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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GLT6D1_chr9_135618648_135644540	135620106	C C	CCTACTCC others(44): Show CCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG02109.hp2 HG03098.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0229 a0003c0002t0004g0234 a0003c0002t0004g0229 a0003c0002t0004g0234	2	427	0.0047	51	c.39 others(62): Show c.3990_*3991insAGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGG GGGAGAAGGGGGAGTAG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3541		chr9	TogoVar
GMPR_chr6_16233587_16300549	16266420	G G	GTGAAAAA others(44): Show GTGAAAAAGGTGGCACGTCGGACGTGCCACCTTTAAGAGCTGTAACACTC AC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01361.hp1 HG02071.hp2 others(18): Show HG01255.hp1 HG01361.hp1 HG02071.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 NA18948.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0004t0006 a0001c0009t0003	a0001c0001t0001g0011 a0001c0001t0001g0139 a0001c0001t0001g0263 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0139 a0001c0001t0001g0263 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0319 a0001c0001t0003g0314 a0001c0001t0004g0277 a0001c0003t0001g0119 a0001c0003t0001g0134 a0001c0003t0003g0204 a0001c0003t0005g0133 a0001c0003t0005g0135 a0001c0003t0005g0136 a0001c0003t0005g0137 a0001c0004t0006g0213 a0001c0009t0003g0257	21	327	0.0642	51	c.466 others(68): Show c.466-7947_466-7946insCACTGAAAAAGGTGGCACGTCGGACGTG CCACCTTTAAGAGCTGTAACACT	GMPR	ENSG00000137198.10	transcript	ENST00000259727.5	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT TT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0189 a0001c0001t0189	a0001c0001t0189g0353 a0001c0001t0189g0353	1	159	0.0063	51	c.56 others(62): Show c.5654_*5655insAAAAAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp1 NA19055.hp1 HG02148.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0167 a0001c0001t0054 a0001c0001t0167	a0001c0001t0054g0100 a0001c0001t0167g0196 a0001c0001t0054g0100 a0001c0001t0167g0196	2	160	0.0125	51	c.56 others(62): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT TT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0343 a0001c0001t0170g0343	1	159	0.0063	51	c.56 others(62): Show c.5654_*5655insAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117103	T T	TATATATA others(44): Show TATATATATATATATATATATATATATATATATATATATATATATTTATA TA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0134 a0001c0002t0134	a0001c0002t0134g0265 a0001c0002t0134g0265	1	350	0.0029	51	c.56 others(62): Show c.5653_*5654insTATATAAATATATATATATATATATATATATATA TATATATATATATATAT	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5653		chr15	TogoVar
GNB5_chr15_52110100_52196392	52119338	A A	AAGGGAGG others(44): Show AAGGGAGGAGGAGATGGGAGGGAGGAGGAGATGGGAGGGAGGAGGAGATG GG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01891.hp2 HG03130.hp2 others(1): Show HG00735.hp2 HG01891.hp2 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0169 a0001c0003t0021 a0001c0005t0155 a0001c0001t0169 a0001c0003t0021 a0001c0005t0155	a0001c0001t0169g0340 a0001c0003t0021g0351 a0001c0003t0021g0352 others(1): Show a0001c0001t0169g0340 a0001c0003t0021g0351 a0001c0003t0021g0352 a0001c0005t0155g0252	4	245	0.0163	51	c.33 others(62): Show c.3368_*3418dupCCCATCTCCTCCTCCCTCCCATCTCCTCCTCCCT CCCATCTCCTCCTCCCT	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	3418		chr15	TogoVar
GNG2_chr14_51855612_51974795	51942590	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02723.hp1 HG03098.hp1 others(1): Show HG01109.hp1 HG02723.hp1 HG03098.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0064	a0001c0001t0001g0052 a0001c0001t0002g0060 a0001c0001t0015g0302 others(1): Show a0001c0001t0001g0052 a0001c0001t0002g0060 a0001c0001t0015g0302 a0001c0001t0064g0031	4	367	0.0109	51	c.-29 others(68): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
GOLGA8A_chr15_34374068_34442808	34437425	C C	CCGCCGCC others(44): Show CCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGCCGCGCCGCCGTCCTCGC CG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG01074.hp2 HG01109.hp2 others(21): Show HG00423.hp1 HG01074.hp2 HG01109.hp2 HG01257.hp2 HG01258.hp2 HG01516.hp2 HG02004.hp1 HG02486.hp2 HG02647.hp2 HG02698.hp1 HG02895.hp2 HG03041.hp2 NA18942.hp1 NA18952.hp2 NA18955.hp1 NA18967.hp1 NA18969.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18999.hp1 NA19007.hp2 NA19043.hp2 NA19058.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0010 a0012 a0029 a0032	a0001c0001 a0001c0015 a0003c0003 others(6): Show a0001c0001 a0001c0015 a0003c0003 a0004c0004 a0005c0005 a0010c0012 a0012c0010 a0029c0041 a0032c0047	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0015t0005 a0003c0003t0001 a0004c0004t0003 a0004c0004t0025 a0004c0004t0047 a0005c0005t0009 a0010c0012t0014 a0012c0010t0011 a0029c0041t0001 a0032c0047t0007	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0062 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0005g0098 a0001c0001t0015g0097 a0001c0015t0005g0053 a0001c0015t0005g0054 a0003c0003t0001g0112 a0003c0003t0001g0115 a0004c0004t0003g0201 a0004c0004t0003g0207 a0004c0004t0025g0211 a0004c0004t0047g0202 a0005c0005t0009g0011 a0010c0012t0014g0006 a0012c0010t0011g0016 a0012c0010t0011g0018 a0029c0041t0001g0113 a0032c0047t0007g0228	24	99	0.2424	51	c.-12 others(62): Show c.-1290_-1240dupCGGCGAGGACGGCGGCGCGGCGAGGACGGCGGCG CGGCGAGGACGGCGGCG	GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	1/25	47735		chr15	TogoVar
GOLM2_chr15_44283719_44420758	44288493	C C	CGAGAGAG others(44): Show CGAGAGAGAACCCGGAGACAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0107 a0001c0002t0004g0107	1	134	0.0075	51	c.-53 others(60): Show c.-537_-536insGAGAGAGAACCCGGAGACAGACAGAGAGAGAGAGAG AGAGAGAGAGAGAGA	GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding		225		chr15	TogoVar
GPC1_chr2_240430663_240473076	240434196	A A	AGCTGGGG others(44): Show AGCTGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGAAT GC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0233 a0002c0001t0001g0233	1	396	0.0025	51	c.-17 others(62): Show c.-1723_-1722insGCTGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGAATGC	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding		1466		chr2	TogoVar
GPR158_chr10_25170001_25607229	25241306	T T	TTTTCTTT others(44): Show TTTTCTTTTCTTTTCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC TC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0076 a0006c0006t0002g0076	1	123	0.0081	51	c.100 others(72): Show c.1008+20151_1008+20152insTCTTTTCTTTTCTTTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTT	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR158_chr10_25170001_25607229	25338547	A A	AATATATA others(44): Show AATATATACGTATTGTATATTATTATATATAATACATATTATATATATTA TT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp2 HG01069.hp1 HG01106.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0005 a0003c0003t0002 a0002c0002t0005 a0003c0003t0002	a0002c0002t0005g0027 a0003c0003t0002g0007 a0002c0002t0005g0027 a0003c0003t0002g0007	2	158	0.0127	51	c.100 others(72): Show c.1009-57357_1009-57356insCGTATTGTATATTATTATATATAA TACATATTATATATATTATTATATATA	GPR158	ENSG00000151025.11	transcript	ENST00000376351.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR173_chrX_53043789_53085615	53061991	A A	AGGGAAGA others(44): Show AGGGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGA AG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0067 a0001c0001t0012g0067	1	121	0.0083	51	c.-98 others(70): Show c.-98+12507_-98+12508insGGGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAGAAG	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(44): Show AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0229 a0001c0001t0008g0227 a0001c0001t0003g0229 a0001c0001t0008g0227	2	120	0.0167	51	c.375 others(70): Show c.375-23699_375-23698insGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19			chr11	TogoVar
GREM2_chr1_240484573_240617155	240536567	G G	GGAGTTTA others(44): Show GGAGTTTAAGACAAAATGGCAGCGGGGGCTGTAGATCTGGAAGCCATCTG TA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(119): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02132.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp1 NA19012.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052	a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0065 others(119): Show a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0120 a0001c0001t0001g0190 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0346 a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0106 a0001c0001t0002g0139 a0001c0001t0002g0143 a0001c0001t0002g0163 a0001c0001t0002g0175 a0001c0001t0002g0182 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0260 a0001c0001t0002g0281 a0001c0001t0002g0287 a0001c0001t0002g0340 a0001c0001t0002g0345 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0355 a0001c0001t0002g0366 a0001c0001t0002g0373 a0001c0001t0003g0014 a0001c0001t0003g0018 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0043 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0155 a0001c0001t0003g0168 a0001c0001t0003g0194 a0001c0001t0003g0242 a0001c0001t0003g0254 a0001c0001t0003g0271 a0001c0001t0003g0288 a0001c0001t0003g0293 a0001c0001t0004g0103 a0001c0001t0004g0216 a0001c0001t0004g0230 a0001c0001t0004g0318 a0001c0001t0005g0030 a0001c0001t0005g0035 a0001c0001t0005g0091 a0001c0001t0005g0100 a0001c0001t0006g0095 a0001c0001t0006g0179 a0001c0001t0006g0209 a0001c0001t0006g0270 a0001c0001t0007g0237 a0001c0001t0007g0290 a0001c0001t0007g0343 a0001c0001t0007g0344 a0001c0001t0007g0364 a0001c0001t0008g0036 a0001c0001t0008g0256 a0001c0001t0009g0099 a0001c0001t0010g0031 a0001c0001t0010g0362 a0001c0001t0010g0363 a0001c0001t0011g0118 a0001c0001t0011g0123 a0001c0001t0011g0202 a0001c0001t0011g0267 a0001c0001t0011g0269 a0001c0001t0012g0152 a0001c0001t0012g0203 a0001c0001t0012g0224 a0001c0001t0012g0339 a0001c0001t0013g0286 a0001c0001t0014g0085 a0001c0001t0015g0197 a0001c0001t0015g0240 a0001c0001t0016g0004 a0001c0001t0020g0042 a0001c0001t0029g0064 a0001c0001t0030g0314 a0001c0001t0035g0218 a0001c0001t0037g0206 a0001c0001t0039g0329 a0001c0001t0043g0169 a0001c0001t0044g0337 a0001c0001t0045g0180 a0001c0001t0046g0212 a0001c0001t0052g0204	122	228	0.5351	51	c.-1- others(68): Show c.-1-43142_-1-43092dupTACAGATGGCTTCCAGATCTACAGCCCC CGCTGCCATTTTGTCTTAAACTC	GREM2	ENSG00000180875.5	transcript	ENST00000318160.5	protein_coding	1/1			chr1	TogoVar
GRHL2_chr8_101487439_101674726	101509141	C C	CCTTTCTT others(44): Show CCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTCTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02523.hp2 HG02965.hp1 others(10): Show HG02071.hp2 HG02523.hp2 HG02965.hp1 HG03654.hp1 HG03688.hp2 NA18939.hp1 NA18944.hp2 NA18948.hp1 NA18970.hp1 NA18981.hp2 NA18986.hp1 NA19083.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0009 a0003c0004t0002	a0001c0001t0001g0239 a0001c0001t0001g0271 a0001c0001t0002g0243 others(10): Show a0001c0001t0001g0239 a0001c0001t0001g0271 a0001c0001t0002g0243 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0003g0257 a0001c0001t0003g0268 a0001c0001t0003g0272 a0001c0001t0003g0274 a0001c0001t0011g0249 a0001c0002t0009g0267 a0001c0002t0009g0270 a0003c0004t0002g0282	13	283	0.0459	51	c.20+ others(68): Show c.20+16355_20+16356insTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTCTTTTCTCTCTTTCTTTCTT	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRHL2_chr8_101487439_101674726	101509145	C C	CCTTTCTT others(44): Show CCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTCTCTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	266	0.0038	51	c.20+ others(68): Show c.20+16359_20+16360insTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTTCTCTCTTTCTTTCTTTCTT	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRID2_chr4_92298966_93779566	93163399	T T	TGTATATA others(44): Show TGTATATATATATATATACACTATATATATATATATGTATATATATATAT AC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0028 a0001c0004t0007g0028	1	23	0.0435	51	c.736 others(70): Show c.736-44005_736-44004insGTATATATATATATATACACTATATA TATATATATGTATATATATATATAC	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	4/15			chr4	TogoVar
GRIN2B_chr12_13532337_13986602	13607293	T T	TAAAAAAT others(44): Show TAAAAAATATATATTATATATAATATATAAAATATATAATATATATTATA TA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0010 a0001c0004t0002g0010	1	76	0.0132	51	c.201 others(70): Show c.2010+1309_2010+1310insTATATAATATATATTATATATTTTAT ATATTATATATAATATATATTTTTT	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	10/13			chr12	TogoVar
GRK5_chr10_119202571_119464745	119261070	G G	GGCCGGGC others(44): Show GGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGG CT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0055 a0003c0002t0055	a0003c0002t0055g0152 a0003c0002t0055g0152	1	12	0.0833	51	c.52+ others(68): Show c.52+53110_52+53111insGGGGGCTGACCCCCCCCCACCTCCCTCC CGGACGGGGTGGCTGCCGGGCGG	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GSN_chr9_121263162_121337842	121328344	T T	TTGTGTTT others(44): Show TTGTGTTTATTTTTGGTGTGGTGTTTGTTGATGGTGGTTGGGTTTTGGGT TG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	320	0.0031	51	c.176 others(68): Show c.1763-546_1763-545insGTGTTTATTTTTGGTGTGGTGTTTGTTG ATGGTGGTTGGGTTTTGGGTTGT	GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
GSTM2_chr1_109663057_109680286	109670103	A A	AGGGGAGG others(44): Show AGGGGAGGGGAGGTGGGGGGGGGAGGGGGGAAGGGGGGGGTGGCCTCCTT TT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	194	0.0052	51	c.360 others(66): Show c.360+532_360+533insGGGGAGGGGAGGTGGGGGGGGGAGGGGGGA AGGGGGGGGTGGCCTCCTTTT	GSTM2	ENSG00000213366.13	transcript	ENST00000241337.9	protein_coding	5/7			chr1	TogoVar
GTF2H5_chr6_158163350_158204344	158169745	T T	TTATATAT others(44): Show TTATATATAATATATTGTATATTATATATAATATATTGTATATTGTATAT TA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19030.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0007 a0001c0001t0012	a0001c0001t0007g0057 a0001c0001t0012g0050 a0001c0001t0007g0057 a0001c0001t0012g0050	2	247	0.0081	51	c.-34 others(66): Show c.-34-719_-34-718insTAATATATTGTATATTATATATAATATATT GTATATTGTATATTATATATA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP6_chrX_299759_323796	320522	C C	CCAGCCCT others(44): Show CCAGCCCTCACCAGGATTCTTTGCGTTTTCAGGAAATCGGTTGTGATTGG CA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0012 a0004c0006t0001g0012	1	153	0.0065	51	c.-17 others(62): Show c.-1736_-1735insTGCCAATCACAACCGATTTCCTGAAAACGCAAAG AATCCTGGTGAGGGCTG	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		1727		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106710005	T T	TTATATAC others(44): Show TTATATACATGTATATAACATATAGTTGTATATTATATACATGTATATAA CA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02280.hp2 HG02717.hp1 others(1): Show HG01070.hp2 HG02280.hp2 HG02717.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 others(1): Show a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0003t0002g0239	4	161	0.0248	51	c.183 others(70): Show c.1837-1340_1837-1339insTGTTATATACATGTATATAATATACA ACTATATGTTATATACATGTATATA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106710081	A A	ATGTATAT others(44): Show ATGTATATTATATACATGCATATAACATATAGTTATGTATATTATATACA TG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0029 a0001c0001t0044g0029	1	105	0.0095	51	c.183 others(70): Show c.1837-1416_1837-1415insCATGTATATAATATACATAACTATAT GTTATATGCATGTATATAATATACA	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
H1-7_chr12_48323980_48335279	48332835	A A	ACCTCCCG others(44): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCACC TC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	422	0.0024	51	c.27 others(62): Show c.2776_*2777insCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGG CCGACCCCCCCCACCTC	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2557		chr12	TogoVar
H1-7_chr12_48323980_48335279	48332960	G G	GGGGGGGG others(44): Show GGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	351	0.0028	51	c.29 others(62): Show c.2901_*2902insGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGC	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		2682		chr12	TogoVar
H3Y1_chr5_17649868_17660849	17652065	C C	CCCCCTCC others(44): Show CCCCCTCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCTTCC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01099.hp1 HG01243.hp1 others(23): Show HG00408.hp1 HG01099.hp1 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG02083.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02809.hp1 HG02965.hp2 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG06807.hp2 NA18963.hp1 NA18992.hp1 NA19012.hp2 NA19060.hp2 NA19070.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0009 a0001c0002 a0001c0004 a0004c0009	a0001c0002t0002 a0001c0002t0004 a0001c0004t0002 others(1): Show a0001c0002t0002 a0001c0002t0004 a0001c0004t0002 a0004c0009t0002	a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0004t0002g0000 others(1): Show a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0004t0002g0000 a0004c0009t0002g0000	26	355	0.0732	51	c.30 others(62): Show c.3062_*3063insAGGGAAGGGGAGGGGAAGGGAGGGGGAGGGGAGG GGAGGGGAAGGGAGGGG	H3Y1	ENSG00000269466.4	transcript	ENST00000598383.3	protein_coding		2802		chr5	TogoVar
HBZ_chr16_147644_159503	153113	A A	AGACAGTG others(44): Show AGACAGTGGGGAGGGGACAGTGGGGAGAGGACAGTAAGGAGGGGACCATG GG	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA21309.hp1 HG02622.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	2	432	0.0046	51	c.95+ others(64): Show c.95+111_95+112insCAGTGGGGAGGGGACAGTGGGGAGAGGACAGT AAGGAGGGGACCATGGGGA	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HBZ_chr16_147644_159503	154156	G G	GTGCGGGG others(44): Show GTGCGGGGCGGGGCGGGGCGGGGTCGCGGGGAGGGGCGGGGCGGGGCGGG GT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	431	0.0023	51	c.300 others(64): Show c.300+60_300+61insTGCGGGGCGGGGCGGGGCGGGGTCGCGGGGAG GGGCGGGGCGGGGCGGGGT	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2			chr16	TogoVar
HBZ_chr16_147644_159503	154177	G G	GGGTCGCG others(44): Show GGGTCGCGGGGAGGGGCGGGGCGGGGCGGGGTCGCGGGGCGGGGCGGGGG TC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01175.hp1 others(2): Show HG00741.hp2 HG01071.hp2 HG01175.hp1 HG02135.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0013 a0002c0004t0002g0045 a0001c0001t0001g0013 a0002c0004t0002g0045	5	183	0.0273	51	c.300 others(64): Show c.300+82_300+83insGTCGCGGGGAGGGGCGGGGCGGGGCGGGGTCG CGGGGCGGGGCGGGGGTCG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HBZ_chr16_147644_159503	154177	G G	GGTCGCGG others(44): Show GGTCGCGGGGAGGGGCGGGGCGGGGCGGGGGTCGCGGGGCGGGGCGGGGG TC	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	179	0.0056	51	c.300 others(64): Show c.300+82_300+83insTCGCGGGGAGGGGCGGGGCGGGGCGGGGGTCG CGGGGCGGGGCGGGGGTCG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HBZ_chr16_147644_159503	154177	G G	GGTCGCGG others(44): Show GGTCGCGGGGAGGGGCGGGGCGGGGCGGGGTCGCGGGGCGGGGGCGGGGG TC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	179	0.0056	51	c.300 others(64): Show c.300+82_300+83insTCGCGGGGAGGGGCGGGGCGGGGCGGGGTCGC GGGGCGGGGGCGGGGGTCG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HBZ_chr16_147644_159503	154177	G G	GGTCGCGG others(44): Show GGTCGCGGGGAGGGGCGGGGGCGGGGCGGGGTCGCGGGGCGGGGCGGGGG TC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	179	0.0056	51	c.300 others(64): Show c.300+82_300+83insTCGCGGGGAGGGGCGGGGGCGGGGCGGGGTCG CGGGGCGGGGCGGGGGTCG	HBZ	ENSG00000130656.6	transcript	ENST00000252951.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
HCN1_chr5_45249948_45701380	45372072	T T	TATAATAT others(44): Show TATAATATAATTATACATATATTATATATATAATATAATTATACATATAT TA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0002g0058 a0001c0001t0001g0059 a0001c0001t0002g0058	2	148	0.0135	51	c.123 others(72): Show c.1231-18827_1231-18826insTAATATATGTATAATTATATTATA TATATAATATATGTATAATTATATTAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HEATR1_chr1_236544005_236609516	236586750	A A	AATTTTTC others(44): Show AATTTTTCTTAGAGAAATCACTAGAGGTTAACTATAACATAAGACATATC AC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0007 a0006c0005t0007	a0006c0005t0007g0147 a0006c0005t0007g0147	1	386	0.0026	51	c.171 others(68): Show c.1716-349_1716-299dupGTGATATGTCTTATGTTATAGTTAACCT CTAGTGATTTCTCTAAGAAAAAT	HEATR1	ENSG00000119285.11	transcript	ENST00000366582.8	protein_coding	14/44			chr1	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0172 a0002c0003t0002g0172	1	153	0.0065	51	c.591 others(70): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA19012.hp1 NA20905.hp1 NA18906.hp2 NA19012.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0207 a0001c0005t0001g0019 a0001c0005t0001g0053 a0001c0002t0001g0207 a0001c0005t0001g0019 a0001c0005t0001g0053	3	155	0.0194	51	c.591 others(70): Show c.5912-2422_5912-2421insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HELZ2_chr20_63553086_63579239	63571194	C C	CGGTGGGC others(44): Show CGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCT GT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG06807.hp1 HG04184.hp2 HG06807.hp1	a0073 a0075 a0073 a0075	a0073c0069 a0075c0078 a0073c0069 a0075c0078	a0073c0069t0010 a0075c0078t0081 a0073c0069t0010 a0075c0078t0081	a0073c0069t0010g0061 a0075c0078t0081g0176 a0073c0069t0010g0061 a0075c0078t0081g0176	2	373	0.0054	51	c.279 others(66): Show c.279-327_279-326insACAGGCAGAGCCAGAGGCTCCCAGGAGCTT GGAGCAGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571296	T T	TGGTGGGC others(44): Show TGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCT AC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG03492.hp1 HG00280.hp2 HG00735.hp1 HG03492.hp1	a0002 a0069 a0002 a0069	a0002c0002 a0069c0096 a0002c0002 a0069c0096	a0002c0002t0031 a0069c0096t0067 a0002c0002t0031 a0069c0096t0067	a0002c0002t0031g0032 a0069c0096t0067g0267 a0002c0002t0031g0032 a0069c0096t0067g0267	3	385	0.0078	51	c.279 others(66): Show c.279-429_279-428insGTAGGCAGAGCCAGAGGTTCCCAGGAGCTT GGAGTGGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571789	G G	GCCTCTGG others(44): Show GCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCCAGCTCCTGGG AA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18966.hp2 HG03834.hp2 NA18966.hp2	a0001 a0005 a0001 a0005	a0001c0061 a0005c0009 a0001c0061 a0005c0009	a0001c0061t0105 a0005c0009t0002 a0001c0061t0105 a0005c0009t0002	a0001c0061t0105g0226 a0005c0009t0002g0221 a0001c0061t0105g0226 a0005c0009t0002g0221	2	197	0.0102	51	c.278 others(66): Show c.278+318_278+319insTTCCCAGGAGCTGGGAGCGGGGCAGGAGCC CACCACAGGCAGAGCCAGAGG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571806	C C	CGGTGGGC others(44): Show CGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCT GT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18953.hp1 NA19009.hp1 NA18943.hp1 NA18953.hp1 NA19009.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0059 a0002c0005t0065 a0002c0005t0006 a0002c0005t0059 a0002c0005t0065	a0002c0005t0006g0044 a0002c0005t0059g0287 a0002c0005t0065g0266 a0002c0005t0006g0044 a0002c0005t0059g0287 a0002c0005t0065g0266	3	95	0.0316	51	c.278 others(66): Show c.278+301_278+302insACAGGCAGAGCCAGAGGCTCCCAGGAGCTT GGAGTAGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HERC6_chr4_88373852_88448097	88379990	T T	TATATATA others(44): Show TATATATAATATATAAATATATATAATATATAAATATATATATAATATAT AA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	151	0.0066	51	c.199 others(66): Show c.199+877_199+878insATATATAAATATATATAATATATAAATATA TATATAATATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HERC6_chr4_88373852_88448097	88380043	T T	TATATATA others(44): Show TATATATAATATATAAATATATATATAATATATAAATATATATAATATAT AA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0057 a0001c0008t0001g0057	1	158	0.0063	51	c.199 others(66): Show c.199+930_199+931insATATATAAATATATATATAATATATAAATA TATATAATATATAAATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HIBCH_chr2_190198920_190324826	190323916	T T	TCTCCCCC others(44): Show TCTCCCCCAACCCCCCCCCCCCACACCCACCCACCCCCGACCCCCCGACC CC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0342 a0001c0001t0004g0342	1	366	0.0027	51	c.-41 others(62): Show c.-4167_-4166insGGGGTCGGGGGGTCGGGGGTGGGTGGGTGTGGGG GGGGGGGGTTGGGGGAG	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding		4091		chr2	TogoVar
HIGD1A_chr3_42777908_42809490	42798525	T T	TGGGAGGG others(44): Show TGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGT CC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp2 HG02717.hp2 others(5): Show HG01109.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0049 a0001c0001t0003g0056 others(4): Show a0001c0001t0003g0026 a0001c0001t0003g0049 a0001c0001t0003g0056 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0202	8	397	0.0202	51	c.-22 others(68): Show c.-22-4251_-22-4250insGGACGGGGCGGCTGGCCGGGCAGGGGGG CTGACCCCCCCCACCTCCCTCCC	HIGD1A	ENSG00000181061.14	transcript	ENST00000321331.12	protein_coding	1/3			chr3	TogoVar
HIGD1A_chr3_42777908_42809490	42798525	T T	TGGGAGGG others(44): Show TGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGTCCAGCCGCCCCGT CC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0057	1	390	0.0026	51	c.-22 others(68): Show c.-22-4251_-22-4250insGGACGGGGCGGCTGGACGGGCAGGGGGG CTGACCCCCCCCACCTCCCTCCC	HIGD1A	ENSG00000181061.14	transcript	ENST00000321331.12	protein_coding	1/3			chr3	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(44): Show TCTACCACCACCATCACCACCACCACCACCATCACCACCTCTACCACCAT CG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0118 a0001c0001t0017g0118	1	19	0.0526	51	c.520 others(72): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar

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