Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ARHGAP28_chr18_6724716_6920716	6841180	C C	CCTCTCTC others(32): Show CCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCTCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0158 a0002c0005t0002g0158	1	197	0.0051	39	c.543 others(56): Show c.543+3777_543+3778insCTCTCTCTCTCTCCTCTCTCTCTCTCCT CTCTCTCTCTC	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP28_chr18_6724716_6920716	6909301	T T	TTTTCTTT others(32): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG01515.hp1 others(4): Show HG00735.hp2 HG01496.hp1 HG01515.hp1 HG02630.hp1 HG02647.hp1 HG03579.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0022 a0001c0001t0001 a0001c0001t0016 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0072 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0237 a0001c0001t0016g0081 a0001c0001t0022g0067	7	197	0.0355	39	c.209 others(56): Show c.2095+280_2095+281insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTT	ARHGAP28	ENSG00000088756.13	transcript	ENST00000383472.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr18	TogoVar
ARHGAP42_chr11_100682288_100998941	100980559	C C	CTTCTTCT others(32): Show CTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	24	0.0417	39	c.245 others(58): Show c.2456+1512_2456+1513insCTTCTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ARHGAP42	ENSG00000165895.19	transcript	ENST00000298815.13	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARHGAP45_chr19_1062167_1091628	1062917	C C	CCATACTC others(32): Show CCATACTCATGCTGGCTCCACCCACACCATGGCCCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02970.hp2 others(5): Show HG02257.hp2 HG02630.hp2 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03540.hp1 NA19043.hp1	a0003 a0004 a0011 others(2): Show a0003 a0004 a0011 a0016 a0021	a0003c0040 a0004c0005 a0011c0020 others(2): Show a0003c0040 a0004c0005 a0011c0020 a0016c0038 a0021c0037	a0003c0040t0028 a0004c0005t0008 a0011c0020t0007 others(2): Show a0003c0040t0028 a0004c0005t0008 a0011c0020t0007 a0016c0038t0014 a0021c0037t0022	a0003c0040t0028g0125 a0004c0005t0008g0037 a0011c0020t0007g0155 others(4): Show a0003c0040t0028g0125 a0004c0005t0008g0037 a0011c0020t0007g0155 a0011c0020t0007g0156 a0011c0020t0007g0157 a0016c0038t0014g0172 a0021c0037t0022g0173	8	416	0.0192	39	c.-44 others(50): Show c.-4489_-4488insCATACTCATGCTGGCTCCACCCACACCATGGCCC CGCCG	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4249		chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1062970	G G	GCTCCACC others(32): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGTTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0002 a0009c0024t0002	a0009c0024t0002g0148 a0009c0024t0002g0148	1	416	0.0024	39	c.-44 others(50): Show c.-4436_-4435insCTCCACCCACACCATGGCCCCGCCCCATACTCAT GTTGC	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4196		chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1063009	G G	GCTCCACC others(32): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG01934.hp1 others(26): Show HG00438.hp1 HG00609.hp2 HG01934.hp1 HG02040.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG03710.hp1 HG03927.hp1 NA18944.hp2 NA18946.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp2 NA18983.hp1 NA19000.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19066.hp1 NA19085.hp1	a0002 a0022 a0002 a0022	a0002c0001 a0002c0015 a0002c0031 others(3): Show a0002c0001 a0002c0015 a0002c0031 a0002c0049 a0002c0054 a0022c0053	a0002c0001t0004 a0002c0015t0001 a0002c0031t0004 others(3): Show a0002c0001t0004 a0002c0015t0001 a0002c0031t0004 a0002c0049t0027 a0002c0054t0001 a0022c0053t0004	a0002c0001t0004g0006 a0002c0001t0004g0008 a0002c0001t0004g0022 others(14): Show a0002c0001t0004g0006 a0002c0001t0004g0008 a0002c0001t0004g0022 a0002c0001t0004g0035 a0002c0001t0004g0134 a0002c0001t0004g0135 a0002c0001t0004g0136 a0002c0001t0004g0137 a0002c0001t0004g0138 a0002c0001t0004g0144 a0002c0015t0001g0132 a0002c0015t0001g0133 a0002c0031t0004g0008 a0002c0031t0004g0141 a0002c0049t0027g0131 a0002c0054t0001g0130 a0022c0053t0004g0129	29	137	0.2117	39	c.-43 others(50): Show c.-4397_-4396insCTCCACCCACACCATGGCCCCGCCCCATACTCAT GCTGC	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4157		chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1063009	G G	GCTCCACC others(32): Show GCTCCACCCACACCATGGCCCCGCCCCATACTCATGTTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02109.hp1 others(23): Show HG01243.hp1 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0002 a0004 a0005 others(5): Show a0002 a0004 a0005 a0008 a0009 a0017 a0019 a0020	a0002c0019 a0004c0005 a0004c0029 others(12): Show a0002c0019 a0004c0005 a0004c0029 a0004c0048 a0004c0056 a0004c0058 a0005c0006 a0005c0016 a0008c0010 a0009c0023 a0009c0024 a0009c0039 a0017c0059 a0019c0057 a0020c0051	a0002c0019t0009 a0004c0005t0002 a0004c0005t0003 others(14): Show a0002c0019t0009 a0004c0005t0002 a0004c0005t0003 a0004c0005t0008 a0004c0029t0009 a0004c0048t0021 a0004c0056t0002 a0004c0058t0020 a0005c0006t0002 a0005c0016t0002 a0008c0010t0001 a0009c0023t0002 a0009c0024t0002 a0009c0039t0015 a0017c0059t0014 a0019c0057t0019 a0020c0051t0009	a0002c0019t0009g0023 a0004c0005t0002g0150 a0004c0005t0003g0160 others(18): Show a0002c0019t0009g0023 a0004c0005t0002g0150 a0004c0005t0003g0160 a0004c0005t0003g0161 a0004c0005t0008g0159 a0004c0005t0008g0162 a0004c0029t0009g0149 a0004c0029t0009g0151 a0004c0048t0021g0158 a0004c0056t0002g0128 a0004c0058t0020g0152 a0005c0006t0002g0205 a0005c0016t0002g0163 a0008c0010t0001g0014 a0009c0023t0002g0207 a0009c0023t0002g0208 a0009c0024t0002g0147 a0009c0039t0015g0206 a0017c0059t0014g0153 a0019c0057t0019g0154 a0020c0051t0009g0127	26	134	0.1940	39	c.-43 others(50): Show c.-4397_-4396insCTCCACCCACACCATGGCCCCGCCCCATACTCAT GTTGC	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4157		chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1063021	C C	CCATGGCC others(32): Show CCATGGCCCCGCCCCATACTCATGCTGCCTCCACCCACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0143 a0002c0001t0005g0143	1	416	0.0024	39	c.-43 others(50): Show c.-4385_-4384insCATGGCCCCGCCCCATACTCATGCTGCCTCCACC CACAA	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding		4145		chr19	TogoVar
ARHGAP8_chr22_44747575_44867784	44801038	C C	CTGTCCGT others(32): Show CTGTCCGTGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02630.hp2 others(2): Show HG02258.hp2 HG02559.hp1 HG02630.hp2 HG03130.hp1 HG03471.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0020	a0001c0007 a0002c0011 a0007c0022 others(2): Show a0001c0007 a0002c0011 a0007c0022 a0008c0027 a0020c0075	a0001c0007t0001 a0002c0011t0005 a0007c0022t0006 others(2): Show a0001c0007t0001 a0002c0011t0005 a0007c0022t0006 a0008c0027t0001 a0020c0075t0005	a0001c0007t0001g0304 a0002c0011t0005g0086 a0007c0022t0006g0048 others(2): Show a0001c0007t0001g0304 a0002c0011t0005g0086 a0007c0022t0006g0048 a0008c0027t0001g0349 a0020c0075t0005g0065	5	320	0.0156	39	c.80- others(54): Show c.80-1036_80-1035insCCGTGTGTGGGGGGCGCCCCTCCCCGCAGC TGTCCGTGT	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGEF10_chr8_1818926_1963641	1824969	T T	TCCCCTCG others(32): Show TCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0017 a0017	a0017c0072 a0017c0072	a0017c0072t0007 a0017c0072t0007	a0017c0072t0007g0330 a0017c0072t0007g0330	1	361	0.0028	39	c.-48 others(54): Show c.-48+877_-48+878insCCCCGCACCCCACCTGTCCCCCTCGCACCC CACCTGTCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825173	T T	TCCACCTG others(32): Show TCCACCTGTCCTCCCCACACCCCACCTGTCCCCCCGCACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG00642.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0012 a0001c0001t0019 a0001c0002t0012	a0001c0001t0019g0245 a0001c0002t0012g0190 a0001c0001t0019g0245 a0001c0002t0012g0190	2	144	0.0139	39	c.-48 others(56): Show c.-48+1070_-48+1071insTCCCCACACCCCACCTGTCCCCCCGCAC CCCACCTGTCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825186	C C	CCGCACCC others(32): Show CCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0319 a0001c0003t0001g0319	1	356	0.0028	39	c.-48 others(56): Show c.-48+1093_-48+1094insCGCACCCCACCTGTCCCCTCGCACCCCA CCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825187	C C	CGCAATCC others(32): Show CGCAATCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0127 a0002c0127	a0002c0127t0001 a0002c0127t0001	a0002c0127t0001g0013 a0002c0127t0001g0013	1	331	0.0030	39	c.-48 others(56): Show c.-48+1077_-48+1078insATCCACCTGTCCCCCCGCACCCCACCTG TCCCCCCTGCA	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825238	T T	TCCCCCCG others(32): Show TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01516.hp1 HG01891.hp2 others(10): Show HG00738.hp1 HG01516.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp2 HG03486.hp1 HG04204.hp2 HG04228.hp1 NA18957.hp1 NA18962.hp1 NA19002.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0025 a0001 a0002 a0025	a0001c0003 a0001c0009 a0001c0021 others(7): Show a0001c0003 a0001c0009 a0001c0021 a0001c0026 a0001c0050 a0001c0106 a0001c0110 a0001c0114 a0002c0025 a0025c0055	a0001c0003t0001 a0001c0003t0007 a0001c0003t0029 others(10): Show a0001c0003t0001 a0001c0003t0007 a0001c0003t0029 a0001c0009t0005 a0001c0021t0005 a0001c0026t0007 a0001c0050t0005 a0001c0106t0036 a0001c0110t0005 a0001c0114t0013 a0002c0025t0001 a0002c0025t0050 a0025c0055t0007	a0001c0003t0001g0159 a0001c0003t0007g0169 a0001c0003t0029g0168 others(10): Show a0001c0003t0001g0159 a0001c0003t0007g0169 a0001c0003t0029g0168 a0001c0009t0005g0141 a0001c0021t0005g0171 a0001c0026t0007g0142 a0001c0050t0005g0170 a0001c0106t0036g0329 a0001c0110t0005g0172 a0001c0114t0013g0136 a0002c0025t0001g0175 a0002c0025t0050g0174 a0025c0055t0007g0173	13	146	0.0890	39	c.-48 others(56): Show c.-48+1130_-48+1131insCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3482488	T T	TCAGCCTC others(32): Show TCAGCCTCTGCGCCTCAGTTCCGTCTGCAAGTGGCTACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01257.hp1 HG01258.hp1 others(4): Show HG01123.hp1 HG01257.hp1 HG01258.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0002 a0002c0007t0002 a0002c0002t0002 a0002c0007t0002	a0002c0002t0002g0006 a0002c0002t0002g0048 a0002c0002t0002g0049 others(3): Show a0002c0002t0002g0006 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0007t0002g0119	7	332	0.0211	39	c.19 others(50): Show c.1901_*1902insCAGCCTCTGCGCCTCAGTTCCGTCTGCAAGTGGC TACAG	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding		1376		chr1	TogoVar
ARHGEF18_chr19_7343937_7477478	7367791	T T	TATATATA others(32): Show TATATATATACACATATATATATTTTATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0028 a0001c0016t0028	a0001c0016t0028g0141 a0001c0016t0028g0141	1	296	0.0034	39	c.15+ others(54): Show c.15+4896_15+4934dupCACATATATATATTTTATATATATATACAC ATATATATA	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7367832	T T	TATATATA others(32): Show TATATATATACACATATATATATTTTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	289	0.0035	39	c.15+ others(54): Show c.15+4935_15+4936insACACATATATATATTTTATATATATATACA CATATATAT	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7367844	A A	ATATATAT others(32): Show ATATATATATACACATATATATATACACATATATATATTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	278	0.0036	39	c.15+ others(54): Show c.15+4949_15+4950insCACATATATATATACACATATATATATTTT ATATATATA	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41893366	G G	GGACGCCT others(32): Show GGACGCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGGCCTA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	232	0.0043	39	c.644 others(52): Show c.644+66_644+67insGCCTGGGTCTGAGGGAGGAGGGGGCTGGGGGG CCTAGAC	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41893781	T T	TGGGGGCC others(32): Show TGGGGGCCTGGACGCCTGGGTCTGAGGGAGGAGGAGGCTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	230	0.0043	39	c.645 others(54): Show c.645-421_645-420insCCTGGACGCCTGGGTCTGAGGGAGGAGGAG GCTGGGGGG	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF3_chr3_56722420_56806949	56749902	T T	TAAAACTT others(32): Show TAAAACTTTCTGCACGAGCGAGACTCCGTCTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0014 a0001c0002t0010g0014	1	352	0.0028	39	c.612 others(56): Show c.612+1153_612+1154insTTTTTTTTGAGACGGAGTCTCGCTCGTG CAGAAAGTTTT	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	6/9			chr3	TogoVar
ARHGEF3_chr3_56722420_56806949	56794488	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0200 a0002c0001t0001g0200	1	44	0.0227	39	c.96+ others(54): Show c.96+7214_96+7215insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	1/9			chr3	TogoVar
ARID2_chr12_45724706_45913037	45817526	T T	TTATATTT others(32): Show TTATATTTTATATATATATATATTTATATTATATTTTATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01256.hp1 HG01257.hp1 others(1): Show HG00140.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013	4	316	0.0127	39	c.419 others(53): Show c.419-137_419-99dupTTATATATATATATATTTATATTATATTTTA TATATATT	ARID2	ENSG00000189079.18	transcript	ENST00000334344.11	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ARID4B_chr1_235161902_235333179	235236863	T T	TATATATA others(32): Show TATATATATATATATATATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	213	0.0047	39	c.586 others(56): Show c.586-2372_586-2371insTATATATATATACACATATATATATATA TATATATATAT	ARID4B	ENSG00000054267.22	transcript	ENST00000264183.9	protein_coding	8/23			chr1	TogoVar
ARL14EPL_chr5_116027472_116064489	116040979	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	57	0.0175	39	c.-10 others(56): Show c.-10+8488_-10+8489insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	ARL14EPL	ENSG00000268223.7	transcript	ENST00000686077.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARL14EP_chr11_30318104_30343223	30334208	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	153	0.0065	39	c.554 others(56): Show c.554+1240_554+1241insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	ARL14EP	ENSG00000152219.5	transcript	ENST00000282032.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr11	TogoVar
ARL2_chr11_65009160_65027184	65026678	G G	GGAGTAGC others(32): Show GGAGTAGCTGGAATTACAGGCGTGCGCCACCACGCCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	338	0.0030	39	c.48 others(50): Show c.4823_*4824insGAGTAGCTGGAATTACAGGCGTGCGCCACCACGC CCAGC	ARL2	ENSG00000213465.8	transcript	ENST00000246747.9	protein_coding		4495		chr11	TogoVar
ARL5C_chr17_39151894_39171161	39163374	C C	CTTTCTTT others(32): Show CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0268 a0002c0002t0002g0268	1	408	0.0025	39	c.108 others(54): Show c.108-517_108-516insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAAAGAAA	ARL5C	ENSG00000141748.13	transcript	ENST00000269586.12	protein_coding	2/5			chr17	TogoVar
ARL6IP5_chr3_69079937_69111092	69110853	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0242 a0001c0002t0002g0242	1	258	0.0039	39	c.62 others(50): Show c.6217_*6218insAAAAAAAAAAAAAAAAAATATATATATATATATA TATAT	ARL6IP5	ENSG00000144746.7	transcript	ENST00000273258.4	protein_coding		4762		chr3	TogoVar
ARL6_chr3_97759758_97806229	97771611	G G	GTATATTA others(32): Show GTATATTAGCTAAATATATATCCATTCAGTATATTATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp1 HG02486.hp1 others(4): Show HG00642.hp2 HG02451.hp1 HG02486.hp1 HG02922.hp1 HG02970.hp1 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0230 a0001c0001t0001g0003 a0001c0001t0001g0230	7	362	0.0193	39	c.123 others(56): Show c.123+3382_123+3383insATATTAGCTAAATATATATCCATTCAGT ATATTATATAT	ARL6	ENSG00000113966.11	transcript	ENST00000463745.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARMC10_chr7_103070140_103104759	103099593	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG03669.hp2 HG03927.hp1 HG01192.hp2 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0070 a0001c0001t0037 a0001c0001t0070	a0001c0001t0037g0015 a0001c0001t0037g0085 a0001c0001t0070g0076 a0001c0001t0037g0015 a0001c0001t0037g0085 a0001c0001t0070g0076	3	369	0.0081	39	c.10 others(50): Show c.1040_*1041insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTG	ARMC10	ENSG00000170632.14	transcript	ENST00000323716.8	protein_coding	7/7	1041		chr7	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	14	0.0714	39	c.-16 others(50): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp2 HG01884.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0255 a0001c0002t0001g0056 a0001c0001t0001g0255 a0001c0002t0001g0056	2	207	0.0097	39	c.-21 others(60): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAGGAAGA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(32): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp1 HG02258.hp2 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0049 a0001c0002t0001g0058	2	207	0.0097	39	c.-21 others(60): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAAGA AGAGGAAGAGGAAGA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARSB_chr5_78772209_78990310	78937270	A A	ACATATAT others(32): Show ACATATATATGTAAGATATATATATGTAAGATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01884.hp2 HG00621.hp1 HG01884.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0002c0002 a0001c0018 a0002c0002	a0001c0018t0002 a0002c0002t0005 a0001c0018t0002 a0002c0002t0005	a0001c0018t0002g0013 a0002c0002t0005g0318 a0001c0018t0002g0013 a0002c0002t0005g0318	2	358	0.0056	39	c.898 others(58): Show c.898+17986_898+18024dupATATATATATCTTACATATATATATC TTACATATATATG	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	4/7			chr5	TogoVar
ASAP1_chr8_130047104_130448674	130049620	G G	GGGGGCAG others(32): Show GGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA19010.hp1 HG00609.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0001g0063 a0002c0002t0001g0068	2	297	0.0067	39	c.51 others(50): Show c.5110_*5111insATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCT GCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2483		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049877	G G	GGAGAACA others(32): Show GGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	275	0.0036	39	c.48 others(50): Show c.4853_*4854insTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTG TTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2226		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTGCGCGCGCGCGCGCTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	152	0.0066	39	c.270 others(58): Show c.2701+3523_2701+3524insGCGCGCGCGCAGCGCGCGCGCGCGCA CACACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	94	0.0106	39	c.127 others(58): Show c.127-25080_127-25079insAAAAAAAAATATATATATATATATAT ATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01109.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0193 a0001c0004t0005g0194 a0001c0004t0005g0193 a0001c0004t0005g0194	2	95	0.0211	39	c.127 others(58): Show c.127-25080_127-25079insAAAAAAATATATATATATATATATAT ATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0035 a0001c0004t0005g0035	1	112	0.0089	39	c.268 others(58): Show c.2685-2272_2685-2271insATATATATATATATATATATATATAT ATATATATTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	130	0.0077	39	c.110 others(58): Show c.1102-6410_1102-6409insATATATATATATATATATATATATAT ATATTTTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB1_chr2_238421927_238457250	238427862	G G	GCTTTCTT others(32): Show GCTTTCTTTACATGCCTATATTTGTCTTTGAGGGGTTCCT	intron_variant intron_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	414	0.0024	39	c.49+ others(52): Show c.49+772_49+773insAGGGGTTCCTCTTTCTTTACATGCCTATATTT GTCTTTG	ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASCC1_chr10_72091032_72221276	72198368	G G	GAGGGGAG others(32): Show GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	213	0.0047	39	c.311 others(56): Show c.311-1380_311-1379insTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASIC3_chr7_151043531_151057754	151043672	A A	AGGGTCAG others(32): Show AGGGTCAGAGGCAGGACGAGGGTGCACAGTGCGGGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	39	c.-52 others(50): Show c.-5214_-5213insGGGTCAGAGGCAGGACGAGGGTGCACAGTGCGGG GTGGG	ASIC3	ENSG00000213199.8	transcript	ENST00000349064.10	protein_coding		4858		chr7	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	235	0.0043	39	c.-10 others(56): Show c.-10-1656_-10-1655insATATATATATATATATATATACACACAT ACTATATATAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1431138	A A	ATATATAA others(32): Show ATATATAATTATATTTTATAATATATAATCATTTTATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19240.hp2 NA20129.hp1 HG01891.hp1 NA19240.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0012 a0005c0033 a0001c0012 a0005c0033	a0001c0012t0001 a0005c0033t0001 a0001c0012t0001 a0005c0033t0001	a0001c0012t0001g0070 a0001c0012t0001g0167 a0005c0033t0001g0166 a0001c0012t0001g0070 a0001c0012t0001g0167 a0005c0033t0001g0166	3	183	0.0164	39	c.509 others(56): Show c.509+1130_509+1131insATTATAAAATGATTATATATTATAAAAT ATAATTATATA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	6/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1647128	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01993.hp1 NA18955.hp1 others(4): Show HG01975.hp1 HG01993.hp1 NA18955.hp1 NA18963.hp1 NA18963.hp2 NA19011.hp2 NA19085.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0010 a0001c0001 a0001c0003 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0008c0010t0001	a0001c0001t0001g0083 a0001c0001t0002g0140 a0001c0003t0001g0013 others(4): Show a0001c0001t0001g0083 a0001c0001t0002g0140 a0001c0003t0001g0013 a0001c0003t0001g0051 a0001c0003t0001g0063 a0001c0003t0001g0193 a0008c0010t0001g0108	7	174	0.0402	39	c.41 others(50): Show c.4114_*4115insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4048		chrX	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG03579.hp2 NA19240.hp1 HG01993.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	3	290	0.0103	39	c.42 others(50): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASRGL1_chr11_62332448_62398412	62362606	A A	AAATATAT others(32): Show AAATATATAACATATATTATTTATATAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02165.hp1 NA18960.hp1 HG02135.hp1 HG02165.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0008t0001g0016 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0008t0001g0016	3	366	0.0082	39	c.491 others(56): Show c.491+5470_491+5471insACATATATTATTTATATAATATATATTA TATAATATATA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar

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