344342	\N	\N	1
778051	6344342	\N	\N	1
778053	6344342	\N	\N	1
778055	6344342	\N	\N	1
778057	6344342	\N	\N	1
778059	6344342	\N	\N	1
778061	6344342	\N	\N	1
778063	6344342	\N	\N	1
778065	6344342	\N	\N	1
778067	6344342	\N	\N	1
778069	6344342	\N	\N	1
778071	6344342	\N	\N	1
778073	6344342	\N	\N	1
778075	6344342	\N	\N	1
778077	6344342	\N	\N	1
778079	6344342	\N	\N	1
778081	6344342	\N	\N	1
778083	6344342	\N	\N	1
778085	6344342	\N	\N	1
778087	6344342	\N	\N	1
778089	6344342	\N	\N	1
778091	6344342	\N	\N	1
778093	6344342	\N	\N	1
778095	6344342	\N	\N	1
778097	6344342	\N	\N	1
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