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
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0217 a0001c0001t0028g0217	1	164	0.0061	26	c.122 others(43): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACRV1_chr11_125666522_125685847	125678978	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00738.hp1 others(28): Show HG00140.hp2 HG00438.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01175.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp2 HG02004.hp1 HG02004.hp2 HG02165.hp2 HG02735.hp2 HG02738.hp2 HG03041.hp2 HG03098.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG04115.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18965.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA19055.hp2 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0003c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0033 a0001c0001t0005g0070 a0003c0003t0001g0022	31	90	0.3444	26	c.53- others(39): Show c.53-682_53-681insTATATATATATATATATATATATATA	ACRV1	ENSG00000134940.14	transcript	ENST00000533904.6	protein_coding	1/3			chr11	TogoVar
ACR_chr22_50733204_50750339	50748541	A A	AGTGTGCC others(19): Show AGTGTGCCCACCTAGACAATCTGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(44): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02280.hp1 HG02602.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG04199.hp2 NA18942.hp2 NA18946.hp2 NA18951.hp1 NA18955.hp1 NA18967.hp1 NA18967.hp2 NA18974.hp1 NA18982.hp2 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA19001.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19067.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0144 a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0001g0139 a0003c0003t0001g0012 a0003c0003t0001g0026 a0003c0003t0001g0134 a0005c0004t0001g0012 a0005c0004t0001g0120	47	428	0.1098	26	c.33 others(37): Show c.3334_*3335insGTGTGCCCACCTAGACAATCTGAGGG	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3203		chr22	TogoVar
ACR_chr22_50733204_50750339	50748662	C C	CGAGGGGT others(19): Show CGAGGGGTGTGCCCACCTAGACAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00423.hp2 others(44): Show HG00099.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02280.hp1 HG02602.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG04199.hp2 HG06807.hp2 NA18942.hp2 NA18946.hp2 NA18951.hp1 NA18955.hp1 NA18967.hp1 NA18967.hp2 NA18974.hp1 NA18982.hp2 NA18989.hp2 NA18993.hp2 NA18994.hp2 NA19001.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19067.hp2 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0004	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0005c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0065 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0144 a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0001g0139 a0003c0003t0001g0012 a0003c0003t0001g0026 a0003c0003t0001g0134 a0005c0004t0001g0012 a0005c0004t0001g0120	47	390	0.1205	26	c.34 others(37): Show c.3455_*3456insGAGGGGTGTGCCCACCTAGACAATCT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3324		chr22	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TTGTGTGT others(19): Show TTGTGTGTGTTTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02630.hp1 HG03453.hp2 HG02486.hp2 HG02630.hp1 HG03453.hp2	a0003 a0007 a0003 a0007	a0003c0011 a0007c0008 a0003c0011 a0007c0008	a0003c0011t0001 a0007c0008t0002 a0003c0011t0001 a0007c0008t0002	a0003c0011t0001g0144 a0007c0008t0002g0145 a0007c0008t0002g0162 a0003c0011t0001g0144 a0007c0008t0002g0145 a0007c0008t0002g0162	3	39	0.0769	26	c.738 others(41): Show c.738+274_738+275insTTGTGTGTGTGTGTGTGTGTGTGTGT	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL1_chr4_184750595_184830968	184769070	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	7	0.1429	26	c.994 others(41): Show c.994-621_994-620insATATATATATATATATATATATATAT	ACSL1	ENSG00000151726.16	transcript	ENST00000281455.7	protein_coding	11/20			chr4	TogoVar
ACSL5_chr10_112369116_112433376	112423217	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	240	0.0042	26	c.159 others(43): Show c.1593+777_1593+778insTATATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0179 a0007c0011t0001g0179	1	148	0.0068	26	c.159 others(43): Show c.1593+779_1593+780insTATATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG03927.hp2 HG02647.hp1 HG03098.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0002g0007 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0002g0007	3	29	0.1034	26	c.159 others(43): Show c.1593+803_1593+804insTATATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTCTT others(19): Show TTTCTCTTTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp1 HG01515.hp1 others(12): Show HG01074.hp2 HG01175.hp1 HG01515.hp1 HG01517.hp1 HG02015.hp2 HG02040.hp1 HG02486.hp1 HG02922.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG06807.hp2 NA19004.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0004c0006 a0001c0001 a0002c0004 a0004c0006	a0001c0001t0001 a0002c0004t0001 a0004c0006t0001 a0001c0001t0001 a0002c0004t0001 a0004c0006t0001	a0001c0001t0001g0011 a0001c0001t0001g0240 a0001c0001t0001g0277 others(11): Show a0001c0001t0001g0011 a0001c0001t0001g0240 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0002c0004t0001g0145 a0004c0006t0001g0107 a0004c0006t0001g0282	15	171	0.0877	26	c.375 others(45): Show c.375-13670_375-13669insTCTTTCTTTCCTTCCTTCCTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS2_chr20_34871612_34932959	34899423	T T	TTTCTTTC others(19): Show TTTCTTTCTCTTTCTTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0012	1	157	0.0064	26	c.375 others(45): Show c.375-13670_375-13669insTTTCTCTTTCTTTCCTTCCTTCCTTC	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACSS3_chr12_81073079_81266210	81213840	T T	TCTCTTCT others(19): Show TCTCTTCTCTTCTCTTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	139	0.0072	26	c.135 others(45): Show c.1355-3057_1355-3056insTCTCTTCTCTTCTCTCTCTCTCCTCT	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213935	T T	TCCTTCCT others(19): Show TCCTTCCTTCCTTCCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	283	0.0035	26	c.135 others(45): Show c.1355-2966_1355-2965insCCTTCCTTCCTTCCTTCCTTTCTTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACSS3_chr12_81073079_81266210	81213938	T T	TTCCTTCC others(19): Show TTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	277	0.0036	26	c.135 others(45): Show c.1355-2963_1355-2962insTCCTTCCTTCCTTCCTTCCTTCCTTC	ACSS3	ENSG00000111058.8	transcript	ENST00000548058.6	protein_coding	9/15			chr12	TogoVar
ACTMAP_chr19_40735861_40755477	40753384	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0087 a0001c0001t0011g0087	1	77	0.0130	26	c.-36 others(37): Show c.-3607_-3582dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ACTMAP	ENSG00000188493.15	transcript	ENST00000378313.7	protein_coding		2908		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68881936	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	256	0.0039	26	c.195 others(43): Show c.1953+521_1953+522insAAAAAAAAAAAAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03688.hp1 HG02886.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0212 a0001c0001t0001g0225	2	104	0.0192	26	c.195 others(43): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0070 a0001c0002t0004g0070	1	172	0.0058	26	c.106 others(45): Show c.106-24791_106-24790insTATATATATATACACACACACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68950462	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG02615.hp1 others(5): Show HG01074.hp2 HG01175.hp2 HG02615.hp1 HG02896.hp1 HG02922.hp2 HG03139.hp1 HG03453.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0015 a0001c0001 a0001c0002 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0006c0015t0001	a0001c0001t0001g0140 a0001c0001t0001g0240 a0001c0001t0001g0260 others(5): Show a0001c0001t0001g0140 a0001c0001t0001g0240 a0001c0001t0001g0260 a0001c0001t0002g0023 a0001c0001t0002g0107 a0001c0002t0003g0256 a0001c0002t0003g0266 a0006c0015t0001g0276	8	179	0.0447	26	c.106 others(45): Show c.106-24791_106-24790insTATACACACACACACACACACACACA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	1/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(19): Show GGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02735.hp1 HG00741.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0257 a0001c0001t0001g0262	2	133	0.0150	26	c.448 others(41): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01258.hp1 others(16): Show HG00099.hp1 HG01106.hp2 HG01258.hp1 HG01978.hp2 HG02145.hp1 HG02572.hp2 HG02818.hp1 HG02976.hp2 NA18964.hp1 NA18969.hp1 NA18973.hp1 NA18989.hp2 NA19003.hp2 NA19007.hp1 NA19060.hp1 NA19062.hp1 NA19070.hp1 NA19089.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0010 a0001c0018	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0002t0002 a0001c0006t0008 a0001c0007t0004 a0001c0010t0002 a0001c0018t0006	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0265 others(16): Show a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0297 a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0004g0076 a0001c0001t0004g0198 a0001c0001t0005g0179 a0001c0001t0012g0110 a0001c0002t0002g0275 a0001c0002t0002g0314 a0001c0006t0008g0343 a0001c0007t0004g0113 a0001c0010t0002g0162 a0001c0018t0006g0124	19	213	0.0892	26	c.876 others(39): Show c.876+83_876+84insTATATATATATATATATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236758289	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0123 a0001c0003t0020g0123	1	188	0.0053	26	c.230 others(43): Show c.2301+669_2301+670insTTTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN4_chr19_38642649_38736589	38736008	A A	AGGTCTCG others(19): Show AGGTCTCGGGGGTCTCGGGGTCTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	102	0.0098	26	c.65 others(37): Show c.6576_*6577insGGTCTCGGGGGTCTCGGGGTCTCGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4420		chr19	TogoVar
ACTR2_chr2_65222831_65276253	65267862	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0263 a0001c0001t0006g0263	1	19	0.0526	26	c.101 others(43): Show c.1015-699_1015-674dupTTTTTTTTTTTTTTTTTTTTTTTTTT	ACTR2	ENSG00000138071.15	transcript	ENST00000260641.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTR6_chr12_100195815_100229424	100216826	T T	TTGGGTTA others(19): Show TTGGGTTAAAAGTGATTTATAGTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp1 HG02976.hp2 others(3): Show HG02486.hp2 HG02717.hp1 HG02976.hp2 HG03209.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0005 a0001c0002t0002g0034 a0001c0002t0002g0035	6	240	0.0250	26	c.751 others(43): Show c.751-1560_751-1535dupGGTTAAAAGTGATTTATAGTTTTCTG	ACTR6	ENSG00000075089.10	transcript	ENST00000188312.7	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157588848	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0187 a0003c0006t0005g0187	1	20	0.0500	26	c.74- others(41): Show c.74-1457_74-1432dupATATATATATATATATATATATATAT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	1/8			chr2	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19070.hp2 HG02027.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0056 a0001c0002t0002g0012 a0001c0002t0002g0056	2	86	0.0233	26	c.63- others(43): Show c.63-15926_63-15925insAAAAAAAAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201602	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	266	0.0038	26	c.404 others(45): Show c.404+62875_404+62876insCTTTCTCTTTCTTTCTTTCTTTCTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54276619	T T	TCACACAC others(19): Show TCACACACACACACACACAAACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0093 a0001c0002t0009g0093	1	43	0.0233	26	c.405 others(45): Show c.405-28051_405-28050insAACACACACACACACACACACACACA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG01257.hp1 others(7): Show HG00733.hp2 HG01175.hp1 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG02145.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0001t0035 a0001c0002t0033 others(6): Show a0001c0001t0003 a0001c0001t0035 a0001c0002t0033 a0001c0004t0002 a0001c0004t0006 a0001c0005t0002 a0001c0005t0006 a0001c0005t0018 a0001c0006t0006	a0001c0001t0003g0048 a0001c0001t0035g0061 a0001c0002t0033g0245 others(7): Show a0001c0001t0003g0048 a0001c0001t0035g0061 a0001c0002t0033g0245 a0001c0004t0002g0246 a0001c0004t0002g0280 a0001c0004t0006g0379 a0001c0005t0002g0313 a0001c0005t0006g0380 a0001c0005t0018g0029 a0001c0006t0006g0399	10	210	0.0476	26	c.108 others(45): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188863	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	190	0.0053	26	c.973 others(41): Show c.973-417_973-416insTTTTTTTTTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19030.hp2 HG02723.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0007 a0001c0004t0002 a0001c0003t0007 a0001c0004t0002	a0001c0003t0007g0144 a0001c0004t0002g0298 a0001c0003t0007g0144 a0001c0004t0002g0298	2	300	0.0067	26	c.973 others(41): Show c.973-422_973-421insATATATATATATATATTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAD1_chr4_122374011_122434784	122413851	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	19	0.0526	26	c.124 others(45): Show c.1249+1043_1249+1068dupATATATATATATATATATATATATAT	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAD2_chr16_84186157_84202166	84197184	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02486.hp2 NA18993.hp1 HG02280.hp2 HG02486.hp2 NA18993.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0003 a0003c0001t0001g0056 a0003c0001t0001g0003 a0003c0001t0001g0056	3	184	0.0163	26	c.21 others(35): Show c.210_*211insTGTGTGTGTGTGTGTGTGTGTGTGTG	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding		19		chr16	TogoVar
ADAL_chr15_43325672_43359569	43334633	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01257.hp1 HG01928.hp2 others(10): Show HG00735.hp2 HG01257.hp1 HG01928.hp2 HG02300.hp1 HG02735.hp2 HG03490.hp1 NA18942.hp2 NA18969.hp1 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18998.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0035	a0001c0001t0002g0039 a0001c0001t0004g0079 a0001c0002t0001g0005 others(2): Show a0001c0001t0002g0039 a0001c0001t0004g0079 a0001c0002t0001g0005 a0001c0002t0003g0005 a0001c0002t0035g0005	13	27	0.4815	26	c.-16 others(43): Show c.-163-306_-163-281dupATATATATATATATATATATATATAT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADAM10_chr15_58583809_58754707	58620660	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0084 a0001c0001t0120g0084	1	280	0.0036	26	c.151 others(43): Show c.1511+810_1511+811insAAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	11/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58672786	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0278 a0001c0001t0014g0278	1	94	0.0106	26	c.484 others(43): Show c.484+6337_484+6338insTTTTTTTTTTTTTTTTTTTTTTTTTT	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	4/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(19): Show ATATATATATATATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02809.hp2 NA19000.hp1 HG01993.hp1 HG02809.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0017 a0001c0001t0045 a0002c0003t0069 a0001c0001t0017 a0001c0001t0045 a0002c0003t0069	a0001c0001t0017g0220 a0001c0001t0045g0089 a0002c0003t0069g0236 a0001c0001t0017g0220 a0001c0001t0045g0089 a0002c0003t0069g0236	3	126	0.0238	26	c.207 others(43): Show c.207-6473_207-6472insGAGATATATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(19): Show ATATATATATATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18747.hp2 NA19012.hp1 HG00544.hp1 NA18747.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0008 a0001c0001t0018	a0001c0001t0008g0215 a0001c0001t0008g0229 a0001c0001t0018g0228 a0001c0001t0008g0215 a0001c0001t0008g0229 a0001c0001t0018g0228	3	126	0.0238	26	c.207 others(43): Show c.207-6473_207-6472insGAGAGATATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58688786	A A	ATATATAT others(19): Show ATATATATATATATATATATCTCTCTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03453.hp2 NA19062.hp2 HG00558.hp2 HG03453.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0047 a0001c0001t0008 a0001c0001t0047	a0001c0001t0008g0191 a0001c0001t0008g0230 a0001c0001t0047g0094 a0001c0001t0008g0191 a0001c0001t0008g0230 a0001c0001t0047g0094	3	126	0.0238	26	c.207 others(43): Show c.207-6473_207-6472insGAGAGAGATATATATATATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126082363	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0199 a0001c0004t0010g0199	1	42	0.0238	26	c.114 others(47): Show c.1146-10710_1146-10709insAAAAAAAAAAAAAAAAAAAAAAAA AA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086668	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0218 a0001c0009t0003g0218	1	245	0.0041	26	c.114 others(45): Show c.1145+7316_1145+7317insATATATATATATATATATATATATAT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02258.hp1 HG01167.hp1 HG01169.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0017 a0002c0001 a0002c0017	a0002c0001t0009 a0002c0017t0002 a0002c0017t0016 a0002c0001t0009 a0002c0017t0002 a0002c0017t0016	a0002c0001t0009g0020 a0002c0017t0002g0184 a0002c0017t0016g0189 a0002c0001t0009g0020 a0002c0017t0002g0184 a0002c0017t0016g0189	3	67	0.0448	26	c.114 others(45): Show c.1145+7304_1145+7305insATATATATATATATATATTTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0054 a0002c0016t0001g0054	1	65	0.0154	26	c.114 others(45): Show c.1145+7304_1145+7305insATATATATATATATATATATTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03195.hp2 HG02896.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0009 a0002c0001t0008 a0001c0002t0009 a0002c0001t0008	a0001c0002t0009g0135 a0002c0001t0008g0103 a0001c0002t0009g0135 a0002c0001t0008g0103	2	66	0.0303	26	c.114 others(45): Show c.1145+7304_1145+7305insATATATATATATATATATATATTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18522.hp2 NA19011.hp1 HG02615.hp1 NA18522.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0015 a0001c0002 a0002c0001 a0002c0015	a0001c0002t0001 a0002c0001t0001 a0002c0015t0009 a0001c0002t0001 a0002c0001t0001 a0002c0015t0009	a0001c0002t0001g0200 a0002c0001t0001g0126 a0002c0015t0009g0008 a0001c0002t0001g0200 a0002c0001t0001g0126 a0002c0015t0009g0008	3	67	0.0448	26	c.114 others(45): Show c.1145+7304_1145+7305insATATATATATATATATATATATATTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0105 a0001c0008t0001g0105	1	133	0.0075	26	c.604 others(43): Show c.604-3848_604-3847insATATATATATATATATATATTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126295910	A A	AACACACA others(19): Show AACACACACACACACACACACATAAAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0013 a0002c0053t0013	a0002c0053t0013g0061 a0002c0053t0013g0061	1	87	0.0115	26	c.187 others(45): Show c.187-16923_187-16922insGTTTATGTGTGTGTGTGTGTGTGTGT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	2/22			chr10	TogoVar
ADAM18_chr8_39579568_39735065	39701117	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	61	0.0164	26	c.190 others(45): Show c.1903-5666_1903-5641dupAAAAAAAAAAAAAAAAAAAAAAAAAA	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM20_chr14_70517358_70540004	70536465	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 NA20905.hp2 HG02647.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	2	37	0.0541	26	c.-18 others(37): Show c.-1846_-1845insTTTTTTTTTTTTTTTTTTTTTTTTTT	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding		1462		chr14	TogoVar

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