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
RANBP9_chr6_13616498_13716835	13686100	T T	TCCCCCCC others(8): Show TCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	360	0.0028	15	c.683 others(34): Show c.683+10670_683+10684dupGGGGGGGGGGGGGGG	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	2/13			chr6	TogoVar
RANGAP1_chr22_41239779_41291187	41273766	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18949.hp2 NA19079.hp1 others(1): Show HG00558.hp1 NA18949.hp2 NA19079.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0079 a0001c0001t0003g0008 a0001c0001t0003g0047 a0001c0001t0001g0079 a0001c0001t0003g0008 a0001c0001t0003g0047	4	354	0.0113	15	c.240 others(30): Show c.240+819_240+833dupTTTTTTTTTTTTTTT	RANGAP1	ENSG00000100401.21	transcript	ENST00000356244.8	protein_coding	3/15			chr22	TogoVar
RAP1B_chr12_68605899_68676901	68606097	C C	CGGGGGGG others(8): Show CGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0053 a0001c0001t0006g0053	1	388	0.0026	15	c.-49 others(26): Show c.-4973_-4972insGGGGGGGGGGGGGGG	RAP1B	ENSG00000127314.18	transcript	ENST00000250559.14	protein_coding		4801		chr12	TogoVar
RAP1B_chr12_68605899_68676901	68637599	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0155 a0001c0002t0024g0155	1	388	0.0026	15	c.-26 others(34): Show c.-26-11085_-26-11071dupAAAAAAAAAAAAAAA	RAP1B	ENSG00000127314.18	transcript	ENST00000250559.14	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAP1GAP2_chr17_2791438_3042741	2806376	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp1 HG02647.hp2 others(8): Show HG01081.hp1 HG02451.hp1 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG02896.hp2 HG03098.hp1 HG03209.hp2 HG03471.hp1 NA18971.hp1 NA19007.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0007 others(6): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0024 a0001c0025 a0001c0026 a0002c0003 a0002c0012	a0001c0001t0003 a0001c0004t0015 a0001c0007t0040 others(8): Show a0001c0001t0003 a0001c0004t0015 a0001c0007t0040 a0001c0010t0016 a0001c0024t0067 a0001c0025t0051 a0001c0026t0058 a0002c0003t0004 a0002c0003t0126 a0002c0003t0131 a0002c0012t0003	a0001c0001t0003g0091 a0001c0004t0015g0013 a0001c0007t0040g0015 others(8): Show a0001c0001t0003g0091 a0001c0004t0015g0013 a0001c0007t0040g0015 a0001c0010t0016g0089 a0001c0024t0067g0009 a0001c0025t0051g0052 a0001c0026t0058g0007 a0002c0003t0004g0203 a0002c0003t0126g0171 a0002c0003t0131g0131 a0002c0012t0003g0078	11	218	0.0505	15	c.80+ others(30): Show c.80+5844_80+5858dupATTATTATTATTATT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2815456	A A	ATATTATT others(8): Show ATATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	218	0.0046	15	c.80+ others(32): Show c.80+14935_80+14949dupATTATTATTATTATT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2820891	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01358.hp2 HG01978.hp1 others(6): Show HG01071.hp2 HG01358.hp2 HG01978.hp1 HG01981.hp2 HG02148.hp2 HG02615.hp2 HG04199.hp2 NA19000.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0016 a0002c0003 a0002c0015	a0001c0001t0010 a0001c0002t0002 a0001c0002t0090 others(6): Show a0001c0001t0010 a0001c0002t0002 a0001c0002t0090 a0001c0004t0041 a0001c0004t0132 a0001c0016t0037 a0002c0003t0006 a0002c0015t0032 a0002c0015t0123	a0001c0001t0010g0136 a0001c0002t0002g0117 a0001c0002t0090g0168 others(6): Show a0001c0001t0010g0136 a0001c0002t0002g0117 a0001c0002t0090g0168 a0001c0004t0041g0201 a0001c0004t0132g0034 a0001c0016t0037g0199 a0002c0003t0006g0217 a0002c0015t0032g0167 a0002c0015t0123g0133	9	218	0.0413	15	c.80+ others(32): Show c.80+20341_80+20342insTTTTTTTTTTTTTTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2868516	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0025 a0001c0009t0078 a0001c0001t0025 a0001c0009t0078	a0001c0001t0025g0070 a0001c0009t0078g0085 a0001c0001t0025g0070 a0001c0009t0078g0085	2	218	0.0092	15	c.81- others(32): Show c.81-36763_81-36749dupTTTTTTTTTTTTTTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2889889	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0005 a0001c0004t0015g0005	1	218	0.0046	15	c.81- others(32): Show c.81-15394_81-15393insATATATATTTTTTTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2911260	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp1 HG02109.hp2 others(10): Show HG01243.hp1 HG01358.hp1 HG02109.hp2 HG02451.hp2 HG02615.hp1 HG02647.hp1 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0024	a0001c0001t0003 a0001c0001t0009 a0001c0001t0089 others(9): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0089 a0001c0001t0139 a0001c0002t0106 a0001c0002t0138 a0001c0005t0039 a0001c0009t0101 a0001c0009t0137 a0001c0010t0017 a0001c0013t0103 a0001c0024t0067	a0001c0001t0003g0097 a0001c0001t0003g0159 a0001c0001t0009g0004 others(10): Show a0001c0001t0003g0097 a0001c0001t0003g0159 a0001c0001t0009g0004 a0001c0001t0089g0081 a0001c0001t0139g0045 a0001c0002t0106g0160 a0001c0002t0138g0044 a0001c0005t0039g0001 a0001c0009t0101g0014 a0001c0009t0137g0016 a0001c0010t0017g0003 a0001c0013t0103g0071 a0001c0024t0067g0009	13	218	0.0596	15	c.165 others(32): Show c.165+5904_165+5905insTTTTTTTTTTTTTTT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	3037377	C C	CCCCCCCC others(8): Show CCCCCCCCCCCCCCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp2 HG03831.hp1 HG04228.hp2 HG03017.hp2 HG03831.hp1 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0108 a0002c0003t0129 a0002c0006t0063 a0002c0003t0108 a0002c0003t0129 a0002c0006t0063	a0002c0003t0108g0102 a0002c0003t0129g0054 a0002c0006t0063g0155 a0002c0003t0108g0102 a0002c0003t0129g0054 a0002c0006t0063g0155	3	218	0.0138	15	c.40 others(26): Show c.4016_*4017insCCCCCCCCCCCCCCG	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	25/25	4959		chr17	TogoVar
RAP1GAP_chr1_21591221_21674357	21600884	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	372	0.0027	15	c.165 others(32): Show c.1652+785_1652+799dupTTTTTTTTTTTTTTT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	20/24			chr1	TogoVar
RAP1GDS1_chr4_98256384_98448858	98303627	A A	AATAATAT others(8): Show AATAATATAATATAAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp2 HG02080.hp1 others(7): Show HG01168.hp2 HG01243.hp2 HG02080.hp1 HG02258.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp2 NA18963.hp1 NA18988.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0096 others(7): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0003g0180 a0001c0001t0003g0188 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0010g0179 a0001c0001t0010g0199	10	242	0.0413	15	c.112 others(34): Show c.112+10138_112+10152dupATAATATAATATAAT	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAP1GDS1_chr4_98256384_98448858	98363478	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0199 a0001c0001t0010g0199	1	242	0.0041	15	c.361 others(34): Show c.361+10890_361+10904dupAAAAAAAAAAAAAAA	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAP1GDS1_chr4_98256384_98448858	98443015	A A	ATTTTTTT others(8): Show ATTTTTTTTTCTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0234 a0001c0001t0022g0234	1	242	0.0041	15	c.90 others(24): Show c.907_*908insCTTTTTTTTTTTTTT	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	15/15	908	INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF1_chr9_131571775_131745076	131627213	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02015.hp1 HG02109.hp1 others(9): Show HG00738.hp2 HG02015.hp1 HG02109.hp1 HG02145.hp1 HG03942.hp1 NA18940.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18978.hp2 NA19084.hp2 NA20905.hp1	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0003 a0009c0015 a0011c0017 a0001c0003 a0009c0015 a0011c0017	a0001c0003t0001 a0001c0003t0002 a0001c0003t0024 others(2): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0024 a0009c0015t0002 a0011c0017t0002	a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0181 others(9): Show a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0181 a0001c0003t0001g0193 a0001c0003t0002g0150 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0174 a0001c0003t0002g0180 a0001c0003t0024g0044 a0009c0015t0002g0168 a0011c0017t0002g0149	12	368	0.0326	15	c.120 others(32): Show c.1201+685_1201+699dupTTTTTTTTTTTTTTT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	9/26			chr9	TogoVar
RAPGEF2_chr4_159098079_159365173	159240331	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0032 a0001c0011t0032	a0001c0011t0032g0114 a0001c0011t0032g0114	1	194	0.0052	15	c.358 others(30): Show c.358-865_358-851dupTTTTTTTTTTTTTTT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159337889	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02155.hp2 HG01516.hp1 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0022 a0001c0002t0001 a0001c0002t0022	a0001c0002t0001g0153 a0001c0002t0022g0106 a0001c0002t0001g0153 a0001c0002t0022g0106	2	194	0.0103	15	c.213 others(32): Show c.2136-412_2136-398dupAAAAAAAAAAAAAAA	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159342526	C C	CTTTTATT others(8): Show CTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0162 a0001c0001t0010g0162	1	194	0.0052	15	c.291 others(32): Show c.2919-441_2919-427dupTTTATTTTATTTTAT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	20/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159342543	T T	TTTATTTT others(8): Show TTTATTTTATTTTATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01074.hp2 others(7): Show HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01433.hp1 HG01884.hp2 HG01981.hp2 HG02818.hp1 HG02886.hp2 HG03669.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0001 a0001c0001t0010 a0001c0002t0001	a0001c0001t0010g0155 a0001c0001t0010g0164 a0001c0001t0010g0165 others(7): Show a0001c0001t0010g0155 a0001c0001t0010g0164 a0001c0001t0010g0165 a0001c0002t0001g0007 a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0069 a0001c0002t0001g0126	10	194	0.0516	15	c.291 others(32): Show c.2919-427_2919-426insTTTATATTATTTTAT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	20/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159342548	T T	TTTATTTT others(8): Show TTTATTTTATTTTATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18961.hp2 HG03195.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0048 a0001c0002t0003g0166 a0001c0002t0001g0048 a0001c0002t0003g0166	2	194	0.0103	15	c.291 others(32): Show c.2919-427_2919-426insTTTATTTTATATTAT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	20/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF2_chr4_159098079_159365173	159342553	A A	ATTATTTT others(8): Show ATTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0059 a0001c0001t0009g0059	1	194	0.0052	15	c.291 others(32): Show c.2919-375_2919-361dupTTATTTTATTTTATT	RAPGEF2	ENSG00000109756.10	transcript	ENST00000691494.1	protein_coding	20/29		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAPGEF4_chr2_172730845_173057893	172831266	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01981.hp2 HG02015.hp2 others(7): Show HG00408.hp2 HG01981.hp2 HG02015.hp2 HG02080.hp2 HG02738.hp2 HG04204.hp1 HG06807.hp1 NA18971.hp1 NA18997.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0123 others(7): Show a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0002g0044	10	178	0.0562	15	c.444 others(34): Show c.444+16846_444+16860dupTTTTTTTTTTTTTTT	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF4_chr2_172730845_173057893	172897732	C C	CTATTTTA others(8): Show CTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp1 HG02145.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0175 a0001c0002t0002g0026 a0001c0001t0003g0175 a0001c0002t0002g0026	2	178	0.0112	15	c.445 others(34): Show c.445-20049_445-20035dupTATTTTATTTTATTT	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF4_chr2_172730845_173057893	172925829	G G	GAGAGAGA others(8): Show GAGAGAGAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03654.hp2 HG02735.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0149 a0001c0001t0002g0003 a0001c0001t0001g0149 a0001c0001t0002g0003	2	178	0.0112	15	c.537 others(32): Show c.537+3529_537+3530insAGAGAGAGAAAGAAA	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	6/30			chr2	TogoVar
RAPGEF4_chr2_172730845_173057893	173001993	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01071.hp2 HG01099.hp1 others(16): Show HG00408.hp2 HG01071.hp2 HG01099.hp1 HG01361.hp2 HG01433.hp1 HG01975.hp1 HG01975.hp2 HG02015.hp1 HG02015.hp2 HG03041.hp2 HG03490.hp2 HG03704.hp1 HG03927.hp1 HG04228.hp2 NA18948.hp2 NA18971.hp1 NA19056.hp1 NA19056.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0011t0001	a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0061 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0103 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0006g0156 a0001c0011t0001g0016	19	178	0.1067	15	c.165 others(32): Show c.1658+657_1658+671dupAAAAAAAAAAAAAAA	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF5_chr7_22113236_22362154	22169859	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG01175.hp1 others(20): Show HG00597.hp1 HG00621.hp1 HG01175.hp1 HG02027.hp2 HG02056.hp2 HG02132.hp1 HG02280.hp1 HG02280.hp2 HG02602.hp2 HG02717.hp2 HG02818.hp1 HG03471.hp2 NA18949.hp1 NA18954.hp2 NA18957.hp1 NA18972.hp1 NA18974.hp2 NA18980.hp1 NA18988.hp2 NA19004.hp2 NA19011.hp1 NA19062.hp1 NA19070.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0004c0008	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(19): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0044 a0001c0001t0046 a0001c0001t0052 a0001c0001t0054 a0001c0001t0082 a0001c0001t0108 a0001c0001t0119 a0001c0001t0127 a0001c0001t0160 a0001c0001t0161 a0001c0002t0026 a0001c0004t0047 a0001c0005t0002 a0001c0005t0012 a0001c0005t0043 a0004c0008t0037	a0001c0001t0003g0249 a0001c0001t0005g0272 a0001c0001t0008g0011 others(20): Show a0001c0001t0003g0249 a0001c0001t0005g0272 a0001c0001t0008g0011 a0001c0001t0035g0174 a0001c0001t0036g0101 a0001c0001t0038g0158 a0001c0001t0044g0250 a0001c0001t0044g0273 a0001c0001t0046g0234 a0001c0001t0052g0165 a0001c0001t0054g0327 a0001c0001t0082g0255 a0001c0001t0108g0167 a0001c0001t0119g0237 a0001c0001t0127g0181 a0001c0001t0160g0049 a0001c0001t0161g0162 a0001c0002t0026g0324 a0001c0004t0047g0265 a0001c0005t0002g0285 a0001c0005t0012g0052 a0001c0005t0043g0054 a0004c0008t0037g0002	23	330	0.0697	15	c.120 others(34): Show c.1205-2726_1205-2712dupTTTTTTTTTTTTTTT	RAPGEF5	ENSG00000136237.20	transcript	ENST00000665637.1	protein_coding	11/25			chr7	TogoVar
RAPH1_chr2_203428682_203540301	203506894	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0093 a0001c0003t0093	a0001c0003t0093g0286 a0001c0003t0093g0286	1	290	0.0035	15	c.1-1 others(30): Show c.1-11542_1-11541insAAAAAAAAAAAAAAA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RAPH1_chr2_203428682_203540301	203529005	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0274 a0001c0003t0006g0274	1	290	0.0035	15	c.-1+ others(30): Show c.-1+6105_-1+6106insAAAAAAAAAAATATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RAPH1_chr2_203428682_203540301	203529005	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp2 NA19088.hp2 HG02723.hp1 HG03540.hp2 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0013 a0001c0003 a0006c0013	a0001c0003t0006 a0001c0003t0104 a0006c0013t0108 a0001c0003t0006 a0001c0003t0104 a0006c0013t0108	a0001c0003t0006g0263 a0001c0003t0104g0271 a0006c0013t0108g0290 a0001c0003t0006g0263 a0001c0003t0104g0271 a0006c0013t0108g0290	3	290	0.0103	15	c.-1+ others(30): Show c.-1+6105_-1+6106insAAAAAAAAAAAAATA	RAPH1	ENSG00000173166.18	transcript	ENST00000319170.10	protein_coding	1/13			chr2	TogoVar
RARA_chr17_40304180_40362643	40361340	T T	TGTGAAGG others(8): Show TGTGAAGGCGCTTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0182	1	286	0.0035	15	c.51 others(26): Show c.5114_*5115insGTGAAGGCGCTTGAC	RARA	ENSG00000131759.18	transcript	ENST00000254066.10	protein_coding		3698		chr17	TogoVar
RARB_chr3_25423263_25602932	25500454	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp2 HG01109.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0208 a0001c0001t0005g0268 a0001c0001t0001g0208 a0001c0001t0005g0268	2	290	0.0069	15	c.307 others(30): Show c.307-715_307-701dupTTTTTTTTTTTTTTT	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARG_chr12_53205569_53237209	53222219	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAGAC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	356	0.0028	15	c.184 others(32): Show c.184+5142_184+5143insGTCTCTTTCTTTCTT	RARG	ENSG00000172819.17	transcript	ENST00000425354.7	protein_coding	3/9			chr12	TogoVar
RARG_chr12_53205569_53237209	53223523	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18992.hp1 NA19005.hp2 others(3): Show HG02083.hp2 NA18992.hp1 NA19005.hp2 NA19056.hp2 NA19062.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0071 a0001c0001t0002g0072 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0087	6	356	0.0169	15	c.184 others(32): Show c.184+3838_184+3839insGGGGGGGGGGGGGGG	RARG	ENSG00000172819.17	transcript	ENST00000425354.7	protein_coding	3/9			chr12	TogoVar
RARS1_chr5_168481471_168524301	168502384	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA20129.hp2 HG02895.hp1 HG02897.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0139 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0139	3	394	0.0076	15	c.105 others(32): Show c.1057+280_1057+281insATTTTTTTTTTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG06807.hp1 NA18954.hp1 others(1): Show HG02055.hp1 HG06807.hp1 NA18954.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0210 a0001c0001t0001g0271 a0001c0001t0001g0291 others(1): Show a0001c0001t0001g0210 a0001c0001t0001g0271 a0001c0001t0001g0291 a0001c0007t0001g0045	4	394	0.0102	15	c.187 others(30): Show c.1873+19_1873+33dupTTTTTTTTTTTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87287762	G G	GCCATATA others(8): Show GCCATATATATACACA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	282	0.0036	15	c.539 others(34): Show c.539+18777_539+18778insTATATACACACCATA	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87288036	T T	TACCATAT others(8): Show TACCATATATACACAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	282	0.0036	15	c.539 others(34): Show c.539+19056_539+19057insCACACACCATATATA	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87329281	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0280 a0007c0010t0001g0280	1	282	0.0036	15	c.540 others(32): Show c.540-2053_540-2052insAAAAAAAAAAAAAAA	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA1_chr5_87262883_87396916	87338533	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19066.hp1 NA19076.hp1 others(1): Show NA18968.hp1 NA19066.hp1 NA19076.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0022 a0001c0001t0005g0001 a0001c0001t0005g0009 a0001c0001t0002g0022 a0001c0001t0005g0001 a0001c0001t0005g0009	4	282	0.0142	15	c.101 others(32): Show c.1017+442_1017+443insTATATATATATATAT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0012 a0001c0011t0002g0012	1	282	0.0036	15	c.101 others(32): Show c.1017+444_1017+445insTATATATATATATTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA1_chr5_87262883_87396916	87338535	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19060.hp2 NA18951.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0039 a0001c0001t0002g0008 a0001c0001t0002g0039	2	282	0.0071	15	c.101 others(32): Show c.1017+444_1017+445insTATATATATATTTTT	RASA1	ENSG00000145715.15	transcript	ENST00000274376.11	protein_coding	5/24			chr5	TogoVar
RASA2_chr3_141482027_141620344	141485364	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01167.hp2 HG01169.hp2 others(9): Show HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02280.hp2 HG02572.hp2 HG02683.hp1 HG03453.hp1 HG04184.hp1 HG06807.hp2 NA19043.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0005 a0001c0001t0009g0004 a0001c0001t0009g0006 others(9): Show a0001c0001t0002g0005 a0001c0001t0009g0004 a0001c0001t0009g0006 a0001c0002t0001g0008 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0043 a0001c0002t0001g0087 a0001c0002t0003g0231 a0001c0002t0003g0257	12	280	0.0429	15	c.-17 others(26): Show c.-1720_-1719insAAAAAAAAAAAAAAA	RASA2	ENSG00000155903.14	transcript	ENST00000286364.9	protein_coding		1662		chr3	TogoVar
RASA3_chr13_113972783_114137623	114044076	C C	CCCGCCCC others(8): Show CCCGCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	67	0.0149	15	c.278 others(32): Show c.278-2983_278-2982insCGGGGGGGGGGGCGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044357	C C	CCCCGCCC others(8): Show CCCCGCCCTCGCTGAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	67	0.0149	15	c.278 others(32): Show c.278-3264_278-3263insCTCAGCGAGGGCGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044392	C C	CCTCACTC others(8): Show CCTCACTCGCTGAGCA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02559.hp1 HG01361.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0040 a0001c0001t0001g0065	2	67	0.0299	15	c.278 others(32): Show c.278-3299_278-3298insTGCTCAGCGAGTGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044392	C C	CGCCTCAC others(8): Show CGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	67	0.0149	15	c.278 others(32): Show c.278-3299_278-3298insCTCAGCGAGTGAGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044393	C C	CGCCTCAC others(8): Show CGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	67	0.0149	15	c.278 others(32): Show c.278-3300_278-3299insCTCAGCGAGTGAGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044431	C C	CGCCTCAC others(8): Show CGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01943.hp1 HG01981.hp1 others(9): Show HG00639.hp2 HG01943.hp1 HG01981.hp1 HG02723.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0024 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0002g0032 a0001c0001t0007g0034 a0001c0002t0002g0036	12	67	0.1791	15	c.278 others(32): Show c.278-3338_278-3337insCTCAGCGAGTGAGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099651	C C	CACACAGC others(8): Show CACACAGCCCCCACAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	67	0.0149	15	c.56- others(32): Show c.56-25815_56-25814insCTGTGGGGGCTGTGT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar

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