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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
GAL3ST4_chr7_100154244_100173617	100160522	C C	T T	stop_gained stop_gained	HIGH	HG02818.hp1 NA20300.hp2 HG02818.hp1 NA20300.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0064 a0006c0009t0001g0081 a0006c0009t0001g0064 a0006c0009t0001g0081	2	400	0.0050	0	c.867 others(3): Show c.867G>A	p.Trp others(4): Show p.Trp289*	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding	4/4	1127/2405	867/1461	289/486		chr7	TogoVar
GALNT2_chr1_230062238_230287122	230265281	C C	T T	stop_gained stop_gained	HIGH	HG01358.hp2 HG01358.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0047 a0003c0013t0047	a0003c0013t0047g0136 a0003c0013t0047g0136	1	322	0.0031	0	c.135 others(4): Show c.1354C>T	p.Gln others(4): Show p.Gln452*	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	14/16	1397/4423	1354/1716	452/571		chr1	TogoVar
GALNT8_chr12_4715400_4777726	4761075	C C	T T	stop_gained stop_gained	HIGH	HG02056.hp2 HG02056.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0078 a0015c0026t0001g0078	1	336	0.0030	0	c.129 others(4): Show c.1291C>T	p.Arg others(4): Show p.Arg431*	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	7/11	1569/2321	1291/1914	431/637		chr12	TogoVar
GBGT1_chr9_133147948_133168914	133154258	G G	T T	stop_gained stop_gained	HIGH	HG01243.hp2 HG01261.hp2 HG01884.hp2 others(5): Show HG01243.hp2 HG01261.hp2 HG01884.hp2 HG02976.hp2 HG03486.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0003 a0018 a0021 others(1): Show a0003 a0018 a0021 a0030	a0003c0008 a0003c0026 a0018c0029 others(2): Show a0003c0008 a0003c0026 a0018c0029 a0021c0032 a0030c0018	a0003c0008t0001 a0003c0008t0002 a0003c0008t0009 others(4): Show a0003c0008t0001 a0003c0008t0002 a0003c0008t0009 a0003c0026t0001 a0018c0029t0001 a0021c0032t0002 a0030c0018t0001	a0003c0008t0001g0063 a0003c0008t0001g0192 a0003c0008t0002g0183 others(5): Show a0003c0008t0001g0063 a0003c0008t0001g0192 a0003c0008t0002g0183 a0003c0008t0009g0196 a0003c0026t0001g0094 a0018c0029t0001g0062 a0021c0032t0002g0180 a0030c0018t0001g0195	8	444	0.0180	0	c.363 others(3): Show c.363C>A	p.Tyr others(4): Show p.Tyr121*	GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding	7/7	644/1954	363/1044	121/347		chr9	TogoVar
GBP1_chr1_89047319_89070208	89059015	G G	A A	stop_gained stop_gained	HIGH	NA18973.hp2 NA18973.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0099 a0013c0016t0001g0099	1	428	0.0023	0	c.457 others(3): Show c.457C>T	p.Arg others(4): Show p.Arg153*	GBP1	ENSG00000117228.11	transcript	ENST00000370473.5	protein_coding	5/11	525/2883	457/1779	153/592		chr1	TogoVar
GCKR_chr2_27491839_27528684	27503548	C C	T T	stop_gained stop_gained	HIGH	HG02523.hp2 HG02523.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0160 a0011c0018t0001g0160	1	322	0.0031	0	c.679 others(3): Show c.679C>T	p.Arg others(4): Show p.Arg227*	GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding	9/19	745/2189	679/1878	227/625		chr2	TogoVar
GCKR_chr2_27491839_27528684	27522505	C C	T T	stop_gained stop_gained	HIGH	HG01358.hp1 HG01358.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0197 a0008c0017t0001g0197	1	322	0.0031	0	c.161 others(4): Show c.1618C>T	p.Arg others(4): Show p.Arg540*	GCKR	ENSG00000084734.9	transcript	ENST00000264717.7	protein_coding	18/19	1684/2189	1618/1878	540/625		chr2	TogoVar
GDI1_chrX_154432154_154448467	154442194	A A	ACCACGGA others(21): Show ACCACGGACCCTGAAAAGGAGGTGGGAGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0027 a0003c0005t0001g0027	1	281	0.0036	28	c.109 others(37): Show c.1099_1100insGAGCCCACGGACCCTGAAAAGGAGGTGG	p.Glu others(5): Show p.Glu367fs	GDI1	ENSG00000203879.12	transcript	ENST00000447750.7	protein_coding	9/11	1201/2240	1100/1344	367/447	INFO_REALIGN_3_PRIME	chrX	TogoVar
GGTLC3_chr22_18511344_18523161	18517489	G G	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02738.hp2 HG02738.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0005 a0004c0006t0003g0005	1	34	0.0294	0	c.177 others(3): Show c.177C>A	p.Tyr others(3): Show p.Tyr59*	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	3/6	310/968	177/678	59/225		chr22	TogoVar
GHDC_chr17_42184087_42199494	42189819	G G	A A	stop_gained stop_gained	HIGH	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0034 a0004c0009t0001g0034	1	372	0.0027	0	c.147 others(4): Show c.1477C>T	p.Arg others(4): Show p.Arg493*	GHDC	ENSG00000167925.17	transcript	ENST00000587427.6	protein_coding	10/10	1676/2408	1477/1593	493/530		chr17	TogoVar
GINS4_chr8_41524261_41550030	41541856	C C	T T	stop_gained stop_gained	HIGH	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0007 a0003c0004t0006g0007	1	424	0.0024	0	c.532 others(3): Show c.532C>T	p.Arg others(4): Show p.Arg178*	GINS4	ENSG00000147536.12	transcript	ENST00000276533.4	protein_coding	7/8	687/3770	532/672	178/223		chr8	TogoVar
GJA10_chr6_89889469_89901120	89895945	C C	T T	stop_gained stop_gained	HIGH	HG01257.hp2 HG02293.hp2 HG01257.hp2 HG02293.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0000 a0002c0003t0002g0000	2	384	0.0052	0	c.147 others(4): Show c.1477C>T	p.Gln others(4): Show p.Gln493*	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding	1/1	1477/1652	1477/1632	493/543		chr6	TogoVar
GJB4_chr1_34754740_34767327	34761492	C C	T T	stop_gained stop_gained	HIGH	HG01109.hp1 HG02647.hp1 HG02886.hp2 others(5): Show HG01109.hp1 HG02647.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 HG06807.hp1	a0005 a0005	a0005c0006 a0005c0009 a0005c0006 a0005c0009	a0005c0006t0001 a0005c0006t0004 a0005c0009t0001 a0005c0006t0001 a0005c0006t0004 a0005c0009t0001	a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0009t0001g0002 a0005c0006t0001g0002 a0005c0006t0004g0002 a0005c0009t0001g0002	8	460	0.0174	0	c.238 others(3): Show c.238C>T	p.Gln others(3): Show p.Gln80*	GJB4	ENSG00000189433.7	transcript	ENST00000339480.3	protein_coding	2/2	609/1444	238/801	80/266		chr1	TogoVar
GK2_chr4_79401361_79413228	79406745	G G	A A	stop_gained stop_gained	HIGH	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0000 a0002c0006t0001g0000	1	400	0.0025	0	c.145 others(4): Show c.1456C>T	p.Arg others(4): Show p.Arg486*	GK2	ENSG00000196475.6	transcript	ENST00000358842.5	protein_coding	1/1	1484/1868	1456/1662	486/553		chr4	TogoVar
GK3_chr4_165272807_165284704	165278433	G G	A A	stop_gained stop_gained	HIGH	NA18978.hp2 NA18978.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0000 a0013c0022t0001g0000	1	382	0.0026	0	c.121 others(4): Show c.1213C>T	p.Arg others(4): Show p.Arg405*	GK3	ENSG00000229894.5	transcript	ENST00000505354.3	protein_coding	1/1	1272/1898	1213/1662	405/553		chr4	TogoVar
GK3_chr4_165272807_165284704	165279103	C C	T T	stop_gained stop_gained	HIGH	NA19063.hp2 NA19063.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0000 a0017c0024t0001g0000	1	382	0.0026	0	c.543 others(3): Show c.543G>A	p.Trp others(4): Show p.Trp181*	GK3	ENSG00000229894.5	transcript	ENST00000505354.3	protein_coding	1/1	602/1898	543/1662	181/553		chr4	TogoVar
GLB1L2_chr11_134326988_134381324	134356357	T T	A A	stop_gained stop_gained	HIGH	NA18985.hp1 NA18990.hp1 NA18985.hp1 NA18990.hp1	a0007 a0007	a0007c0021 a0007c0035 a0007c0021 a0007c0035	a0007c0021t0002 a0007c0035t0001 a0007c0021t0002 a0007c0035t0001	a0007c0021t0002g0268 a0007c0035t0001g0280 a0007c0021t0002g0268 a0007c0035t0001g0280	2	412	0.0049	0	c.615 others(3): Show c.615T>A	p.Tyr others(4): Show p.Tyr205*	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	6/19	689/3251	615/1911	205/636		chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134277444	C C	T T	stop_gained stop_gained	HIGH	HG03927.hp1 HG03927.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0235 a0008c0021t0001g0235	1	420	0.0024	0	c.142 others(3): Show c.142C>T	p.Gln others(3): Show p.Gln48*	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	2/20	504/2946	142/1962	48/653		chr11	TogoVar
GLDC_chr9_6527467_6650729	6610328	C C	A A	stop_gained stop_gained	HIGH	HG00642.hp2 HG00642.hp2	a0009 a0009	a0009c0036 a0009c0036	a0009c0036t0004 a0009c0036t0004	a0009c0036t0004g0227 a0009c0036t0004g0227	1	340	0.0029	0	c.499 others(3): Show c.499G>T	p.Glu others(4): Show p.Glu167*	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	4/25	729/3843	499/3063	167/1020		chr9	TogoVar
GLOD5_chrX_48756747_48778648	48773385	C C	T T	stop_gained stop_gained	HIGH	NA18981.hp1 NA18981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0159 a0003c0003t0001g0159	1	267	0.0037	0	c.433 others(3): Show c.433C>T	p.Arg others(4): Show p.Arg145*	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	4/4	477/740	433/483	145/160		chrX	TogoVar
GNAZ_chr22_23065519_23130032	23123154	C C	G G	stop_gained stop_gained	HIGH	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0185 a0002c0013t0001g0185	1	332	0.0030	0	c.791 others(3): Show c.791C>G	p.Ser others(4): Show p.Ser264*	GNAZ	ENSG00000128266.9	transcript	ENST00000615612.2	protein_coding	3/3	1292/3170	791/1068	264/355		chr22	TogoVar
GNB5_chr15_52110100_52196392	52133444	C C	T T	stop_gained stop_gained	HIGH	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0233 a0003c0008t0005g0233	1	364	0.0027	0	c.797 others(3): Show c.797G>A	p.Trp others(4): Show p.Trp266*	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	9/13	886/8934	797/1188	266/395		chr15	TogoVar
GNG14_chr19_12682998_12693422	12688096	G G	A A	stop_gained stop_gained	HIGH	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0000 a0005c0006t0004g0000	1	368	0.0027	0	c.48G others(2): Show c.48G>A	p.Trp others(3): Show p.Trp16*	GNG14	ENSG00000283980.1	transcript	ENST00000640151.1	protein_coding	1/1	99/425	48/324	16/107		chr19	TogoVar
GNG14_chr19_12682998_12693422	12688133	C C	T T	stop_gained stop_gained	HIGH	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0000 a0005c0009t0002g0000	1	368	0.0027	0	c.85C others(2): Show c.85C>T	p.Gln others(3): Show p.Gln29*	GNG14	ENSG00000283980.1	transcript	ENST00000640151.1	protein_coding	1/1	136/425	85/324	29/107		chr19	TogoVar
GNLY_chr2_85689358_85703852	85694429	G G	A A	stop_gained stop_gained	HIGH	HG00735.hp2 HG01109.hp2 HG02572.hp1 others(5): Show HG00735.hp2 HG01109.hp2 HG02572.hp1 HG02818.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0007 a0003c0003t0003g0020 a0003c0003t0003g0007 a0003c0003t0003g0020	8	396	0.0202	0	c.11G others(2): Show c.11G>A	p.Trp others(2): Show p.Trp4*	GNLY	ENSG00000115523.17	transcript	ENST00000263863.9	protein_coding	1/5	72/777	11/438	4/145		chr2	TogoVar
GNPDA1_chr5_141995671_142018027	142002082	T T	A A	stop_gained stop_gained	HIGH	NA18997.hp2 NA18997.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0068 a0003c0005t0001g0068	1	422	0.0024	0	c.817 others(3): Show c.817A>T	p.Lys others(4): Show p.Lys273*	GNPDA1	ENSG00000113552.16	transcript	ENST00000311337.11	protein_coding	7/7	856/2267	817/870	273/289		chr5	TogoVar
GNRHR_chr4_67732118_67759388	67753821	C C	CTAGTTAG others(51): Show CTAGTTAGATCAGCCTAGGATCTGAGCATGATCTCGTTGTGTATCCATGC TACCTGTGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0006	a0004c0006t0006g0147 a0004c0006t0006g0147	1	386	0.0026	58	c.514 others(65): Show c.514_515insACACAGGTAGCATGGATACACAACGAGATCATGCTCAG ATCCTAGGCTGATCTAACTA	p.Gly others(5): Show p.Gly172fs	GNRHR	ENSG00000109163.7	transcript	ENST00000226413.5	protein_coding	1/3	567/4402	514/987	172/328		chr4	TogoVar
GOLGA6A_chr15_74064857_74087550	74074705	G G	A A	stop_gained stop_gained	HIGH	HG02647.hp2 HG02647.hp2	a0018 a0018	a0018c0027 a0018c0027	a0018c0027t0001 a0018c0027t0001	a0018c0027t0001g0115 a0018c0027t0001g0115	1	136	0.0074	0	c.114 others(4): Show c.1144C>T	p.Arg others(4): Show p.Arg382*	GOLGA6A	ENSG00000159289.6	transcript	ENST00000290438.3	protein_coding	11/18	1185/3176	1144/2082	382/693		chr15	TogoVar
GOLGA6A_chr15_74064857_74087550	74082504	C C	T T	stop_gained stop_gained	HIGH	HG01884.hp2 HG02109.hp2 HG01884.hp2 HG02109.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0002 a0011c0010t0001g0002	2	136	0.0147	0	c.6G> others(1): Show c.6G>A	p.Trp others(2): Show p.Trp2*	GOLGA6A	ENSG00000159289.6	transcript	ENST00000290438.3	protein_coding	1/18	47/3176	6/2082	2/693		chr15	TogoVar
GOLGA6B_chr15_72649697_72674599	72662674	C C	T T	stop_gained stop_gained	HIGH	HG02895.hp1 HG02895.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0006 a0018c0018t0006	a0018c0018t0006g0087 a0018c0018t0006g0087	1	332	0.0030	0	c.127 others(4): Show c.1270C>T	p.Gln others(4): Show p.Gln424*	GOLGA6B	ENSG00000215186.7	transcript	ENST00000421285.4	protein_coding	11/18	1311/5380	1270/2082	424/693		chr15	TogoVar
GOLGA6D_chr15_75277835_75300530	75289625	C C	T T	stop_gained stop_gained	HIGH	HG02056.hp2 NA18961.hp2 NA19090.hp1 HG02056.hp2 NA18961.hp2 NA19090.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0004 a0009c0009t0001g0082 a0009c0009t0001g0004 a0009c0009t0001g0082	3	232	0.0129	0	c.685 others(3): Show c.685C>T	p.Arg others(4): Show p.Arg229*	GOLGA6D	ENSG00000140478.17	transcript	ENST00000434739.4	protein_coding	9/18	726/3178	685/2082	229/693		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344824	G G	A A	stop_gained stop_gained	HIGH	HG02572.hp2 HG02723.hp2 HG02970.hp2 others(3): Show HG02572.hp2 HG02723.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03225.hp2	a0011 a0026 a0011 a0026	a0011c0011 a0026c0037 a0011c0011 a0026c0037	a0011c0011t0010 a0026c0037t0035 a0011c0011t0010 a0026c0037t0035	a0011c0011t0010g0016 a0011c0011t0010g0119 a0011c0011t0010g0121 others(1): Show a0011c0011t0010g0016 a0011c0011t0010g0119 a0011c0011t0010g0121 a0026c0037t0035g0120	6	300	0.0200	0	c.103 others(4): Show c.1036C>T	p.Gln others(4): Show p.Gln346*	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1136/4452	1036/1569	346/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345107	A A	ACGTAGCC others(12): Show ACGTAGCCTCTCCTCCTGTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03579.hp2 HG03579.hp2	a0029 a0029	a0029c0050 a0029c0050	a0029c0050t0026 a0029c0050t0026	a0029c0050t0026g0144 a0029c0050t0026g0144	1	236	0.0042	19	c.752 others(26): Show c.752_753insAACAGGAGGAGAGGCTACG	p.Cys others(5): Show p.Cys251fs	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	852/4452	752/1569	251/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345107	A A	ATGTAGCC others(33): Show ATGTAGCCTCTCCTCCTGTACACGTAGCCTCTCCTCCTGTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00642.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01952.hp2 HG02080.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18949.hp2 NA18952.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp2 NA19090.hp1 NA20805.hp2	a0002 a0038 a0002 a0038	a0002c0002 a0002c0049 a0038c0044 a0002c0002 a0002c0049 a0038c0044	a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 others(3): Show a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 a0002c0002t0025 a0002c0049t0002 a0038c0044t0019	a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 others(17): Show a0002c0002t0002g0001 a0002c0002t0002g0017 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0011g0036 a0002c0002t0011g0039 a0002c0002t0017g0044 a0002c0002t0025g0139 a0002c0049t0002g0133 a0038c0044t0019g0127	60	295	0.2034	40	c.752 others(47): Show c.752_753insAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTA CA	p.Cys others(5): Show p.Cys251fs	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	852/4452	752/1569	251/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345107	A A	ATGTAGCC others(12): Show ATGTAGCCTCTCCTCCTGTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19043.hp1 NA19043.hp1	a0036 a0036	a0036c0040 a0036c0040	a0036c0040t0001 a0036c0040t0001	a0036c0040t0001g0088 a0036c0040t0001g0088	1	236	0.0042	19	c.752 others(26): Show c.752_753insAACAGGAGGAGAGGCTACA	p.Cys others(5): Show p.Cys251fs	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	852/4452	752/1569	251/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345107	A A	ATGTAGCC others(54): Show ATGTAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTACACGTAGCC TCTCCTCCTGTT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00733.hp1 HG01433.hp2 HG03225.hp1 HG00733.hp1 HG01433.hp2 HG03225.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0002 a0013c0012t0002	a0013c0012t0002g0018 a0013c0012t0002g0018	3	238	0.0126	61	c.752 others(68): Show c.752_753insAACAGGAGGAGAGGCTACGTGTACAGGAGGAGAGGCTA CATGAACAGGAGGAGAGGCTACA	p.Cys others(5): Show p.Cys251fs	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	852/4452	752/1569	251/522		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129472	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03831.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18974.hp1 NA18977.hp2 NA19043.hp1 NA19043.hp2 NA19077.hp2 NA20905.hp1	a0003 a0004 a0008 others(18): Show a0003 a0004 a0008 a0009 a0010 a0014 a0016 a0019 a0021 a0024 a0025 a0031 a0032 a0033 a0034 a0035 a0037 a0039 a0041 a0042 a0048	a0003c0003 a0003c0047 a0004c0004 others(21): Show a0003c0003 a0003c0047 a0004c0004 a0008c0009 a0009c0008 a0010c0017 a0010c0045 a0010c0050 a0014c0032 a0016c0012 a0019c0013 a0021c0025 a0024c0048 a0025c0044 a0031c0022 a0032c0053 a0033c0037 a0034c0042 a0035c0039 a0037c0057 a0039c0051 a0041c0055 a0042c0028 a0048c0027	a0003c0003t0002 a0003c0003t0018 a0003c0047t0002 others(24): Show a0003c0003t0002 a0003c0003t0018 a0003c0047t0002 a0004c0004t0003 a0008c0009t0001 a0009c0008t0003 a0009c0008t0006 a0010c0017t0006 a0010c0017t0009 a0010c0045t0006 a0010c0050t0009 a0014c0032t0022 a0016c0012t0010 a0019c0013t0003 a0021c0025t0003 a0024c0048t0002 a0025c0044t0003 a0031c0022t0003 a0032c0053t0019 a0033c0037t0006 a0034c0042t0003 a0035c0039t0003 a0037c0057t0009 a0039c0051t0010 a0041c0055t0003 a0042c0028t0003 a0048c0027t0002	a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 others(39): Show a0003c0003t0002g0005 a0003c0003t0002g0014 a0003c0003t0002g0015 a0003c0003t0002g0016 a0003c0003t0002g0033 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0041 a0003c0003t0002g0042 a0003c0003t0018g0036 a0003c0047t0002g0040 a0004c0004t0003g0010 a0004c0004t0003g0050 a0004c0004t0003g0071 a0004c0004t0003g0084 a0008c0009t0001g0013 a0008c0009t0001g0123 a0009c0008t0003g0100 a0009c0008t0003g0102 a0009c0008t0006g0099 a0009c0008t0006g0101 a0010c0017t0006g0107 a0010c0017t0009g0103 a0010c0045t0006g0106 a0010c0050t0009g0108 a0014c0032t0022g0054 a0016c0012t0010g0024 a0019c0013t0003g0093 a0019c0013t0003g0097 a0021c0025t0003g0047 a0024c0048t0002g0034 a0025c0044t0003g0087 a0031c0022t0003g0044 a0032c0053t0019g0043 a0033c0037t0006g0075 a0034c0042t0003g0085 a0035c0039t0003g0052 a0037c0057t0009g0121 a0039c0051t0010g0114 a0041c0055t0003g0115 a0042c0028t0003g0049 a0048c0027t0002g0031	55	204	0.2696	0	c.198 others(4): Show c.1981C>T	p.Gln others(4): Show p.Gln661*	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	2072/3822	1981/2007	661/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129772	G G	A A	stop_gained stop_gained	HIGH	HG00741.hp1 HG01192.hp2 HG02273.hp2 others(4): Show HG00741.hp1 HG01192.hp2 HG02273.hp2 HG02572.hp2 HG03098.hp1 HG03453.hp1 HG04199.hp1	a0012 a0016 a0036 others(1): Show a0012 a0016 a0036 a0039	a0012c0020 a0012c0054 a0016c0012 others(2): Show a0012c0020 a0012c0054 a0016c0012 a0036c0046 a0039c0051	a0012c0020t0004 a0012c0020t0023 a0012c0054t0024 others(3): Show a0012c0020t0004 a0012c0020t0023 a0012c0054t0024 a0016c0012t0010 a0036c0046t0007 a0039c0051t0010	a0012c0020t0004g0119 a0012c0020t0023g0117 a0012c0054t0024g0120 others(3): Show a0012c0020t0004g0119 a0012c0020t0023g0117 a0012c0054t0024g0120 a0016c0012t0010g0024 a0036c0046t0007g0104 a0039c0051t0010g0114	7	204	0.0343	0	c.168 others(4): Show c.1681C>T	p.Gln others(4): Show p.Gln561*	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1772/3822	1681/2007	561/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130375	C C	CCCACATC others(34): Show CCCACATCATCTCCTCCTGCCTCCGCATCTTCTCCTCCTTCT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18612.hp2 NA18612.hp2	a0044 a0044	a0044c0029 a0044c0029	a0044c0029t0016 a0044c0029t0016	a0044c0029t0016g0029 a0044c0029t0016g0029	1	204	0.0049	41	c.103 others(50): Show c.1037_1077dupAGAAGGAGGAGAAGATGCGGAGGCAGGAGGAGATGA TGTGG	p.Glu others(5): Show p.Glu360fs	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1168/3822	1077/2007	359/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23133655	G G	A A	stop_gained stop_gained	HIGH	HG01346.hp2 HG01346.hp2	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0001 a0014c0038t0001	a0014c0038t0001g0076 a0014c0038t0001g0076	1	204	0.0049	0	c.346 others(3): Show c.346C>T	p.Gln others(4): Show p.Gln116*	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	3/9	437/3822	346/2007	116/668		chr15	TogoVar
GOLGA6L24_chr15_28342851_28363084	28350952	G G	A A	stop_gained stop_gained	HIGH	HG03195.hp2 HG03195.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0080 a0011c0022t0001g0080	1	200	0.0050	0	c.179 others(4): Show c.1798C>T	p.Arg others(4): Show p.Arg600*	GOLGA6L24	ENSG00000237850.8	transcript	ENST00000568624.2	protein_coding	8/9	1859/4304	1798/2499	600/832		chr15	TogoVar
GOLGA6L24_chr15_28342851_28363084	28357882	C C	A A	stop_gained stop_gained	HIGH	NA19077.hp2 NA19077.hp2	a0017 a0017	a0017c0012 a0017c0012	a0017c0012t0001 a0017c0012t0001	a0017c0012t0001g0026 a0017c0012t0001g0026	1	200	0.0050	0	c.142 others(3): Show c.142G>T	p.Glu others(3): Show p.Glu48*	GOLGA6L24	ENSG00000237850.8	transcript	ENST00000568624.2	protein_coding	1/9	203/4304	142/2499	48/832		chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23326937	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	NA19067.hp1 NA19067.hp1	a0040 a0040	a0040c0055 a0040c0055	a0040c0055t0005 a0040c0055t0005	a0040c0055t0005g0109 a0040c0055t0005g0109	1	182	0.0055	0	c.192 others(4): Show c.1924C>T	p.Gln others(4): Show p.Gln642*	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	8/9	1985/3731	1924/1950	642/649		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23441460	C C	A A	stop_gained stop_gained	HIGH	NA19062.hp2 NA19062.hp2	a0032 a0032	a0032c0058 a0032c0058	a0032c0058t0001 a0032c0058t0001	a0032c0058t0001g0078 a0032c0058t0001g0078	1	394	0.0025	0	c.101 others(4): Show c.1015G>T	p.Glu others(4): Show p.Glu339*	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	1077/3499	1015/2730	339/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23444055	G G	A A	stop_gained stop_gained	HIGH	HG02109.hp2 HG02572.hp2 HG03486.hp2 others(1): Show HG02109.hp2 HG02572.hp2 HG03486.hp2 NA19030.hp1	a0009 a0009	a0009c0018 a0009c0025 a0009c0026 a0009c0018 a0009c0025 a0009c0026	a0009c0018t0010 a0009c0025t0010 a0009c0026t0010 a0009c0018t0010 a0009c0025t0010 a0009c0026t0010	a0009c0018t0010g0041 a0009c0025t0010g0119 a0009c0026t0010g0118 a0009c0018t0010g0041 a0009c0025t0010g0119 a0009c0026t0010g0118	4	394	0.0102	0	c.313 others(3): Show c.313C>T	p.Arg others(4): Show p.Arg105*	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	5/8	375/3499	313/2730	105/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23444488	G G	A A	stop_gained stop_gained	HIGH	NA19007.hp2 NA19007.hp2	a0031 a0031	a0031c0062 a0031c0062	a0031c0062t0001 a0031c0062t0001	a0031c0062t0001g0102 a0031c0062t0001g0102	1	394	0.0025	0	c.226 others(3): Show c.226C>T	p.Arg others(3): Show p.Arg76*	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	3/8	288/3499	226/2730	76/909		chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84235839	G G	A A	stop_gained stop_gained	HIGH	HG02280.hp1 HG02280.hp1	a0025 a0025	a0025c0030 a0025c0030	a0025c0030t0040 a0025c0030t0040	a0025c0030t0040g0011 a0025c0030t0040g0011	1	250	0.0040	0	c.5G> others(1): Show c.5G>A	p.Trp others(2): Show p.Trp2*	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	1/9	67/4553	5/1725	2/574		chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240352	T T	G G	stop_gained stop_gained	HIGH	HG03927.hp1 HG03927.hp1	a0035 a0035	a0035c0059 a0035c0059	a0035c0059t0001 a0035c0059t0001	a0035c0059t0001g0069 a0035c0059t0001g0069	1	250	0.0040	0	c.998 others(3): Show c.998T>G	p.Leu others(4): Show p.Leu333*	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	1060/4553	998/1725	333/574		chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240369	C C	T T	stop_gained stop_gained	HIGH	HG03927.hp1 HG03927.hp1	a0035 a0035	a0035c0059 a0035c0059	a0035c0059t0001 a0035c0059t0001	a0035c0059t0001g0069 a0035c0059t0001g0069	1	250	0.0040	0	c.101 others(4): Show c.1015C>T	p.Gln others(4): Show p.Gln339*	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	1077/4553	1015/1725	339/574		chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240430	T T	G G	stop_gained stop_gained	HIGH	HG03927.hp1 HG03927.hp1	a0035 a0035	a0035c0059 a0035c0059	a0035c0059t0001 a0035c0059t0001	a0035c0059t0001g0069 a0035c0059t0001g0069	1	250	0.0040	0	c.107 others(4): Show c.1076T>G	p.Leu others(4): Show p.Leu359*	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	1138/4553	1076/1725	359/574		chr15	TogoVar

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