TITINdb

Map SAVs to Structure

Position	Domain position	SAV	Structural Position	RS	Q(SASA)	Disease	Source	MAF
35897	1	P/L	1	rs1558956138	0.1055	None	gnomAD-4.0.0	1.64727E-06
35897	1	P/S	1	rs1270719592	0.1055	None	gnomAD-4.0.0	3.29856E-06
35898	2	K/E	2	rs1028436080	0.3646	None	gnomAD-2.1.1	1.28E-05
35898	2	K/E	2	rs1028436080	0.3646	None	gnomAD-3.1.2	1.97E-05
35898	2	K/E	2	rs1028436080	0.3646	None	gnomAD-4.0.0	7.88915E-06
35898	2	K/I	2	rs774242716	0.3646	None	gnomAD-2.1.1	1.89E-05
35898	2	K/I	2	rs774242716	0.3646	None	gnomAD-3.1.2	1.31E-05
35898	2	K/I	2	rs774242716	0.3646	None	gnomAD-4.0.0	2.23475E-05
35899	3	I/T	3	rs372276487	0.1299	None	gnomAD-2.1.1	3.01E-05
35899	3	I/T	3	rs372276487	0.1299	None	gnomAD-3.1.2	6.57E-05
35899	3	I/T	3	rs372276487	0.1299	None	gnomAD-4.0.0	1.94414E-05
35901	5	A/V	5	None	0.1591	None	gnomAD-4.0.0	1.6349E-06
35902	6	L/P	7	None	0.1882	None	gnomAD-4.0.0	6.90771E-07
35903	7	P/S	8	rs1328551203	0.1771	None	gnomAD-2.1.1	4.17E-06
35903	7	P/S	8	rs1328551203	0.1771	None	gnomAD-4.0.0	1.62802E-06
35905	9	D/G	11	rs1558955826	0.4314	None	gnomAD-2.1.1	4.07E-06
35905	9	D/G	11	rs1558955826	0.4314	None	gnomAD-4.0.0	1.60915E-06
35906	10	I/N	13	None	0.0970	None	gnomAD-4.0.0	6.8735E-07
35907	11	S/I	14	rs773833357	0.1867	None	gnomAD-2.1.1	1.22E-05
35907	11	S/I	14	rs773833357	0.1867	None	gnomAD-4.0.0	8.02409E-06
35907	11	S/R	14	rs977991321	0.1867	None	gnomAD-2.1.1	7.2E-06
35907	11	S/R	14	rs977991321	0.1867	None	gnomAD-3.1.2	6.57E-06
35907	11	S/R	14	rs977991321	0.1867	None	gnomAD-4.0.0	9.32589E-06
35908	12	I/L	16	None	0.0764	None	gnomAD-4.0.0	8.92808E-06
35908	12	I/M	16	None	0.0764	None	gnomAD-4.0.0	2.05723E-06
35908	12	I/T	16	rs769141222	0.0764	None	gnomAD-2.1.1	2.87E-05
35908	12	I/T	16	rs769141222	0.0764	None	gnomAD-3.1.2	1.31E-05
35908	12	I/T	16	rs769141222	0.0764	None	gnomAD-4.0.0	6.20981E-05
35909	13	D/E	18	rs1401685434	0.3753	None	gnomAD-3.1.2	1.31E-05
35909	13	D/E	18	rs1401685434	0.3753	None	gnomAD-4.0.0	3.04467E-06
35910	14	E/K	23	rs370649675	0.5618	None	gnomAD-2.1.1	1.21E-05
35910	14	E/K	23	rs370649675	0.5618	None	gnomAD-3.1.2	3.94E-05
35910	14	E/K	23	rs370649675	0.5618	None	1000 genomes	1.99681E-04
35910	14	E/K	23	rs370649675	0.5618	None	gnomAD-4.0.0	6.82594E-06
35911	15	G/V	24	rs1194972445	0.2496	None	gnomAD-3.1.2	6.57E-06
35911	15	G/V	24	rs1194972445	0.2496	None	gnomAD-4.0.0	6.57358E-06
35913	17	V/A	26	rs771568319	0.2143	None	gnomAD-2.1.1	1.61E-05
35913	17	V/A	26	rs771568319	0.2143	None	gnomAD-4.0.0	6.37144E-06
35913	17	V/F	26	rs1468593257	0.2143	None	gnomAD-2.1.1	4.03E-06
35913	17	V/F	26	rs1468593257	0.2143	None	gnomAD-4.0.0	1.59292E-06
35913	17	V/I	26	None	0.2143	None	gnomAD-4.0.0	1.59292E-06
35913	17	V/L	26	rs1468593257	0.2143	None	gnomAD-3.1.2	6.57E-06
35913	17	V/L	26	rs1468593257	0.2143	None	gnomAD-4.0.0	6.57056E-06
35915	19	T/K	29	rs768221453	0.1793	None	gnomAD-4.0.0	3.18428E-06
35915	19	T/P	29	None	0.1793	TMD	Literature	None
35915	19	T/P	29	None	0.1793	None	gnomAD-4.0.0	1.20032E-06
35916	20	V/L	30	rs1686792927	0.1630	None	gnomAD-4.0.0	7.20193E-06
35917	21	A/V	31	rs1439320895	0.1307	None	gnomAD-2.1.1	4.03E-06
35918	22	C/S	33	rs1053743149	0.0929	None	gnomAD-3.1.2	6.57E-06
35918	22	C/S	33	rs1053743149	0.0929	None	gnomAD-4.0.0	6.57056E-06
35918	22	C/Y	33	rs193212275	0.0929	None	gnomAD-2.1.1	9.64E-05
35918	22	C/Y	33	rs193212275	0.0929	None	gnomAD-3.1.2	2.82534E-04
35918	22	C/Y	33	rs193212275	0.0929	None	1000 genomes	3.99361E-04
35918	22	C/Y	33	rs193212275	0.0929	None	gnomAD-4.0.0	5.08117E-05
35921	25	T/K	38	rs749277200	0.3963	None	gnomAD-4.0.0	6.84226E-07
35921	25	T/M	38	rs749277200	0.3963	None	gnomAD-2.1.1	4.02E-06
35921	25	T/M	38	rs749277200	0.3963	None	gnomAD-4.0.0	6.84226E-06
35922	26	G/S	40	None	0.1423	None	gnomAD-4.0.0	1.20032E-06
35923	27	E/A	41	rs2154129939	0.2595	None	gnomAD-4.0.0	4.77332E-06
35923	27	E/D	41	None	0.2595	None	gnomAD-4.0.0	1.59116E-06
35924	28	P/A	42	rs752429003	0.1547	None	gnomAD-2.1.1	4.02E-06
35924	28	P/A	42	rs752429003	0.1547	None	gnomAD-4.0.0	1.20032E-06
35925	29	T/A	43	rs781497669	0.3777	None	gnomAD-2.1.1	2.41E-05
35925	29	T/A	43	rs781497669	0.3777	None	gnomAD-4.0.0	1.64201E-05
35925	29	T/I	43	rs755111765	0.3777	None	gnomAD-2.1.1	1.21E-05
35925	29	T/I	43	rs755111765	0.3777	None	gnomAD-4.0.0	4.77315E-06
35925	29	T/S	43	None	0.3777	None	gnomAD-4.0.0	1.59105E-06
35926	30	P/L	44	rs749774302	0.1352	None	gnomAD-2.1.1	4.02E-06
35926	30	P/L	44	rs749774302	0.1352	None	gnomAD-4.0.0	3.18213E-06
35926	30	P/R	44	rs749774302	0.1352	None	gnomAD-4.0.0	1.59106E-06
35927	31	E/A	45	rs1558954742	0.5469	None	gnomAD-2.1.1	4.02E-06
35927	31	E/A	45	rs1558954742	0.5469	None	gnomAD-4.0.0	2.73663E-06
35927	31	E/K	45	rs751773148	0.5469	None	gnomAD-2.1.1	8.03E-06
35927	31	E/K	45	rs751773148	0.5469	None	gnomAD-4.0.0	3.42087E-06
35928	32	V/A	46	rs763109620	0.1529	None	gnomAD-2.1.1	4.02E-06
35928	32	V/A	46	rs763109620	0.1529	None	gnomAD-4.0.0	1.36832E-06
35928	32	V/E	46	rs763109620	0.1529	None	gnomAD-2.1.1	4.02E-06
35928	32	V/E	46	rs763109620	0.1529	None	gnomAD-3.1.2	1.31E-05
35928	32	V/E	46	rs763109620	0.1529	None	gnomAD-4.0.0	1.735E-05
35928	32	V/L	46	rs1575170744	0.1529	None	gnomAD-4.0.0	1.36832E-06
35929	33	T/K	47	rs751035844	0.2622	None	gnomAD-3.1.2	1.31E-05
35929	33	T/K	47	rs751035844	0.2622	None	gnomAD-4.0.0	3.71452E-05
35930	34	W/R	48	rs1018591024	0.1536	LGMD2J	Literature	None
35930	34	W/R	48	rs1018591024	0.1536	None	gnomAD-4.0.0	2.7366E-06
35932	36	C/S	50	rs557626982	0.2380	None	gnomAD-2.1.1	4.01E-06
35932	36	C/S	50	rs557626982	0.2380	None	gnomAD-3.1.2	6.57E-06
35932	36	C/S	50	rs557626982	0.2380	None	1000 genomes	1.99681E-04
35932	36	C/S	50	rs557626982	0.2380	None	gnomAD-4.0.0	1.36831E-06
35933	37	G/D	51	rs1686762598	0.6135	None	gnomAD-3.1.2	1.31E-05
35933	37	G/D	51	rs1686762598	0.6135	None	gnomAD-4.0.0	5.12338E-06
35933	37	G/R	51	rs1575170417	0.6135	None	gnomAD-4.0.0	1.20032E-06
35937	41	I/N	58	None	0.1527	None	gnomAD-4.0.0	6.84143E-07
35938	42	H/R	59	rs1233232821	0.5198	None	gnomAD-2.1.1	4.01E-06
35938	42	H/R	59	rs1233232821	0.5198	None	gnomAD-4.0.0	1.59089E-06
35938	42	H/Y	59	None	0.5198	None	gnomAD-4.0.0	1.59091E-06
35939	43	S/T	70	rs762284215	0.3704	None	gnomAD-2.1.1	1.07E-05
35939	43	S/T	70	rs762284215	0.3704	None	gnomAD-3.1.2	1.31E-05
35939	43	S/T	70	rs762284215	0.3704	None	gnomAD-4.0.0	9.91381E-06
35940	44	Q/H	73	None	0.5805	None	gnomAD-4.0.0	1.5909E-06
35940	44	Q/R	73	None	0.5805	None	gnomAD-4.0.0	1.20032E-06
35941	45	E/Q	109	rs777087450	1.0674	None	gnomAD-2.1.1	1.61E-05
35941	45	E/Q	109	rs777087450	1.0674	None	gnomAD-4.0.0	6.36361E-06
35942	46	Q/P	110	rs2154129874	1.0255	None	gnomAD-3.1.2	6.57E-06
35942	46	Q/P	110	rs2154129874	1.0255	None	gnomAD-4.0.0	6.56461E-06
35943	47	G/E	111	None	0.3913	None	gnomAD-4.0.0	2.40064E-06
35944	48	R/K	115	None	0.1732	None	gnomAD-4.0.0	1.20032E-06
35946	50	H/P	122	rs281864931	0.2483	TMD LGMD2J	Literature	None
35946	50	H/Y	122	rs1686745897	0.2483	None	gnomAD-4.0.0	1.36828E-06
35947	51	I/N	123	None	0.1722	None	gnomAD-2.1.1	4.01E-06
35947	51	I/N	123	None	0.1722	None	gnomAD-3.1.2	1.31E-05
35947	51	I/N	123	None	0.1722	TMD LGMD2J	Literature	None
35947	51	I/N	123	None	0.1722	None	gnomAD-4.0.0	1.11535E-05
35947	51	I/S	123	rs281864928	0.1722	None	gnomAD-4.0.0	6.8414E-07
35947	51	I/T	123	rs281864928	0.1722	None	gnomAD-2.1.1	4.01E-06
35947	51	I/T	123	rs281864928	0.1722	None	gnomAD-3.1.2	1.31E-05
35947	51	I/T	123	rs281864928	0.1722	None	gnomAD-4.0.0	3.09819E-06
35951	55	D/E	131	rs770407405	0.6846	None	gnomAD-2.1.1	3.21E-05
35951	55	D/E	131	rs770407405	0.6846	None	gnomAD-3.1.2	6.57E-06
35951	55	D/E	131	rs770407405	0.6846	None	gnomAD-4.0.0	9.91405E-06
35951	55	D/G	131	rs1212826574	0.6846	None	gnomAD-4.0.0	1.36828E-06
35953	57	L/M	135	None	0.1727	None	gnomAD-4.0.0	1.59092E-06
35953	57	L/R	135	rs794729572	0.1727	None	gnomAD-3.1.2	6.57E-06
35953	57	L/R	135	rs794729572	0.1727	None	gnomAD-4.0.0	3.84243E-06
35955	59	T/I	137	rs370267738	0.2087	None	gnomAD-4.0.0	6.84145E-07
35955	59	T/N	137	rs370267738	0.2087	None	gnomAD-2.1.1	1.2E-05
35955	59	T/N	137	rs370267738	0.2087	None	gnomAD-3.1.2	1.31E-05
35955	59	T/N	137	rs370267738	0.2087	None	gnomAD-4.0.0	7.43567E-06
35956	60	L/P	138	rs267607156	0.1108	TMD LGMD2J	Literature	None
35957	61	I/F	139	rs950902715	0.2304	None	gnomAD-2.1.1	4.01E-06
35957	61	I/F	139	rs950902715	0.2304	None	gnomAD-3.1.2	1.31E-05
35957	61	I/F	139	rs950902715	0.2304	None	gnomAD-4.0.0	2.91226E-05
35957	61	I/M	139	None	0.2304	None	gnomAD-4.0.0	6.84147E-07
35959	63	M/T	141	rs1686725786	0.3748	None	gnomAD-4.0.0	1.5909E-06
35959	63	M/V	141	rs1220326083	0.3748	None	gnomAD-2.1.1	4.01E-06
35959	63	M/V	141	rs1220326083	0.3748	None	gnomAD-4.0.0	3.42075E-06
35961	65	V/A	144	None	0.0998	None	gnomAD-4.0.0	1.20032E-06
35961	65	V/I	144	None	0.0998	None	gnomAD-2.1.1	4.01E-06
35961	65	V/I	144	None	0.0998	None	gnomAD-3.1.2	1.97E-05
35961	65	V/I	144	None	0.0998	None	gnomAD-4.0.0	9.29492E-06
35961	65	V/L	144	rs780886524	0.0998	None	gnomAD-2.1.1	1.2E-05
35961	65	V/L	144	rs780886524	0.0998	None	gnomAD-3.1.2	6.57E-06
35961	65	V/L	144	rs780886524	0.0998	None	gnomAD-4.0.0	1.85898E-06
35962	66	Q/K	145	None	0.4638	None	gnomAD-4.0.0	1.20033E-06
35963	67	K/Q	146	rs1558953226	0.5963	None	gnomAD-4.0.0	1.59094E-06
35964	68	Q/R	148	None	0.7010	None	gnomAD-4.0.0	2.05245E-06
35966	70	G/D	151	rs727505008	0.3226	None	gnomAD-2.1.1	8.03E-06
35966	70	G/D	151	rs727505008	0.3226	None	gnomAD-4.0.0	1.36832E-05
35966	70	G/S	151	rs541322681	0.3226	None	gnomAD-2.1.1	4.01E-06
35966	70	G/S	151	rs541322681	0.3226	None	gnomAD-3.1.2	1.31E-05
35966	70	G/S	151	rs541322681	0.3226	None	1000 genomes	1.99681E-04
35966	70	G/S	151	rs541322681	0.3226	None	gnomAD-4.0.0	1.31335E-05
35967	71	G/E	152	rs780316966	0.2594	None	gnomAD-2.1.1	1.2E-05
35967	71	G/E	152	rs780316966	0.2594	None	gnomAD-3.1.2	6.57E-06
35967	71	G/E	152	rs780316966	0.2594	None	gnomAD-4.0.0	6.81633E-06
35967	71	G/R	152	None	0.2594	None	gnomAD-4.0.0	2.73665E-06
35970	74	T/I	155	rs765869850	0.2130	None	gnomAD-4.0.0	2.0525E-06
35970	74	T/N	155	None	0.2130	None	gnomAD-2.1.1	8.03E-06
35970	74	T/N	155	None	0.2130	None	gnomAD-4.0.0	2.0525E-06
35970	74	T/S	155	rs765869850	0.2130	None	gnomAD-2.1.1	4.02E-06
35970	74	T/S	155	rs765869850	0.2130	None	gnomAD-4.0.0	6.84166E-07
35971	75	L/V	156	None	0.0891	None	gnomAD-4.0.0	1.59109E-06
35972	76	S/I	157	rs397517478	0.2180	None	gnomAD-2.1.1	7.85E-05
35972	76	S/I	157	rs397517478	0.2180	None	gnomAD-3.1.2	1.18304E-04
35972	76	S/I	157	rs397517478	0.2180	None	gnomAD-4.0.0	7.93177E-05
35972	76	S/N	157	None	0.2180	None	gnomAD-4.0.0	6.84175E-07
35972	76	S/R	157	None	0.2180	None	gnomAD-4.0.0	1.20033E-06
35974	78	G/R	159	rs372653064	0.2054	None	gnomAD-2.1.1	1.43E-05
35974	78	G/R	159	rs372653064	0.2054	None	gnomAD-3.1.2	1.31E-05
35974	78	G/R	159	rs372653064	0.2054	None	gnomAD-4.0.0	6.84188E-07
35978	82	G/V	164	None	0.2343	None	gnomAD-4.0.0	1.20032E-06
35979	83	S/P	165	None	0.4966	None	gnomAD-4.0.0	1.59126E-06
35979	83	S/Y	165	None	0.4966	None	gnomAD-4.0.0	1.20032E-06
35980	84	D/H	166	None	0.2872	None	gnomAD-4.0.0	1.59156E-06
35981	85	S/P	168	None	0.4598	None	gnomAD-4.0.0	1.20032E-06
35982	86	A/V	169	None	0.2233	None	gnomAD-4.0.0	1.20033E-06
35983	87	T/A	171	rs764418855	0.3258	None	gnomAD-2.1.1	4.02E-06
35983	87	T/A	171	rs764418855	0.3258	None	gnomAD-4.0.0	6.84266E-07
35983	87	T/P	171	rs764418855	0.3258	None	gnomAD-2.1.1	1.21E-05
35983	87	T/P	171	rs764418855	0.3258	None	gnomAD-4.0.0	4.78986E-06
35986	90	I/M	174	None	0.1213	None	gnomAD-4.0.0	6.84448E-07
35986	90	I/T	174	rs1060500541	0.1213	None	gnomAD-2.1.1	4.03E-06
35986	90	I/T	174	rs1060500541	0.1213	None	gnomAD-4.0.0	1.36884E-06
35987	91	H/N	175	rs2154129767	0.3751	None	gnomAD-4.0.0	4.80136E-06
35987	91	H/R	175	rs761091731	0.3751	None	gnomAD-2.1.1	4.03E-06
35987	91	H/R	175	rs761091731	0.3751	None	gnomAD-4.0.0	1.36907E-06
35988	92	I/V	177	None	1.1159	None	gnomAD-4.0.0	3.60097E-06

Position	Domain position	SAV	RS	Q(SASA)	Source	Structural Position	Disease	AlphaMissense (IC)	AlphaMissense (N2AB)	CADD	Condel	DUET	FATHMM	M-CAP	mCSM	MetaLR	MetaSVM	MPC	MutationAssessor	MutationTaster	MutPred	MVP	PolyPhen-2	PrimateAI	PROVEAN	REVEL	Rhapsody	SIFT	Zygosity	Comments	MAF	AFR	AMR	AMS	ASJ	EAS	EUR	FIN	MDE	NFE	SAS	OTH	Site Annotation	Predicted PPI	mCSM-PPI
35897	1	P/L	rs1558956138	0.1055	gnomAD-4.0.0	1	None	0.9381	0.9126	35.0	D	None	-1.44	0.047661	-0.839	0.8055	0.808	0.469182032742	4.195	1.0	0.826	0.745084277401	1.0	0.752774953842	-6.83	0.698	0.901	0.003	None	None	1.64727E-06	6.0154E-05	0	0	0	None	0	0	1.64727E-06	0	0	0	None	N	-0.723(OBSL1) -1.155(OBSCN)
35897	1	P/S	rs1270719592	0.1055	gnomAD-4.0.0	1	None	0.948	0.9292	33.0	D	None	-1.43	0.05704	-1.456	0.8055	0.808	0.466644225527	3.645	0.999947	0.8	0.721568202884	1.0	0.698459506035	-5.4	0.718	0.905	0.016	None	None	3.29856E-06	0	0	0	5.59409E-05	None	0	0	3.29856E-06	0	0	0	None	N	-0.94(OBSL1) -1.055(OBSCN)
35898	2	K/E	rs1028436080	0.3646	gnomAD-2.1.1	2	None	0.373	0.3779	34.0	N	0.38	-0.26	0.046944	0.179	0.3804	-0.2194	0.382947142725	1.705	0.966262	0.552	0.391156786388	0.98	0.641995429993	-2.63	0.358	0.347	0.094	None	None	1.28E-05	0	9.58E-05	0	0	None	0	None	1.28E-05	0	0	0	None	N	0.239(OBSL1) 0.049(OBSCN)
35898	2	K/E	rs1028436080	0.3646	gnomAD-3.1.2	2	None	0.373	0.3779	34.0	N	0.38	-0.26	0.046944	0.179	0.3804	-0.2194	0.382947142725	1.705	0.966262	0.552	0.391156786388	0.98	0.641995429993	-2.63	0.358	0.347	0.094	None	None	1.97E-05	0	1.30924E-04	0	0	None	0	0	1.97E-05	1.47E-05	0	0	None	N	0.239(OBSL1) 0.049(OBSCN)
35898	2	K/E	rs1028436080	0.3646	gnomAD-4.0.0	2	None	0.373	0.3779	34.0	N	0.38	-0.26	0.046944	0.179	0.3804	-0.2194	0.382947142725	1.705	0.966262	0.552	0.391156786388	0.98	0.641995429993	-2.63	0.358	0.347	0.094	None	None	7.88915E-06	0	7.13903E-05	0	0	None	0	0	7.88915E-06	4.90964E-06	0	0	None	N	0.239(OBSL1) 0.049(OBSCN)
35898	2	K/I	rs774242716	0.3646	gnomAD-2.1.1	2	None	0.6243	0.6436	35.0	D	0.747	-0.38	0.083448	0.548	0.447	-0.048	0.589039569719	1.975	0.956527	0.568	0.494500980894	0.999	0.61078608036	-5.3	0.482	0.65	0.005	None	None	1.89E-05	0	0	0	0	None	0	None	1.89E-05	1.63733E-04	8.15E-06	0	None	N	0.654(OBSL1) -0.253(OBSCN)
35898	2	K/I	rs774242716	0.3646	gnomAD-3.1.2	2	None	0.6243	0.6436	35.0	D	0.747	-0.38	0.083448	0.548	0.447	-0.048	0.589039569719	1.975	0.956527	0.568	0.494500980894	0.999	0.61078608036	-5.3	0.482	0.65	0.005	None	None	1.31E-05	0	0	0	0	None	1.88253E-04	0	1.31E-05	0	0	0	None	N	0.654(OBSL1) -0.253(OBSCN)
35898	2	K/I	rs774242716	0.3646	gnomAD-4.0.0	2	None	0.6243	0.6436	35.0	D	0.747	-0.38	0.083448	0.548	0.447	-0.048	0.589039569719	1.975	0.956527	0.568	0.494500980894	0.999	0.61078608036	-5.3	0.482	0.65	0.005	None	None	2.23475E-05	0	0	0	0	None	1.89358E-04	0	2.23475E-05	9.81769E-06	0	2.92672E-05	None	N	0.654(OBSL1) -0.253(OBSCN)
35899	3	I/T	rs372276487	0.1299	gnomAD-2.1.1	3	None	0.9082	0.9041	None	D	-2.598	None	None	-2.35	None	None	None	None	None	None	None	1.0	None	None	0.688	0.794	None	None	None	3.01E-05	2.09661E-04	0	0	0	None	3.64E-05	None	3.01E-05	0	1.63E-05	0	None	N	-0.311(OBSL1) -0.261(OBSCN)
35899	3	I/T	rs372276487	0.1299	gnomAD-3.1.2	3	None	0.9082	0.9041	None	D	-2.598	None	None	-2.35	None	None	None	None	None	None	None	1.0	None	None	0.688	0.794	None	None	None	6.57E-05	1.93032E-04	0	0	0	None	0	0	6.57E-05	2.94E-05	0	0	None	N	-0.311(OBSL1) -0.261(OBSCN)
35899	3	I/T	rs372276487	0.1299	gnomAD-4.0.0	3	None	0.9082	0.9041	None	D	-2.598	None	None	-2.35	None	None	None	None	None	None	None	1.0	None	None	0.688	0.794	None	None	None	1.94414E-05	1.75794E-04	0	0	0	None	0	0	1.94414E-05	8.54964E-06	7.93309E-05	1.62639E-05	None	N	-0.311(OBSL1) -0.261(OBSCN)
35901	5	A/V	None	0.1591	gnomAD-4.0.0	5	None	0.4361	0.3729	35.0	N	None	-0.25	0.023171	-0.27	0.3845	-0.2789	0.462690307121	0.845	0.999988	0.343	0.434716162284	1.0	0.621362090111	-2.77	0.342	0.547	0.139	None	None	1.6349E-06	0	0	0	0	None	0	0	1.6349E-06	0	1.48161E-05	0	None	N	-0.986(OBSL1) -1.123(OBSCN)
35902	6	L/P	None	0.1882	gnomAD-4.0.0	7	None	0.9703	0.9544	35.0	N	None	-0.2	0.040682	-0.25	0.3327	-0.3707	0.571060429895	1.205	1.0	0.476	0.754892831303	0.999	0.789255142212	-4.62	0.476	0.745	0.262	None	None	6.90771E-07	0	0	0	0	None	0	0	6.90771E-07	9.06165E-07	0	0	None	N	-1.071(OBSL1) -0.652(OBSCN)
35903	7	P/S	rs1328551203	0.1771	gnomAD-2.1.1	8	None	0.899	0.8428	31.0	N	-2.145	0.78	0.019991	-0.917	0.2392	-0.7109	0.390049637415	1.725	0.999945	0.694	0.273938319068	0.989	0.683448135853	-5.73	0.347	0.787	0.007	None	None	4.17E-06	0	0	0	5.69E-05	None	0	None	4.17E-06	0	0	0	None	I	-0.443(OBSL1) -0.438(OBSCN)
35903	7	P/S	rs1328551203	0.1771	gnomAD-4.0.0	8	None	0.899	0.8428	31.0	N	-2.145	0.78	0.019991	-0.917	0.2392	-0.7109	0.390049637415	1.725	0.999945	0.694	0.273938319068	0.989	0.683448135853	-5.73	0.347	0.787	0.007	None	None	1.62802E-06	0	0	0	2.79174E-05	None	0	0	1.62802E-06	0	0	0	None	I	-0.443(OBSL1) -0.438(OBSCN)
35905	9	D/G	rs1558955826	0.4314	gnomAD-2.1.1	11	None	0.5879	0.477	35.0	N	None	0.85	0.024751	-0.641	0.3017	-0.453	0.493693585496	2.125	0.99992	0.589	0.1749357433	0.998	0.747463405132	-4.78	0.444	0.764	0.101	None	None	4.07E-06	0	0	0	0	None	0	None	4.07E-06	0	9E-06	0	None	N	-0.422(OBSL1) -0.723(OBSCN)
35905	9	D/G	rs1558955826	0.4314	gnomAD-4.0.0	11	None	0.5879	0.477	35.0	N	None	0.85	0.024751	-0.641	0.3017	-0.453	0.493693585496	2.125	0.99992	0.589	0.1749357433	0.998	0.747463405132	-4.78	0.444	0.764	0.101	None	None	1.60915E-06	0	0	0	0	None	0	0	1.60915E-06	2.89974E-06	0	0	None	N	-0.422(OBSL1) -0.723(OBSCN)
35906	10	I/N	None	0.0970	gnomAD-4.0.0	13	None	0.8904	0.8684	35.0	N	None	-0.37	0.081021	-1.612	0.4689	-0.0325	0.585436117462	2.595	0.999051	0.592	0.892327293303	0.997	0.736503124237	-4.95	0.582	0.673	0.004	None	None	6.8735E-07	0	0	0	0	None	0	0	6.8735E-07	9.03377E-07	0	0	None	N	-1.291(OBSL1) -0.74(OBSCN)
35907	11	S/I	rs773833357	0.1867	gnomAD-2.1.1	14	None	0.2757	0.269	34.0	N	0.881	-0.28	0.035893	0.029	0.3308	-0.2102	0.38089045588	1.18	0.885571	0.451	0.623070239186	0.967	0.651485919952	-3.97	0.346	0.664	0.04	None	None	1.22E-05	0	0	0	0	None	9.91E-05	None	1.22E-05	0	0	0	None	N	-0.659(OBSL1) 0.03(OBSCN)
35907	11	S/I	rs773833357	0.1867	gnomAD-4.0.0	14	None	0.2757	0.269	34.0	N	0.881	-0.28	0.035893	0.029	0.3308	-0.2102	0.38089045588	1.18	0.885571	0.451	0.623070239186	0.967	0.651485919952	-3.97	0.346	0.664	0.04	None	None	8.02409E-06	0	0	0	0	None	0	0	8.02409E-06	0	7.2015E-05	0	None	N	-0.659(OBSL1) 0.03(OBSCN)
35907	11	S/R	rs977991321	0.1867	gnomAD-2.1.1	14	None	0.7419	0.7114	34.0	N	-0.37	-0.25	0.030013	-0.613	0.3445	-0.1513	0.417539593026	1.48	0.788348	0.409	0.426904299391	0.967	0.685350894928	-3.38	0.306	0.649	0.022	None	None	7.2E-06	0	0	0	0	None	0	None	7.2E-06	0	1.58E-05	0	None	N	-1.399(OBSL1) -0.013(OBSCN)
35907	11	S/R	rs977991321	0.1867	gnomAD-3.1.2	14	None	0.7419	0.7114	34.0	N	-0.37	-0.25	0.030013	-0.613	0.3445	-0.1513	0.417539593026	1.48	0.788348	0.409	0.426904299391	0.967	0.685350894928	-3.38	0.306	0.649	0.022	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	-1.399(OBSL1) -0.013(OBSCN)
35907	11	S/R	rs977991321	0.1867	gnomAD-4.0.0	14	None	0.7419	0.7114	34.0	N	-0.37	-0.25	0.030013	-0.613	0.3445	-0.1513	0.417539593026	1.48	0.788348	0.409	0.426904299391	0.967	0.685350894928	-3.38	0.306	0.649	0.022	None	None	9.32589E-06	0	0	0	0	None	0	0	9.32589E-06	1.19055E-05	0	1.60658E-05	None	N	-1.399(OBSL1) -0.013(OBSCN)
35908	12	I/L	None	0.0764	gnomAD-4.0.0	16	None	0.2977	0.3791	35.0	N	None	-0.28	0.022111	-1.051	0.3799	-0.2514	0.456683706047	1.085	0.996521	0.677	0.48286525802	0.993	0.64721518755	-1.37	0.326	0.305	0.076	None	None	8.92808E-06	0	0	0	0	None	0	0	8.92808E-06	1.1734E-05	0	0	None	N	-1.01(OBSL1) -1.08(OBSCN)
35908	12	I/M	None	0.0764	gnomAD-4.0.0	16	None	0.2032	0.2623	32.0	N	None	-0.38	0.01709	-0.961	0.449	-0.3362	0.468134351491	2.35	0.908063	0.722	0.406806705197	1.0	0.615653336048	-1.98	0.492	0.585	0.004	None	None	2.05723E-06	0	0	0	0	None	0	0	2.05723E-06	2.7043E-06	0	0	None	N	-1.264(OBSL1) -1.082(OBSCN)
35908	12	I/T	rs769141222	0.0764	gnomAD-2.1.1	16	None	0.3905	0.5679	None	N	-3.038	None	None	-2.176	None	None	None	None	None	None	None	1.0	None	None	0.507	0.55	None	None	None	2.87E-05	0	0	0	0	None	0	None	2.87E-05	0	6.29E-05	0	None	N	-0.937(OBSL1) -0.198(OBSCN)
35908	12	I/T	rs769141222	0.0764	gnomAD-3.1.2	16	None	0.3905	0.5679	None	N	-3.038	None	None	-2.176	None	None	None	None	None	None	None	1.0	None	None	0.507	0.55	None	None	None	1.31E-05	0	0	0	0	None	0	0	1.31E-05	2.94E-05	0	0	None	N	-0.937(OBSL1) -0.198(OBSCN)
35908	12	I/T	rs769141222	0.0764	gnomAD-4.0.0	16	None	0.3905	0.5679	None	N	-3.038	None	None	-2.176	None	None	None	None	None	None	None	1.0	None	None	0.507	0.55	None	None	None	6.20981E-05	0	0	0	0	None	0	0	6.20981E-05	8.49408E-05	0	0	None	N	-0.937(OBSL1) -0.198(OBSCN)
35909	13	D/E	rs1401685434	0.3753	gnomAD-3.1.2	18	None	0.2657	0.3163	24.5	N	None	-0.17	0.013769	-0.398	0.07	-1.0458	0.0783650798132	-0.89	0.976717	0.429	0.0611884634855	0.001	0.533985733986	-1.47	0.111	0.24	0.735	None	None	1.31E-05	4.82E-05	0	0	0	None	0	0	1.31E-05	0	0	0	None	N	-0.25(OBSL1) -0.412(OBSCN)
35909	13	D/E	rs1401685434	0.3753	gnomAD-4.0.0	18	None	0.2657	0.3163	24.5	N	None	-0.17	0.013769	-0.398	0.07	-1.0458	0.0783650798132	-0.89	0.976717	0.429	0.0611884634855	0.001	0.533985733986	-1.47	0.111	0.24	0.735	None	None	3.04467E-06	5.24054E-05	0	0	0	None	0	0	3.04467E-06	0	0	0	None	N	-0.25(OBSL1) -0.412(OBSCN)
35910	14	E/K	rs370649675	0.5618	gnomAD-2.1.1	23	None	0.1774	0.1864	None	N	0.199	None	None	-0.009	None	None	None	None	None	None	None	0.98	None	None	0.302	0.422	None	None	None	1.21E-05	1.29836E-04	2.92E-05	0	0	None	0	None	1.21E-05	0	0	0	None	N	-0.03(OBSL1) 0.032(OBSCN)
35910	14	E/K	rs370649675	0.5618	gnomAD-3.1.2	23	None	0.1774	0.1864	None	N	0.199	None	None	-0.009	None	None	None	None	None	None	None	0.98	None	None	0.302	0.422	None	None	None	3.94E-05	1.2072E-04	6.55E-05	0	0	None	0	0	3.94E-05	0	0	0	None	N	-0.03(OBSL1) 0.032(OBSCN)
35910	14	E/K	rs370649675	0.5618	1000 genomes	23	None	0.1774	0.1864	None	N	0.199	None	None	-0.009	None	None	None	None	None	None	None	0.98	None	None	0.302	0.422	None	None	None	1.99681E-04	8E-04	0	None	0	0	None	None	1.99681E-04	None	0	None	None	N	-0.03(OBSL1) 0.032(OBSCN)
35910	14	E/K	rs370649675	0.5618	gnomAD-4.0.0	23	None	0.1774	0.1864	None	N	0.199	None	None	-0.009	None	None	None	None	None	None	None	0.98	None	None	0.302	0.422	None	None	None	6.82594E-06	9.33806E-05	3.3399E-05	0	0	None	0	0	6.82594E-06	0	0	3.20657E-05	None	N	-0.03(OBSL1) 0.032(OBSCN)
35911	15	G/V	rs1194972445	0.2496	gnomAD-3.1.2	24	None	0.9191	0.9554	34.0	D	None	-1.49	0.146276	-0.429	0.747	0.7405	0.490862917705	4.07	1.0	0.89	0.936624429266	0.998	0.760776340961	-6.18	0.842	0.841	0.006	None	None	6.57E-06	0	0	0	0	None	9.42E-05	0	6.57E-06	0	0	0	None	N	-0.442(OBSL1) -0.312(OBSCN)
35911	15	G/V	rs1194972445	0.2496	gnomAD-4.0.0	24	None	0.9191	0.9554	34.0	D	None	-1.49	0.146276	-0.429	0.747	0.7405	0.490862917705	4.07	1.0	0.89	0.936624429266	0.998	0.760776340961	-6.18	0.842	0.841	0.006	None	None	6.57358E-06	0	0	0	0	None	9.42152E-05	0	6.57358E-06	0	0	0	None	N	-0.442(OBSL1) -0.312(OBSCN)
35913	17	V/A	rs771568319	0.2143	gnomAD-2.1.1	26	None	0.635	0.6076	28.7	N	-2.45	1.05	0.019231	-1.094	0.1026	-0.985	0.238504508578	0.405	0.989755	0.405	0.348983352498	0.822	0.697388887405	-2.47	0.129	0.386	0.144	None	None	1.61E-05	0	0	0	0	None	0	None	1.61E-05	0	3.56E-05	0	None	N	-0.696(OBSL1) -1.085(OBSCN)
35913	17	V/A	rs771568319	0.2143	gnomAD-4.0.0	26	None	0.635	0.6076	28.7	N	-2.45	1.05	0.019231	-1.094	0.1026	-0.985	0.238504508578	0.405	0.989755	0.405	0.348983352498	0.822	0.697388887405	-2.47	0.129	0.386	0.144	None	None	6.37144E-06	0	0	0	0	None	0	0	6.37144E-06	1.14477E-05	0	0	None	N	-0.696(OBSL1) -1.085(OBSCN)
35913	17	V/F	rs1468593257	0.2143	gnomAD-2.1.1	26	None	0.5036	0.5132	26.3	N	-1.45	1.0	0.031657	-0.744	0.1317	-0.9335	0.123537549334	1.96	0.99251	0.405	0.43912465853	0.032	0.66725808382	-3.25	0.138	0.238	0.009	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.91E-06	0	None	N	0.321(OBSL1) 0.069(OBSCN)
35913	17	V/F	rs1468593257	0.2143	gnomAD-4.0.0	26	None	0.5036	0.5132	26.3	N	-1.45	1.0	0.031657	-0.744	0.1317	-0.9335	0.123537549334	1.96	0.99251	0.405	0.43912465853	0.032	0.66725808382	-3.25	0.138	0.238	0.009	None	None	1.59292E-06	0	0	0	0	None	0	0	1.59292E-06	2.862E-06	0	0	None	N	0.321(OBSL1) 0.069(OBSCN)
35913	17	V/I	None	0.2143	gnomAD-4.0.0	26	None	0.1324	0.1478	25.4	N	None	1.01	0.02051	-0.376	0.1115	-0.8633	0.0738288861046	1.615	0.77105	0.369	0.209622950755	0.058	0.54209536314	-0.65	0.084	0.273	0.058	None	None	1.59292E-06	0	0	0	0	None	0	2.4108E-04	1.59292E-06	0	0	0	None	N	-0.691(OBSL1) -1.06(OBSCN)
35913	17	V/L	rs1468593257	0.2143	gnomAD-3.1.2	26	None	0.5841	0.6165	26.0	N	None	1.03	0.023803	-0.376	0.1063	-0.9008	0.12932477166	1.415	0.919004	0.366	0.167679373172	0.489	0.680640935898	-1.95	0.098	0.355	0.043	None	None	6.57E-06	2.41E-05	0	0	0	None	0	0	6.57E-06	0	0	0	None	N	-0.691(OBSL1) -1.06(OBSCN)
35913	17	V/L	rs1468593257	0.2143	gnomAD-4.0.0	26	None	0.5841	0.6165	26.0	N	None	1.03	0.023803	-0.376	0.1063	-0.9008	0.12932477166	1.415	0.919004	0.366	0.167679373172	0.489	0.680640935898	-1.95	0.098	0.355	0.043	None	None	6.57056E-06	2.41324E-05	0	0	0	None	0	0	6.57056E-06	0	0	0	None	N	-0.691(OBSL1) -1.06(OBSCN)
35915	19	T/K	rs768221453	0.1793	gnomAD-4.0.0	29	None	0.7269	0.7756	35.0	N	None	0.88	0.029661	-0.38	0.2275	-0.7538	0.467995876995	1.115	0.99988	0.544	0.436993770938	0.998	0.754116117954	-3.9	0.434	0.692	0.065	None	None	3.18428E-06	1.13071E-04	0	0	0	None	0	0	3.18428E-06	0	0	0	None	N	-2.693(OBSL1) -1.352(OBSCN)
35915	19	T/P	None	0.1793	http://www.ncbi.nlm.nih.gov/pubmed/27796757;	29	TMD;	0.794	0.8238	32.0	N	-0.588	0.79	0.022964	-0.041	0.3741	-0.1225	0.511807434683	3.255	0.99418	0.552	0.48286525802	0.999	0.678838849068	-3.97	0.467	0.751	0.016	comp het with E28338fs	Genetic analysis of genes in 10 TMD families; co-segregation in 2-generation family (recessive inheritance, n = 3, 3 affected (total 4)); variant prioritisation; comp het with E28338fs	None	None	None	None	None	None	None	None	None	None	None	None	None	N	-1.476(OBSL1) -0.66(OBSCN)
35915	19	T/P	None	0.1793	gnomAD-4.0.0	29	None	0.794	0.8238	32.0	N	-0.588	0.79	0.022964	-0.041	0.3741	-0.1225	0.511807434683	3.255	0.99418	0.552	0.48286525802	0.999	0.678838849068	-3.97	0.467	0.751	0.016	None	None	1.20032E-06	6.33473E-05	0	0	0	None	0	0	1.20032E-06	0	0	0	None	N	-1.476(OBSL1) -0.66(OBSCN)
35916	20	V/L	rs1686792927	0.1630	gnomAD-4.0.0	30	None	0.5962	0.5843	23.2	N	None	0.44	0.016787	-0.668	0.0487	-1.0808	0.0842505692678	-0.735	0.744064	0.524	0.293502639404	0.001	0.550713062286	-1.55	0.153	0.287	0.363	None	None	7.20193E-06	0	0	0	0	None	0	0	7.20193E-06	7.87501E-06	0	0	None	N	-1.992(OBSL1) -0.882(OBSCN)
35917	21	A/V	rs1439320895	0.1307	gnomAD-2.1.1	31	None	0.7047	0.6554	35.0	N	0.219	-0.29	0.020802	-0.375	0.2665	-0.5388	0.211646147507	0.69	0.999383	0.445	0.666169902468	0.939	0.570412635803	-2.43	0.352	0.497	0.01	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.88E-06	0	None	N	-2.356(OBSL1) -0.856(OBSCN)
35918	22	C/S	rs1053743149	0.0929	gnomAD-3.1.2	33	None	0.8349	0.8449	35.0	D	-1.763	-0.01	0.034482	-2.207	0.6276	0.4812	0.511892525395	3.98	0.999984	0.871	0.774586832184	1.0	0.674779355526	-6.43	0.645	0.807	0.011	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	-1.785(OBSL1) -1.353(OBSCN)
35918	22	C/S	rs1053743149	0.0929	gnomAD-4.0.0	33	None	0.8349	0.8449	35.0	D	-1.763	-0.01	0.034482	-2.207	0.6276	0.4812	0.511892525395	3.98	0.999984	0.871	0.774586832184	1.0	0.674779355526	-6.43	0.645	0.807	0.011	None	None	6.57056E-06	0	0	0	0	None	0	0	6.57056E-06	1.46972E-05	0	0	None	N	-1.785(OBSL1) -1.353(OBSCN)
35918	22	C/Y	rs193212275	0.0929	gnomAD-2.1.1	33	None	0.9781	0.9709	None	D	-1.373	None	None	-1.262	None	None	None	None	None	None	None	1.0	None	None	0.594	0.917	None	None	None	9.64E-05	1.07607E-03	0	0	0	None	3.27E-05	None	9.64E-05	0	0	0	None	N	-1.32(OBSL1) -0.626(OBSCN)
35918	22	C/Y	rs193212275	0.0929	gnomAD-3.1.2	33	None	0.9781	0.9709	None	D	-1.373	None	None	-1.262	None	None	None	None	None	None	None	1.0	None	None	0.594	0.917	None	None	None	2.82534E-04	1.03784E-03	0	0	0	None	0	0	2.82534E-04	0	0	0	None	N	-1.32(OBSL1) -0.626(OBSCN)
35918	22	C/Y	rs193212275	0.0929	1000 genomes	33	None	0.9781	0.9709	None	D	-1.373	None	None	-1.262	None	None	None	None	None	None	None	1.0	None	None	0.594	0.917	None	None	None	3.99361E-04	1.5E-03	0	None	0	0	None	None	3.99361E-04	None	0	None	None	N	-1.32(OBSL1) -0.626(OBSCN)
35918	22	C/Y	rs193212275	0.0929	gnomAD-4.0.0	33	None	0.9781	0.9709	None	D	-1.373	None	None	-1.262	None	None	None	None	None	None	None	1.0	None	None	0.594	0.917	None	None	None	5.08117E-05	9.8622E-04	1.66656E-05	0	0	None	0	0	5.08117E-05	0	5.49197E-05	3.20092E-05	None	N	-1.32(OBSL1) -0.626(OBSCN)
35921	25	T/K	rs749277200	0.3963	gnomAD-4.0.0	38	None	0.3035	0.2836	29.5	N	None	-0.24	0.037001	-0.637	0.21	-0.6013	0.191058906287	1.025	0.936193	0.561	0.458734620958	0.608	0.616598725319	-3.47	0.347	0.327	0.017	None	None	6.84226E-07	0	0	0	0	None	0	0	6.84226E-07	8.99463E-07	0	0	None	N	-0.446(OBSL1) 0.235(OBSCN)
35921	25	T/M	rs749277200	0.3963	gnomAD-2.1.1	38	None	0.1534	0.1713	34.0	D	0.148	-0.35	0.037523	0.018	0.4306	-0.0873	0.37754243004	2.03	0.890396	0.449	0.756686942875	0.998	0.594695985317	-3.6	0.441	0.351	0.002	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.87E-06	0	None	N	0.374(OBSL1) 0.673(OBSCN)
35921	25	T/M	rs749277200	0.3963	gnomAD-4.0.0	38	None	0.1534	0.1713	34.0	D	0.148	-0.35	0.037523	0.018	0.4306	-0.0873	0.37754243004	2.03	0.890396	0.449	0.756686942875	0.998	0.594695985317	-3.6	0.441	0.351	0.002	None	None	6.84226E-06	2.98739E-05	0	0	0	None	1.87308E-05	0	6.84226E-06	7.19571E-06	0	0	None	N	0.374(OBSL1) 0.673(OBSCN)
35922	26	G/S	None	0.1423	gnomAD-4.0.0	40	None	0.6848	0.6074	30.0	D	None	-1.29	0.028095	-1.0	0.7391	0.5544	0.463496485926	2.825	0.999993	0.853	0.580120749226	1.0	0.641981124878	-4.3	0.661	0.825	0.013	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	-1.543(OBSL1) -0.986(OBSCN)
35923	27	E/A	rs2154129939	0.2595	gnomAD-4.0.0	41	None	0.3148	0.2747	33.0	N	None	-0.26	0.037606	-0.029	0.2291	-0.6082	0.133919472872	0.575	0.935263	0.487	0.384752662912	0.174	0.471143782139	-3.93	0.248	0.487	0.024	None	None	4.77332E-06	0	0	0	0	None	0	0	4.77332E-06	8.57334E-06	0	0	None	N	-0.332(OBSL1) -0.496(OBSCN)
35923	27	E/D	None	0.2595	gnomAD-4.0.0	41	None	0.2103	0.1618	24.8	N	None	-0.26	0.012537	-0.293	0.1276	-0.9794	0.076612375576	-0.22	0.960201	0.466	0.0884992946249	0.001	0.463155329227	-1.58	0.067	0.224	0.159	None	None	1.59116E-06	0	0	0	0	None	0	0	1.59116E-06	0	0	3.02371E-05	None	N	-0.412(OBSL1) -0.415(OBSCN)
35924	28	P/A	rs752429003	0.1547	gnomAD-2.1.1	42	None	0.6148	0.5031	27.1	D	-1.238	-0.81	0.038279	-1.084	0.4956	0.1338	0.124178327786	3.17	0.998261	0.835	0.438064232554	0.767	0.464223265648	-5.73	0.552	0.321	0.025	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.86E-06	0	None	N	-0.379(OBSL1) -0.417(OBSCN)
35924	28	P/A	rs752429003	0.1547	gnomAD-4.0.0	42	None	0.6148	0.5031	27.1	D	-1.238	-0.81	0.038279	-1.084	0.4956	0.1338	0.124178327786	3.17	0.998261	0.835	0.438064232554	0.767	0.464223265648	-5.73	0.552	0.321	0.025	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	-0.379(OBSL1) -0.417(OBSCN)
35925	29	T/A	rs781497669	0.3777	gnomAD-2.1.1	43	None	0.0674	0.0691	23.9	N	-0.691	-0.25	0.041018	-0.578	0.141	-0.9429	0.0819550916224	0.085	0.994219	0.382	0.126345400529	None	0.301038384438	-2.0	0.078	0.125	0.424	None	None	2.41E-05	0	0	0	0	None	0	None	2.41E-05	0	4.43E-05	1.65618E-04	None	N	0.418(OBSL1) -0.173(OBSCN)
35925	29	T/A	rs781497669	0.3777	gnomAD-4.0.0	43	None	0.0674	0.0691	23.9	N	-0.691	-0.25	0.041018	-0.578	0.141	-0.9429	0.0819550916224	0.085	0.994219	0.382	0.126345400529	None	0.301038384438	-2.0	0.078	0.125	0.424	None	None	1.64201E-05	0	0	0	0	None	0	0	1.64201E-05	2.06865E-05	0	1.65645E-05	None	N	0.418(OBSL1) -0.173(OBSCN)
35925	29	T/I	rs755111765	0.3777	gnomAD-2.1.1	43	None	0.0869	0.0983	27.1	N	-0.07	-0.33	0.081542	-0.178	0.21	-0.8197	0.0905586785575	1.425	0.97981	0.44	0.280181792013	None	0.372544288635	-3.28	0.187	0.197	0.061	None	None	1.21E-05	0	0	0	1.6715E-04	None	0	None	1.21E-05	0	0	0	None	N	0.224(OBSL1) -0.099(OBSCN)
35925	29	T/I	rs755111765	0.3777	gnomAD-4.0.0	43	None	0.0869	0.0983	27.1	N	-0.07	-0.33	0.081542	-0.178	0.21	-0.8197	0.0905586785575	1.425	0.97981	0.44	0.280181792013	None	0.372544288635	-3.28	0.187	0.197	0.061	None	None	4.77315E-06	0	0	0	8.31901E-05	None	0	0	4.77315E-06	0	0	0	None	N	0.224(OBSL1) -0.099(OBSCN)
35925	29	T/S	None	0.3777	gnomAD-4.0.0	43	None	0.1184	0.1173	26.3	N	None	-0.26	0.043373	-0.606	0.2015	-0.8355	0.0878256601607	1.24	0.998076	0.328	0.137902524267	0.042	0.302588582039	-1.98	0.042	0.28	0.087	None	None	1.59105E-06	0	0	0	0	None	0	0	1.59105E-06	0	0	3.02371E-05	None	N	-0.255(OBSL1) -0.352(OBSCN)
35926	30	P/L	rs749774302	0.1352	gnomAD-2.1.1	44	None	0.8642	0.8367	35.0	N	-0.677	-0.57	0.060257	-0.718	0.617	0.2773	0.469182032742	3.485	0.999989	0.781	0.827018898375	1.0	0.533069610596	-6.87	0.555	0.807	0.017	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.86E-06	0	None	N	-1.241(OBSL1) -1.024(OBSCN)
35926	30	P/L	rs749774302	0.1352	gnomAD-4.0.0	44	None	0.8642	0.8367	35.0	N	-0.677	-0.57	0.060257	-0.718	0.617	0.2773	0.469182032742	3.485	0.999989	0.781	0.827018898375	1.0	0.533069610596	-6.87	0.555	0.807	0.017	None	None	3.18213E-06	0	0	0	0	None	0	0	3.18213E-06	5.71553E-06	0	0	None	N	-1.241(OBSL1) -1.024(OBSCN)
35926	30	P/R	rs749774302	0.1352	gnomAD-4.0.0	44	None	0.9701	0.9538	35.0	D	None	-0.75	0.039752	-1.033	0.7397	0.6779	0.476885664701	3.69	0.997198	0.797	0.796347251703	1.0	0.52460962534	-6.08	0.612	0.798	0.008	None	None	1.59106E-06	0	0	0	0	None	0	0	1.59106E-06	2.85776E-06	0	0	None	N	-1.45(OBSL1) -1.08(OBSCN)
35927	31	E/A	rs1558954742	0.5469	gnomAD-2.1.1	45	None	0.1494	0.1562	29.3	N	-0.175	-0.34	0.179642	-0.303	0.215	-0.6604	0.110849007013	0.815	0.644826	0.431	0.325533332567	0.081	0.364677786827	-3.11	0.198	0.408	0.1	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.86E-06	0	None	N	-1.683(OBSL1) -0.185(OBSCN)
35927	31	E/A	rs1558954742	0.5469	gnomAD-4.0.0	45	None	0.1494	0.1562	29.3	N	-0.175	-0.34	0.179642	-0.303	0.215	-0.6604	0.110849007013	0.815	0.644826	0.431	0.325533332567	0.081	0.364677786827	-3.11	0.198	0.408	0.1	None	None	2.73663E-06	0	0	0	0	None	0	0	2.73663E-06	3.59763E-06	0	0	None	N	-1.683(OBSL1) -0.185(OBSCN)
35927	31	E/K	rs751773148	0.5469	gnomAD-2.1.1	45	None	0.1186	0.1176	24.1	N	0.703	-0.28	0.08609	0.415	0.2249	-0.5763	0.117064650146	0.495	0.541887	0.584	0.243972157842	0.042	0.430088460445	-1.78	0.244	0.388	0.482	None	None	8.03E-06	0	0	0	0	None	6.54E-05	None	8.03E-06	0	0	0	None	N	-1.925(OBSL1) 0.135(OBSCN)
35927	31	E/K	rs751773148	0.5469	gnomAD-4.0.0	45	None	0.1186	0.1176	24.1	N	0.703	-0.28	0.08609	0.415	0.2249	-0.5763	0.117064650146	0.495	0.541887	0.584	0.243972157842	0.042	0.430088460445	-1.78	0.244	0.388	0.482	None	None	3.42087E-06	0	0	0	0	None	0	0	3.42087E-06	0	5.79831E-05	0	None	N	-1.925(OBSL1) 0.135(OBSCN)
35928	32	V/A	rs763109620	0.1529	gnomAD-2.1.1	46	None	0.5397	0.4797	29.2	D	-1.97	-1.03	0.547632	-1.837	0.4398	-0.0464	0.108341744055	2.17	0.702208	0.776	0.658958933578	0.052	0.331064462662	-2.87	0.547	0.507	0.098	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.86E-06	0	None	N	-1.643(OBSL1) -0.553(OBSCN)
35928	32	V/A	rs763109620	0.1529	gnomAD-4.0.0	46	None	0.5397	0.4797	29.2	D	-1.97	-1.03	0.547632	-1.837	0.4398	-0.0464	0.108341744055	2.17	0.702208	0.776	0.658958933578	0.052	0.331064462662	-2.87	0.547	0.507	0.098	None	None	1.36832E-06	0	0	0	0	None	0	0	1.36832E-06	1.79881E-06	0	0	None	N	-1.643(OBSL1) -0.553(OBSCN)
35928	32	V/E	rs763109620	0.1529	gnomAD-2.1.1	46	None	0.7945	0.7166	32.0	D	-1.5	-1.08	0.787612	-1.716	0.5808	0.3395	0.210819982291	3.085	0.976772	0.816	0.877444639343	0.484	0.327843368053	-4.3	0.685	0.737	0.003	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	4.65E-05	0	0	None	N	-1.901(OBSL1) 0.214(OBSCN)
35928	32	V/E	rs763109620	0.1529	gnomAD-3.1.2	46	None	0.7945	0.7166	32.0	D	-1.5	-1.08	0.787612	-1.716	0.5808	0.3395	0.210819982291	3.085	0.976772	0.816	0.877444639343	0.484	0.327843368053	-4.3	0.685	0.737	0.003	None	None	1.31E-05	0	0	0	0	None	1.8843E-04	0	1.31E-05	0	0	0	None	N	-1.901(OBSL1) 0.214(OBSCN)
35928	32	V/E	rs763109620	0.1529	gnomAD-4.0.0	46	None	0.7945	0.7166	32.0	D	-1.5	-1.08	0.787612	-1.716	0.5808	0.3395	0.210819982291	3.085	0.976772	0.816	0.877444639343	0.484	0.327843368053	-4.3	0.685	0.737	0.003	None	None	1.735E-05	0	0	0	0	None	4.06161E-04	0	1.735E-05	0	0	3.20215E-05	None	N	-1.901(OBSL1) 0.214(OBSCN)
35928	32	V/L	rs1575170744	0.1529	gnomAD-4.0.0	46	None	0.2867	0.2468	23.0	D	None	-0.95	0.43363	-0.585	0.3318	-0.5652	0.0822650963644	1.97	0.874515	0.718	0.352048277211	0.002	0.319073498249	-1.23	0.244	0.399	0.033	None	None	1.36832E-06	0	0	0	0	None	0	0	1.36832E-06	8.99405E-07	0	1.65645E-05	None	N	-2.081(OBSL1) -0.499(OBSCN)
35929	33	T/K	rs751035844	0.2622	gnomAD-3.1.2	47	None	0.1965	0.1889	25.4	N	-0.576	-0.25	0.547853	-0.785	0.2454	-0.7005	0.125106345075	0.895	0.92144	0.571	0.378322506985	0.042	0.424144208431	-3.21	0.265	0.537	0.127	None	None	1.31E-05	0	0	0	0	None	1.8843E-04	0	1.31E-05	0	0	0	None	N	-1.679(OBSL1) -0.527(OBSCN)
35929	33	T/K	rs751035844	0.2622	gnomAD-4.0.0	47	None	0.1965	0.1889	25.4	N	-0.576	-0.25	0.547853	-0.785	0.2454	-0.7005	0.125106345075	0.895	0.92144	0.571	0.378322506985	0.042	0.424144208431	-3.21	0.265	0.537	0.127	None	None	3.71452E-05	0	0	0	0	None	4.0792E-04	0	3.71452E-05	2.39252E-06	0	5.68796E-05	None	N	-1.679(OBSL1) -0.527(OBSCN)
35930	34	W/R	rs1018591024	0.1536	http://www.ncbi.nlm.nih.gov/pubmed/26392295;	48	LGMD2J;	0.9987	0.9983	35.0	D	-2.172	-3.97	0.787413	-2.404	0.9656	1.0903	0.615612516959	4.545	0.999891	0.904	0.942593547874	1.0	0.673992753029	-9.87	0.938	0.836	None	hom	WES prioritisation of single 5-generation CN family; co-segregation within family (recessive inheritance, n = 3, 3 affected, (6 total))	None	None	None	None	None	None	None	None	None	None	None	None	None	N	-0.843(OBSL1) -1.308(OBSCN)
35930	34	W/R	rs1018591024	0.1536	gnomAD-4.0.0	48	None	0.9987	0.9983	35.0	D	-2.172	-3.97	0.787413	-2.404	0.9656	1.0903	0.615612516959	4.545	0.999891	0.904	0.942593547874	1.0	0.673992753029	-9.87	0.938	0.836	None	None	None	2.7366E-06	0	0	0	0	None	0	0	2.7366E-06	3.59762E-06	0	0	None	N	-0.843(OBSL1) -1.308(OBSCN)
35932	36	C/S	rs557626982	0.2380	gnomAD-2.1.1	50	None	0.2085	0.2219	25.8	N	0.067	1.05	0.009656	-0.52	0.0598	-1.026	0.104501187935	0.1	0.9827	0.562	0.27132560031	0.006	0.211192041636	-4.37	0.119	0.359	0.413	None	None	4.01E-06	0	0	0	0	None	3.27E-05	None	4.01E-06	0	0	0	None	N	-0.916(OBSL1) -1.201(OBSCN)
35932	36	C/S	rs557626982	0.2380	gnomAD-3.1.2	50	None	0.2085	0.2219	25.8	N	0.067	1.05	0.009656	-0.52	0.0598	-1.026	0.104501187935	0.1	0.9827	0.562	0.27132560031	0.006	0.211192041636	-4.37	0.119	0.359	0.413	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	0	2.06954E-04	0	None	N	-0.916(OBSL1) -1.201(OBSCN)
35932	36	C/S	rs557626982	0.2380	1000 genomes	50	None	0.2085	0.2219	25.8	N	0.067	1.05	0.009656	-0.52	0.0598	-1.026	0.104501187935	0.1	0.9827	0.562	0.27132560031	0.006	0.211192041636	-4.37	0.119	0.359	0.413	None	None	1.99681E-04	0	0	None	0	0	None	None	1.99681E-04	None	1E-03	None	None	N	-0.916(OBSL1) -1.201(OBSCN)
35932	36	C/S	rs557626982	0.2380	gnomAD-4.0.0	50	None	0.2085	0.2219	25.8	N	0.067	1.05	0.009656	-0.52	0.0598	-1.026	0.104501187935	0.1	0.9827	0.562	0.27132560031	0.006	0.211192041636	-4.37	0.119	0.359	0.413	None	None	1.36831E-06	0	0	0	0	None	0	0	1.36831E-06	1.79881E-06	0	0	None	N	-0.916(OBSL1) -1.201(OBSCN)
35933	37	G/D	rs1686762598	0.6135	gnomAD-3.1.2	51	None	0.1875	0.1874	23.6	N	None	1.2	0.005439	-0.288	0.0687	-0.9559	0.162603537312	-0.575	0.609008	0.637	0.0762999501168	0.497	0.34307217598	-3.48	0.172	0.407	0.185	None	None	1.31E-05	4.83E-05	0	0	0	None	0	0	1.31E-05	0	0	0	None	N	0.897(OBSL1) 0.058(OBSCN)
35933	37	G/D	rs1686762598	0.6135	gnomAD-4.0.0	51	None	0.1875	0.1874	23.6	N	None	1.2	0.005439	-0.288	0.0687	-0.9559	0.162603537312	-0.575	0.609008	0.637	0.0762999501168	0.497	0.34307217598	-3.48	0.172	0.407	0.185	None	None	5.12338E-06	3.38238E-05	0	0	0	None	0	0	5.12338E-06	4.7849E-06	0	0	None	N	0.897(OBSL1) 0.058(OBSCN)
35933	37	G/R	rs1575170417	0.6135	gnomAD-4.0.0	51	None	0.1224	0.1005	24.7	N	None	0.88	0.009045	-0.131	0.0781	-1.0063	0.100601861765	1.1	0.791784	0.724	0.225902525712	0.002	0.318540990353	-3.79	0.067	0.394	0.057	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	0.188(OBSL1) -0.494(OBSCN)
35937	41	I/N	None	0.1527	gnomAD-4.0.0	58	None	0.6778	0.6704	35.0	N	None	-0.49	0.086839	-1.973	0.5669	0.3603	0.543461005332	2.865	0.949	0.749	0.8904792502	0.989	0.647560358047	-4.62	0.639	0.705	0.005	None	None	6.84143E-07	0	0	0	0	None	0	0	6.84143E-07	0	1.15939E-05	0	None	N	-0.703(OBSL1) -0.708(OBSCN)
35938	42	H/R	rs1233232821	0.5198	gnomAD-2.1.1	59	None	0.0625	0.0646	24.6	N	-0.379	-0.13	0.020423	-0.332	0.1167	-0.9815	0.103709207831	0.145	0.999878	0.406	0.16115917748	0.001	0.341695964336	-1.39	0.085	0.171	0.399	None	None	4.01E-06	0	0	0	0	None	0	None	4.01E-06	0	8.85E-06	0	None	N	-1.157(OBSL1) -1.572(OBSCN)
35938	42	H/R	rs1233232821	0.5198	gnomAD-4.0.0	59	None	0.0625	0.0646	24.6	N	-0.379	-0.13	0.020423	-0.332	0.1167	-0.9815	0.103709207831	0.145	0.999878	0.406	0.16115917748	0.001	0.341695964336	-1.39	0.085	0.171	0.399	None	None	1.59089E-06	0	0	0	0	None	0	0	1.59089E-06	2.85752E-06	0	0	None	N	-1.157(OBSL1) -1.572(OBSCN)
35938	42	H/Y	None	0.5198	gnomAD-4.0.0	59	None	0.0843	0.0834	25.7	N	None	-0.25	0.02763	1.204	0.1778	-0.8786	0.104607782887	0.58	0.999884	0.391	0.235664433957	0.013	0.346561491489	-1.68	0.084	0.249	0.964	None	None	1.59091E-06	0	0	0	0	None	0	0	1.59091E-06	2.85755E-06	0	0	None	N	-0.042(OBSL1) -0.181(OBSCN)
35939	43	S/T	rs762284215	0.3704	gnomAD-2.1.1	70	None	0.0829	0.0831	22.5	N	-0.396	-0.38	0.024484	-0.428	0.1469	-0.9535	0.0765124343762	1.26	0.999955	0.458	0.0762999501168	None	0.317269414663	-1.26	0.069	0.168	0.227	None	None	1.07E-05	0	0	0	1.5361E-04	None	0	None	1.07E-05	0	0	0	None	N	-1.57(OBSL1) -0.632(OBSCN)
35939	43	S/T	rs762284215	0.3704	gnomAD-3.1.2	70	None	0.0829	0.0831	22.5	N	-0.396	-0.38	0.024484	-0.428	0.1469	-0.9535	0.0765124343762	1.26	0.999955	0.458	0.0762999501168	None	0.317269414663	-1.26	0.069	0.168	0.227	None	None	1.31E-05	0	0	0	3.84615E-04	None	0	0	1.31E-05	0	0	0	None	N	-1.57(OBSL1) -0.632(OBSCN)
35939	43	S/T	rs762284215	0.3704	gnomAD-4.0.0	70	None	0.0829	0.0831	22.5	N	-0.396	-0.38	0.024484	-0.428	0.1469	-0.9535	0.0765124343762	1.26	0.999955	0.458	0.0762999501168	None	0.317269414663	-1.26	0.069	0.168	0.227	None	None	9.91381E-06	0	0	0	3.34105E-04	None	0	0	9.91381E-06	0	0	1.60082E-05	None	N	-1.57(OBSL1) -0.632(OBSCN)
35940	44	Q/H	None	0.5805	gnomAD-4.0.0	73	None	0.1614	0.1637	34.0	N	None	1.02	0.023837	-0.007	0.1185	-0.8811	0.305091704091	1.055	0.939062	0.392	0.119812018005	0.927	0.338270306587	-2.95	0.128	0.285	0.006	None	None	1.5909E-06	0	0	0	2.77269E-05	None	0	0	1.5909E-06	0	0	0	None	N	-1.205(OBSL1) 0.247(OBSCN)
35940	44	Q/R	None	0.5805	gnomAD-4.0.0	73	None	0.0799	0.0803	27.4	N	None	1.04	0.026603	0.169	0.0995	-0.9806	0.0912107094901	0.935	0.935261	0.334	0.0666544352282	0.002	0.339076727629	-2.3	0.135	0.22	0.025	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	-2.032(OBSL1) -0.23(OBSCN)
35941	45	E/Q	rs777087450	1.0674	gnomAD-2.1.1	109	None	0.121	0.116	29.8	N	-0.719	0.17	0.036145	-0.184	0.3279	-0.3732	0.274736791557	1.535	0.935874	0.34	0.299427821978	0.891	0.395382970572	-0.64	0.185	0.359	0.048	None	None	1.61E-05	0	2.9E-05	0	0	None	0	None	1.61E-05	0	2.66E-05	0	None	N	-2.328(OBSL1) -1.419(OBSCN)
35941	45	E/Q	rs777087450	1.0674	gnomAD-4.0.0	109	None	0.121	0.116	29.8	N	-0.719	0.17	0.036145	-0.184	0.3279	-0.3732	0.274736791557	1.535	0.935874	0.34	0.299427821978	0.891	0.395382970572	-0.64	0.185	0.359	0.048	None	None	6.36361E-06	0	2.28634E-05	0	0	None	1.88253E-05	0	6.36361E-06	5.71507E-06	0	0	None	N	-2.328(OBSL1) -1.419(OBSCN)
35942	46	Q/P	rs2154129874	1.0255	gnomAD-3.1.2	110	None	0.0909	0.093	26.6	N	None	-0.28	0.116812	0.141	0.235	-0.5097	0.142806008702	0.215	0.805975	0.559	0.33835085245	0.106	0.347974717617	-3.67	0.293	0.327	0.066	None	None	6.57E-06	0	0	0	1.92753E-04	None	0	0	6.57E-06	0	0	0	None	N	-0.331(OBSL1) -0.335(OBSCN)
35942	46	Q/P	rs2154129874	1.0255	gnomAD-4.0.0	110	None	0.0909	0.093	26.6	N	None	-0.28	0.116812	0.141	0.235	-0.5097	0.142806008702	0.215	0.805975	0.559	0.33835085245	0.106	0.347974717617	-3.67	0.293	0.327	0.066	None	None	6.56461E-06	0	0	0	1.93199E-04	None	0	0	6.56461E-06	0	0	0	None	N	-0.331(OBSL1) -0.335(OBSCN)
35943	47	G/E	None	0.3913	gnomAD-4.0.0	111	None	0.2556	0.2679	35.0	N	None	0.99	0.040252	-0.945	0.2124	-0.778	0.500420847697	1.73	0.999718	0.533	0.292423486923	1.0	0.715663075447	-3.0	0.41	0.684	0.012	None	None	2.40064E-06	0	0	0	0	None	0	0	2.40064E-06	1.3125E-06	0	3.66327E-05	None	N	-2.046(OBSL1) -0.21(OBSCN)
35944	48	R/K	None	0.1732	gnomAD-4.0.0	115	None	0.3309	0.3327	31.0	N	None	0.81	0.018453	-0.969	0.2723	-0.6119	0.462811898634	1.83	0.989474	0.712	0.231231049324	0.997	0.576431512833	-1.95	0.372	0.448	0.11	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	-0.358(OBSL1) -0.122(OBSCN)
35946	50	H/P	rs281864931	0.2483	http://www.ncbi.nlm.nih.gov/pubmed/19911250; http://www.ncbi.nlm.nih.gov/pubmed/25739468;	122	TMD; LGMD2J;	0.7767	0.7725	35.0	D	-0.76	-0.24	0.027264	-0.03	0.4113	-0.2013	0.540615076507	1.9	0.997857	0.588	0.531873083431	0.998	0.607649207115	-6.46	0.628	0.721	0.105	het	Genetic analysis of TTN in single 3-generation ITA family; co-segregates with disease (n = 5, 5 affected (total 7)); Domain unfolds at body temperature; eliminates binding to OBSCN-Ig1; low expression; monomeric	None	None	None	None	None	None	None	None	None	None	None	None	None	N	-1.036(OBSL1) -0.709(OBSCN)
35946	50	H/Y	rs1686745897	0.2483	gnomAD-4.0.0	122	None	0.1638	0.1657	35.0	N	None	-0.25	0.032031	0.71	0.4157	-0.2553	0.444622479715	1.475	0.99959	0.515	0.4744847356	0.993	0.660809755325	-3.88	0.424	0.442	0.374	None	None	1.36828E-06	0	0	0	0	None	0	0	1.36828E-06	0	2.31868E-05	0	None	N	-0.435(OBSL1) -0.23(OBSCN)
35947	51	I/N	None	0.1722	gnomAD-2.1.1	123	None	0.7303	0.6712	34.0	N	-1.845	-0.45	0.0823	-1.641	0.4178	0.1385	0.44813526092	2.945	0.834382	0.715	0.847875809191	0.901	0.472749561071	-4.87	0.652	0.701	0.001	None	None	4.01E-06	0	0	0	0	None	0	None	4.01E-06	0	8.85E-06	0	None	N	-0.949(OBSL1) -0.17(OBSCN)
35947	51	I/N	None	0.1722	gnomAD-3.1.2	123	None	0.7303	0.6712	34.0	N	-1.845	-0.45	0.0823	-1.641	0.4178	0.1385	0.44813526092	2.945	0.834382	0.715	0.847875809191	0.901	0.472749561071	-4.87	0.652	0.701	0.001	None	None	1.31E-05	0	0	0	0	None	0	0	1.31E-05	2.94E-05	0	0	None	N	-0.949(OBSL1) -0.17(OBSCN)
35947	51	I/N	None	0.1722	http://www.ncbi.nlm.nih.gov/pubmed/12891679; http://www.ncbi.nlm.nih.gov/pubmed/25739468; http://www.ncbi.nlm.nih.gov/pubmed/27796757;	123	TMD; LGMD2J;	0.7303	0.6712	34.0	N	-1.845	-0.45	0.0823	-1.641	0.4178	0.1385	0.44813526092	2.945	0.834382	0.715	0.847875809191	0.901	0.472749561071	-4.87	0.652	0.701	0.001	het / comp het with Q22507*	Genetic analysis of TTN in 3-generation BEL family with TMD, incomplete penetrance (n = 6, 5 affected, 1 unaffected carrier (total 9)); Genetic analysis of genes in 10 TMD families; co-segregation in 2-generation family (recessive inheritance, n = 2, 1 affected (total 3; disease state only where compound heterozygous for both I35947N and Q22507));variant prioritisation; comp het with Q22507; No significant difference in domain stability; does not affect binding to OBSCN-Ig1; normal expression; monomeric	None	None	None	None	None	None	None	None	None	None	None	None	None	N	-0.949(OBSL1) -0.17(OBSCN)
35947	51	I/N	None	0.1722	gnomAD-4.0.0	123	None	0.7303	0.6712	34.0	N	-1.845	-0.45	0.0823	-1.641	0.4178	0.1385	0.44813526092	2.945	0.834382	0.715	0.847875809191	0.901	0.472749561071	-4.87	0.652	0.701	0.001	None	None	1.11535E-05	0	0	0	0	None	0	0	1.11535E-05	1.52557E-05	0	0	None	N	-0.949(OBSL1) -0.17(OBSCN)
35947	51	I/S	rs281864928	0.1722	gnomAD-4.0.0	123	None	0.5582	0.5864	31.0	N	None	-0.42	0.088078	-2.346	0.2844	-0.324	0.26787087384	1.87	0.869968	0.622	0.812353797028	0.565	0.41625982523	-4.16	0.547	0.603	0.001	None	None	6.8414E-07	2.98686E-05	0	0	0	None	0	0	6.8414E-07	0	0	0	None	N	-0.756(OBSL1) 0.099(OBSCN)
35947	51	I/T	rs281864928	0.1722	gnomAD-2.1.1	123	None	0.1873	0.1999	27.6	D	-2.31	-0.4	0.068528	-2.121	0.259	-0.514	0.112515022476	1.795	0.629621	0.656	0.5936572826	0.008	0.491526216269	-3.35	0.394	0.322	0.003	None	None	4.01E-06	0	0	0	0	None	0	None	4.01E-06	0	8.85E-06	0	None	N	-0.901(OBSL1) 0.042(OBSCN)
35947	51	I/T	rs281864928	0.1722	gnomAD-3.1.2	123	None	0.1873	0.1999	27.6	D	-2.31	-0.4	0.068528	-2.121	0.259	-0.514	0.112515022476	1.795	0.629621	0.656	0.5936572826	0.008	0.491526216269	-3.35	0.394	0.322	0.003	None	None	1.31E-05	0	1.30907E-04	0	0	None	0	0	1.31E-05	0	0	0	None	N	-0.901(OBSL1) 0.042(OBSCN)
35947	51	I/T	rs281864928	0.1722	gnomAD-4.0.0	123	None	0.1873	0.1999	27.6	D	-2.31	-0.4	0.068528	-2.121	0.259	-0.514	0.112515022476	1.795	0.629621	0.656	0.5936572826	0.008	0.491526216269	-3.35	0.394	0.322	0.003	None	None	3.09819E-06	0	4.99983E-05	0	0	None	0	0	3.09819E-06	1.69507E-06	0	0	None	N	-0.901(OBSL1) 0.042(OBSCN)
35951	55	D/E	rs770407405	0.6846	gnomAD-2.1.1	131	None	0.1198	0.1198	25.1	N	-0.012	0.99	0.007088	-0.264	0.0365	-1.0576	0.0783650798132	-0.145	0.506754	0.567	0.0297737177859	None	0.432331979275	-1.7	0.111	0.118	0.412	None	None	3.21E-05	0	0	0	0	None	2.61438E-04	None	3.21E-05	0	0	0	None	N	-0.179(OBSL1) -0.023(OBSCN)
35951	55	D/E	rs770407405	0.6846	gnomAD-3.1.2	131	None	0.1198	0.1198	25.1	N	-0.012	0.99	0.007088	-0.264	0.0365	-1.0576	0.0783650798132	-0.145	0.506754	0.567	0.0297737177859	None	0.432331979275	-1.7	0.111	0.118	0.412	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	0	2.07469E-04	0	None	N	-0.179(OBSL1) -0.023(OBSCN)
35951	55	D/E	rs770407405	0.6846	gnomAD-4.0.0	131	None	0.1198	0.1198	25.1	N	-0.012	0.99	0.007088	-0.264	0.0365	-1.0576	0.0783650798132	-0.145	0.506754	0.567	0.0297737177859	None	0.432331979275	-1.7	0.111	0.118	0.412	None	None	9.91405E-06	0	0	0	0	None	0	0	9.91405E-06	0	1.75674E-04	0	None	N	-0.179(OBSL1) -0.023(OBSCN)
35951	55	D/G	rs1212826574	0.6846	gnomAD-4.0.0	131	None	0.167	0.1488	34.0	N	None	1.19	0.010241	-0.344	0.055	-1.0206	0.135340312128	0.445	0.953471	0.52	0.119812018005	0.165	0.421364724636	-4.15	0.175	0.277	0.01	None	None	1.36828E-06	0	0	0	0	None	0	0	1.36828E-06	1.7988E-06	0	0	None	N	-0.343(OBSL1) -0.272(OBSCN)
35953	57	L/M	None	0.1727	gnomAD-4.0.0	135	None	0.2794	0.2828	33.0	N	None	-0.26	0.01496	-0.601	0.351	-0.5552	0.436491901808	1.31	0.840504	0.412	0.567280287869	0.997	0.635621190071	-1.27	0.213	0.641	0.024	None	None	1.59092E-06	0	0	0	0	None	0	0	1.59092E-06	0	1.43271E-05	0	None	N	-0.731(OBSL1) -0.865(OBSCN)
35953	57	L/R	rs794729572	0.1727	gnomAD-3.1.2	135	None	0.6246	0.6044	None	N	None	None	None	-0.264	None	None	None	None	None	None	None	0.999	None	None	0.499	0.743	None	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	-1.961(OBSL1) -1.67(OBSCN)
35953	57	L/R	rs794729572	0.1727	gnomAD-4.0.0	135	None	0.6246	0.6044	None	N	None	None	None	-0.264	None	None	None	None	None	None	None	0.999	None	None	0.499	0.743	None	None	None	3.84243E-06	0	0	0	0	None	0	0	3.84243E-06	7.17724E-06	0	0	None	N	-1.961(OBSL1) -1.67(OBSCN)
35955	59	T/I	rs370267738	0.2087	gnomAD-4.0.0	137	None	0.7222	0.6817	35.0	N	None	-0.52	0.020411	-0.106	0.5525	0.0704	0.471254008067	2.085	0.995829	0.576	0.619797697146	1.0	0.723094582558	-4.3	0.472	0.721	0.017	None	None	6.84145E-07	0	0	0	0	None	0	0	6.84145E-07	8.99404E-07	0	0	None	N	-1.454(OBSL1) -0.348(OBSCN)
35955	59	T/N	rs370267738	0.2087	gnomAD-2.1.1	137	None	0.668	0.6271	None	N	-1.535	None	None	-1.503	None	None	None	None	None	None	None	0.884	None	None	0.349	0.391	None	None	None	1.2E-05	0	0	0	0	None	0	None	1.2E-05	0	2.65E-05	0	None	N	-1.246(OBSL1) -0.793(OBSCN)
35955	59	T/N	rs370267738	0.2087	gnomAD-3.1.2	137	None	0.668	0.6271	None	N	-1.535	None	None	-1.503	None	None	None	None	None	None	None	0.884	None	None	0.349	0.391	None	None	None	1.31E-05	0	0	0	0	None	0	0	1.31E-05	2.94E-05	0	0	None	N	-1.246(OBSL1) -0.793(OBSCN)
35955	59	T/N	rs370267738	0.2087	gnomAD-4.0.0	137	None	0.668	0.6271	None	N	-1.535	None	None	-1.503	None	None	None	None	None	None	None	0.884	None	None	0.349	0.391	None	None	None	7.43567E-06	0	1.66678E-05	0	0	None	0	0	7.43567E-06	9.32295E-06	0	0	None	N	-1.246(OBSL1) -0.793(OBSCN)
35956	60	L/P	rs267607156	0.1108	http://www.ncbi.nlm.nih.gov/pubmed/12145747; http://www.ncbi.nlm.nih.gov/pubmed/25739468;	138	TMD; LGMD2J;	0.999	0.9992	35.0	D	-1.745	-0.75	0.121089	-1.375	0.6782	0.5497	0.58691032302	3.6	1.0	0.9	0.873153760803	1.0	0.779198944569	-5.02	0.788	0.895	0.001	het	Genetic analysis of single FRA family; co-segregates within family (n = 3, 3 affected (7 total)); Severe misfolding of domain; eliminates binding to OBSCN-Ig1; low expression; monomeric	None	None	None	None	None	None	None	None	None	None	None	None	None	N	-0.747(OBSL1) -0.71(OBSCN)
35957	61	I/F	rs950902715	0.2304	gnomAD-2.1.1	139	None	0.6059	0.6697	25.2	N	-1.717	-0.27	0.027	-1.549	0.2042	-0.7528	0.152443170425	1.025	0.99347	0.502	0.46017455471	0.071	0.697404503822	-2.4	0.274	0.453	0.196	None	None	4.01E-06	0	0	0	0	None	0	None	4.01E-06	0	8.85E-06	0	None	N	-0.247(OBSL1) -0.452(OBSCN)
35957	61	I/F	rs950902715	0.2304	gnomAD-3.1.2	139	None	0.6059	0.6697	25.2	N	-1.717	-0.27	0.027	-1.549	0.2042	-0.7528	0.152443170425	1.025	0.99347	0.502	0.46017455471	0.071	0.697404503822	-2.4	0.274	0.453	0.196	None	None	1.31E-05	0	0	0	0	None	0	0	1.31E-05	2.94E-05	0	0	None	N	-0.247(OBSL1) -0.452(OBSCN)
35957	61	I/F	rs950902715	0.2304	gnomAD-4.0.0	139	None	0.6059	0.6697	25.2	N	-1.717	-0.27	0.027	-1.549	0.2042	-0.7528	0.152443170425	1.025	0.99347	0.502	0.46017455471	0.071	0.697404503822	-2.4	0.274	0.453	0.196	None	None	2.91226E-05	0	0	0	0	None	0	0	2.91226E-05	3.98348E-05	0	0	None	N	-0.247(OBSL1) -0.452(OBSCN)
35957	61	I/M	None	0.2304	gnomAD-4.0.0	139	None	0.2911	0.3373	34.0	D	None	-0.29	0.012355	-1.089	0.4669	-0.144	0.428370302332	1.965	0.991842	0.442	0.646296243553	0.998	0.648900747299	-1.88	0.286	0.614	0.031	None	None	6.84147E-07	0	0	0	2.51927E-05	None	0	0	6.84147E-07	0	0	0	None	N	-0.749(OBSL1) -0.739(OBSCN)
35959	63	M/T	rs1686725786	0.3748	gnomAD-4.0.0	141	None	0.1661	0.15	28.0	N	None	-0.16	0.056842	-0.523	0.1002	-0.9203	0.0966260119837	-0.45	0.621674	0.394	0.572071643794	None	0.656236886978	-2.83	0.355	0.131	1.0	None	None	1.5909E-06	0	2.28624E-05	0	0	None	0	0	1.5909E-06	0	0	0	None	N	0.217(OBSL1) -0.344(OBSCN)
35959	63	M/V	rs1220326083	0.3748	gnomAD-2.1.1	141	None	0.1703	0.1655	29.6	N	None	-0.22	0.042061	-0.748	0.1733	-0.8514	0.0933674357793	0.53	0.982014	0.438	0.464870050199	0.019	0.500888228416	-2.23	0.213	0.193	0.115	None	None	4.01E-06	0	0	0	0	None	0	None	4.01E-06	0	8.85E-06	0	None	N	-0.147(OBSL1) -0.821(OBSCN)
35959	63	M/V	rs1220326083	0.3748	gnomAD-4.0.0	141	None	0.1703	0.1655	29.6	N	None	-0.22	0.042061	-0.748	0.1733	-0.8514	0.0933674357793	0.53	0.982014	0.438	0.464870050199	0.019	0.500888228416	-2.23	0.213	0.193	0.115	None	None	3.42075E-06	0	0	0	0	None	0	0	3.42075E-06	4.49704E-06	0	0	None	N	-0.147(OBSL1) -0.821(OBSCN)
35961	65	V/A	None	0.0998	gnomAD-4.0.0	144	None	0.7078	0.78	31.0	N	None	-0.34	0.019311	-2.359	0.2582	-0.5106	0.213405914334	1.12	0.991511	0.664	0.652866637519	0.581	0.711508095264	-2.7	0.403	0.515	0.078	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	-0.982(OBSL1) -0.734(OBSCN)
35961	65	V/I	None	0.0998	gnomAD-2.1.1	144	None	0.1235	0.1429	None	N	-1.202	None	None	-1.037	None	None	None	None	None	None	None	0.024	None	None	0.114	0.314	None	None	None	4.01E-06	0	2.9E-05	0	0	None	0	None	4.01E-06	0	0	0	None	N	-1.469(OBSL1) -1.143(OBSCN)
35961	65	V/I	None	0.0998	gnomAD-3.1.2	144	None	0.1235	0.1429	None	N	-1.202	None	None	-1.037	None	None	None	None	None	None	None	0.024	None	None	0.114	0.314	None	None	None	1.97E-05	0	6.55E-05	0	0	None	0	0	1.97E-05	1.47E-05	0	4.79386E-04	None	N	-1.469(OBSL1) -1.143(OBSCN)
35961	65	V/I	None	0.0998	gnomAD-4.0.0	144	None	0.1235	0.1429	None	N	-1.202	None	None	-1.037	None	None	None	None	None	None	None	0.024	None	None	0.114	0.314	None	None	None	9.29492E-06	2.67023E-05	3.33367E-05	0	0	None	0	0	9.29492E-06	5.9329E-06	1.09794E-05	4.80323E-05	None	N	-1.469(OBSL1) -1.143(OBSCN)
35961	65	V/L	rs780886524	0.0998	gnomAD-2.1.1	144	None	0.7518	0.8087	25.9	D	-1.197	-0.53	0.019564	-1.037	0.285	-0.4101	0.128232897494	1.915	0.936134	0.596	0.503311249505	0.201	0.695324897766	-2.08	0.344	0.489	0.014	None	None	1.2E-05	0	0	0	0	None	0	None	1.2E-05	0	1.77E-05	1.65235E-04	None	N	-1.469(OBSL1) -1.143(OBSCN)
35961	65	V/L	rs780886524	0.0998	gnomAD-3.1.2	144	None	0.7518	0.8087	25.9	D	-1.197	-0.53	0.019564	-1.037	0.285	-0.4101	0.128232897494	1.915	0.936134	0.596	0.503311249505	0.201	0.695324897766	-2.08	0.344	0.489	0.014	None	None	6.57E-06	0	0	0	0	None	9.43E-05	0	6.57E-06	0	0	0	None	N	-1.469(OBSL1) -1.143(OBSCN)
35961	65	V/L	rs780886524	0.0998	gnomAD-4.0.0	144	None	0.7518	0.8087	25.9	D	-1.197	-0.53	0.019564	-1.037	0.285	-0.4101	0.128232897494	1.915	0.936134	0.596	0.503311249505	0.201	0.695324897766	-2.08	0.344	0.489	0.014	None	None	1.85898E-06	0	0	0	0	None	0	0	1.85898E-06	2.54267E-06	0	0	None	N	-1.469(OBSL1) -1.143(OBSCN)
35962	66	Q/K	None	0.4638	gnomAD-4.0.0	145	None	0.0897	0.0918	24.0	N	None	-0.2	0.027002	-0.36	0.1623	-0.8511	0.106758586637	-0.12	0.795383	0.601	0.141422826196	None	0.429035425186	-1.56	0.145	0.105	0.512	None	None	1.20033E-06	0	0	0	0	None	0	0	1.20033E-06	1.31252E-06	0	0	None	N	-0.827(OBSL1) -0.644(OBSCN)
35963	67	K/Q	rs1558953226	0.5963	gnomAD-4.0.0	146	None	0.1677	0.169	32.0	N	None	0.97	0.032289	0.028	0.1383	-0.7255	0.277238113227	0.975	0.68622	0.452	0.132336055621	0.92	0.566154003143	-2.2	0.158	0.38	0.099	None	None	1.59094E-06	0	0	0	2.77285E-05	None	0	0	1.59094E-06	0	0	0	None	N	0.298(OBSL1) -0.354(OBSCN)
35964	68	Q/R	None	0.7010	gnomAD-4.0.0	148	None	0.1218	0.1176	32.0	N	None	1.03	0.017729	0.259	0.0869	-0.957	0.0949806336427	0.515	0.659961	0.483	0.0716867268079	0.042	0.422596633434	-1.97	0.102	0.204	0.299	None	None	2.05245E-06	0	0	0	0	None	0	0	2.05245E-06	2.69821E-06	0	0	None	N	-0.48(OBSL1) -0.448(OBSCN)
35966	70	G/D	rs727505008	0.3226	gnomAD-2.1.1	151	None	0.5565	0.5476	35.0	N	-0.264	-0.2	0.022575	-0.2	0.3117	-0.4529	0.468149740272	1.19	0.997575	0.443	0.347217280506	0.997	0.601072728634	-4.18	0.363	0.777	0.008	None	None	8.03E-06	0	0	0	0	None	0	None	8.03E-06	0	1.77E-05	0	None	N	-0.169(OBSL1) 0.119(OBSCN)
35966	70	G/D	rs727505008	0.3226	gnomAD-4.0.0	151	None	0.5565	0.5476	35.0	N	-0.264	-0.2	0.022575	-0.2	0.3117	-0.4529	0.468149740272	1.19	0.997575	0.443	0.347217280506	0.997	0.601072728634	-4.18	0.363	0.777	0.008	None	None	1.36832E-05	0	0	0	0	None	0	0	1.36832E-05	1.61894E-05	1.15942E-05	1.6564E-05	None	N	-0.169(OBSL1) 0.119(OBSCN)
35966	70	G/S	rs541322681	0.3226	gnomAD-2.1.1	151	None	0.1169	0.119	34.0	N	-0.735	-0.06	0.046261	-0.788	0.1536	-0.6226	0.271573986146	0.07	0.999865	0.401	0.223847106136	0.955	0.49165481329	-3.13	0.339	0.433	0.107	None	None	4.01E-06	0	0	0	0	None	3.27E-05	None	4.01E-06	0	0	0	None	N	-0.267(OBSL1) -0.077(OBSCN)
35966	70	G/S	rs541322681	0.3226	gnomAD-3.1.2	151	None	0.1169	0.119	34.0	N	-0.735	-0.06	0.046261	-0.788	0.1536	-0.6226	0.271573986146	0.07	0.999865	0.401	0.223847106136	0.955	0.49165481329	-3.13	0.339	0.433	0.107	None	None	1.31E-05	0	6.55E-05	0	0	None	0	0	1.31E-05	0	2.07125E-04	0	None	N	-0.267(OBSL1) -0.077(OBSCN)
35966	70	G/S	rs541322681	0.3226	1000 genomes	151	None	0.1169	0.119	34.0	N	-0.735	-0.06	0.046261	-0.788	0.1536	-0.6226	0.271573986146	0.07	0.999865	0.401	0.223847106136	0.955	0.49165481329	-3.13	0.339	0.433	0.107	None	None	1.99681E-04	0	0	None	0	0	None	None	1.99681E-04	None	1E-03	None	None	N	-0.267(OBSL1) -0.077(OBSCN)
35966	70	G/S	rs541322681	0.3226	gnomAD-4.0.0	151	None	0.1169	0.119	34.0	N	-0.735	-0.06	0.046261	-0.788	0.1536	-0.6226	0.271573986146	0.07	0.999865	0.401	0.223847106136	0.955	0.49165481329	-3.13	0.339	0.433	0.107	None	None	1.31335E-05	0	6.5368E-05	0	0	None	0	0	1.31335E-05	0	2.07297E-04	0	None	N	-0.267(OBSL1) -0.077(OBSCN)
35967	71	G/E	rs780316966	0.2594	gnomAD-2.1.1	152	None	0.847	0.8681	34.0	D	-0.912	-1.12	0.04397	-0.945	0.7971	0.8162	0.526218639335	4.19	0.999997	0.907	0.8637817974	1.0	0.706013441086	-5.73	0.588	0.867	0.002	None	None	1.2E-05	0	0	0	0	None	0	None	1.2E-05	0	2.66E-05	0	None	N	-2.074(OBSL1) -1.416(OBSCN)
35967	71	G/E	rs780316966	0.2594	gnomAD-3.1.2	152	None	0.847	0.8681	34.0	D	-0.912	-1.12	0.04397	-0.945	0.7971	0.8162	0.526218639335	4.19	0.999997	0.907	0.8637817974	1.0	0.706013441086	-5.73	0.588	0.867	0.002	None	None	6.57E-06	0	0	0	0	None	0	0	6.57E-06	1.47E-05	0	0	None	N	-2.074(OBSL1) -1.416(OBSCN)
35967	71	G/E	rs780316966	0.2594	gnomAD-4.0.0	152	None	0.847	0.8681	34.0	D	-0.912	-1.12	0.04397	-0.945	0.7971	0.8162	0.526218639335	4.19	0.999997	0.907	0.8637817974	1.0	0.706013441086	-5.73	0.588	0.867	0.002	None	None	6.81633E-06	0	0	0	0	None	0	0	6.81633E-06	9.32316E-06	0	0	None	N	-2.074(OBSL1) -1.416(OBSCN)
35967	71	G/R	None	0.2594	gnomAD-4.0.0	152	None	0.8436	0.8474	32.0	D	None	-1.11	0.036128	-0.811	0.7971	0.8162	0.506463245118	4.19	0.999997	0.935	0.894262144695	1.0	0.718026518822	-5.73	0.563	0.866	0.002	None	None	2.73665E-06	0	0	0	0	None	0	0	2.73665E-06	3.59764E-06	0	0	None	N	-2.279(OBSL1) -1.612(OBSCN)
35970	74	T/I	rs765869850	0.2130	gnomAD-4.0.0	155	None	0.2581	0.2501	35.0	N	None	0.81	0.020761	-0.652	0.309	-0.5479	0.466674898207	1.93	0.994787	0.626	0.433713641954	0.999	0.712170958519	-4.17	0.378	0.765	0.006	None	None	2.0525E-06	0	0	0	0	None	0	0	2.0525E-06	2.69823E-06	0	0	None	N	-1.097(OBSL1) -0.06(OBSCN)
35970	74	T/N	None	0.2130	gnomAD-2.1.1	155	None	0.2459	0.2439	35.0	N	-0.791	0.75	0.019127	-0.892	0.3403	-0.4298	0.455635805992	2.475	0.994177	0.6	0.405979908929	0.999	0.670504808426	-3.38	0.385	0.656	0.007	None	None	8.03E-06	0	0	0	0	None	6.54E-05	None	8.03E-06	0	0	0	None	N	-0.763(OBSL1) -0.257(OBSCN)
35970	74	T/N	None	0.2130	gnomAD-4.0.0	155	None	0.2459	0.2439	35.0	N	-0.791	0.75	0.019127	-0.892	0.3403	-0.4298	0.455635805992	2.475	0.994177	0.6	0.405979908929	0.999	0.670504808426	-3.38	0.385	0.656	0.007	None	None	2.0525E-06	0	0	0	2.51927E-05	None	0	0	2.0525E-06	0	2.319E-05	0	None	N	-0.763(OBSL1) -0.257(OBSCN)
35970	74	T/S	rs765869850	0.2130	gnomAD-2.1.1	155	None	0.162	0.1745	34.0	N	-1.237	0.85	0.029187	-1.28	0.2033	-0.7372	0.183131222746	1.455	0.943853	0.609	0.177238962908	0.905	0.613435149193	-2.7	0.272	0.393	0.085	None	None	4.02E-06	0	0	0	0	None	0	None	4.02E-06	0	8.86E-06	0	None	N	-0.901(OBSL1) -0.039(OBSCN)
35970	74	T/S	rs765869850	0.2130	gnomAD-4.0.0	155	None	0.162	0.1745	34.0	N	-1.237	0.85	0.029187	-1.28	0.2033	-0.7372	0.183131222746	1.455	0.943853	0.609	0.177238962908	0.905	0.613435149193	-2.7	0.272	0.393	0.085	None	None	6.84166E-07	0	0	0	0	None	0	0	6.84166E-07	8.9941E-07	0	0	None	N	-0.901(OBSL1) -0.039(OBSCN)
35971	75	L/V	None	0.0891	gnomAD-4.0.0	156	None	0.1825	0.2037	32.0	N	None	1.05	0.018035	-1.633	0.2183	-0.7653	0.465770963553	1.145	0.982782	0.573	0.430239905395	0.999	0.590464174747	-1.95	0.302	0.709	0.252	None	None	1.59109E-06	0	0	0	0	None	0	0	1.59109E-06	2.85765E-06	0	0	None	N	-1.257(OBSL1) -1.035(OBSCN)
35972	76	S/I	rs397517478	0.2180	gnomAD-2.1.1	157	None	0.1617	0.1611	None	N	-0.108	None	None	-0.441	None	None	None	None	None	None	None	0.213	None	None	0.245	0.607	None	None	None	7.85E-05	4.13E-05	0	0	5.12E-05	None	9.81E-05	None	7.85E-05	0	1.01311E-04	5.6164E-04	None	N	-0.652(OBSL1) -0.28(OBSCN)
35972	76	S/I	rs397517478	0.2180	gnomAD-3.1.2	157	None	0.1617	0.1611	None	N	-0.108	None	None	-0.441	None	None	None	None	None	None	None	0.213	None	None	0.245	0.607	None	None	None	1.18304E-04	2.41E-05	0	0	1.92308E-04	None	0	0	1.18304E-04	2.35218E-04	0	0	None	N	-0.652(OBSL1) -0.28(OBSCN)
35972	76	S/I	rs397517478	0.2180	gnomAD-4.0.0	157	None	0.1617	0.1611	None	N	-0.108	None	None	-0.441	None	None	None	None	None	None	None	0.213	None	None	0.245	0.607	None	None	None	7.93177E-05	4.00449E-05	0	0	2.22747E-05	None	0	2.30112E-03	7.93177E-05	6.69577E-05	2.41562E-04	1.44078E-04	None	N	-0.652(OBSL1) -0.28(OBSCN)
35972	76	S/N	None	0.2180	gnomAD-4.0.0	157	None	0.1532	0.1606	23.4	N	None	-0.23	0.011191	-0.826	0.1287	-0.9328	0.0781518737448	0.155	0.831617	0.461	0.193865811164	0.001	0.408908545971	-1.02	0.103	0.197	0.119	None	None	6.84175E-07	0	0	0	0	None	0	0	6.84175E-07	8.9942E-07	0	0	None	N	-0.447(OBSL1) -0.887(OBSCN)
35972	76	S/R	None	0.2180	gnomAD-4.0.0	157	None	0.3594	0.3675	24.1	N	None	-0.18	0.012789	-0.602	0.1222	-0.9599	0.118610195964	-0.265	0.975491	0.522	0.200317383148	0.101	0.413396716118	-1.75	0.222	0.471	0.165	None	None	1.20033E-06	6.33473E-05	0	0	0	None	0	0	1.20033E-06	0	0	0	None	N	-1.147(OBSL1) -0.943(OBSCN)
35974	78	G/R	rs372653064	0.2054	gnomAD-2.1.1	159	None	0.2102	0.1935	26.8	N	-0.287	-0.18	0.038302	-0.71	0.1384	-0.657	0.250075351218	-0.87	0.670518	0.41	0.514015564596	0.81	0.659584522247	-4.47	0.239	0.689	0.059	None	None	1.43E-05	0	0	0	0	None	0	None	1.43E-05	0	1.56E-05	2.80978E-04	None	N	-2.196(OBSL1) -1.611(OBSCN)
35974	78	G/R	rs372653064	0.2054	gnomAD-3.1.2	159	None	0.2102	0.1935	26.8	N	-0.287	-0.18	0.038302	-0.71	0.1384	-0.657	0.250075351218	-0.87	0.670518	0.41	0.514015564596	0.81	0.659584522247	-4.47	0.239	0.689	0.059	None	None	1.31E-05	4.83E-05	0	0	0	None	0	0	1.31E-05	0	0	0	None	N	-2.196(OBSL1) -1.611(OBSCN)
35974	78	G/R	rs372653064	0.2054	gnomAD-4.0.0	159	None	0.2102	0.1935	26.8	N	-0.287	-0.18	0.038302	-0.71	0.1384	-0.657	0.250075351218	-0.87	0.670518	0.41	0.514015564596	0.81	0.659584522247	-4.47	0.239	0.689	0.059	None	None	6.84188E-07	0	0	0	0	None	0	0	6.84188E-07	8.99431E-07	0	0	None	N	-2.196(OBSL1) -1.611(OBSCN)
35978	82	G/V	None	0.2343	gnomAD-4.0.0	164	None	0.9409	0.9531	34.0	D	None	-0.9	0.018744	-0.419	0.7415	0.6655	0.518063289252	4.11	1.0	0.924	0.925565434573	1.0	0.655028045177	-6.45	0.571	0.835	None	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	-0.948(OBSL1) -0.769(OBSCN)
35979	83	S/P	None	0.4966	gnomAD-4.0.0	165	None	0.7331	0.721	33.0	N	None	-0.36	0.036641	-0.355	0.4521	0.2728	0.421681856761	2.685	0.670738	0.487	0.37262878642	0.966	0.530196428299	-3.35	0.456	0.476	0.015	None	None	1.59126E-06	0	0	0	0	None	0	0	1.59126E-06	2.85789E-06	0	0	None	N	0.09(OBSL1) 0.116(OBSCN)
35979	83	S/Y	None	0.4966	gnomAD-4.0.0	165	None	0.2148	0.2129	34.0	D	None	-0.36	0.052249	-0.815	0.4623	0.2076	0.375859381758	2.755	0.839387	0.503	0.653374280352	0.876	0.583375394344	-3.7	0.487	0.581	0.003	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	0.423(OBSL1) 0.494(OBSCN)
35980	84	D/H	None	0.2872	gnomAD-4.0.0	166	None	0.7893	0.768	33.0	N	None	-0.32	0.02357	-0.287	0.5636	0.1273	0.503932569898	2.885	0.999959	0.469	0.465633601861	1.0	0.691321372986	-5.02	0.425	0.751	0.005	None	None	1.59156E-06	0	0	0	0	None	0	0	1.59156E-06	2.85827E-06	0	0	None	N	-1.341(OBSL1) 0.548(OBSCN)
35981	85	S/P	None	0.4598	gnomAD-4.0.0	168	None	0.9614	0.9333	35.0	N	None	-0.36	0.032934	-0.31	0.5162	0.1867	0.483499092806	2.91	0.949427	0.471	0.40318662893	0.999	0.53069961071	-3.08	0.374	0.702	0.094	None	None	1.20032E-06	0	0	0	0	None	0	0	1.20032E-06	1.3125E-06	0	0	None	N	-0.721(OBSL1) -0.053(OBSCN)
35982	86	A/V	None	0.2233	gnomAD-4.0.0	169	None	0.5468	0.4705	35.0	N	None	-0.37	0.010939	-0.399	0.3773	-0.3455	0.363313273458	1.605	0.999825	0.58	0.576907859032	0.992	0.687664806843	-2.63	0.424	0.557	0.129	None	None	1.20033E-06	0	0	0	0	None	0	0	1.20033E-06	1.31251E-06	0	0	None	N	-2.166(OBSL1) -0.789(OBSCN)
35983	87	T/A	rs764418855	0.3258	gnomAD-2.1.1	171	None	0.1278	0.1206	26.6	D	-0.987	-0.28	0.040121	-0.372	0.2492	-0.7025	0.152912070521	1.86	0.934546	0.401	0.197625483188	0.454	0.497752130032	-3.28	0.222	0.46	0.008	None	None	4.02E-06	0	0	0	0	None	3.27E-05	None	4.02E-06	0	0	0	None	N	-0.8(OBSL1) -0.08(OBSCN)
35983	87	T/A	rs764418855	0.3258	gnomAD-4.0.0	171	None	0.1278	0.1206	26.6	D	-0.987	-0.28	0.040121	-0.372	0.2492	-0.7025	0.152912070521	1.86	0.934546	0.401	0.197625483188	0.454	0.497752130032	-3.28	0.222	0.46	0.008	None	None	6.84266E-07	0	0	0	0	None	0	0	6.84266E-07	0	1.16001E-05	0	None	N	-0.8(OBSL1) -0.08(OBSCN)
35983	87	T/P	rs764418855	0.3258	gnomAD-2.1.1	171	None	0.4435	0.3841	33.0	N	-0.702	-0.36	0.040529	-0.142	0.3825	-0.3259	0.400879900696	2.605	0.78307	0.549	0.479744053436	0.966	0.492136985064	-4.13	0.492	0.625	0.004	None	None	1.21E-05	0	0	0	0	None	0	None	1.21E-05	0	1.77E-05	1.66389E-04	None	N	-0.992(OBSL1) -0.091(OBSCN)
35983	87	T/P	rs764418855	0.3258	gnomAD-4.0.0	171	None	0.4435	0.3841	33.0	N	-0.702	-0.36	0.040529	-0.142	0.3825	-0.3259	0.400879900696	2.605	0.78307	0.549	0.479744053436	0.966	0.492136985064	-4.13	0.492	0.625	0.004	None	None	4.78986E-06	0	2.23654E-05	0	0	None	0	0	4.78986E-06	5.39696E-06	0	0	None	N	-0.992(OBSL1) -0.091(OBSCN)
35986	90	I/M	None	0.1213	gnomAD-4.0.0	174	None	0.4855	0.5115	32.0	N	None	0.88	0.016272	-1.119	0.2152	-0.8319	0.446624210647	2.165	0.80662	0.501	0.44750879378	0.997	0.664708971977	-2.02	0.319	0.717	0.004	None	None	6.84448E-07	0	0	0	0	None	0	0	6.84448E-07	8.99656E-07	0	0	None	N	-1.243(OBSL1) -1.08(OBSCN)
35986	90	I/T	rs1060500541	0.1213	gnomAD-2.1.1	174	None	0.9746	0.9758	35.0	N	-3.068	0.85	0.030671	-2.904	0.3177	-0.3539	0.425459320428	2.585	0.995174	0.685	0.636217269286	0.978	0.783798277378	-3.45	0.445	0.752	0.003	None	None	4.03E-06	0	2.91E-05	0	0	None	0	None	4.03E-06	0	0	0	None	N	-0.777(OBSL1) -0.537(OBSCN)
35986	90	I/T	rs1060500541	0.1213	gnomAD-4.0.0	174	None	0.9746	0.9758	35.0	N	-3.068	0.85	0.030671	-2.904	0.3177	-0.3539	0.425459320428	2.585	0.995174	0.685	0.636217269286	0.978	0.783798277378	-3.45	0.445	0.752	0.003	None	None	1.36884E-06	0	4.47467E-05	0	0	None	0	0	1.36884E-06	0	0	0	None	N	-0.777(OBSL1) -0.537(OBSCN)
35987	91	H/N	rs2154129767	0.3751	gnomAD-4.0.0	175	None	0.0445	0.0481	24.3	N	None	-0.18	0.045423	-0.172	0.1307	-0.9359	0.0915661879569	0.12	0.954821	0.337	0.242825505644	None	0.345727920532	0.36	0.113	0.097	0.537	None	None	4.80136E-06	0	0	0	0	None	0	0	4.80136E-06	5.25009E-06	0	0	None	N	-0.332(OBSL1) -0.321(OBSCN)
35987	91	H/R	rs761091731	0.3751	gnomAD-2.1.1	175	None	0.1107	0.1348	25.6	N	-0.778	-0.2	0.016569	-0.741	0.1305	-0.9595	0.103709207831	0.46	0.978444	0.423	0.235038932564	0.003	0.3613063097	-2.03	0.073	0.213	0.301	None	None	4.03E-06	0	0	0	0	None	0	None	4.03E-06	0	8.89E-06	0	None	N	-1.72(OBSL1) -1.595(OBSCN)
35987	91	H/R	rs761091731	0.3751	gnomAD-4.0.0	175	None	0.1107	0.1348	25.6	N	-0.778	-0.2	0.016569	-0.741	0.1305	-0.9595	0.103709207831	0.46	0.978444	0.423	0.235038932564	0.003	0.3613063097	-2.03	0.073	0.213	0.301	None	None	1.36907E-06	0	0	0	0	None	0	0	1.36907E-06	8.99774E-07	0	1.65711E-05	None	N	-1.72(OBSL1) -1.595(OBSCN)
35988	92	I/V	None	1.1159	gnomAD-4.0.0	177	None	0.1511	0.1622	25.9	N	None	0.38	0.010765	-1.395	0.0974	-0.9618	0.0755703703137	-0.415	0.707294	0.548	0.380901646489	0.006	0.584225773811	-0.65	0.098	0.392	0.148	None	None	3.60097E-06	0	0	0	0	None	0	0	3.60097E-06	3.93751E-06	0	0	None	N	-0.752(OBSL1) -0.368(OBSCN)

Whole Population MAF	African (AFR)	Latin American (AMR)
Amish (AMS)	Ashkenazi Jewish (ASJ)	East Asian (EAS)
European/1KGP (EUR)	Finnish (FIN)	Middle Eastern (MDE)
Non-Finnish European (NFE)	South Asian (SAS)	Other (OTH)

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