Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AFDN_chr6_167821911_167977023	167969868	A A	C C	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01496.hp1 HG01975.hp1 HG01361.hp1 HG01496.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0171 a0001c0002t0001g0207 a0001c0002t0001g0166 a0001c0002t0001g0171 a0001c0002t0001g0207	3	324	0.0093	c.542 others(4): Show c.5429A>C	p.Asp others(7): Show p.Asp1810Ala	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	34/34	5651/7806	5429/5496	1810/1831	chr6	TogoVar
AFF1_chr4_86930011_87146039	86948544	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0032 a0010c0032	a0010c0032t0011 a0010c0032t0011	a0010c0032t0011g0105 a0010c0032t0011g0105	1	292	0.0034	c.11C others(2): Show c.11C>T	p.Thr others(4): Show p.Thr4Ile	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/21	277/9261	11/3657	4/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87046171	A A	T T	missense_variant missense_variant	MODERATE	HG00673.hp2 HG00673.hp2	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0010 a0005c0031t0010	a0005c0031t0010g0162 a0005c0031t0010g0162	1	292	0.0034	c.44A others(2): Show c.44A>T	p.Tyr others(5): Show p.Tyr15Phe	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	3/21	310/9261	44/3657	15/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87046774	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0037 a0009c0029t0037	a0009c0029t0037g0001 a0009c0029t0037g0001	1	292	0.0034	c.239 others(3): Show c.239C>T	p.Thr others(5): Show p.Thr80Ile	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	505/9261	239/3657	80/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87047010	G G	A A	missense_variant missense_variant	MODERATE	NA18940.hp1 NA19081.hp2 NA18940.hp1 NA19081.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0004 a0003c0009t0004	a0003c0009t0004g0059 a0003c0009t0004g0225 a0003c0009t0004g0059 a0003c0009t0004g0225	2	292	0.0068	c.475 others(3): Show c.475G>A	p.Gly others(6): Show p.Gly159Ser	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	741/9261	475/3657	159/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87047013	C C	A A	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0070 a0016c0013t0070	a0016c0013t0070g0010 a0016c0013t0070g0010	1	292	0.0034	c.478 others(3): Show c.478C>A	p.Pro others(6): Show p.Pro160Thr	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	744/9261	478/3657	160/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87047181	C C	G G	missense_variant missense_variant	MODERATE	NA19058.hp1 NA19058.hp1	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0003 a0015c0027t0003	a0015c0027t0003g0047 a0015c0027t0003g0047	1	292	0.0034	c.646 others(3): Show c.646C>G	p.Pro others(6): Show p.Pro216Ala	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	912/9261	646/3657	216/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87047198	A A	G G	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0035 a0017c0026t0035	a0017c0026t0035g0260 a0017c0026t0035g0260	1	292	0.0034	c.663 others(3): Show c.663A>G	p.Ile others(6): Show p.Ile221Met	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	4/21	929/9261	663/3657	221/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87108226	A A	T T	missense_variant missense_variant	MODERATE	NA18981.hp1 NA18981.hp1	a0014 a0014	a0014c0024 a0014c0024	a0014c0024t0001 a0014c0024t0001	a0014c0024t0001g0150 a0014c0024t0001g0150	1	292	0.0034	c.144 others(4): Show c.1444A>T	p.Ser others(6): Show p.Ser482Cys	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	11/21	1710/9261	1444/3657	482/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87114434	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0015 a0007c0023t0015	a0007c0023t0015g0113 a0007c0023t0015g0113	1	292	0.0034	c.160 others(4): Show c.1601C>T	p.Ala others(6): Show p.Ala534Val	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	1867/9261	1601/3657	534/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87114544	C C	G G	missense_variant missense_variant	MODERATE	NA18964.hp2 NA19070.hp2 NA18964.hp2 NA19070.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0122 a0004c0012t0004g0123 a0004c0012t0004g0122 a0004c0012t0004g0123	2	292	0.0068	c.171 others(4): Show c.1711C>G	p.Pro others(6): Show p.Pro571Ala	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	1977/9261	1711/3657	571/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87114712	A A	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0018 a0018	a0018c0015 a0018c0015	a0018c0015t0054 a0018c0015t0054	a0018c0015t0054g0012 a0018c0015t0054g0012	1	292	0.0034	c.187 others(4): Show c.1879A>T	p.Ser others(6): Show p.Ser627Cys	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	2145/9261	1879/3657	627/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87114964	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0036 a0008c0018t0036	a0008c0018t0036g0041 a0008c0018t0036g0041	1	292	0.0034	c.213 others(4): Show c.2131G>A	p.Val others(6): Show p.Val711Ile	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	2397/9261	2131/3657	711/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87115206	G G	T T	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0006 a0011c0022t0006	a0011c0022t0006g0089 a0011c0022t0006g0089	1	292	0.0034	c.237 others(4): Show c.2373G>T	p.Arg others(6): Show p.Arg791Ser	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	12/21	2639/9261	2373/3657	791/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87125058	G G	A A	missense_variant missense_variant	MODERATE	NA18960.hp2 NA18960.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0004 a0012c0019t0004	a0012c0019t0004g0068 a0012c0019t0004g0068	1	292	0.0034	c.248 others(4): Show c.2488G>A	p.Asp others(6): Show p.Asp830Asn	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	13/21	2754/9261	2488/3657	830/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87125090	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp2 NA18522.hp1 NA18906.hp2 HG02572.hp2 NA18522.hp1 NA18906.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0021 a0002c0008t0041 a0002c0008t0021 a0002c0008t0041	a0002c0008t0021g0016 a0002c0008t0021g0018 a0002c0008t0041g0017 a0002c0008t0021g0016 a0002c0008t0021g0018 a0002c0008t0041g0017	3	292	0.0103	c.252 others(4): Show c.2520C>G	p.Ile others(6): Show p.Ile840Met	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	13/21	2786/9261	2520/3657	840/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87125101	C C	T T	missense_variant missense_variant	MODERATE	NA18965.hp1 NA18965.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0030 a0013c0021t0030	a0013c0021t0030g0231 a0013c0021t0030g0231	1	292	0.0034	c.253 others(4): Show c.2531C>T	p.Ser others(6): Show p.Ser844Leu	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	13/21	2797/9261	2531/3657	844/1218	chr4	TogoVar
AFF1_chr4_86930011_87146039	87126161	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0060 a0006c0020t0060	a0006c0020t0060g0171 a0006c0020t0060g0171	1	292	0.0034	c.263 others(4): Show c.2636C>T	p.Ser others(6): Show p.Ser879Leu	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	14/21	2902/9261	2636/3657	879/1218	chr4	TogoVar
AFF2_chrX_148495617_149005663	148662197	C C	T T	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0048 a0002c0008t0006g0048	1	167	0.0060	c.470 others(3): Show c.470C>T	p.Pro others(6): Show p.Pro157Leu	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/21	951/13748	470/3936	157/1311	chrX	TogoVar
AFF2_chrX_148495617_149005663	148955685	G G	A A	missense_variant missense_variant	MODERATE	NA18988.hp1 NA18988.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0009 a0003c0006t0001g0009	1	167	0.0060	c.164 others(4): Show c.1640G>A	p.Gly others(6): Show p.Gly547Asp	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	11/21	2121/13748	1640/3936	547/1311	chrX	TogoVar
AFF3_chr2_99540419_100147590	99560401	T T	C C	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0009 a0005c0011t0009	a0005c0011t0009g0012 a0005c0011t0009g0012	1	98	0.0102	c.315 others(4): Show c.3155A>G	p.Asn others(7): Show p.Asn1052Ser	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	21/25	3489/10070	3155/3681	1052/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	99578363	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0005 a0004c0010t0005	a0004c0010t0005g0074 a0004c0010t0005g0074	1	98	0.0102	c.288 others(4): Show c.2882G>A	p.Arg others(6): Show p.Arg961Lys	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	18/25	3216/10070	2882/3681	961/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	99593835	G G	A A	missense_variant missense_variant	MODERATE	NA18971.hp1 NA18971.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0032 a0006c0012t0032	a0006c0012t0032g0090 a0006c0012t0032g0090	1	98	0.0102	c.182 others(4): Show c.1826C>T	p.Ala others(6): Show p.Ala609Val	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	15/25	2160/10070	1826/3681	609/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	99593880	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00738.hp2 HG01106.hp1 others(3): Show HG00438.hp1 HG00738.hp2 HG01106.hp1 HG02523.hp2 HG04115.hp2 NA20300.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0006 a0003c0006t0001 a0003c0006t0003 a0003c0006t0006	a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 others(3): Show a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0068 a0003c0006t0003g0039 a0003c0006t0003g0069 a0003c0006t0006g0052	6	98	0.0612	c.178 others(4): Show c.1781C>G	p.Thr others(6): Show p.Thr594Ser	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	15/25	2115/10070	1781/3681	594/1226	chr2	TogoVar
AFF3_chr2_99540419_100147590	99594180	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01081.hp1 HG01261.hp2 others(13): Show HG00639.hp1 HG01081.hp1 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG02258.hp1 HG02559.hp1 HG02809.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0013 a0002c0002 a0002c0007 a0002c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(9): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011 a0002c0002t0013 a0002c0002t0018 a0002c0002t0023 a0002c0002t0035 a0002c0007t0001 a0002c0007t0006 a0002c0007t0008 a0002c0013t0019	a0002c0002t0001g0059 a0002c0002t0002g0021 a0002c0002t0002g0028 others(13): Show a0002c0002t0001g0059 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0005g0029 a0002c0002t0011g0040 a0002c0002t0013g0005 a0002c0002t0018g0013 a0002c0002t0023g0054 a0002c0002t0035g0087 a0002c0007t0001g0060 a0002c0007t0006g0081 a0002c0007t0008g0006 a0002c0007t0008g0007 a0002c0013t0019g0014	16	98	0.1633	c.148 others(4): Show c.1481A>G	p.Asn others(6): Show p.Asn494Ser	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	15/25	1815/10070	1481/3681	494/1226	chr2	TogoVar
AFF4_chr5_132870395_132968634	132896564	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0173 a0006c0010t0001g0173	1	390	0.0026	c.206 others(4): Show c.2066G>A	p.Arg others(6): Show p.Arg689Gln	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	11/21	2446/9536	2066/3492	689/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132897044	G G	A A	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0367 a0004c0011t0003g0367	1	390	0.0026	c.158 others(4): Show c.1586C>T	p.Pro others(6): Show p.Pro529Leu	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	11/21	1966/9536	1586/3492	529/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132898268	T T	G G	missense_variant missense_variant	MODERATE	NA18968.hp2 NA18968.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0003 a0008c0012t0003	a0008c0012t0003g0332 a0008c0012t0003g0332	1	390	0.0026	c.135 others(4): Show c.1351A>C	p.Ser others(6): Show p.Ser451Arg	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	10/21	1731/9536	1351/3492	451/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934190	T T	C C	missense_variant missense_variant	MODERATE	HG02738.hp2 HG02738.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0156 a0007c0013t0002g0156	1	390	0.0026	c.875 others(3): Show c.875A>G	p.Lys others(6): Show p.Lys292Arg	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	1255/9536	875/3492	292/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934325	T T	C C	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0006 a0005c0015t0006	a0005c0015t0006g0294 a0005c0015t0006g0294	1	390	0.0026	c.740 others(3): Show c.740A>G	p.Asn others(6): Show p.Asn247Ser	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	1120/9536	740/3492	247/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934511	T T	A A	missense_variant missense_variant	MODERATE	NA19012.hp1 NA20300.hp2 NA19012.hp1 NA20300.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0149 a0003c0008t0002g0157 a0003c0008t0002g0149 a0003c0008t0002g0157	2	390	0.0051	c.554 others(3): Show c.554A>T	p.Gln others(6): Show p.Gln185Leu	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	934/9536	554/3492	185/1163	chr5	TogoVar
AFF4_chr5_132870395_132968634	132934659	T T	G G	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02486.hp2 HG02559.hp2 others(2): Show HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02965.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0016 a0002c0004t0005 a0002c0004t0016	a0002c0004t0005g0218 a0002c0004t0005g0219 a0002c0004t0005g0221 others(2): Show a0002c0004t0005g0218 a0002c0004t0005g0219 a0002c0004t0005g0221 a0002c0004t0016g0220 a0002c0004t0016g0222	5	390	0.0128	c.406 others(3): Show c.406A>C	p.Thr others(6): Show p.Thr136Pro	AFF4	ENSG00000072364.13	transcript	ENST00000265343.10	protein_coding	3/21	786/9536	406/3492	136/1163	chr5	TogoVar
AFG3L2_chr18_12323944_12382227	12329764	T T	C C	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0015 a0002c0004t0001g0015	2	374	0.0053	c.219 others(4): Show c.2195A>G	p.Glu others(6): Show p.Glu732Gly	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	17/17	2340/3160	2195/2394	732/797	chr18	TogoVar
AFG3L2_chr18_12323944_12382227	12358858	G G	A A	missense_variant missense_variant	MODERATE	NA19065.hp2 NA19065.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0106 a0003c0006t0002g0106	1	374	0.0027	c.838 others(3): Show c.838C>T	p.Arg others(6): Show p.Arg280Trp	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	8/17	983/3160	838/2394	280/797	chr18	TogoVar
AFMID_chr17_78182362_78212702	78191027	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp2 HG01069.hp1 others(33): Show HG00423.hp2 HG00438.hp2 HG01069.hp1 HG01071.hp2 HG02055.hp1 HG02071.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG04184.hp1 HG04204.hp2 NA18955.hp2 NA18969.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA19000.hp2 NA19007.hp1 NA19057.hp1 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19088.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0011 a0002c0002t0014 a0002c0002t0017 a0002c0002t0022 a0002c0002t0023 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0039 a0002c0002t0041 a0002c0002t0045 a0006c0008t0001 a0006c0008t0013 a0006c0008t0036	a0002c0002t0001g0125 a0002c0002t0001g0162 a0002c0002t0001g0378 others(33): Show a0002c0002t0001g0125 a0002c0002t0001g0162 a0002c0002t0001g0378 a0002c0002t0002g0034 a0002c0002t0002g0159 a0002c0002t0002g0371 a0002c0002t0003g0382 a0002c0002t0004g0153 a0002c0002t0005g0035 a0002c0002t0005g0374 a0002c0002t0009g0075 a0002c0002t0011g0353 a0002c0002t0011g0372 a0002c0002t0011g0373 a0002c0002t0011g0383 a0002c0002t0011g0385 a0002c0002t0014g0381 a0002c0002t0017g0155 a0002c0002t0017g0156 a0002c0002t0017g0160 a0002c0002t0017g0164 a0002c0002t0022g0154 a0002c0002t0022g0369 a0002c0002t0022g0370 a0002c0002t0023g0113 a0002c0002t0031g0123 a0002c0002t0031g0157 a0002c0002t0032g0126 a0002c0002t0032g0158 a0002c0002t0033g0161 a0002c0002t0039g0386 a0002c0002t0041g0124 a0002c0002t0045g0163 a0006c0008t0001g0355 a0006c0008t0013g0375 a0006c0008t0036g0354	36	444	0.0811	c.121 others(3): Show c.121G>C	p.Ala others(5): Show p.Ala41Pro	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	2/11	130/1686	121/912	41/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78202558	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp1 NA18957.hp2 NA18995.hp2 others(1): Show HG00423.hp1 NA18957.hp2 NA18995.hp2 NA19063.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0006 a0005c0006t0003 a0005c0006t0006	a0005c0006t0003g0137 a0005c0006t0003g0189 a0005c0006t0006g0135 others(1): Show a0005c0006t0003g0137 a0005c0006t0003g0189 a0005c0006t0006g0135 a0005c0006t0006g0187	4	444	0.0090	c.214 others(3): Show c.214G>A	p.Glu others(5): Show p.Glu72Lys	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	3/11	223/1686	214/912	72/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78202729	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp2 HG03540.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0003 a0008c0009t0003	a0008c0009t0003g0246 a0008c0009t0003g0246	1	444	0.0023	c.286 others(3): Show c.286G>A	p.Gly others(5): Show p.Gly96Arg	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	4/11	295/1686	286/912	96/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78204870	C C	T T	missense_variant missense_variant	MODERATE	NA20752.hp1 NA20752.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0298 a0009c0013t0004g0298	1	444	0.0023	c.437 others(3): Show c.437C>T	p.Ala others(6): Show p.Ala146Val	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	6/11	446/1686	437/912	146/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78204884	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00733.hp1 HG01069.hp1 others(14): Show HG00099.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG01993.hp2 HG02602.hp1 HG02735.hp1 HG03490.hp2 HG03704.hp1 HG04184.hp2 HG04204.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0012 a0006c0008 a0003c0003 a0003c0012 a0006c0008	a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 others(8): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0013 a0003c0003t0020 a0003c0003t0027 a0003c0003t0037 a0003c0012t0005 a0006c0008t0001 a0006c0008t0013 a0006c0008t0036	a0003c0003t0001g0247 a0003c0003t0002g0028 a0003c0003t0005g0028 others(14): Show a0003c0003t0001g0247 a0003c0003t0002g0028 a0003c0003t0005g0028 a0003c0003t0005g0214 a0003c0003t0005g0248 a0003c0003t0005g0287 a0003c0003t0013g0263 a0003c0003t0013g0273 a0003c0003t0020g0256 a0003c0003t0020g0257 a0003c0003t0020g0266 a0003c0003t0027g0291 a0003c0003t0037g0274 a0003c0012t0005g0168 a0006c0008t0001g0355 a0006c0008t0013g0375 a0006c0008t0036g0354	17	444	0.0383	c.451 others(3): Show c.451C>T	p.Arg others(6): Show p.Arg151Trp	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	6/11	460/1686	451/912	151/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78205101	A A	G G	missense_variant missense_variant	MODERATE	HG01106.hp2 HG02559.hp2 HG02647.hp1 others(8): Show HG01106.hp2 HG02559.hp2 HG02647.hp1 HG02895.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA20300.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0005 a0004c0004t0002 a0004c0004t0005	a0004c0004t0002g0005 a0004c0004t0002g0148 a0004c0004t0002g0149 others(5): Show a0004c0004t0002g0005 a0004c0004t0002g0148 a0004c0004t0002g0149 a0004c0004t0002g0234 a0004c0004t0002g0235 a0004c0004t0002g0244 a0004c0004t0002g0352 a0004c0004t0005g0139	11	444	0.0248	c.476 others(3): Show c.476A>G	p.Tyr others(6): Show p.Tyr159Cys	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	7/11	485/1686	476/912	159/303	chr17	TogoVar
AFMID_chr17_78182362_78212702	78205671	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0015 a0007c0011t0015	a0007c0011t0015g0376 a0007c0011t0015g0376	1	444	0.0023	c.713 others(3): Show c.713G>A	p.Arg others(6): Show p.Arg238His	AFMID	ENSG00000183077.16	transcript	ENST00000409257.10	protein_coding	9/11	722/1686	713/912	238/303	chr17	TogoVar
AFM_chr4_73476745_73509001	73481815	T T	G G	missense_variant missense_variant	MODERATE	HG02615.hp2 HG03139.hp1 HG02615.hp2 HG03139.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0106 a0008c0006t0001g0118 a0008c0006t0001g0106 a0008c0006t0001g0118	2	366	0.0055	c.40T others(2): Show c.40T>G	p.Phe others(5): Show p.Phe14Val	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	1/15	71/1997	40/1800	14/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73481855	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0148 a0007c0007t0001g0149 a0007c0007t0001g0148 a0007c0007t0001g0149	2	366	0.0055	c.80G others(2): Show c.80G>A	p.Arg others(5): Show p.Arg27Gln	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	1/15	111/1997	80/1800	27/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73485876	G G	T T	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0053 a0006c0009t0001g0053	2	366	0.0055	c.285 others(3): Show c.285G>T	p.Gln others(5): Show p.Gln95His	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	4/15	316/1997	285/1800	95/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73486060	T T	A A	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp1 HG02818.hp1 HG01070.hp1 HG01071.hp1 HG02818.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0168 a0005c0005t0001g0169 a0005c0005t0001g0170 a0005c0005t0001g0168 a0005c0005t0001g0169 a0005c0005t0001g0170	3	366	0.0082	c.469 others(3): Show c.469T>A	p.Ser others(6): Show p.Ser157Thr	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	4/15	500/1997	469/1800	157/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73487082	A A	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02809.hp1 HG03130.hp2 others(1): Show HG02258.hp2 HG02809.hp1 HG03130.hp2 HG03209.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0047 a0004c0004t0001g0159 a0004c0004t0001g0166 a0004c0004t0001g0047 a0004c0004t0001g0159 a0004c0004t0001g0166	4	366	0.0109	c.598 others(3): Show c.598A>T	p.Asn others(6): Show p.Asn200Tyr	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	5/15	629/1997	598/1800	200/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73487083	A A	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02809.hp1 HG03130.hp2 others(1): Show HG02258.hp2 HG02809.hp1 HG03130.hp2 HG03209.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0047 a0004c0004t0001g0159 a0004c0004t0001g0166 a0004c0004t0001g0047 a0004c0004t0001g0159 a0004c0004t0001g0166	4	366	0.0109	c.599 others(3): Show c.599A>T	p.Asn others(6): Show p.Asn200Ile	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	5/15	630/1997	599/1800	200/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73487739	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0108 a0010c0010t0001g0108	1	366	0.0027	c.631 others(3): Show c.631C>A	p.Gln others(6): Show p.Gln211Lys	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	6/15	662/1997	631/1800	211/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73488751	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0201 a0009c0016t0001g0201	1	366	0.0027	c.835 others(3): Show c.835C>T	p.Arg others(6): Show p.Arg279Cys	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	7/15	866/1997	835/1800	279/599	chr4	TogoVar
AFM_chr4_73476745_73509001	73492035	G G	C C	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0014 a0014	a0014c0011 a0014c0011	a0014c0011t0001 a0014c0011t0001	a0014c0011t0001g0007 a0014c0011t0001g0007	1	366	0.0027	c.100 others(4): Show c.1007G>C	p.Ser others(6): Show p.Ser336Thr	AFM	ENSG00000079557.5	transcript	ENST00000226355.5	protein_coding	8/15	1038/1997	1007/1800	336/599	chr4	TogoVar

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