3685593	105	RYR1	c.7018T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685592	{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
3685595	105	RYR1	c.7025A>G	Likely Benign	Normal function	\N	n/a	3685594	{35849058}	\N	\N	PS3_Mod, PM1, PP1, BS1, BS2	{"Latino": 0.0005235, "American": null, "European": 0.0016278748, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.001243, "Sub-Saharan African": 0.0004104}	f
3685597	105	RYR1	c.7032G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685596	{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
3685599	105	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
3685601	105	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
779199	293	RYR1	c.7042_7044delGAG	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779198	{33767344}	\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
3685605	105	RYR1	c.7043A>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685604	{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": 0.00004829}	f
779201	293	RYR1	c.7048G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779200	{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
3685609	105	RYR1	c.7060G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685608	{35849058}	\N	\N	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
779203	293	RYR1	c.7063C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779202	{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": 0.0002075, "Sub-Saharan African": null}	f
3685613	105	RYR1	c.7073T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685612	{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
3685617	105	RYR1	c.7075C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685616	{35849058}	\N	\N	PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": 0.00006543, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
3685615	105	RYR1	c.7076G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685614	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.00002942, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685619	105	RYR1	c.7084G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685618	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685621	105	RYR1	c.7085A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685620	{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
3685623	105	RYR1	c.7089C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685622	{35849058}	\N	\N	PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685625	105	RYR1	c.7090T>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685624	{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
3685627	105	RYR1	c.7097C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685626	{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
779213	293	RYR1	c.7354C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779212	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685663	105	RYR1	c.7355G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685662	{35849058}	\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
3685667	105	RYR1	c.7358T>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685666	{35849058}	\N	\N	PS2_PM6_Mod, 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
779217	293	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
779221	293	RYR1	c.7373G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779220	{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
3685679	105	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	293	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
779227	293	RYR1	c.7523G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779226	{33767344}	\N	\N	PS2_PM6_Sup, PS3_Mod, PS4, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685691	105	RYR1	c.7760A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685690	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685695	105	RYR1	c.7771C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685694	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685699	105	RYR1	c.7778G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685698	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.00004422, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685703	105	RYR1	c.7816T>A	Likely Benign	Normal function	\N	n/a	3685702	{35849058}	\N	\N	BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685705	105	RYR1	c.7879G>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685704	{35849058}	\N	\N	PS4_Mod, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685711	105	RYR1	c.8026C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685710	{35849058}	\N	\N	PS4_Mod, PP1_St	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685715	105	RYR1	c.8188G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685714	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685719	105	RYR1	c.8198G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685718	{35849058}	\N	\N	PS4_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685723	105	RYR1	c.8327C>T	Likely Benign	Normal function	\N	n/a	3685722	{35849058}	\N	\N	BS1	{"Latino": null, "American": null, "European": 0.0014621994, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001448}	f
3685727	105	RYR1	c.8518C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685726	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": 0.0001936, "Near Eastern": null, "Central/South Asian": 0.0002082, "Sub-Saharan African": null}	f
3685731	105	RYR1	c.8600T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685730	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685735	105	RYR1	c.8654C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685734	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685739	105	RYR1	c.8926C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685738	{35849058}	\N	\N	PS4_Sup, BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685743	105	RYR1	c.9268G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685742	{35849058}	\N	\N	PS4_Sup, BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685747	105	RYR1	c.9356G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685746	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": 0.0001925, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002412}	f
3685751	105	RYR1	c.9635A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685750	{35849058}	\N	\N	None	{"Latino": 0.00006544, "American": null, "European": 0.00059750484, "East Asian": null, "Near Eastern": 0.0002884, "Central/South Asian": null, "Sub-Saharan African": 0.00009651}	f
3685755	105	RYR1	c.9652G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685754	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": 0.0001925, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685759	105	RYR1	c.9758T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685758	{33767344}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001935}	f
3685761	105	RYR1	c.9797T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685760	{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
3685765	105	RYR1	c.9850T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685764	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685769	105	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
3685773	105	RYR1	c.10097G>A	Likely Benign	Normal function	\N	n/a	3685772	{33767344}	\N	\N	BS1	{"Latino": 0.002553, "American": null, "European": 0.001661, "East Asian": null, "Near Eastern": 0.001441, "Central/South Asian": 0.0008282, "Sub-Saharan African": 0.0001448}	f
3685777	105	RYR1	c.10229C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685776	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685781	105	RYR1	c.10252A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685780	{35849058}	\N	\N	PS4_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685785	105	RYR1	c.10616G>A	Likely Benign	Normal function	\N	n/a	3685784	{35849058}	\N	\N	PP3_Mod, BS1, BS2	{"Latino": 0.0002625, "American": null, "European": 0.0027869444, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.000416, "Sub-Saharan African": 0.0005563}	f
3685789	105	RYR1	c.10750G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685788	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685793	105	RYR1	c.11086G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685792	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685797	105	RYR1	c.11126C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685796	{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
3685801	105	RYR1	c.11266C>G	Benign	Normal function	\N	n/a	3685800	{33767344}	\N	\N	BA1	{"Latino": 0.07252, "American": null, "European": 0.019045949, "East Asian": 0.05963, "Near Eastern": 0.0018488563, "Central/South Asian": 0.03271, "Sub-Saharan African": 0.00777}	f
3685803	105	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	105	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	105	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	105	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
3685821	105	RYR1	c.11947C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685820	{33767344}	\N	\N	PS2_PM6_Mod, PS4_Sup, PP3_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685825	105	RYR1	c.11958C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685824	{33767344}	\N	\N	PS4, PP1, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685829	105	RYR1	c.12028G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685828	{35849058}	\N	\N	PS4_Sup, BP4	{"Latino": null, "American": null, "European": 0.00009436, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00009667}	f
3685833	105	RYR1	c.12115A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685832	{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
3685837	105	RYR1	c.12149C>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685836	{35849058}	\N	\N	PS4_Mod, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685841	105	RYR1	c.12310G>C	Likely Benign	Normal function	\N	n/a	3685840	{35849058}	\N	\N	BS2_Mod, BP4	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685845	105	RYR1	c.12383C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685844	{35849058}	\N	\N	PS4_Sup, BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685849	105	RYR1	c.12406C>A	Likely Benign	Normal function	\N	n/a	3685848	{35849058}	\N	\N	BS2_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685853	105	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
3685855	105	RYR1	c.12533G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685854	{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
3685857	105	RYR1	c.12553G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685856	{35849058}	\N	\N	BP4	{"Latino": 0.0008509, "American": null, "European": 0.0005145, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001448}	f
3685861	105	RYR1	c.12700G>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685860	{35849058}	\N	\N	PS4_Mod, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685865	105	RYR1	c.12848A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685864	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": 0.000199, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685869	105	RYR1	c.12884C>T	Benign	Normal function	\N	n/a	3685868	{33767344}	\N	\N	BS1, BS2_Mod, BP2, BP4	{"Latino": 0.0006122, "American": null, "European": 0.0030186172, "East Asian": 0.0009812, "Near Eastern": 0.0002953, "Central/South Asian": null, "Sub-Saharan African": 0.00136}	f
3685871	105	RYR1	c.13505A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685870	{33767344}	\N	\N	None	{"Latino": null, "American": null, "European": 0.0000588, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685877	105	RYR1	c.13672C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685876	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685879	105	RYR1	c.13702C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685878	{33767344}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685883	105	RYR1	c.13913G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685882	{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
3685887	105	RYR1	c.13934G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685886	{35849058}	\N	\N	PM1_Sup	{"Latino": 0.0001314, "American": null, "European": 0.00001471, "East Asian": 0.002118, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002418}	f
3685891	105	RYR1	c.13994_13995delTCinsCT	Variant of uncertain significance	Uncertain function	\N	n/a	3685890	{35849058}	\N	\N	PS2_PM6_Sup, PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685895	105	RYR1	c.14051T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685894	{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
3685899	105	RYR1	c.14168G>A	Likely Benign	Normal function	\N	n/a	3685898	{35849058}	\N	\N	PM1_Sup, BS2_Mod	{"Latino": 0.0001965, "American": null, "European": 0.00007349, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004827}	f
3685905	105	RYR1	c.14201G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685904	{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
3685909	105	RYR1	c.14210G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685908	{35849058}	\N	\N	PS4, PM1_Sup, PP1_St, PP3_Mod, BS2_Mod, PS3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685985	105	RYR1	c.14364+1G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685984	{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
3685915	105	RYR1	c.14422_14423delinsAA	Variant of uncertain significance	Uncertain function	\N	n/a	3685914	{35849058}	\N	\N	PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685919	105	RYR1	c.14449A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685918	{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
3685923	105	RYR1	c.14458G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685922	{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
779237	293	RYR1	c.14497C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779236	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, 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
3685931	105	RYR1	c.14510delA	Likely Benign	Normal function	\N	n/a	3685930	{35849058}	\N	\N	PS4_Sup, BS2_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685937	105	RYR1	c.14524G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685936	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": 0.0008641, "Central/South Asian": 0.000207, "Sub-Saharan African": 0.0002655}	f
779241	293	RYR1	c.14545G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779240	{33767344}	\N	\N	PS3_Mod, PS4, PM1_Sup, PP1_St	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
110056	115	HLA-B	*57:01	\N	\N	\N	\N	9002	\N	\N	\N	\N	{"Latino": 0.013904181, "American": 0.024912989, "European": 0.036044996, "Oceanian": 0.015734065, "East Asian": 0.009806251, "Near Eastern": 0.02337437, "Central/South Asian": 0.06814844, "Sub-Saharan African": 0.006092622, "African American/Afro-Caribbean": 0.006087779}	f
779298	292	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
779300	292	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	292	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
779304	293	SLCO1B1	*14	Increased function	Increased function	\N	\N	779303	{11477075,22147369,23311897,24122874,18781850,24420746,31777781,20139798,32961594}	Strong	\N	SLCO1B1*14 is assigned increased function based on strong evidence in heterozygous and homozygous patients. The lipid-lowering response to fluvastatin is associated with the *14 allele, with greater response in the *14/*14 patients (18781850). The clearance of high-dose methotrexate is significantly faster in patients with two *14 alleles (22147369), and response to low-dose methotrexate is reduced in patients with arthritis (31777781). Exposure to atorvastatin is decreased in heterozygous and homozygous subjects (23311897). The plasma levels of highly sensitive OATP1B1 endogenous substrate GCDCA-3G are significantly lower in *14 carriers than in individuals with the SLCO1B1*1/*1 diplotype (32961594). The *14 allele is associated with increased expression of the transporter in the liver (23311897, 24122874). In vitro studies that normalize the drug uptake to the protein concentration find no increased uptake of rifampin, estrone sulfate, or estradiol 17beta-glucuronide (11477075) and one found decreased uptake of estrone sulfate and ceravistatin (23652407). Therefore, consensus among experts was increased function.	{"American": null, "European": 0.135571, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
779334	292	SLCO1B1	*29	\N	Uncertain function	\N	\N	779333	{22147369,33658230}	Inadequate	\N	SLCO1B1*29 is assigned uncertain function based on limited in vitro evidence and limited clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369) and one in vitro study found normal protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779336	292	SLCO1B1	*30	\N	Uncertain function	\N	\N	779335	{22147369,33658230}	Inadequate	\N	SLCO1B1*30 is assigned uncertain function based on limited in vitro evidence and limited clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369) and one in vitro study found normal protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779338	293	SLCO1B1	*31	Decreased function	No function	\N	\N	779337	{22147369}	Limited	\N	SLCO1B1*31 is assigned no function based on limited evidence in heterozygous patients and in vitro studies. A clinical study of 1 heterozygous carrier of *31 showed markedly decreased high-dose methotrexate clearance compared to wildtype, slower than a *5/*5 patient (22147369). In vitro uptake was severely diminished compared to wildtype (22147369). Computational activity predictions support the in vitro and in vivo data (22147369).	{"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
779348	292	SLCO1B1	*36	\N	Uncertain function	\N	\N	779347	{22147369}	Inadequate	\N	SLCO1B1*35 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": 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	286	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
1002696	286	SLCO1B1	*42	\N	Uncertain function	\N	\N	1002695	{33658230}	Inadequate	\N	SLCO1B1*42 is assigned uncertain function based on limited in vitro evidence. It contains two variants, rs2306283 and rs141467543. One in vitro study found normal protein expression and transport for the rs141467543 variant (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002702	286	SLCO1B1	*45	\N	Unknown function	\N	\N	1002701	{22232210}	Inadequate	\N	SLCO1B1*45 results in a premature stop codon and has been implicated in Rotor syndrome (22232210). However, *45 is assigned uncertain function based on no in vitro evidence and clinical data describing drug metabolism. 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
779417	292	TPMT	*11	\N	No function	\N	\N	779416	{18708949,12835738,16220112}	\N	\N	\N	{"Latino": null, "European": 0.00024325753, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779419	292	TPMT	*12	\N	Uncertain function	\N	\N	779418	{18708949,13679074,27564568,16220112}	\N	\N	\N	{"Latino": 0.00008733, "European": null, "East Asian": 0.0000531, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779421	292	TPMT	*13	\N	Uncertain function	\N	\N	779420	{18708949,13679074,16220112}	\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
779423	292	TPMT	*14	\N	No function	\N	\N	779422	{18708949,15083071}	\N	\N	\N	{"Latino": null, "European": 0.0, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
779425	292	TPMT	*15	\N	No function	\N	\N	779424	{15083071}	\N	\N	\N	{"Latino": 0.0, "European": 0.000045666697, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779427	292	TPMT	*16	\N	Uncertain function	\N	\N	779426	{18708949,15652243,25564374,15226673}	\N	\N	\N	{"Latino": 0.00005819, "European": 0.0010142878, "East Asian": 0.00020803267, "Near Eastern": null, "Central/South Asian": 0.0005212, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779429	292	TPMT	*17	\N	Uncertain function	\N	\N	779428	{18708949,15226673}	\N	\N	\N	{"Latino": null, "European": 0.00040, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779431	292	TPMT	*18	\N	Uncertain function	\N	\N	779430	{18708949,15226673}	\N	\N	\N	{"Latino": 0.0, "European": 0.000011514104, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779433	292	TPMT	*19	\N	Uncertain function	\N	\N	779432	{18708949,15652243}	\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
779435	292	TPMT	*20	\N	Uncertain function	\N	\N	779434	{18708949,16917910}	\N	\N	\N	{"Latino": 0.0, "European": 0.00005133778, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779437	292	TPMT	*21	\N	Uncertain function	\N	\N	779436	{18708949,18602085,16917910}	\N	\N	\N	{"Latino": 0.0, "European": 0.00005822823, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779439	292	TPMT	*22	\N	Uncertain function	\N	\N	779438	{18708949,16917910}	\N	\N	\N	{"Latino": null, "European": 0.0, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779441	292	TPMT	*23	\N	No function	\N	\N	779440	{17885628,18708949}	\N	\N	\N	{"Latino": 0.0, "European": 0.000026239319, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779443	292	TPMT	*24	\N	Uncertain function	\N	\N	779442	{18602085,18708949}	\N	\N	\N	{"Latino": 0.001137, "European": 0.000026354577, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0328}	f
779445	292	TPMT	*25	\N	Uncertain function	\N	\N	779444	{18602085}	\N	\N	\N	{"Latino": null, "European": 0.00010, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779447	292	TPMT	*26	\N	Uncertain function	\N	\N	779446	{19660010}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0003479, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779449	292	TPMT	*27	\N	Uncertain function	\N	\N	779448	{19945438}	\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
779393	292	TPMT	*1	\N	Normal function	\N	\N	779392	{}	\N	\N	\N	{"Latino": 0.94345534, "European": 0.9534313, "East Asian": 0.979625, "Near Eastern": 0.96561086, "Central/South Asian": 0.9813701, "Sub-Saharan African": 0.9214915, "African American/Afro-Caribbean": 0.92341334}	t
110054	115	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
1932994	104	CYP2C9	*80	\N	\N	\N	\N	1932993	\N	\N	\N	\N	\N	f
3318602	91	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
778241	172	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
778239	172	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
3318600	91	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	109	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
777265	314	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
777263	194	CACNA1S	Reference	\N	Normal function	\N	\N	777262	{}	\N	\N	\N	\N	f
5409120	10	CYP2D6	*176	\N	\N	\N	\N	5409119	\N	\N	\N	\N	\N	f
777310	192	CFTR	2789+5G->A	\N	ivacaftor responsive	\N	\N	777309	{}	\N	ACMG screening panel	\N	\N	f
2899155	103	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
779097	103	NUDT15	*17	\N	\N	\N	\N	779096	\N	\N	\N	\N	\N	f
779103	103	NUDT15	*20	\N	\N	\N	\N	779102	\N	\N	\N	\N	\N	f
5881977	2	NUDT15	*21	\N	\N	\N	\N	5881976	\N	\N	\N	\N	\N	f
779065	294	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
2677040	93	CYP2D6	*164	\N	\N	\N	\N	2677039	\N	\N	\N	\N	\N	f
2677052	93	CYP2D6	*170	\N	\N	\N	\N	2677051	\N	\N	\N	\N	\N	f
2677042	93	CYP2D6	*165	\N	\N	\N	\N	2677041	\N	\N	\N	\N	\N	f
2677044	93	CYP2D6	*166	\N	\N	\N	\N	2677043	\N	\N	\N	\N	\N	f
2677046	93	CYP2D6	*167	\N	\N	\N	\N	2677045	\N	\N	\N	\N	\N	f
2677048	93	CYP2D6	*168	\N	\N	\N	\N	2677047	\N	\N	\N	\N	\N	f
2677050	93	CYP2D6	*169	\N	\N	\N	\N	2677049	\N	\N	\N	\N	\N	f
3318540	67	CYP2D6	*172	\N	\N	\N	\N	3318539	\N	\N	\N	\N	\N	f
5175553	14	CYP2D6	*174	\N	\N	\N	\N	5175552	\N	\N	\N	\N	\N	f
5175555	14	CYP2D6	*175	\N	\N	\N	\N	5175554	\N	\N	\N	\N	\N	f
5763833	4	CYP2D6	*177	\N	\N	\N	\N	5763832	\N	\N	\N	\N	\N	f
778145	309	CYP2D6	*113	\N	Uncertain function	\N	n/a	778144	{31368850}	Inadequate	\N	CYP2D6*113 is assigned uncertain function. CYP2D6*113 is defined by a SNP which in silico studies predict to be a deleterious amino acid change (31368850). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.008, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777679	314	CYP2C9	*6	No function	No function	\N	0.0	777678	{23752738,15289788,11740344,16220110,17895500,21811894,15094935}	Strong	\N	CYP2C9*6 is assigned no function based on strong supporting evidence in heterozygous and homozygous patients. This allele was first identified in a CYP2C9*6/*6 patient experiencing phenytoin toxicity after recently starting the medication. Based on serial phenytoin plasma concentrations after discontinuing phenytoin, the patient had an estimated 17% phenytoin clearance compared to wildtype (11740344). In a separate case report, a patient with CYP2C9*6/*6 genotype stable on a low weekly warfarin dose demonstrated impaired warfarin metabolism with an S:R warfarin ratio 6x greater than expected (15094935). The S:R warfarin ratio of this patient was the highest among 52 patients on a stable dose of warfarin with a CYP2C9 genotype of *1/*1, *1/*2, *1/*3, *2/*2, or *2/*3 (17895500). Two subjects (CYP2C9*1/*6 and CYP2C9*5/*6 genotype, respectively) had decreased losartan metabolism compared to wildtype subjects based on urinary metabolites after a single 25mg dose (15289788). Three CYP2C9*1/*6 subjects and one CYP2C9*5/*6 subjects 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). CYP2C9*6 is defined by a deletion resulting in a frameshift and not included in in vitro studies as it is it is a null allele resulting in no protein formation (23752738). Although one CYP2C9*1/*6 subject had a similar acenocoumarol metabolite plasma concentration compared to wildtype subjects 8 and 24 hours after a single 8mg dose (21811894), the experts did not deem this result as convincing conflicting evidence based on the small sample size. Therefore, consensus among experts was no function with an activity value of 0 based on strong evidence.	{"Latino": 0.0009750473, "American": 0.0, "European": 0.00028025627, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.008801762, "African American/Afro-Caribbean": 0.008521383}	f
2677014	93	CYP2D6	*151	\N	\N	\N	\N	2677013	\N	\N	\N	\N	\N	f
777685	314	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
2784573	120	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	120	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	120	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	120	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	91	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	91	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	91	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	91	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	91	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	91	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	91	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	53	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
777705	314	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
777707	314	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	314	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	103	NUDT15	*16	\N	\N	\N	\N	779094	\N	\N	\N	\N	\N	f
777717	314	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
777719	314	CYP2C9	*26	Decreased function	Decreased function	\N	0.5	777718	{23752738,19541829,16788382}	Limited	\N	CYP2C9*26 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*26 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
777721	314	CYP2C9	*27	Uncertain function	Uncertain function	\N	n/a	777720	{23752738,16788382,23844998,24118918,25142737,25144335,25951663,25476996,25614704,25832633,25884291,25924705,27163851,24077631}	Inadequate evidence	\N	CYP2C9*27 is assigned uncertain function due to inadequate evidence. One subject with CYP2C9 *1/*27 genotype exhibited similar clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). In vitro studies showed conflicting results with CYP2C9*27 exhibiting enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24118918, 23844998, 25476996, 25832633, 24077631, 25144335, 25951663, 23752738, 16788382, 25884291, 25614704, 25924705, 27163851, 25142737). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0016176943, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777723	314	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
779042	51	IFNL3	rs12979860 reference (C)	\N	\N	\N	\N	779041	\N	\N	\N	\N	\N	t
779044	51	IFNL3	rs12979860 variant (T)	\N	\N	\N	\N	779043	\N	\N	\N	\N	\N	f
777727	314	CYP2C9	*30	Decreased function	Decreased function	\N	0.5	777726	{23752738,19541829,16788382}	Limited	\N	CYP2C9*30 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*30 demonstrated decreased clearance compared to wildtype. These studies used different cell systems and substrates included warfarin, tolbutamide, diclofenac, losartan, and glimepiride (23752738, 19541829, 16788382). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0015598785, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779083	103	NUDT15	*10	\N	\N	\N	\N	779082	\N	\N	\N	\N	\N	f
777739	314	CYP2C9	*36	Uncertain function	Uncertain function	\N	n/a	777738	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*36 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*36 demonstrated enzyme activity ranging from markedly decreased to markedly increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778219	307	CYP3A5	*1	\N	Normal function	\N	\N	778218	{12893984}	\N	\N	12893984: testosterone, nifedipine (in vitro)	{"Latino": 0.17279238, "European": 0.07410407, "East Asian": 0.25355196, "Near Eastern": 0.121941924, "Central/South Asian": 0.32672024, "Sub-Saharan African": 0.47940862, "African American/Afro-Caribbean": 0.4528548}	t
778223	307	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	306	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
777741	314	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
2677012	93	CYP2D6	*150	\N	\N	\N	\N	2677011	\N	\N	\N	\N	\N	f
777751	314	CYP2C9	*42	No function	No function	\N	0.0	777750	{24077631,24118918,25142737,25144335,25476996,25614704,25832633,25951663,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*42 is assigned no function based on limited evidence in one heterozygous patient and in vitro studies. One subject with CYP2C9*1/*42 genotype exhibited twice the AUC and less than half the oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). Multiple in vitro studies found CYP2C9*42 demonstrated markedly decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 25924705, 27163851, 23844998, 25614704). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.00010, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.01, "Near Eastern": 0.00054534996, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777753	314	CYP2C9	*43	No function	No function	\N	0.0	777752	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,27163851,23844998}	Limited	\N	CYP2C9*43 is assigned no function based on limited evidence in in vitro studies. Multiple in vitro studies found CYP2C9*43 demonstrated markedly decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 27163851, 23844998). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00010, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777755	314	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
777757	314	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
777761	314	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	307	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	306	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	314	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	314	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	314	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	158	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	158	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	306	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	296	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	294	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	314	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
777807	296	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	296	CYP2C9	*71	Uncertain function	Uncertain function	\N	n/a	777808	{}	Inadequate evidence	\N	CYP2C9*71 is assigned uncertain function due to limited literature describing function of this allele. This allele has the same variants as *10 (uncertain function) and *12 (decreased function) but no literature supporting the function for *71. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1406316	296	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
777308	192	CFTR	ivacaftor non-responsive CFTR sequence	\N	ivacaftor non-responsive	\N	\N	777307	{}	\N	\N	\N	\N	f
777312	192	CFTR	3272-26A->G	\N	ivacaftor responsive	\N	\N	777311	{}	\N	\N	\N	\N	f
777314	192	CFTR	3849+10kbC->T	\N	ivacaftor responsive	\N	\N	777313	{}	\N	ACMG screening panel	\N	\N	f
777316	192	CFTR	711+3A->G	\N	ivacaftor responsive	\N	\N	777315	{}	\N	ACMG screening panel	\N	\N	f
777318	192	CFTR	A1067T	\N	ivacaftor responsive	\N	\N	777317	{}	\N	\N	\N	\N	f
777320	192	CFTR	A455E	\N	ivacaftor responsive	\N	\N	777319	{}	\N	ACMG screening panel	\N	\N	f
777322	192	CFTR	D110E	\N	ivacaftor responsive	\N	\N	777321	{}	\N	\N	\N	\N	f
777324	192	CFTR	D110H	\N	ivacaftor responsive	\N	\N	777323	{}	\N	\N	\N	\N	f
777326	192	CFTR	D1152H	\N	ivacaftor responsive	\N	\N	777325	{}	\N	\N	\N	\N	f
777328	192	CFTR	D1270N	\N	ivacaftor responsive	\N	\N	777327	{}	\N	\N	\N	\N	f
777330	192	CFTR	D579G	\N	ivacaftor responsive	\N	\N	777329	{}	\N	\N	\N	\N	f
777332	192	CFTR	E193K	\N	ivacaftor responsive	\N	\N	777331	{}	\N	\N	\N	\N	f
777334	192	CFTR	E56K	\N	ivacaftor responsive	\N	\N	777333	{}	\N	\N	\N	\N	f
777336	192	CFTR	E831X	\N	ivacaftor responsive	\N	\N	777335	{}	\N	\N	\N	\N	f
777338	192	CFTR	F1052V	\N	ivacaftor responsive	\N	\N	777337	{}	\N	\N	\N	\N	f
777340	192	CFTR	F1074L	\N	ivacaftor responsive	\N	\N	777339	{}	\N	\N	\N	\N	f
777342	192	CFTR	G1069R	\N	ivacaftor responsive	\N	\N	777341	{}	\N	\N	\N	\N	f
777344	192	CFTR	G1244E	\N	ivacaftor responsive	\N	\N	777343	{}	\N	\N	\N	\N	f
777346	192	CFTR	G1349D	\N	ivacaftor responsive	\N	\N	777345	{}	\N	\N	\N	\N	f
777348	192	CFTR	G178R	\N	ivacaftor responsive	\N	\N	777347	{}	\N	\N	\N	\N	f
777350	192	CFTR	G551D	\N	ivacaftor responsive	\N	\N	777349	{}	\N	ACMG screening panel	\N	\N	f
777352	192	CFTR	G551S	\N	ivacaftor responsive	\N	\N	777351	{}	\N	\N	\N	\N	f
777354	192	CFTR	K1060T	\N	ivacaftor responsive	\N	\N	777353	{}	\N	\N	\N	\N	f
777356	192	CFTR	L206W	\N	ivacaftor responsive	\N	\N	777355	{}	\N	\N	\N	\N	f
777358	192	CFTR	P67L	\N	ivacaftor responsive	\N	\N	777357	{}	\N	\N	\N	\N	f
777360	192	CFTR	R1070Q	\N	ivacaftor responsive	\N	\N	777359	{}	\N	\N	\N	\N	f
777362	192	CFTR	R1070W	\N	ivacaftor responsive	\N	\N	777361	{}	\N	\N	\N	\N	f
777364	192	CFTR	R117C	\N	ivacaftor responsive	\N	\N	777363	{}	\N	\N	\N	\N	f
777366	192	CFTR	R117H	\N	ivacaftor responsive	\N	\N	777365	{}	\N	ACMG screening panel	\N	\N	f
777368	192	CFTR	R347H	\N	ivacaftor responsive	\N	\N	777367	{}	\N	\N	\N	\N	f
777370	192	CFTR	R352Q	\N	ivacaftor responsive	\N	\N	777369	{}	\N	\N	\N	\N	f
777372	192	CFTR	R74W	\N	ivacaftor responsive	\N	\N	777371	{}	\N	\N	\N	\N	f
777374	192	CFTR	S1251N	\N	ivacaftor responsive	\N	\N	777373	{}	\N	\N	\N	\N	f
777376	192	CFTR	S1255P	\N	ivacaftor responsive	\N	\N	777375	{}	\N	\N	\N	\N	f
777378	192	CFTR	S549N	\N	ivacaftor responsive	\N	\N	777377	{}	\N	\N	\N	\N	f
777380	192	CFTR	S549R(A>C)	\N	ivacaftor responsive	\N	\N	777379	{}	\N	\N	\N	\N	f
777382	192	CFTR	S549R(T>G)	\N	ivacaftor responsive	\N	\N	777381	{}	\N	\N	\N	\N	f
777384	192	CFTR	S945L	\N	ivacaftor responsive	\N	\N	777383	{}	\N	\N	\N	\N	f
777386	192	CFTR	S977F	\N	ivacaftor responsive	\N	\N	777385	{}	\N	\N	\N	\N	f
777423	314	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	314	CYP2B6	*10	\N	Uncertain function	\N	\N	777440	{21746968,30201214}	Inadequate	\N	CYP2B6*10 (c.62A>T, p.Q21L and c.64C>T, p.R22C) - Uncertain function: CYP2B6*10 is assigned uncertain function. In vitro studies using cDNA expression systems (21746968, 30201214) demonstrated decreased enzyme activity compared to the *1 reference. However, consensus among experts was uncertain function based on inadequate evidence as it could not be determined if diplotypes containing this allele would be phenotypically distinct from diplotypes comprising two normal function alleles.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777461	314	CYP2B6	*21	No or decreased function	Uncertain function	\N	\N	777460	{16272958,20517174,21746968,30201214}	Inadequate	\N	CYP2B6*21 (c.1282C>A, p.P428T) – Uncertain function: CYP2B6*21 is assigned uncertain function. In vitro studies using cDNA expression systems found no or severely decreased enzyme activity for CYP2B6*21 (20517174, 21746968, 16272958, 30201214). However, there was no in vivo data available or data in human liver microsomes. Therefore, the consensus among experts was uncertain function based on inadequate evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0127297295, "African American/Afro-Caribbean": 0.0}	f
779479	103	TPMT	*42	\N	\N	\N	\N	779478	\N	\N	\N	\N	\N	f
779451	292	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	314	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	314	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
777429	314	CYP2B6	*4	Increased function	Increased function	\N	\N	777428	{12642465,14515060,17015050,17235330,21659470,21746968,21821736,21976622,23254426,23399569,25934575,26389554,29637923,30085944,30906561,31324697,32238417,35538637}	Moderate	\N	CYP2B6*4 (c.785A>G, p.K262R) - Increased function: CYB2B6*4 is assigned increased function based on in vivo (heterozygous patients only) and in vitro studies. In clinical studies, CYP2B6*4 heterozygotes had significantly increased metabolism of several substrates such as bupropion (14515060, 29637923), nicotine (17015050) and efavirenz (17235330). Numerically higher methadone clearance was observed in CYP2B6*4 carriers, albeit samples sizes were small (26389554, 35538637). Although two studies did not find increased efavirenz clearance compared to the *1 reference (23399569, 23254426), the experts did not find these results convincing due to the small sample size. Multiple in vitro studies using cDNA expression systems showed that CYP2B6*4 has increased activity compared to the *1 reference towards efavirenz, methadone, bupropion nicotine, artemether and selegiline, (12642465, 21746968, 21821736, 31324697, 32238417). One in vitro study using cDNA expression system showed no difference in activity using bupropion as a probe (21659470), but the experts did not find this evidence convincing. Some studies found CYP2B6*4 had less activity compared to the *1 reference towards ketamine, nicotine, cyclophosphamide and ifosphamide (21821736, 21976622, 25934575, 30085944, 30906561). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Therefore, consensus among experts was increased function based on moderate evidence, but effects may be substrate-dependent.	{"Latino": 0.10623067, "European": 0.040871028, "Oceanian": 0.0, "East Asian": 0.0841915, "Near Eastern": 0.104, "Central/South Asian": 0.099, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.010298969}	f
777445	314	CYP2B6	*12	No function	No function	\N	\N	777444	{15190123,20517174,21746968,30201214}	Limited	\N	CYP2B6*12 (c.296G>A, p.G99E) - No function: CYB2B6*12 is assigned no function. Multiple in vitro studies using human liver microsomes (15190123) and cDNA expression systems (20517174, 21746968, 30201214) found that CYP2B6*12 has no protein expression or enzyme activity compared to the *1 reference with various substrates. Therefore, consensus among experts was no function based on limited evidence.	{"Latino": 0.000541036, "European": 0.00006630849, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777465	313	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	292	TPMT	*29	\N	No function	\N	\N	779452	{22447118}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0002899, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779069	294	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	294	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	314	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	314	CYP2C19	*18	\N	Normal function	\N	\N	777566	{17455109,18312490,21325430,25001882}	Limited	\N	CYP2C19*18 is assigned normal function based on limited evidence. Four in vitro studies found CYP2C19*18 demonstrated similar intrinsic clearance compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (17455109, 18312490, 25001882, 21325430). Therefore, consensus among experts was normal function based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.019867808, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777535	314	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	314	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	314	CYP2C19	*29	\N	Uncertain function	\N	\N	777582	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*29 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*29 demonstrated modest decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and voriconazole substrates (26153442, 30464555). One in vitro study found increased clearance relative to wild-type for nebivolol (29098786). Consensus was not achieved among experts as data were sparse and conflicting and it was not convincing the magnitude of decreased activity was clinically significant. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00017527216, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777533	314	CYP2C19	*1	\N	Normal function	\N	\N	777532	{7487078,32602114,22027650,29325448,33237321}	Definitve	\N	CYP2C19*1 is assigned normal function based on definitive evidence. CYP2C19*1 has been studied for more than 20 years and is the most frequently observed allele (7487078, 32602114). CYP2C19*1 has repeatedly demonstrated normal function with numerous substrates and its association with normal function is well-established (22027650, 29325448, 33237321).	{"Latino": 0.7165527, "American": 0.7921841, "European": 0.62514144, "Oceanian": 0.18709892, "East Asian": 0.59554905, "Near Eastern": 0.67225105, "Central/South Asian": 0.543626, "Sub-Saharan African": 0.55150676, "African American/Afro-Caribbean": 0.54676163}	t
779455	292	TPMT	*30	\N	Unknown function	\N	\N	779454	{23407052,16946561}	\N	\N	\N	{"Latino": 0.0001489, "European": 0.000014929322, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777601	297	CYP2C19	*39	\N	Uncertain function	\N	\N	777600	{21692664,21325430}	Inadequate	\N	CYP2C19*39 is assigned uncertain function due to inadequate data. Currently, there is no published evidence describing the function of the CYP2C19*39 allele. One in vitro study for 12718A>C (E122A) determined the metabolic activities towards CEC(3-cyano-7-ethoxycoumarin) O-deethylation and concluded decreased function for this variant (21692664) and another study found the Clint for S-mephenytoin is not significantly different and for omeprazole decreased to 0.27 fold compared to no variant (21325430). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5175551	14	CYP2D6	*173	\N	\N	\N	\N	5175550	\N	\N	\N	\N	\N	f
1932986	104	CYP2C9	*76	\N	\N	\N	\N	1932985	\N	\N	\N	\N	\N	f
1932988	104	CYP2C9	*77	\N	\N	\N	\N	1932987	\N	\N	\N	\N	\N	f
1932990	104	CYP2C9	*78	\N	\N	\N	\N	1932989	\N	\N	\N	\N	\N	f
1932992	104	CYP2C9	*79	\N	\N	\N	\N	1932991	\N	\N	\N	\N	\N	f
1932998	104	CYP2C9	*82	\N	\N	\N	\N	1932997	\N	\N	\N	\N	\N	f
1932996	104	CYP2C9	*81	\N	\N	\N	\N	1932995	\N	\N	\N	\N	\N	f
777669	313	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
777681	314	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	314	CYP2C9	*10	Uncertain function	Uncertain function	\N	n/a	777686	{23752738,28758225,15284535}	Inadequate evidence	\N	CYP2C9*10 is assigned uncertain function based on conflicting in vitro data and no clinical data. Although CYP2C9*10 demonstrated decreased warfarin clearance (23752738) it also demonstrated similar activity with a tolbutamide substrate (15284535) and activity ranging from decreased to normal with 7-ethoxycoumarin, flavanone, and steroid substrates (28758225) compared to wildtype. Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779457	292	TPMT	*31	\N	Uncertain function	\N	\N	779456	{23407052,20881512}	\N	\N	\N	{"Latino": 0.0, "European": 0.0000074631716, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777781	314	CYP2C9	*57	Unknown function	Unknown function	\N	n/a	777780	{}	No evidence	\N	CYP2C9*57 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779459	292	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
777671	314	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
777673	314	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	104	CYP2C9	*83	\N	\N	\N	\N	1932999	\N	\N	\N	\N	\N	f
1933002	104	CYP2C9	*84	\N	\N	\N	\N	1933001	\N	\N	\N	\N	\N	f
1933004	104	CYP2C9	*85	\N	\N	\N	\N	1933003	\N	\N	\N	\N	\N	f
779461	292	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	309	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	313	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	105	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	292	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	292	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	105	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	292	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	105	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	216	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	216	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	214	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	214	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
2091241	214	CYP2D6	*154	\N	Uncertain function	\N	n/a	2091240	{}	Inadequate	\N	CYP2D6*154 is assigned uncertain function due to inadequate evidence. CYP2D6*154 is defined by the three SNPs defining the decreased function *17 allele and one additional SNP that defines *75 which is classified as uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
778332	307	DPYD	c.61C>T	No function	No function	\N	0.0	778331	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778330	307	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	307	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	301	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	301	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	301	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	301	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	301	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	301	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	301	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	301	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
778328	187	DPYD	Reference	Normal function	Normal function	\N	1.0	778327	{38129972}	\N	\N	Individual patients have been reported (PMID 38129972) to carry only one of the two SNPs in the HapB3 haplotype (i.e., c.1236G>A without c.1129-5923C>G), suggesting that the two variants are not in complete linkage disequilibrium. To address this, c.1129-5923C>G SNP is listed separately as this is likely the causal variant leading to decreased function. The HapB3 haplotype definition was also retained for cases where only the c.1236G>A variant is tested (e.g. whole exome sequencing). While CPIC recommends to directly test the causal SNP if possible, in cases where only c.1236G>A is tested or results are available for, it should be clearly stated in the test report that "decreased function" was inferred by detecting the exonic tag SNP, and disclose that in rare cases, the causal decreased function variant c.1129-5923C>G may not be present despite having this tag SNP.	\N	f
778456	295	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	295	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	295	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	295	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	295	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	295	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	295	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	295	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	295	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	295	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	295	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	295	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	295	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	266	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	266	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	266	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	266	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	266	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	187	MT-RNR1	Reference	\N	Normal risk of aminoglycoside-induced hearing loss	\N	\N	828095	{27654872}	\N	\N	27654872: N/A	\N	f
3827893	87	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	87	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	103	NUDT15	*18	\N	\N	\N	\N	779098	\N	\N	\N	\N	\N	f
779101	103	NUDT15	*19	\N	\N	\N	\N	779100	\N	\N	\N	\N	\N	f
3827895	87	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	87	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	87	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	294	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	294	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	294	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	294	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	294	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	292	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	105	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	105	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	105	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	105	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	293	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	105	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	105	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	187	RYR1	Reference	Benign	Normal function	\N	n/a	779148	{}	\N	\N	\N	\N	f
3685629	105	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	105	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	105	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	293	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	105	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	105	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	293	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	105	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	105	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	105	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	293	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	293	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	105	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	105	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
3685657	105	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
3685659	105	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
3685665	105	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	293	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
779219	293	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
3685677	105	RYR1	c.7373G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685676	{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
3685681	105	RYR1	c.7487C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685680	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": 0.0003857, "Near Eastern": 0.001152, "Central/South Asian": 0.000207, "Sub-Saharan African": 0.00002413}	f
779223	293	RYR1	c.7522C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779222	{33767344}	\N	\N	PS3_St, 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
3685689	105	RYR1	c.7528T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685688	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685693	105	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
3685697	105	RYR1	c.7777C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685696	{35849058}	\N	\N	None	{"Latino": 0.00006607, "American": null, "European": 0.00001475, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685701	105	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
3685707	105	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
3685709	105	RYR1	c.8005G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685708	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685713	105	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
3685717	105	RYR1	c.8189A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685716	{35849058}	\N	\N	PS4_Sup, PP1_St	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685721	105	RYR1	c.8290G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685720	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685725	105	RYR1	c.8360C>G	Benign	Normal function	\N	n/a	3685724	{35849058}	\N	\N	BA1	{"Latino": 0.002814, "American": null, "European": 0.0004409, "East Asian": null, "Near Eastern": 0.01152, "Central/South Asian": 0.0004144, "Sub-Saharan African": 0.02895}	f
3685729	105	RYR1	c.8527T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685728	{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
3685733	105	RYR1	c.8638G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685732	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685737	105	RYR1	c.8729C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685736	{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
3685741	105	RYR1	c.9152G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685740	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": 0.004323, "Central/South Asian": null, "Sub-Saharan African": 0.00002416}	f
779229	293	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
3685749	105	RYR1	c.9499C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685748	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685753	105	RYR1	c.9649T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685752	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685763	105	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	105	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
3685771	105	RYR1	c.10043G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685770	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685775	105	RYR1	c.10100A>G	Likely Benign	Normal function	\N	n/a	3685774	{35849058}	\N	\N	BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685779	105	RYR1	c.10237A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685778	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685783	105	RYR1	c.10556C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685782	{33767344}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685787	105	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
3685791	105	RYR1	c.10891G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685790	{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
3685795	105	RYR1	c.11120G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685794	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685799	105	RYR1	c.11132C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685798	{35849058}	\N	\N	PS4_Sup, PP1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685805	105	RYR1	c.11314C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685804	{33767344}	\N	\N	PS4_Sup, PM5_Sup, PP3_Mod	{"Latino": 0.00006547, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685807	105	RYR1	c.11416G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685806	{35849058}	\N	\N	PS4_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
3685811	105	RYR1	c.11708G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685810	{35849058}	\N	\N	PS4, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685815	105	RYR1	c.11748T>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685814	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685819	105	RYR1	c.11813G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685818	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685823	105	RYR1	c.11953T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685822	{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
779231	293	RYR1	c.11969G>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779230	{33767344}	\N	\N	PS3_Mod, PS4, PP1_St	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685831	105	RYR1	c.12064A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685830	{35849058}	\N	\N	BP4	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685835	105	RYR1	c.12121C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685834	{35849058}	\N	\N	BP4	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685839	105	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
3685843	105	RYR1	c.12355A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685842	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.00002941, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685847	105	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
3685851	105	RYR1	c.12413T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685850	{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
3685859	105	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
3685863	105	RYR1	c.12700G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685862	{35849058}	\N	\N	PS1_Mod, PS4_Mod, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685867	105	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
3685873	105	RYR1	c.13513G>C	Benign	Normal function	\N	n/a	3685872	{33767344}	\N	\N	BA1	{"Latino": 0.0019, "American": null, "European": 0.0050225807, "East Asian": null, "Near Eastern": 0.004899, "Central/South Asian": 0.00207, "Sub-Saharan African": 0.001231}	f
3685875	105	RYR1	c.13673G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685874	{33767344}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": 0.00002941, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685881	105	RYR1	c.13760C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685880	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00005879, "East Asian": null, "Near Eastern": 0.0002884, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685885	105	RYR1	c.13918A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685884	{33767344}	\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
3685889	105	RYR1	c.13990T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685888	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": 0.00001481, "East Asian": null, "Near Eastern": 0.0005784, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685893	105	RYR1	c.14002C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685892	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": 0.00009414, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685897	105	RYR1	c.14126C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685896	{33767344}	\N	\N	PM1_Sup, PP3_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": 0.0001928, "Near Eastern": 0.001442, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685901	105	RYR1	c.14186A>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685900	{35849058}	\N	\N	PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685903	105	RYR1	c.14197T>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685902	{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
3685907	105	RYR1	c.14209C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685906	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5_Sup, PP1, PP3_Mod	{"Latino": null, "American": null, "European": 0.00002941, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685911	105	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	293	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	105	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	105	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
3685925	105	RYR1	c.14471T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685924	{35849058}	\N	\N	PS4_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
779235	293	RYR1	c.14477C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779234	{33767344}	\N	\N	PS3, PS4, 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
3685933	105	RYR1	c.14509C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685932	{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
779239	293	RYR1	c.14512C>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779238	{33767344}	\N	\N	PS3_Sup, PS4_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
3685939	105	RYR1	c.14539G>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685938	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PP1_St	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685943	105	RYR1	c.14558C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685942	{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
3685945	105	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	105	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	293	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	105	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	105	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	105	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	105	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
779245	293	RYR1	c.14693T>C	Variant of uncertain significance	Uncertain function	\N	n/a	779244	{}	\N	\N	PM1_Sup, PP3_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685961	105	RYR1	c.14782A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685960	{35849058}	\N	\N	PM1_Sup	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685963	105	RYR1	c.14803G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685962	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685965	105	RYR1	c.14813T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685964	{35849058}	\N	\N	PS3_Mod, PS4_Sup, PM1_Sup, PP3_Mod, BS2_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685967	105	RYR1	c.14814C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685966	{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
3685969	105	RYR1	c.14817C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685968	{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
3685971	105	RYR1	c.14818G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685970	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685973	105	RYR1	c.14825G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685972	{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
3685975	105	RYR1	c.14879T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685974	{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
3685977	105	RYR1	c.14918C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685976	{33767344}	\N	\N	PS4_Mod, PM1_Sup, PP3_Mod, PP1_Sup	{"Latino": null, "American": null, "European": 0.0000441, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
3685979	105	RYR1	c.14968A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685978	{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
3685981	105	RYR1	c.15059G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685980	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685983	105	RYR1	c.15060G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685982	{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
779332	292	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	293	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
779282	293	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
779284	292	SLCO1B1	*4	\N	Uncertain function	\N	\N	779283	{11477075,12490595,33658230}	Inadequate	\N	SLCO1B1*4 is assigned uncertain function based on in vitro studies demonstrating unaltered uptake of estrone sulfate, estradiol 17beta-d-glucuronide and rifampin (11477075, 12490595) and normal protein expression (33658230), 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
779286	293	SLCO1B1	*5	\N	No function	\N	\N	779285	{11477075,32961594,21245207}	Definitive	\N	SLCO1B1*5 is assigned no function based on definitive evidence in heterozygous and SLCO1B1*5/*15 compound heterozygote individuals. The plasma levels of highly sensitive OATP1B1 endogenous substrates GCDCA-3G and GDCA-3G are significantly higher in SLCO1B1*1/*5 and SLCO1B1*5/*15 heterozygotes than in individuals with the SLCO1B1*1/*1 homozygotes (32961594). In vitro studies have demonstrated significantly reduced uptake of estrone sulfate and estradiol 17beta-d-glucuronide (11477075), and several other substrates compared to SLCO1B1*1 (21245207).Therefore, consensus among experts was no function on definitive evidence.	{"American": 0.0, "European": 0.02040433, "Oceanian": 0.0, "East Asian": 0.0010003184, "Near Eastern": 0.05, "Central/South Asian": 0.004471154, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
1002624	286	SLCO1B1	*1	\N	Normal function	\N	\N	1002623	{10601278,10644574,10358072,12811365,15116054,15226675,21245207,32961594}	Definitive	\N	SLCO1B1*1 is the reference allele, associated with normal OATP1B1 activity based on a large number of in vitro (10601278, 10644574, 10358072) and clinical data (12811365, 15116054, 15226675, 21245207, 32961594).	{"American": 0.37, "European": 0.4027496, "Oceanian": 0.33999997, "East Asian": 0.25522262, "Near Eastern": 0.49, "Central/South Asian": 0.46972018, "Sub-Saharan African": 0.17130345, "African American/Afro-Caribbean": 0.23000002}	t
779288	293	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
779290	292	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
779292	292	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
779294	293	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
779296	293	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	275	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
779306	292	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
779308	292	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
779314	292	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
779316	292	SLCO1B1	*20	Increased function	Increased function	\N	\N	779315	{15226675,22147369,23311897,32961594}	Limited	\N	SLCO1B1*20 is assigned increased function based on limited in vitro evidence and limited clinical data. Small clinical studies of pravastatin and atorvastatin showed similar pharmacokinetic parameters to subjects with wildtype alleles (15226675, 23311897). One clinical study found significantly increased methotrexate clearance (22147369). The plasma levels of highly sensitive OATP1B1 endogenous substrate GCDCA-3G are significantly lower in *14 carriers than in individuals with the SLCO1B1*1/*1 diplotype (32961594). Therefore, consensus among experts was increased function due to inadequate evidence.	{"American": null, "European": 0.037392758, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779322	293	SLCO1B1	*23	Decreased function	No function	\N	\N	779321	{22147369}	Limited	\N	SLCO1B1*23 is assigned no function based on limited evidence in heterozygous patients and in vitro studies. A clinical study of 1 heterozygous carrier of *23 showed markedly decreased high-dose methotrexate clearance compared to wildtype, slower than a *5/*5 patient (22147369). In vitro uptake was severely diminished compared to wildtype (22147369). Computational activity predictions support the in vitro and in vivo data (22147369).Therefore, consensus among experts was no function with limited evidence.	{"American": null, "European": 0.00010, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.00010, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779324	292	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
779326	292	SLCO1B1	*25	\N	Uncertain function	\N	\N	779325	{22147369}	Inadequate	\N	SLCO1B1*25 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
779328	292	SLCO1B1	*26	\N	Uncertain function	\N	\N	779327	{22147369,33658230}	Inadequate	\N	SLCO1B1*26 is assigned uncertain function based on limited in vitro evidence and clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369) and one in vitro study found normal protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": 0.00020, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.00030, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779330	292	SLCO1B1	*27	\N	Uncertain function	\N	\N	779329	{22147369,33658230}	Inadequate	\N	SLCO1B1*27 is assigned uncertain function based on limited in vitro evidence and clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369) and one in vitro study found normal protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779340	292	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
779342	292	SLCO1B1	*33	\N	Uncertain function	\N	\N	779341	{22147369,33658230}	Inadequate	\N	SLCO1B1*33 is assigned uncertain function based on limited in vitro evidence and clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369) and one in vitro study found decreased protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779344	292	SLCO1B1	*34	\N	Uncertain function	\N	\N	779343	{22147369,33658230}	Inadequate	\N	SLCO1B1*34 is assigned uncertain function based on limited in vitro evidence and clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369). One in vitro study found normal protein expression and transport (33658230). 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
1002686	286	SLCO1B1	*37	\N	Normal function	\N	\N	1002685	{32961594,32961019,11477075}	Strong	\N	SLCO1B1*37 is assigned normal function based on strong evidence in heterozygous and homozygous individuals. The plasma levels of highly sensitive OATP1B1 endogenous substrates GCDCA-3G, GDCA-3G and CPI are slightly and non-significantly lower in SLCO1B1*37 homozygotes (32961594, 32961019). In vitro studies have mostly demonstrated unaltered activity compared to SLCO1B1*1 (11477075).	{"American": 0.39, "European": 0.25273752, "Oceanian": 0.66, "East Asian": 0.6147381, "Near Eastern": 0.31, "Central/South Asian": 0.46023798, "Sub-Saharan African": 0.80076206, "African American/Afro-Caribbean": 0.76}	f
1002688	286	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
1002692	286	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
1002694	286	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
1002698	286	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
1002700	286	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
1002704	286	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	286	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	275	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
779395	292	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	292	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	292	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	292	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	292	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	292	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	292	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	292	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	292	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
779481	103	TPMT	*43	\N	\N	\N	\N	779480	\N	\N	\N	\N	\N	f
779483	103	TPMT	*44	\N	\N	\N	\N	779482	\N	\N	\N	\N	\N	f
779413	292	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	292	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
779471	292	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	292	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	292	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	292	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	293	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	293	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	293	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	292	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	292	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	292	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	292	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
779505	292	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
779489	294	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
777440	153	CYP2B6	*10	PV00748	f	f
777442	153	CYP2B6	*11	PV00749	f	f
777444	153	CYP2B6	*12	PV00750	f	f
777448	153	CYP2B6	*14	PV00752	f	f
777450	153	CYP2B6	*15	PV00753	f	f
777452	153	CYP2B6	*17	PV00755	f	f
777454	153	CYP2B6	*18	PV00756	f	f
777456	153	CYP2B6	*19	PV00757	f	f
777460	153	CYP2B6	*21	PV00759	f	f
777462	153	CYP2B6	*22	PV00760	f	f
777464	153	CYP2B6	*23	PV00761	f	f
777466	153	CYP2B6	*24	PV00762	f	f
777468	153	CYP2B6	*25	PV00763	f	f
777470	153	CYP2B6	*26	PV00764	f	f
777474	153	CYP2B6	*28	PV00766	f	f
777476	148	CYP2B6	*29	PV00767	f	t
777478	148	CYP2B6	*30	PV00770	f	t
777480	153	CYP2B6	*31	PV00771	f	f
777482	153	CYP2B6	*32	PV00772	f	f
777484	153	CYP2B6	*33	PV00848	f	f
777486	153	CYP2B6	*34	PV00774	f	f
777490	153	CYP2B6	*36	PV00776	f	f
777492	153	CYP2B6	*37	PV00777	f	f
777494	153	CYP2B6	*38	PV00778	f	f
777428	153	CYP2B6	*4	PV00742	f	f
2899154	67	CYP2B6	*45	PV02278	f	f
2899156	67	CYP2B6	*46	PV02280	f	f
2899158	67	CYP2B6	*47	PV02282	f	f
2899162	67	CYP2B6	*49	PV02286	f	f
777430	153	CYP2B6	*5	PV00743	f	f
777432	153	CYP2B6	*6	PV00744	f	f
777434	153	CYP2B6	*7	PV00745	f	f
777436	153	CYP2B6	*8	PV00746	f	f
777438	153	CYP2B6	*9	PV00747	f	f
777578	153	CYP2C19	*26	PV00621	f	f
777580	153	CYP2C19	*28	PV00622	f	f
777592	153	CYP2C19	*34	PV02143	f	f
777690	153	CYP2C9	*12	PV00548	f	f
777704	153	CYP2C9	*19	PV00555	f	f
777716	153	CYP2C9	*25	PV00561	f	f
777732	153	CYP2C9	*33	PV00569	f	f
777746	153	CYP2C9	*40	PV00576	f	f
777758	153	CYP2C9	*46	PV00582	f	f
777766	153	CYP2C9	*50	PV00586	f	f
777776	153	CYP2C9	*55	PV00591	f	f
777678	153	CYP2C9	*6	PV00542	f	f
777794	153	CYP2C9	*64	PV01419	f	f
777680	153	CYP2C9	*7	PV00543	f	f
1406321	123	CYP2C9	*75	PV01742	f	f
777682	153	CYP2C9	*8	PV00544	f	f
1933003	103	CYP2C9	*85	PV01798	f	f
777958	153	CYP2D6	*12	PV00437	f	f
778178	153	CYP2D6	*130	PV00685	f	f
778180	153	CYP2D6	*131	PV00686	f	f
778182	153	CYP2D6	*132	PV00687	f	f
778184	153	CYP2D6	*133	PV00688	f	f
778186	153	CYP2D6	*134	PV00689	f	f
778188	153	CYP2D6	*135	PV00690	f	f
778190	153	CYP2D6	*136	PV00691	f	f
778192	153	CYP2D6	*137	PV00692	f	f
778196	153	CYP2D6	*139	PV00728	f	f
778200	153	CYP2D6	*141	PV02389	f	f
778202	153	CYP2D6	*142	PV01434	f	f
778204	153	CYP2D6	*143	PV01435	f	f
778206	153	CYP2D6	*144	PV01436	f	f
778208	153	CYP2D6	*145	PV01437	f	f
1103377	135	CYP2D6	*146	PV01717	f	f
1103379	135	CYP2D6	*147	PV01805	f	f
1609527	116	CYP2D6	*148	PV01745	f	f
1103381	135	CYP2D6	*149	PV01730	f	f
2677011	75	CYP2D6	*150	PV02524	f	f
2677013	75	CYP2D6	*151	PV02194	f	f
2091236	97	CYP2D6	*152	PV02155	f	f
2091238	97	CYP2D6	*153	PV02157	f	f
2091242	97	CYP2D6	*155	PV01936	f	f
2091244	97	CYP2D6	*156	PV01943	f	f
2091246	97	CYP2D6	*157	PV01947	f	f
2091250	97	CYP2D6	*159	PV01954	f	f
777333	87	CFTR	E56K	\N	f	f
777357	87	CFTR	P67L	\N	f	f
777532	153	CYP2C19	*1	PV00598	f	f
777530	153	CYP2C19	*38	PV02145	t	f
2091252	97	CYP2D6	*160	PV01958	f	f
2091254	97	CYP2D6	*161	PV01963	f	f
2091256	97	CYP2D6	*162	PV01967	f	f
2091258	97	CYP2D6	*163	PV01969	f	f
2677039	75	CYP2D6	*164	PV02199	f	f
2677043	75	CYP2D6	*166	PV02203	f	f
2677045	75	CYP2D6	*167	PV02159	f	f
2677047	75	CYP2D6	*168	PV02161	f	f
2677049	75	CYP2D6	*169	PV02163	f	f
2677051	75	CYP2D6	*170	PV02165	f	f
2677053	75	CYP2D6	*171	PV02189	f	f
3318539	52	CYP2D6	*172	PV02301	f	f
5175550	14	CYP2D6	*173	PV02498	f	f
5175552	14	CYP2D6	*174	PV02500	f	f
5175554	14	CYP2D6	*175	PV02502	f	f
5409119	10	CYP2D6	*176	PV02519	f	f
5763832	4	CYP2D6	*177	PV02522	f	f
777970	153	CYP2D6	*19	PV02196	f	f
777978	153	CYP2D6	*23	PV00447	f	f
777988	153	CYP2D6	*28	PV00452	f	f
778014	153	CYP2D6	*41	PV00465	f	f
778016	153	CYP2D6	*42	PV02297	f	f
778018	153	CYP2D6	*43	PV00467	f	f
778020	153	CYP2D6	*44	PV00468	f	f
778022	153	CYP2D6	*45	PV00469	f	f
778024	153	CYP2D6	*46	PV00470	f	f
778026	153	CYP2D6	*47	PV00471	f	f
778028	153	CYP2D6	*48	PV00472	f	f
778030	153	CYP2D6	*49	PV00473	f	f
777944	148	CYP2D6	*5	PV00430	f	t
778032	153	CYP2D6	*50	PV00474	f	f
778034	153	CYP2D6	*51	PV00475	f	f
778036	153	CYP2D6	*52	PV00476	f	f
778038	153	CYP2D6	*53	PV00477	f	f
778040	153	CYP2D6	*54	PV00478	f	f
778042	153	CYP2D6	*55	PV00479	f	f
778044	153	CYP2D6	*56	PV00480	f	f
778048	153	CYP2D6	*58	PV00482	f	f
778050	153	CYP2D6	*59	PV00483	f	f
777946	153	CYP2D6	*6	PV00431	f	f
778052	153	CYP2D6	*60	PV00484	f	f
778054	148	CYP2D6	*61	PV00485	f	t
778056	153	CYP2D6	*62	PV00486	f	f
778058	148	CYP2D6	*63	PV00487	f	t
778060	153	CYP2D6	*64	PV00488	f	f
778062	153	CYP2D6	*65	PV00489	f	f
778064	148	CYP2D6	*68	PV00490	f	t
778066	153	CYP2D6	*69	PV00491	f	f
777948	153	CYP2D6	*7	PV00432	f	f
778068	153	CYP2D6	*70	PV00492	f	f
778070	153	CYP2D6	*71	PV00493	f	f
778072	153	CYP2D6	*72	PV00494	f	f
778074	153	CYP2D6	*73	PV00495	f	f
778076	153	CYP2D6	*74	PV00496	f	f
778078	153	CYP2D6	*75	PV00497	f	f
777950	153	CYP2D6	*8	PV00433	f	f
778080	153	CYP2D6	*81	PV00498	f	f
778082	153	CYP2D6	*82	PV00499	f	f
778084	153	CYP2D6	*83	PV02385	f	f
778086	153	CYP2D6	*84	PV00501	f	f
778088	153	CYP2D6	*85	PV00502	f	f
778090	153	CYP2D6	*86	PV00503	f	f
778092	153	CYP2D6	*87	PV00504	f	f
778094	153	CYP2D6	*88	PV00505	f	f
778096	153	CYP2D6	*89	PV00506	f	f
777952	153	CYP2D6	*9	PV00434	f	f
778098	153	CYP2D6	*90	PV00507	f	f
778108	153	CYP2D6	*95	PV00512	f	f
778112	153	CYP2D6	*97	PV00514	f	f
778114	153	CYP2D6	*98	PV00515	f	f
778116	153	CYP2D6	*99	PV00516	f	f
3318593	52	CYP4F2	*12	PV02322	f	f
3318595	52	CYP4F2	*13	PV02324	f	f
3318597	52	CYP4F2	*14	PV02326	f	f
3318599	52	CYP4F2	*15	PV02328	f	f
3318601	52	CYP4F2	*16	PV02312	f	t
4058604	29	CYP4F2	*17	PV02391	f	f
778240	152	CYP4F2	*2	PV02213	f	f
778242	152	CYP4F2	*3	PV02214	f	f
2784572	71	CYP4F2	*4	PV02221	f	f
2784574	71	CYP4F2	*5	PV02223	f	f
2784576	71	CYP4F2	*6	PV02225	f	f
2784578	71	CYP4F2	*7	PV02227	f	f
3318585	52	CYP4F2	*8	PV02314	f	f
3318587	52	CYP4F2	*9	PV02316	f	f
779080	152	NUDT15	*9	PV01605	f	f
1002623	137	SLCO1B1	*1	PV01618	t	f
779295	146	SLCO1B1	*10	PV01627	f	f
779297	146	SLCO1B1	*11	PV01628	f	f
779299	146	SLCO1B1	*12	PV01629	f	f
779301	146	SLCO1B1	*13	PV01630	f	f
779303	146	SLCO1B1	*14	PV01631	f	f
779305	146	SLCO1B1	*15	PV01632	f	f
779307	146	SLCO1B1	*16	PV01633	f	f
779313	146	SLCO1B1	*19	PV01634	f	f
779279	146	SLCO1B1	*2	PV01619	f	f
779315	146	SLCO1B1	*20	PV01635	f	f
779321	146	SLCO1B1	*23	PV01636	f	f
779323	146	SLCO1B1	*24	PV01637	f	f
779325	146	SLCO1B1	*25	PV01638	f	f
779327	146	SLCO1B1	*26	PV01639	f	f
779329	146	SLCO1B1	*27	PV01640	f	f
779331	146	SLCO1B1	*28	PV01641	f	f
779333	146	SLCO1B1	*29	PV01642	f	f
779281	146	SLCO1B1	*3	PV01620	f	f
779335	146	SLCO1B1	*30	PV01643	f	f
779337	146	SLCO1B1	*31	PV01644	f	f
779339	146	SLCO1B1	*32	PV01645	f	f
779341	146	SLCO1B1	*33	PV01646	f	f
779343	146	SLCO1B1	*34	PV01647	f	f
779347	146	SLCO1B1	*36	PV01648	f	f
1002685	137	SLCO1B1	*37	PV01649	f	f
1002687	137	SLCO1B1	*38	PV01650	f	f
1002689	137	SLCO1B1	*39	PV01651	f	f
779283	146	SLCO1B1	*4	PV01621	f	f
1002691	137	SLCO1B1	*40	PV01652	f	f
1002693	137	SLCO1B1	*41	PV01653	f	f
1002695	137	SLCO1B1	*42	PV01654	f	f
1002697	137	SLCO1B1	*43	PV01655	f	f
1002699	137	SLCO1B1	*44	PV01656	f	f
1002701	137	SLCO1B1	*45	PV01657	f	f
1002703	137	SLCO1B1	*46	PV01658	f	f
1002705	137	SLCO1B1	*47	PV01659	f	f
1357091	125	SLCO1B1	*48	PV01732	f	t
777550	153	CYP2C19	*10	PV00607	f	f
777552	153	CYP2C19	*11	PV00608	f	f
777554	153	CYP2C19	*12	PV00609	f	f
777556	153	CYP2C19	*13	PV00610	f	f
777558	153	CYP2C19	*14	PV00611	f	f
777560	153	CYP2C19	*15	PV00612	f	f
777562	153	CYP2C19	*16	PV02139	f	f
777564	153	CYP2C19	*17	PV00614	f	f
777566	153	CYP2C19	*18	PV00615	f	f
777568	153	CYP2C19	*19	PV00616	f	f
777534	153	CYP2C19	*2	PV00599	f	f
777570	153	CYP2C19	*22	PV00617	f	f
777572	153	CYP2C19	*23	PV00618	f	f
777574	153	CYP2C19	*24	PV00619	f	f
777576	153	CYP2C19	*25	PV00620	f	f
777536	153	CYP2C19	*3	PV00600	f	f
777594	153	CYP2C19	*35	PV00629	f	f
777598	148	CYP2C19	*37	PV00732	f	t
777600	153	CYP2C19	*39	PV01528	f	f
777538	153	CYP2C19	*4	PV00601	f	f
777540	153	CYP2C19	*5	PV02131	f	f
777542	153	CYP2C19	*6	PV00603	f	f
777544	153	CYP2C19	*7	PV02134	f	f
777548	153	CYP2C19	*9	PV00606	f	f
1357093	125	SLCO1B1	*49	PV01734	f	t
779285	146	SLCO1B1	*5	PV01622	f	f
779287	146	SLCO1B1	*6	PV01623	f	f
779289	146	SLCO1B1	*7	PV01624	f	f
779291	146	SLCO1B1	*8	PV01625	f	f
779293	146	SLCO1B1	*9	PV01626	f	f
778337	87	DPYD	c.295_298delTCAT (*7)	\N	f	f
778435	87	DPYD	c.1905C>G	\N	f	f
778453	87	DPYD	c.2279C>T	\N	f	f
778485	87	DPYD	c.2983G>T (*10)	\N	f	f
779041	87	IFNL3	rs12979860 reference (C)	\N	t	f
779043	87	IFNL3	rs12979860 variant (T)	\N	f	f
3685874	26	RYR1	c.13673G>A	\N	f	f
3685876	26	RYR1	c.13672C>T	\N	f	f
3685878	26	RYR1	c.13702C>G	\N	f	f
3685880	26	RYR1	c.13760C>T	\N	f	f
3685882	26	RYR1	c.13913G>A	\N	f	f
3685886	26	RYR1	c.13934G>A	\N	f	f
3685888	26	RYR1	c.13990T>C	\N	f	f
3685890	26	RYR1	c.13994_13995delTCinsCT	\N	f	f
3685892	26	RYR1	c.14002C>T	\N	f	f
3685894	26	RYR1	c.14051T>C	\N	f	f
3685896	26	RYR1	c.14126C>T	\N	f	f
3685898	26	RYR1	c.14168G>A	\N	f	f
3685900	26	RYR1	c.14186A>C	\N	f	f
3685902	26	RYR1	c.14197T>G	\N	f	f
3685904	26	RYR1	c.14201G>A	\N	f	f
3685906	26	RYR1	c.14209C>T	\N	f	f
3685908	26	RYR1	c.14210G>A	\N	f	f
3685910	26	RYR1	c.14270G>A	\N	f	f
779232	87	RYR1	c.14387A>G	\N	f	f
3685916	26	RYR1	c.14424C>A	\N	f	f
3685918	26	RYR1	c.14449A>T	\N	f	f
3685920	26	RYR1	c.14458G>A	\N	f	f
3685922	26	RYR1	c.14458G>T	\N	f	f
3685924	26	RYR1	c.14471T>C	\N	f	f
779234	87	RYR1	c.14477C>T	\N	f	f
779236	87	RYR1	c.14497C>T	\N	f	f
3685930	26	RYR1	c.14510delA	\N	f	f
3685932	26	RYR1	c.14509C>G	\N	f	f
779238	87	RYR1	c.14512C>G	\N	f	f
3685936	26	RYR1	c.14524G>A	\N	f	f
3685938	26	RYR1	c.14539G>C	\N	f	f
779240	87	RYR1	c.14545G>A	\N	f	f
3685942	26	RYR1	c.14558C>T	\N	f	f
3685944	26	RYR1	c.14567C>G	\N	f	f
779242	87	RYR1	c.14582G>A	\N	f	f
3685948	26	RYR1	c.14581C>T	\N	f	f
3685950	26	RYR1	c.14627A>G	\N	f	f
3685952	26	RYR1	c.14639T>C	\N	f	f
3685954	26	RYR1	c.14678G>A	\N	f	f
3685956	26	RYR1	c.14680G>A	\N	f	f
779244	87	RYR1	c.14693T>C	\N	f	f
3685960	26	RYR1	c.14782A>G	\N	f	f
3685962	26	RYR1	c.14803G>A	\N	f	f
3685964	26	RYR1	c.14813T>C	\N	f	f
3685966	26	RYR1	c.14814C>G	\N	f	f
3685968	26	RYR1	c.14817C>A	\N	f	f
3685970	26	RYR1	c.14818G>A	\N	f	f
3685972	26	RYR1	c.14825G>T	\N	f	f
3685974	26	RYR1	c.14879T>A	\N	f	f
3685976	26	RYR1	c.14918C>T	\N	f	f
3685978	26	RYR1	c.14968A>G	\N	f	f
3685980	26	RYR1	c.15059G>C	\N	f	f
777686	153	CYP2C9	*10	PV00546	f	f
777692	153	CYP2C9	*13	PV00549	f	f
777694	153	CYP2C9	*14	PV00550	f	f
777698	153	CYP2C9	*16	PV00552	f	f
777700	153	CYP2C9	*17	PV00553	f	f
777702	153	CYP2C9	*18	PV00554	f	f
777670	153	CYP2C9	*2	PV00538	f	f
777706	153	CYP2C9	*20	PV00556	f	f
777712	153	CYP2C9	*23	PV00559	f	f
777714	153	CYP2C9	*24	PV00560	f	f
777720	153	CYP2C9	*27	PV00563	f	f
777722	153	CYP2C9	*28	PV00564	f	f
777724	153	CYP2C9	*29	PV00565	f	f
777672	153	CYP2C9	*3	PV00539	f	f
777726	153	CYP2C9	*30	PV00566	f	f
777728	153	CYP2C9	*31	PV00567	f	f
777730	153	CYP2C9	*32	PV00568	f	f
777734	153	CYP2C9	*34	PV00570	f	f
777738	153	CYP2C9	*36	PV00572	f	f
777740	153	CYP2C9	*37	PV00573	f	f
777742	153	CYP2C9	*38	PV00574	f	f
777744	153	CYP2C9	*39	PV00575	f	f
777748	153	CYP2C9	*41	PV00577	f	f
777750	153	CYP2C9	*42	PV00578	f	f
777752	153	CYP2C9	*43	PV00579	f	f
777756	153	CYP2C9	*45	PV00581	f	f
777760	153	CYP2C9	*47	PV00583	f	f
777762	153	CYP2C9	*48	PV00584	f	f
777764	153	CYP2C9	*49	PV00585	f	f
777676	153	CYP2C9	*5	PV00541	f	f
777768	153	CYP2C9	*51	PV00587	f	f
777770	153	CYP2C9	*52	PV00588	f	f
777772	153	CYP2C9	*53	PV00589	f	f
777774	153	CYP2C9	*54	PV00590	f	f
777778	153	CYP2C9	*56	PV00592	f	f
777780	153	CYP2C9	*57	PV00593	f	f
777782	153	CYP2C9	*58	PV00594	f	f
777784	153	CYP2C9	*59	PV00595	f	f
777786	153	CYP2C9	*60	PV00596	f	f
777788	153	CYP2C9	*61	PV00597	f	f
777790	153	CYP2C9	*62	PV00851	f	f
777792	153	CYP2C9	*63	PV01418	f	f
777796	153	CYP2C9	*65	PV01420	f	f
777798	153	CYP2C9	*66	PV01421	f	f
777800	153	CYP2C9	*67	PV01422	f	f
777802	153	CYP2C9	*68	PV01423	f	f
777804	153	CYP2C9	*69	PV01424	f	f
777806	153	CYP2C9	*70	PV01425	f	f
1406315	123	CYP2C9	*72	PV01736	f	f
1406317	123	CYP2C9	*73	PV01738	f	f
1406319	123	CYP2C9	*74	PV01803	f	f
1932985	103	CYP2C9	*76	PV01780	f	f
1932987	103	CYP2C9	*77	PV01782	f	f
1932989	103	CYP2C9	*78	PV01784	f	f
1932991	103	CYP2C9	*79	PV01786	f	f
1932993	103	CYP2C9	*80	PV01788	f	f
1932997	103	CYP2C9	*82	PV01792	f	f
1932999	103	CYP2C9	*83	PV01794	f	f
1933001	103	CYP2C9	*84	PV01796	f	f
777684	153	CYP2C9	*9	PV00545	f	f
777994	153	CYP2D6	*31	PV00455	f	f
778483	87	DPYD	c.2977C>T	\N	f	f
778714	87	G6PD	202G>A_376A>G_1264C>G	\N	f	f
778752	87	G6PD	A	\N	f	f
778712	87	G6PD	A- 202A_376G	\N	f	f
778742	87	G6PD	Acrokorinthos	\N	f	f
779002	87	G6PD	Andalus	\N	f	f
778826	87	G6PD	Asahikawa	\N	f	f
778938	87	G6PD	Beverly Hills, Genova, Iwate, Niigata, Yamaguchi	\N	f	f
779038	87	G6PD	Brighton	\N	f	f
778774	87	G6PD	Gond	\N	f	f
778906	87	G6PD	Ierapetra	\N	f	f
778724	87	G6PD	Lagosanto	\N	f	f
778800	88	G6PD	Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham	\N	f	f
778802	87	G6PD	Pedoplis-Ckaro	\N	f	f
778744	87	G6PD	Santa Maria	\N	f	f
777472	153	CYP2B6	*27	PV00765	f	f
2899142	67	CYP2B6	*39	PV02266	f	f
2899146	67	CYP2B6	*41	PV02270	f	f
2899148	67	CYP2B6	*42	PV02272	f	f
2899150	67	CYP2B6	*43	PV02274	f	f
2899152	67	CYP2B6	*44	PV02276	f	f
777936	153	CYP2D6	*1	PV00426	t	f
777954	153	CYP2D6	*10	PV00435	f	f
778118	153	CYP2D6	*100	PV00517	f	f
778120	153	CYP2D6	*101	PV00518	f	f
778122	153	CYP2D6	*102	PV00519	f	f
778124	153	CYP2D6	*103	PV00520	f	f
778126	153	CYP2D6	*104	PV00521	f	f
778128	153	CYP2D6	*105	PV00522	f	f
778130	153	CYP2D6	*106	PV00523	f	f
778132	153	CYP2D6	*107	PV00524	f	f
778136	153	CYP2D6	*109	PV00526	f	f
777956	153	CYP2D6	*11	PV00436	f	f
778138	153	CYP2D6	*110	PV00527	f	f
778140	153	CYP2D6	*111	PV00528	f	f
778142	153	CYP2D6	*112	PV00529	f	f
778144	153	CYP2D6	*113	PV00530	f	f
777962	153	CYP2D6	*14	PV00439	f	f
777964	153	CYP2D6	*15	PV00440	f	f
777966	153	CYP2D6	*17	PV00441	f	f
777968	153	CYP2D6	*18	PV01591	f	f
777938	153	CYP2D6	*2	PV00427	f	f
777972	153	CYP2D6	*20	PV01749	f	f
777974	153	CYP2D6	*21	PV00445	f	f
777976	153	CYP2D6	*22	PV00446	f	f
777980	153	CYP2D6	*24	PV00448	f	f
777982	153	CYP2D6	*25	PV00449	f	f
777984	153	CYP2D6	*26	PV00450	f	f
777986	153	CYP2D6	*27	PV00451	f	f
777990	153	CYP2D6	*29	PV00453	f	f
777940	153	CYP2D6	*3	PV00428	f	f
777992	153	CYP2D6	*30	PV00454	f	f
777996	153	CYP2D6	*32	PV00456	f	f
777998	153	CYP2D6	*33	PV00457	f	f
778000	153	CYP2D6	*34	PV00458	f	f
778002	153	CYP2D6	*35	PV00459	f	f
778004	153	CYP2D6	*36	PV02379	f	f
778006	153	CYP2D6	*37	PV00461	f	f
778008	153	CYP2D6	*38	PV01592	f	f
778010	153	CYP2D6	*39	PV00463	f	f
777942	153	CYP2D6	*4	PV00429	f	f
778012	153	CYP2D6	*40	PV00464	f	f
777446	153	CYP2B6	*13	PV00751	f	f
777458	153	CYP2B6	*20	PV00758	f	f
777488	153	CYP2B6	*35	PV00775	f	f
777546	153	CYP2C19	*8	PV02136	f	f
777688	153	CYP2C9	*11	PV00547	f	f
777696	153	CYP2C9	*15	PV00551	f	f
777710	153	CYP2C9	*22	PV00558	f	f
777674	153	CYP2C9	*4	PV00540	f	f
777262	87	CACNA1S	Reference	\N	t	f
777266	87	CACNA1S	c.3257G>A	\N	f	f
777307	87	CFTR	ivacaftor non-responsive CFTR sequence	\N	t	f
777379	87	CFTR	S549R(A>C)	\N	f	f
777339	87	CFTR	F1074L	\N	f	f
778146	153	CYP2D6	*114	PV00531	f	f
778148	153	CYP2D6	*115	PV00532	f	f
778150	153	CYP2D6	*116	PV00533	f	f
778152	153	CYP2D6	*117	PV00534	f	f
778156	153	CYP2D6	*119	PV00536	f	f
778160	153	CYP2D6	*121	PV00631	f	f
778162	153	CYP2D6	*122	PV00632	f	f
778164	153	CYP2D6	*123	PV00633	f	f
778166	153	CYP2D6	*124	PV00634	f	f
778168	153	CYP2D6	*125	PV00681	f	f
778170	153	CYP2D6	*126	PV00682	f	f
778172	153	CYP2D6	*127	PV00635	f	f
778174	153	CYP2D6	*128	PV01408	f	f
778176	153	CYP2D6	*129	PV00684	f	f
779400	87	TPMT	*3C	\N	f	f
779402	87	TPMT	*4	\N	f	f
779404	87	TPMT	*5	\N	f	f
779406	87	TPMT	*6	\N	f	f
779408	87	TPMT	*7	\N	f	f
779410	87	TPMT	*8	\N	f	f
779412	87	TPMT	*9	\N	f	f
779414	87	TPMT	*10	\N	f	f
828095	86	MT-RNR1	Reference	\N	t	f
3827872	20	MT-RNR1	m.663A>G	\N	f	f
3827874	20	MT-RNR1	m.669T>C	\N	f	f
3827876	20	MT-RNR1	m.747A>G	\N	f	f
3827878	20	MT-RNR1	m.786G>A	\N	f	f
3827880	20	MT-RNR1	m.807A>C	\N	f	f
3827882	20	MT-RNR1	m.807A>G	\N	f	f
3827884	20	MT-RNR1	m.827A>G	\N	f	f
3827886	20	MT-RNR1	m.839A>G	\N	f	f
3827888	20	MT-RNR1	m.896A>G	\N	f	f
3827890	20	MT-RNR1	m.930A>G	\N	f	f
3827892	20	MT-RNR1	m.951G>A	\N	f	f
3827894	20	MT-RNR1	m.960C>del	\N	f	f
3827896	20	MT-RNR1	m.961T>G	\N	f	f
3827898	20	MT-RNR1	m.961T>del	\N	f	f
3827900	20	MT-RNR1	m.961T>del+Cn	\N	f	f
3827902	20	MT-RNR1	m.988G>A	\N	f	f
3827904	20	MT-RNR1	m.1095T>C	\N	f	f
3827906	20	MT-RNR1	m.1189T>C	\N	f	f
3827908	20	MT-RNR1	m.1243T>C	\N	f	f
3827910	20	MT-RNR1	m.1494C>T	\N	f	f
3827912	20	MT-RNR1	m.1520T>C	\N	f	f
3827914	20	MT-RNR1	m.1537C>T	\N	f	f
3827916	20	MT-RNR1	m.1555A>G	\N	f	f
3827918	20	MT-RNR1	m.1556C>T	\N	f	f
3685982	26	RYR1	c.15060G>C	\N	f	f
3685984	26	RYR1	c.14364+1G>T	\N	f	f
779392	87	TPMT	*1	\N	t	f
779394	87	TPMT	*2	\N	f	f
779396	87	TPMT	*3A	\N	f	f
779398	87	TPMT	*3B	\N	f	f
779416	87	TPMT	*11	\N	f	f
779418	87	TPMT	*12	\N	f	f
779420	87	TPMT	*13	\N	f	f
779422	87	TPMT	*14	\N	f	f
779424	87	TPMT	*15	\N	f	f
779426	87	TPMT	*16	\N	f	f
779428	87	TPMT	*17	\N	f	f
779430	87	TPMT	*18	\N	f	f
779432	87	TPMT	*19	\N	f	f
779434	87	TPMT	*20	\N	f	f
779436	87	TPMT	*21	\N	f	f
779438	87	TPMT	*22	\N	f	f
779440	87	TPMT	*23	\N	f	f
779442	87	TPMT	*24	\N	f	f
779444	87	TPMT	*25	\N	f	f
1508724	68	ABCG2	rs2231142 reference (G)	\N	t	f
778218	153	CYP3A5	*1	PV01323	t	f
778222	153	CYP3A5	*3	PV01325	f	f
778230	153	CYP3A5	*7	PV01329	f	f
778232	153	CYP3A5	*8	PV01330	f	f
778234	153	CYP3A5	*9	PV01331	f	f
779064	152	NUDT15	*1	PV01597	t	f
779082	152	NUDT15	*10	PV01606	f	f
779084	152	NUDT15	*11	PV01607	f	f
779086	152	NUDT15	*12	PV01608	f	f
779088	152	NUDT15	*13	PV01609	f	f
779090	152	NUDT15	*14	PV01610	f	f
779092	152	NUDT15	*15	PV01611	f	f
779094	152	NUDT15	*16	PV01612	f	f
779096	152	NUDT15	*17	PV01613	f	f
779098	152	NUDT15	*18	PV01614	f	f
779100	152	NUDT15	*19	PV01615	f	f
779066	152	NUDT15	*2	PV01598	f	f
779102	152	NUDT15	*20	PV01616	f	f
5881976	2	NUDT15	*21	PV02804	f	f
779068	152	NUDT15	*3	PV01599	f	f
779070	152	NUDT15	*4	PV01600	f	f
779072	152	NUDT15	*5	PV01601	f	f
779074	152	NUDT15	*6	PV01602	f	f
779160	87	RYR1	c.742G>A	\N	f	f
3685398	26	RYR1	c.1144C>A	\N	f	f
3685428	26	RYR1	c.1565A>G	\N	f	f
3685458	26	RYR1	c.2537C>T	\N	f	f
3685488	26	RYR1	c.4024A>G	\N	f	f
3685520	26	RYR1	c.5440A>G	\N	f	f
3685550	26	RYR1	c.6488G>T	\N	f	f
3685580	26	RYR1	c.6743G>A	\N	f	f
779202	87	RYR1	c.7063C>T	\N	f	f
779206	87	RYR1	c.7282G>A	\N	f	f
3685646	26	RYR1	c.7292A>T	\N	f	f
779220	87	RYR1	c.7373G>A	\N	f	f
3685704	26	RYR1	c.7879G>C	\N	f	f
3685734	26	RYR1	c.8654C>G	\N	f	f
3685764	26	RYR1	c.9850T>A	\N	f	f
3685794	26	RYR1	c.11120G>T	\N	f	f
3685824	26	RYR1	c.11958C>G	\N	f	f
3685854	26	RYR1	c.12533G>T	\N	f	f
3685884	26	RYR1	c.13918A>G	\N	f	f
3685914	26	RYR1	c.14422_14423delinsAA	\N	f	f
779446	87	TPMT	*26	\N	f	f
779448	87	TPMT	*27	\N	f	f
779450	87	TPMT	*28	\N	f	f
779452	87	TPMT	*29	\N	f	f
779454	87	TPMT	*30	\N	f	f
779456	87	TPMT	*31	\N	f	f
779458	87	TPMT	*32	\N	f	f
779460	87	TPMT	*33	\N	f	f
779462	87	TPMT	*34	\N	f	f
779464	87	TPMT	*35	\N	f	f
779466	87	TPMT	*36	\N	f	f
779468	87	TPMT	*37	\N	f	f
779470	87	TPMT	*38	\N	f	f
779472	87	TPMT	*39	\N	f	f
779474	87	TPMT	*40	\N	f	f
779476	87	TPMT	*41	\N	f	f
779478	87	TPMT	*42	\N	f	f
779480	87	TPMT	*43	\N	f	f
779482	87	TPMT	*44	\N	f	f
779488	87	UGT1A1	*1	\N	t	f
779490	87	UGT1A1	*6	\N	f	f
779492	87	UGT1A1	*27	\N	f	f
779494	87	UGT1A1	*28	\N	f	f
779496	87	UGT1A1	*36	\N	f	f
779498	87	UGT1A1	*37	\N	f	f
779500	87	UGT1A1	*80	\N	f	f
779502	87	UGT1A1	*80+*28	\N	f	f
779504	87	UGT1A1	*80+*37	\N	f	f
779507	87	VKORC1	rs9923231 reference (C)	\N	t	f
779509	87	VKORC1	rs9923231 variant (T)	\N	f	f
779076	152	NUDT15	*7	PV01603	f	f
779078	152	NUDT15	*8	PV01604	f	f
778104	153	CYP2D6	*93	PV00510	f	f
778228	153	CYP3A5	*6	PV01328	f	f
778238	152	CYP4F2	*1	PV02212	t	f
3318589	52	CYP4F2	*10	PV02318	f	f
3685524	26	RYR1	c.5890C>T	\N	f	f
3685526	26	RYR1	c.6037A>C	\N	f	f
3685528	26	RYR1	c.6178G>T	\N	f	f
3685530	26	RYR1	c.6302T>A	\N	f	f
3318591	52	CYP4F2	*11	PV02320	f	f
779148	87	RYR1	Reference	\N	t	f
3685308	26	RYR1	c.38T>G	\N	f	f
3685310	26	RYR1	c.51_53del	\N	f	f
3685312	26	RYR1	c.97A>G	\N	f	f
779150	87	RYR1	c.103T>C	\N	f	f
3685316	26	RYR1	c.119G>C	\N	f	f
779152	87	RYR1	c.130C>T	\N	f	f
3685320	26	RYR1	c.131G>A	\N	f	f
3685322	26	RYR1	c.152C>A	\N	f	f
3685324	26	RYR1	c.178G>A	\N	f	f
3685326	26	RYR1	c.178G>T	\N	f	f
3685328	26	RYR1	c.190T>C	\N	f	f
3685330	26	RYR1	c.212C>A	\N	f	f
3685332	26	RYR1	c.251C>T	\N	f	f
3685334	26	RYR1	c.418G>A	\N	f	f
3685336	26	RYR1	c.455C>A	\N	f	f
3685338	26	RYR1	c.463C>A	\N	f	f
3685340	26	RYR1	c.467G>A	\N	f	f
3685342	26	RYR1	c.479A>G	\N	f	f
779154	87	RYR1	c.487C>T	\N	f	f
779156	87	RYR1	c.488G>T	\N	f	f
3685348	26	RYR1	c.488G>A	\N	f	f
3685350	26	RYR1	c.493G>A	\N	f	f
3685352	26	RYR1	c.496G>A	\N	f	f
3685354	26	RYR1	c.497A>G	\N	f	f
3685356	26	RYR1	c.526G>A	\N	f	f
3685358	26	RYR1	c.528G>T	\N	f	f
3685360	26	RYR1	c.529C>T	\N	f	f
3685362	26	RYR1	c.533A>G	\N	f	f
3685364	26	RYR1	c.533A>C	\N	f	f
3685368	26	RYR1	c.641C>T	\N	f	f
3685370	26	RYR1	c.652G>A	\N	f	f
3685372	26	RYR1	c.677T>A	\N	f	f
3685374	26	RYR1	c.680A>T	\N	f	f
779158	87	RYR1	c.742G>C	\N	f	f
3685380	26	RYR1	c.946C>T	\N	f	f
3685382	26	RYR1	c.947G>T	\N	f	f
779162	87	RYR1	c.982C>T	\N	f	f
3685386	26	RYR1	c.992_994dup	\N	f	f
779164	87	RYR1	c.1021G>A	\N	f	f
779166	87	RYR1	c.1021G>C	\N	f	f
3685392	26	RYR1	c.1024G>A	\N	f	f
3685394	26	RYR1	c.1100G>A	\N	f	f
3685396	26	RYR1	c.1100G>T	\N	f	f
779168	87	RYR1	c.1201C>T	\N	f	f
3685402	26	RYR1	c.1201C>A	\N	f	f
3685404	26	RYR1	c.1201C>G	\N	f	f
3685406	26	RYR1	c.1202G>T	\N	f	f
3685408	26	RYR1	c.1202G>A	\N	f	f
779170	87	RYR1	c.1209C>G	\N	f	f
3685412	26	RYR1	c.1411C>T	\N	f	f
3685414	26	RYR1	c.1422G>T	\N	f	f
3685416	26	RYR1	c.1453A>G	\N	f	f
3685418	26	RYR1	c.1459C>G	\N	f	f
3685420	26	RYR1	c.1460T>C	\N	f	f
3685422	26	RYR1	c.1475G>A	\N	f	f
3685424	26	RYR1	c.1553T>C	\N	f	f
779172	87	RYR1	c.1565A>C	\N	f	f
779174	87	RYR1	c.1589G>A	\N	f	f
779176	87	RYR1	c.1597C>T	\N	f	f
3685434	26	RYR1	c.1597C>A	\N	f	f
779178	87	RYR1	c.1598G>A	\N	f	f
3685438	26	RYR1	c.1615T>C	\N	f	f
3685440	26	RYR1	c.1615T>G	\N	f	f
3685442	26	RYR1	c.1630G>T	\N	f	f
779180	87	RYR1	c.1654C>T	\N	f	f
3685446	26	RYR1	c.1834G>C	\N	f	f
779182	87	RYR1	c.1840C>T	\N	f	f
779184	87	RYR1	c.1841G>T	\N	f	f
3685452	26	RYR1	c.2050G>C	\N	f	f
3685454	26	RYR1	c.2122G>A	\N	f	f
3685456	26	RYR1	c.2447C>T	\N	f	f
3685460	26	RYR1	c.2654G>A	\N	f	f
3685462	26	RYR1	c.2797G>A	\N	f	f
3685464	26	RYR1	c.2924G>A	\N	f	f
3685466	26	RYR1	c.2996G>A	\N	f	f
3685468	26	RYR1	c.3095G>A	\N	f	f
3685470	26	RYR1	c.3127C>T	\N	f	f
3685472	26	RYR1	c.3166G>C	\N	f	f
3685474	26	RYR1	c.3166G>A	\N	f	f
3685476	26	RYR1	c.3172G>A	\N	f	f
3685478	26	RYR1	c.3224G>A	\N	f	f
3685480	26	RYR1	c.3418C>T	\N	f	f
3685482	26	RYR1	c.3527C>T	\N	f	f
3685484	26	RYR1	c.3656A>C	\N	f	f
3685486	26	RYR1	c.3667G>A	\N	f	f
3685490	26	RYR1	c.4178A>G	\N	f	f
3685492	26	RYR1	c.4400A>G	\N	f	f
3685494	26	RYR1	c.4711A>G	\N	f	f
3685496	26	RYR1	c.4747C>T	\N	f	f
3685498	26	RYR1	c.4763C>T	\N	f	f
3685500	26	RYR1	c.4775C>T	\N	f	f
3685502	26	RYR1	c.5024T>C	\N	f	f
3685504	26	RYR1	c.5033A>G	\N	f	f
3685506	26	RYR1	c.5036G>A	\N	f	f
3685508	26	RYR1	c.5132A>G	\N	f	f
3685510	26	RYR1	c.5183C>T	\N	f	f
3685512	26	RYR1	c.5186T>G	\N	f	f
3685514	26	RYR1	c.5317C>T	\N	f	f
3685516	26	RYR1	c.5341T>C	\N	f	f
3685518	26	RYR1	c.5360C>T	\N	f	f
3685522	26	RYR1	c.5441T>A	\N	f	f
3685532	26	RYR1	c.6304G>C	\N	f	f
3685534	26	RYR1	c.6349G>C	\N	f	f
3685536	26	RYR1	c.6377G>A	\N	f	f
3685538	26	RYR1	c.6387C>G	\N	f	f
3685540	26	RYR1	c.6388G>A	\N	f	f
3685542	26	RYR1	c.6478G>A	\N	f	f
779186	87	RYR1	c.6487C>T	\N	f	f
779188	87	RYR1	c.6488G>A	\N	f	f
3685548	26	RYR1	c.6488G>C	\N	f	f
779190	87	RYR1	c.6502G>A	\N	f	f
3685554	26	RYR1	c.6544A>T	\N	f	f
3685556	26	RYR1	c.6548G>A	\N	f	f
3685558	26	RYR1	c.6599C>T	\N	f	f
2899144	67	CYP2B6	*40	PV02268	f	f
2899160	67	CYP2B6	*48	PV02284	f	f
777586	153	CYP2C19	*31	PV00625	f	f
777596	148	CYP2C19	*36	PV00730	f	t
777668	153	CYP2C9	*1	PV00537	t	f
777708	153	CYP2C9	*21	PV00557	f	f
777718	153	CYP2C9	*26	PV00562	f	f
777736	153	CYP2C9	*35	PV00571	f	f
777754	153	CYP2C9	*44	PV00580	f	f
777808	153	CYP2C9	*71	PV01444	f	f
1932995	103	CYP2C9	*81	PV01790	f	f
778134	153	CYP2D6	*108	PV00525	f	f
778154	153	CYP2D6	*118	PV00535	f	f
778158	153	CYP2D6	*120	PV00630	f	f
777960	148	CYP2D6	*13	PV00438	f	t
778194	153	CYP2D6	*138	PV00722	f	f
778198	153	CYP2D6	*140	PV01361	f	f
2091240	97	CYP2D6	*154	PV01934	f	f
2091248	97	CYP2D6	*158	PV01951	f	f
2677041	75	CYP2D6	*165	PV02201	f	f
778327	87	DPYD	Reference	\N	t	f
778329	87	DPYD	c.46C>G	\N	f	f
778461	87	DPYD	c.2582A>G	\N	f	f
778463	87	DPYD	c.2623A>C	\N	f	f
778465	87	DPYD	c.2639G>T	\N	f	f
778467	87	DPYD	c.2656C>T	\N	f	f
778469	87	DPYD	c.2657G>A (*9B)	\N	f	f
778471	87	DPYD	c.2846A>T	\N	f	f
778473	87	DPYD	c.2872A>G	\N	f	f
778475	87	DPYD	c.2915A>G	\N	f	f
778477	87	DPYD	c.2921A>T	\N	f	f
778479	87	DPYD	c.2933A>G	\N	f	f
778481	87	DPYD	c.2978T>G	\N	f	f
778487	87	DPYD	c.3049G>A	\N	f	f
778489	87	DPYD	c.3061G>C	\N	f	f
778491	87	DPYD	c.3067C>A	\N	f	f
3685366	26	RYR1	c.625G>A	\N	f	f
3685560	26	RYR1	c.6612C>G	\N	f	f
779192	87	RYR1	c.6617C>G	\N	f	f
779194	87	RYR1	c.6617C>T	\N	f	f
3685566	26	RYR1	c.6628G>T	\N	f	f
3685568	26	RYR1	c.6635T>A	\N	f	f
778331	87	DPYD	c.61C>T	\N	f	f
778333	87	DPYD	c.62G>A	\N	f	f
778335	87	DPYD	c.85T>C (*9A)	\N	f	f
778339	87	DPYD	c.313G>A	\N	f	f
778341	87	DPYD	c.343A>G	\N	f	f
778343	87	DPYD	c.451A>G	\N	f	f
778345	87	DPYD	c.496A>G	\N	f	f
778347	87	DPYD	c.498G>A	\N	f	f
778349	87	DPYD	c.525G>A	\N	f	f
778351	87	DPYD	c.557A>G	\N	f	f
778353	87	DPYD	c.601A>C	\N	f	f
778355	87	DPYD	c.632A>G	\N	f	f
778357	87	DPYD	c.703C>T (*8)	\N	f	f
778359	87	DPYD	c.775A>G	\N	f	f
778361	87	DPYD	c.868A>G	\N	f	f
778363	87	DPYD	c.929T>C	\N	f	f
778365	87	DPYD	c.934C>T	\N	f	f
778367	87	DPYD	c.967G>A	\N	f	f
778369	87	DPYD	c.1003G>T (*11)	\N	f	f
778371	87	DPYD	c.1024G>A	\N	f	f
778373	87	DPYD	c.1057C>T	\N	f	f
778375	87	DPYD	c.1108A>G	\N	f	f
3942827	19	DPYD	c.1129-5923C>G	\N	f	f
778377	87	DPYD	c.1129-5923C>G, c.1236G>A (HapB3)	\N	f	f
778379	87	DPYD	c.1156G>T (*12)	\N	f	f
778381	87	DPYD	c.1180C>T	\N	f	f
778383	87	DPYD	c.1181G>T	\N	f	f
778385	87	DPYD	c.1218G>A	\N	f	f
778387	87	DPYD	c.1260T>A	\N	f	f
778389	87	DPYD	c.1278G>T	\N	f	f
778391	87	DPYD	c.1294G>A	\N	f	f
778393	87	DPYD	c.1314T>G	\N	f	f
778395	87	DPYD	c.1349C>T	\N	f	f
778397	87	DPYD	c.1358C>G	\N	f	f
778399	87	DPYD	c.1371C>T	\N	f	f
778401	87	DPYD	c.1403C>A	\N	f	f
778403	87	DPYD	c.1475C>T	\N	f	f
778405	87	DPYD	c.1484A>G	\N	f	f
778407	87	DPYD	c.1519G>A	\N	f	f
778409	87	DPYD	c.1543G>A	\N	f	f
778411	87	DPYD	c.1577C>G	\N	f	f
778413	87	DPYD	c.1601G>A (*4)	\N	f	f
778415	87	DPYD	c.1615G>A	\N	f	f
778417	87	DPYD	c.1627A>G (*5)	\N	f	f
778419	87	DPYD	c.1679T>G (*13)	\N	f	f
778421	87	DPYD	c.1682G>T	\N	f	f
778423	87	DPYD	c.1774C>T	\N	f	f
778425	87	DPYD	c.1775G>A	\N	f	f
778427	87	DPYD	c.1777G>A	\N	f	f
778429	87	DPYD	c.1796T>C	\N	f	f
778431	87	DPYD	c.1896T>C	\N	f	f
778433	87	DPYD	c.1898delC (*3)	\N	f	f
778437	87	DPYD	c.1905+1G>A (*2A)	\N	f	f
778445	87	DPYD	c.2161G>A	\N	f	f
778447	87	DPYD	c.2186C>T	\N	f	f
778449	87	DPYD	c.2194G>A (*6)	\N	f	f
778451	87	DPYD	c.2195T>G	\N	f	f
778455	87	DPYD	c.2303C>A	\N	f	f
778457	87	DPYD	c.2336C>A	\N	f	f
778459	87	DPYD	c.2482G>A	\N	f	f
3685570	26	RYR1	c.6640G>A	\N	f	f
3685572	26	RYR1	c.6671G>A	\N	f	f
3685574	26	RYR1	c.6670C>T	\N	f	f
3685576	26	RYR1	c.6710G>A	\N	f	f
3685578	26	RYR1	c.6742C>T	\N	f	f
3685582	26	RYR1	c.6757C>T	\N	f	f
3685584	26	RYR1	c.6838G>A	\N	f	f
3685586	26	RYR1	c.6847A>C	\N	f	f
3685588	26	RYR1	c.6961A>G	\N	f	f
779196	87	RYR1	c.7007G>A	\N	f	f
3685592	26	RYR1	c.7018T>C	\N	f	f
777422	153	CYP2B6	*1	PV00738	t	f
777424	153	CYP2B6	*2	PV00740	f	f
777426	153	CYP2B6	*3	PV00741	f	f
1508726	68	ABCG2	rs2231142 variant (T)	\N	f	f
777264	87	CACNA1S	c.520C>T	\N	f	f
777311	87	CFTR	3272-26A->G	\N	f	f
777337	87	CFTR	F1052V	\N	f	f
777371	87	CFTR	R74W	\N	f	f
777321	87	CFTR	D110E	\N	f	f
777323	87	CFTR	D110H	\N	f	f
777363	87	CFTR	R117C	\N	f	f
777365	87	CFTR	R117H	\N	f	f
777347	87	CFTR	G178R	\N	f	f
777331	87	CFTR	E193K	\N	f	f
777315	87	CFTR	711+3A->G	\N	f	f
777355	87	CFTR	L206W	\N	f	f
777367	87	CFTR	R347H	\N	f	f
777369	87	CFTR	R352Q	\N	f	f
777319	87	CFTR	A455E	\N	f	f
777377	87	CFTR	S549N	\N	f	f
777381	87	CFTR	S549R(T>G)	\N	f	f
777351	87	CFTR	G551S	\N	f	f
777349	87	CFTR	G551D	\N	f	f
777329	87	CFTR	D579G	\N	f	f
777335	87	CFTR	E831X	\N	f	f
777309	87	CFTR	2789+5G->A	\N	f	f
777383	87	CFTR	S945L	\N	f	f
777385	87	CFTR	S977F	\N	f	f
777353	87	CFTR	K1060T	\N	f	f
777317	87	CFTR	A1067T	\N	f	f
777341	87	CFTR	G1069R	\N	f	f
777359	87	CFTR	R1070Q	\N	f	f
777361	87	CFTR	R1070W	\N	f	f
777325	87	CFTR	D1152H	\N	f	f
777313	87	CFTR	3849+10kbC->T	\N	f	f
777343	87	CFTR	G1244E	\N	f	f
777373	87	CFTR	S1251N	\N	f	f
777375	87	CFTR	S1255P	\N	f	f
777327	87	CFTR	D1270N	\N	f	f
777345	87	CFTR	G1349D	\N	f	f
777582	153	CYP2C19	*29	PV00623	f	f
777584	153	CYP2C19	*30	PV02141	f	f
777588	153	CYP2C19	*32	PV00626	f	f
777590	153	CYP2C19	*33	PV00627	f	f
778100	153	CYP2D6	*91	PV00508	f	f
778102	153	CYP2D6	*92	PV00509	f	f
778106	153	CYP2D6	*94	PV00511	f	f
778110	153	CYP2D6	*96	PV00513	f	f
778439	87	DPYD	c.1906A>C	\N	f	f
778441	87	DPYD	c.1990G>T	\N	f	f
778443	87	DPYD	c.2021G>A	\N	f	f
778666	88	G6PD	B (reference)	\N	t	f
778748	87	G6PD	A- 680T_376G	\N	f	f
778750	87	G6PD	A- 968C_376G	\N	f	f
778916	87	G6PD	Aachen	\N	f	f
778962	87	G6PD	Abeno	\N	f	f
778950	87	G6PD	Alhambra	\N	f	f
778702	87	G6PD	Amazonia	\N	f	f
779006	87	G6PD	Amiens	\N	f	f
778700	87	G6PD	Amsterdam	\N	f	f
778956	87	G6PD	Anadia	\N	f	f
778746	87	G6PD	Ananindeua	\N	f	f
779036	87	G6PD	Arakawa	\N	f	f
778708	87	G6PD	Asahi	\N	f	f
778686	87	G6PD	Aures	\N	f	f
778836	87	G6PD	Aveiro	\N	f	f
778858	87	G6PD	Bajo Maumere	\N	f	f
778844	87	G6PD	Bangkok	\N	f	f
779008	87	G6PD	Bangkok Noi	\N	f	f
778738	87	G6PD	Bao Loc	\N	f	f
778952	87	G6PD	Bari	\N	f	f
778766	87	G6PD	Belem	\N	f	f
779034	87	G6PD	Buenos Aires	\N	f	f
778762	87	G6PD	Cairo	\N	f	f
778922	87	G6PD	Calvo Mackenna	\N	f	f
779032	87	G6PD	Campinas	\N	f	f
779012	87	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	\N	f	f
778994	87	G6PD	Cassano	\N	f	f
778894	87	G6PD	Chatham	\N	f	f
778794	87	G6PD	Chikugo	\N	f	f
778854	87	G6PD	Chinese-1	\N	f	f
778900	87	G6PD	Chinese-5	\N	f	f
778816	87	G6PD	Cincinnati	\N	f	f
778840	87	G6PD	Cleveland Corum	\N	f	f
778960	87	G6PD	Clinic	\N	f	f
778804	87	G6PD	Coimbra Shunde	\N	f	f
779010	87	G6PD	Cosenza	\N	f	f
778698	87	G6PD	Costanzo	\N	f	f
778958	87	G6PD	Covao do Lobo	\N	f	f
778740	87	G6PD	Crispim	\N	f	f
778810	87	G6PD	Dagua	\N	f	f
778830	87	G6PD	Durham	\N	f	f
778888	87	G6PD	Farroupilha	\N	f	f
779004	87	G6PD	Figuera da Foz	\N	f	f
779018	87	G6PD	Flores	\N	f	f
779030	87	G6PD	Fukaya	\N	f	f
778896	87	G6PD	Fushan	\N	f	f
778674	87	G6PD	Gaohe	\N	f	f
778978	87	G6PD	Georgia	\N	f	f
778680	87	G6PD	Gidra	\N	f	f
778936	87	G6PD	Guadalajara	\N	f	f
778726	87	G6PD	Guangzhou	\N	f	f
778852	87	G6PD	Haikou	\N	f	f
778734	87	G6PD	Hammersmith	\N	f	f
778818	87	G6PD	Harilaou	\N	f	f
778998	87	G6PD	Harima	\N	f	f
778940	87	G6PD	Hartford	\N	f	f
778710	87	G6PD	Hechi	\N	f	f
778996	87	G6PD	Hermoupolis	\N	f	f
778676	87	G6PD	Honiara	\N	f	f
778770	87	G6PD	Ilesha	\N	f	f
778890	87	G6PD	Insuli	\N	f	f
778934	87	G6PD	Iowa, Walter Reed, Springfield	\N	f	f
778908	87	G6PD	Iwatsuki	\N	f	f
778970	87	G6PD	Japan, Shinagawa	\N	f	f
779022	87	G6PD	Kaiping, Anant, Dhon, Sapporo-like, Wosera	\N	f	f
778880	87	G6PD	Kalyan-Kerala, Jamnaga, Rohini	\N	f	f
778688	87	G6PD	Kambos	\N	f	f
779016	87	G6PD	Kamiube, Keelung	\N	f	f
778692	87	G6PD	Kamogawa	\N	f	f
778972	87	G6PD	Kawasaki	\N	f	f
778690	87	G6PD	Kozukata	\N	f	f
778944	87	G6PD	Krakow	\N	f	f
778848	87	G6PD	La Jolla	\N	f	f
778672	87	G6PD	Lages	\N	f	f
779026	87	G6PD	Laibin	\N	f	f
778842	87	G6PD	Lille	\N	f	f
778768	87	G6PD	Liuzhou	\N	f	f
778914	87	G6PD	Loma Linda	\N	f	f
778878	87	G6PD	Ludhiana	\N	f	f
778930	87	G6PD	Lynwood	\N	f	f
778932	87	G6PD	Madrid	\N	f	f
778776	87	G6PD	Mahidol	\N	f	f
778796	87	G6PD	Malaga	\N	f	f
778884	87	G6PD	Manhattan	\N	f	f
778984	87	G6PD	Mediterranean Haplotype	\N	f	f
778696	87	G6PD	Metaponto	\N	f	f
778822	87	G6PD	Mexico City	\N	f	f
778790	87	G6PD	Miaoli	\N	f	f
778814	87	G6PD	Minnesota, Marion, Gastonia, LeJeune	\N	f	f
778902	87	G6PD	Mira d'Aire	\N	f	f
778860	87	G6PD	Mizushima	\N	f	f
778868	87	G6PD	Montalbano	\N	f	f
778920	87	G6PD	Montpellier	\N	f	f
778754	87	G6PD	Mt Sinai	\N	f	f
778974	87	G6PD	Munich	\N	f	f
778718	87	G6PD	Murcia Oristano	\N	f	f
778704	87	G6PD	Musashino	\N	f	f
778716	87	G6PD	Namouru	\N	f	f
778788	87	G6PD	Nankang	\N	f	f
778828	87	G6PD	Nanning	\N	f	f
778784	87	G6PD	Naone	\N	f	f
778882	87	G6PD	Nara	\N	f	f
778948	87	G6PD	Nashville, Anaheim, Portici	\N	f	f
779024	87	G6PD	Neapolis	\N	f	f
779014	87	G6PD	Nice	\N	f	f
778808	87	G6PD	Nilgiri	\N	f	f
778668	87	G6PD	No name	\N	f	f
778824	87	G6PD	North Dallas	\N	f	f
778926	87	G6PD	Olomouc	\N	f	f
778876	87	G6PD	Omiya	\N	f	f
778684	87	G6PD	Orissa	\N	f	f
778866	87	G6PD	Osaka	\N	f	f
778694	87	G6PD	Palestrina	\N	f	f
778862	87	G6PD	Papua	\N	f	f
778904	87	G6PD	Partenope	\N	f	f
778986	87	G6PD	Pawnee	\N	f	f
778864	87	G6PD	Piotrkow	\N	f	f
778778	87	G6PD	Plymouth	\N	f	f
778942	87	G6PD	Praha	\N	f	f
778954	87	G6PD	Puerto Limon	\N	f	f
778760	87	G6PD	Quing Yan	\N	f	f
778820	87	G6PD	Radlowo	\N	f	f
778886	87	G6PD	Rehevot	\N	f	f
778682	87	G6PD	Rignano	\N	f	f
778924	87	G6PD	Riley	\N	f	f
778968	87	G6PD	Riverside	\N	f	f
778838	87	G6PD	Roubaix	\N	f	f
778992	87	G6PD	S. Antioco	\N	f	f
778758	87	G6PD	Salerno Pyrgos	\N	f	f
778806	87	G6PD	Santiago	\N	f	f
778990	87	G6PD	Santiago de Cuba, Morioka	\N	f	f
778736	87	G6PD	Sao Borja	\N	f	f
778856	87	G6PD	Seattle, Lodi, Modena, Ferrara II, Athens-like	\N	f	f
778874	87	G6PD	Seoul	\N	f	f
778910	87	G6PD	Serres	\N	f	f
778772	87	G6PD	Shenzen	\N	f	f
778792	87	G6PD	Shinshu	\N	f	f
778812	87	G6PD	Sibari	\N	f	f
778730	87	G6PD	Sierra Leone	\N	f	f
778670	87	G6PD	Sinnai	\N	f	f
778706	87	G6PD	Songklanagarind	\N	f	f
779028	87	G6PD	Split	\N	f	f
778832	87	G6PD	Stonybrook	\N	f	f
778846	87	G6PD	Sugao	\N	f	f
778982	87	G6PD	Sumare	\N	f	f
778678	87	G6PD	Sunderland	\N	f	f
778980	87	G6PD	Surabaya	\N	f	f
778966	87	G6PD	Suwalki	\N	f	f
778720	87	G6PD	Swansea	\N	f	f
778780	89	G6PD	Taipei, Chinese-3	\N	f	f
3564276	28	G6PD	Telti, Kobe	\N	f	f
778918	87	G6PD	Tenri	\N	f	f
778976	87	G6PD	Tokyo, Fukushima	\N	f	f
778782	87	G6PD	Toledo	\N	f	f
778928	87	G6PD	Tomah	\N	f	f
778912	87	G6PD	Tondela	\N	f	f
778898	87	G6PD	Torun	\N	f	f
778798	87	G6PD	Tsukui	\N	f	f
778722	87	G6PD	Ube Konan	\N	f	f
779000	87	G6PD	Union,Maewo, Chinese-2, Kalo	\N	f	f
778728	87	G6PD	Urayasu	\N	f	f
778964	87	G6PD	Utrecht	\N	f	f
778764	87	G6PD	Valladolid	\N	f	f
778732	87	G6PD	Vancouver	\N	f	f
778756	87	G6PD	Vanua Lava	\N	f	f
778870	87	G6PD	Viangchan, Jammu	\N	f	f
778892	87	G6PD	Villeurbanne	\N	f	f
778786	87	G6PD	Volendam	\N	f	f
778834	87	G6PD	Wayne	\N	f	f
778872	87	G6PD	West Virginia	\N	f	f
778850	87	G6PD	Wexham	\N	f	f
778946	87	G6PD	Wisconsin	\N	f	f
779020	87	G6PD	Yunan	\N	f	f
3685594	26	RYR1	c.7025A>G	\N	f	f
3685596	26	RYR1	c.7032G>C	\N	f	f
3685598	26	RYR1	c.7035C>A	\N	f	f
3685600	26	RYR1	c.7036G>A	\N	f	f
779198	87	RYR1	c.7042_7044delGAG	\N	f	f
3685604	26	RYR1	c.7043A>G	\N	f	f
779200	87	RYR1	c.7048G>A	\N	f	f
3685608	26	RYR1	c.7060G>A	\N	f	f
3685612	26	RYR1	c.7073T>A	\N	f	f
3685614	26	RYR1	c.7076G>A	\N	f	f
3685616	26	RYR1	c.7075C>T	\N	f	f
3685618	26	RYR1	c.7084G>A	\N	f	f
3685620	26	RYR1	c.7085A>G	\N	f	f
3685622	26	RYR1	c.7089C>G	\N	f	f
3685624	26	RYR1	c.7090T>G	\N	f	f
3685626	26	RYR1	c.7097C>G	\N	f	f
3685628	26	RYR1	c.7099G>A	\N	f	f
3685630	26	RYR1	c.7112A>G	\N	f	f
3685632	26	RYR1	c.7123G>A	\N	f	f
779204	87	RYR1	c.7124G>C	\N	f	f
3685636	26	RYR1	c.7199A>G	\N	f	f
3685638	26	RYR1	c.7210G>A	\N	f	f
3685642	26	RYR1	c.7291G>A	\N	f	f
3685644	26	RYR1	c.7291G>T	\N	f	f
779208	87	RYR1	c.7300G>A	\N	f	f
779210	87	RYR1	c.7304G>A	\N	f	f
3685652	26	RYR1	c.7304G>T	\N	f	f
3685654	26	RYR1	c.7307G>A	\N	f	f
3685656	26	RYR1	c.7310C>T	\N	f	f
3685658	26	RYR1	c.7317G>C	\N	f	f
779212	87	RYR1	c.7354C>T	\N	f	f
3685662	26	RYR1	c.7355G>A	\N	f	f
3685664	26	RYR1	c.7355G>C	\N	f	f
3685666	26	RYR1	c.7358T>C	\N	f	f
779214	87	RYR1	c.7360C>T	\N	f	f
779216	87	RYR1	c.7361G>A	\N	f	f
779218	87	RYR1	c.7372C>T	\N	f	f
3685676	26	RYR1	c.7373G>T	\N	f	f
3685678	26	RYR1	c.7385C>T	\N	f	f
3685680	26	RYR1	c.7487C>T	\N	f	f
779222	87	RYR1	c.7522C>T	\N	f	f
779224	87	RYR1	c.7522C>G	\N	f	f
779226	87	RYR1	c.7523G>A	\N	f	f
3685688	26	RYR1	c.7528T>C	\N	f	f
3685690	26	RYR1	c.7760A>G	\N	f	f
3685692	26	RYR1	c.7771C>G	\N	f	f
3685694	26	RYR1	c.7771C>T	\N	f	f
3685696	26	RYR1	c.7777C>G	\N	f	f
3685698	26	RYR1	c.7778G>A	\N	f	f
3685700	26	RYR1	c.7787C>T	\N	f	f
3685702	26	RYR1	c.7816T>A	\N	f	f
3685706	26	RYR1	c.7879G>A	\N	f	f
3685708	26	RYR1	c.8005G>A	\N	f	f
3685710	26	RYR1	c.8026C>T	\N	f	f
3685712	26	RYR1	c.8054C>T	\N	f	f
3685714	26	RYR1	c.8188G>C	\N	f	f
3685716	26	RYR1	c.8189A>G	\N	f	f
3685718	26	RYR1	c.8198G>A	\N	f	f
3685720	26	RYR1	c.8290G>A	\N	f	f
3685722	26	RYR1	c.8327C>T	\N	f	f
3685724	26	RYR1	c.8360C>G	\N	f	f
3685726	26	RYR1	c.8518C>T	\N	f	f
3685728	26	RYR1	c.8527T>C	\N	f	f
3685730	26	RYR1	c.8600T>A	\N	f	f
3685732	26	RYR1	c.8638G>A	\N	f	f
3685736	26	RYR1	c.8729C>T	\N	f	f
3685738	26	RYR1	c.8926C>T	\N	f	f
3685740	26	RYR1	c.9152G>A	\N	f	f
3685742	26	RYR1	c.9268G>A	\N	f	f
779228	87	RYR1	c.9310G>A	\N	f	f
3685746	26	RYR1	c.9356G>A	\N	f	f
3685748	26	RYR1	c.9499C>T	\N	f	f
3685750	26	RYR1	c.9635A>G	\N	f	f
3685752	26	RYR1	c.9649T>C	\N	f	f
3685754	26	RYR1	c.9652G>A	\N	f	f
3685756	26	RYR1	c.9676G>C	\N	f	f
3685758	26	RYR1	c.9758T>C	\N	f	f
3685760	26	RYR1	c.9797T>C	\N	f	f
3685762	26	RYR1	c.9848G>A	\N	f	f
3685766	26	RYR1	c.9868G>A	\N	f	f
3685768	26	RYR1	c.10042C>T	\N	f	f
3685770	26	RYR1	c.10043G>A	\N	f	f
3685772	26	RYR1	c.10097G>A	\N	f	f
3685774	26	RYR1	c.10100A>G	\N	f	f
3685776	26	RYR1	c.10229C>A	\N	f	f
3685778	26	RYR1	c.10237A>T	\N	f	f
3685780	26	RYR1	c.10252A>G	\N	f	f
3685782	26	RYR1	c.10556C>T	\N	f	f
3685784	26	RYR1	c.10616G>A	\N	f	f
3685786	26	RYR1	c.10747G>C	\N	f	f
3685788	26	RYR1	c.10750G>C	\N	f	f
3685790	26	RYR1	c.10891G>T	\N	f	f
3685792	26	RYR1	c.11086G>C	\N	f	f
3685796	26	RYR1	c.11126C>T	\N	f	f
3685798	26	RYR1	c.11132C>T	\N	f	f
3685800	26	RYR1	c.11266C>G	\N	f	f
3685802	26	RYR1	c.11315G>A	\N	f	f
3685804	26	RYR1	c.11314C>T	\N	f	f
3685806	26	RYR1	c.11416G>A	\N	f	f
3685808	26	RYR1	c.11518G>A	\N	f	f
3685810	26	RYR1	c.11708G>A	\N	f	f
3685812	26	RYR1	c.11723A>T	\N	f	f
3685814	26	RYR1	c.11748T>G	\N	f	f
3685816	26	RYR1	c.11798A>G	\N	f	f
3685818	26	RYR1	c.11813G>A	\N	f	f
3685820	26	RYR1	c.11947C>T	\N	f	f
3685822	26	RYR1	c.11953T>C	\N	f	f
779230	87	RYR1	c.11969G>T	\N	f	f
3685828	26	RYR1	c.12028G>A	\N	f	f
3685830	26	RYR1	c.12064A>G	\N	f	f
3685832	26	RYR1	c.12115A>T	\N	f	f
3685834	26	RYR1	c.12121C>T	\N	f	f
3685836	26	RYR1	c.12149C>A	\N	f	f
3685838	26	RYR1	c.12242C>T	\N	f	f
3685840	26	RYR1	c.12310G>C	\N	f	f
3685842	26	RYR1	c.12355A>T	\N	f	f
3685844	26	RYR1	c.12383C>T	\N	f	f
3685846	26	RYR1	c.12398A>G	\N	f	f
3685848	26	RYR1	c.12406C>A	\N	f	f
3685850	26	RYR1	c.12413T>C	\N	f	f
3685852	26	RYR1	c.12532G>A	\N	f	f
3685856	26	RYR1	c.12553G>A	\N	f	f
3685858	26	RYR1	c.12689T>G	\N	f	f
3685860	26	RYR1	c.12700G>C	\N	f	f
3685862	26	RYR1	c.12700G>T	\N	f	f
3685864	26	RYR1	c.12848A>T	\N	f	f
3685866	26	RYR1	c.12881C>T	\N	f	f
3685868	26	RYR1	c.12884C>T	\N	f	f
3685870	26	RYR1	c.13505A>G	\N	f	f
3685872	26	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;
1508725	5986619	0.926	0.9260	1
1508727	5986619	0.074	0.0740	1
1508725	5986620	0.99	0.9900	1
1508727	5986620	0.01	0.0100	1
1508725	5986621	0.8	0.8000	1
1508727	5986621	0.2	0.2000	1
1508725	5986622	0.9068	0.9068	1
1508727	5986622	0.0932	0.0932	1
1508725	5986623	0.6929	0.6929	1
1508727	5986623	0.3071	0.3071	1
1508725	5986624	0.8964	0.8964	1
1508727	5986624	0.1036	0.1036	1
1508725	5986625	0.7756	0.7756	1
1508727	5986625	0.2244	0.2244	1
1508725	5986626	0.9347	0.9347	1
1508727	5986626	0.0653	0.0653	1
1508725	5986627	0.903	0.9030	1
1508727	5986627	0.097	0.0970	1
1508725	5986628	0.893	0.8930	1
1508727	5986628	0.107	0.1070	1
1508725	5986629	0.798	0.7980	1
1508727	5986629	0.202	0.2020	1
1508725	5986630	0.561	0.5610	1
1508727	5986630	0.439	0.4390	1
1508725	5986631	1	1.0000	1
1508727	5986631	0	0.0	1
1508725	5986632	1	1.0000	1
1508727	5986632	0	0.0	1
1508725	5986633	0.987	0.9870	1
1508727	5986633	0.013	0.0130	1
1508725	5986634	0.982	0.9820	1
1508727	5986634	0.018	0.0180	1
1508725	5986635	1	1.0000	1
1508727	5986635	0	0.0	1
777265	5986636	0.00003267	3.267E-5	1
777267	5986636	\N	\N	1
777265	5986637	\N	\N	1
777267	5986637	0	0.0	1
777265	5986638	0.0001087	1.087E-4	1
777267	5986638	0	0.0	1
777265	5986639	0.00001759	1.759E-5	1
777267	5986639	\N	\N	1
777265	5986640	0	0.0	1
777267	5986640	\N	\N	1
777265	5986641	\N	\N	1
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