Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADGRA1_chr10_133082924_133136675	133112954	GGTTATTT others(47): Show GGTTATTTGGGGTCTGCGGGCCGCGTCAGTTATTTGGGGTCTATAAGCTG TGTCA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03239.hp2 HG01981.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0062 a0001c0001t0002 a0001c0002t0062	a0001c0001t0002g0214 a0001c0002t0062g0293 a0001c0001t0002g0214 a0001c0002t0062g0293	2	368	0.0054	-54	c.401 others(73): Show c.401+10189_401+10242delCGTCAGTTATTTGGGGTCTATAAGCT GTGTCAGTTATTTGGGGTCTGCGGGCCG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB3_chr6_68630282_69394506	68661353	GTGTGTGT others(47): Show GTGTGTGTGTGTATATATATGTGTATACATATATATATGTGTGTATACAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp1 HG02145.hp1 others(12): Show HG01433.hp1 HG01884.hp1 HG02145.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp2 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0006t0001 a0003c0008t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0072 others(12): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0005g0105 a0001c0002t0001g0002 a0001c0002t0001g0088 a0001c0002t0002g0052 a0001c0003t0001g0029 a0001c0006t0001g0075 a0003c0008t0001g0092	15	120	0.1250	-54	c.757 others(73): Show c.757+21931_757+21984delGTATATATATGTGTATACATATATAT ATGTGTGTATACATATATATGTGTGTGT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68661363	GTATATAT others(47): Show GTATATATATGTGTATACATATATATATGTGTGTATACATATATATGTGT GTGTA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0064 a0001c0001t0002g0065	2	120	0.0167	-54	c.757 others(73): Show c.757+21939_757+21992delATGTGTATACATATATATATGTGTGT ATACATATATATGTGTGTGTATATATAT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68661380	CATATATA others(47): Show CATATATATATGTGTGTATACATATATATGTGTGTGTATATATATGTGTA TACAT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02040.hp1 HG02717.hp1 others(3): Show HG01978.hp2 HG02040.hp1 HG02717.hp1 HG03139.hp1 HG03453.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0100 others(3): Show a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0002g0100 a0001c0002t0001g0054 a0002c0004t0001g0031 a0002c0004t0001g0098	6	120	0.0500	-54	c.757 others(73): Show c.757+21957_757+22010delATGTGTGTATACATATATATGTGTGT GTATATATATGTGTATACATATATATAT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRG2_chrX_18984307_19127468	19073256	CTCAATGC others(47): Show CTCAATGCTATCCAGGTCATCAACAAAGAGGATCTGAACAGCCACTGGTT CTTAG	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0020 a0003c0003t0004g0020	1	188	0.0053	-54	c.-1- others(69): Show c.-1-4475_-1-4422delCTAAGAACCAGTGGCTGTTCAGATCCTCTT TGTTGATGACCTGGATAGCATTGA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG3_chr16_57663306_57694378	57680105	TCCTCCCC others(47): Show TCCTCCCCTCCCTATATTCCCTTCCCCTCTGTTCACCTCCTCTCCCCTCC CTTAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02886.hp2 others(2): Show HG02055.hp1 HG02622.hp2 HG02886.hp2 HG03540.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0007 a0001c0002t0003 a0001c0002t0009 others(1): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0009 a0002c0004t0007	a0001c0001t0007g0192 a0001c0002t0003g0260 a0001c0002t0009g0261 others(2): Show a0001c0001t0007g0192 a0001c0002t0003g0260 a0001c0002t0009g0261 a0002c0004t0007g0218 a0002c0004t0007g0236	5	448	0.0112	-54	c.668 others(68): Show c.668-126_668-73delACCTCCTCTCCCCTCCCTTACCCTCCCCTCC CTATATTCCCTTCCCCTCTGTTC	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADORA3_chr1_111494429_111508633	111502204	TATATAGG others(47): Show TATATAGGATATATATTTATTATAATGAATATATAGGATATATTTATTAT AATAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	458	0.0022	-54	c.350 others(69): Show c.350+747_350+800delTTATTATAATAAATATATCCTATATATTCA TTATAATAAATATATATCCTATAT	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/1			chr1	TogoVar
ADORA3_chr1_111494429_111508633	111502233	TATATAGG others(47): Show TATATAGGATATATTTATTATAATAAATATATAGGATATATATTCATTAT AATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp2 HG02109.hp2 others(8): Show HG01192.hp1 HG02055.hp2 HG02109.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0007 a0001c0001t0007g0069 a0001c0001t0002g0007 a0001c0001t0007g0069	11	458	0.0240	-54	c.350 others(69): Show c.350+718_350+771delTTATTATAATGAATATATATCCTATATATT TATTATAATAAATATATCCTATAT	ADORA3	ENSG00000282608.2	transcript	ENST00000241356.5	protein_coding	1/1			chr1	TogoVar
ADRA1D_chr20_4215630_4254287	4224541	GGGGCCAG others(47): Show GGGGCCAGGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGAC CAAGC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp2 others(69): Show HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp1 HG02559.hp1 HG03471.hp1 HG03579.hp2 HG03704.hp2 NA18612.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0018 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0004t0005 a0005c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(64): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0107 a0001c0001t0005g0334 a0001c0001t0015g0098 a0001c0001t0018g0333 a0001c0003t0001g0054 a0001c0003t0001g0057 a0001c0003t0001g0059 a0002c0002t0001g0278 a0002c0002t0002g0267 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0286 a0002c0002t0004g0376 a0002c0002t0004g0377 a0002c0002t0005g0381 a0002c0004t0005g0391 a0002c0004t0005g0392 a0005c0012t0001g0279	72	452	0.1593	-54	c.111 others(73): Show c.1112-2465_1112-2412delGCTTGGTCTCACAGGCACCTGCAGCC TCTATCCAGGATGGAACACCCCTGGCCC	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AFF1_chr4_86930011_87146039	87022550	ATATATAT others(47): Show ATATATATATATATATATATATATATATATATATCTATCTATATCTATCT GTGTG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02895.hp2 others(7): Show HG02280.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1 HG03669.hp1 HG04184.hp1 HG06807.hp2 NA19043.hp1 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 others(4): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 a0001c0003t0020 a0001c0003t0062 a0001c0003t0066 a0001c0014t0005	a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0003g0108 others(7): Show a0001c0003t0001g0179 a0001c0003t0001g0180 a0001c0003t0003g0108 a0001c0003t0007g0206 a0001c0003t0007g0235 a0001c0003t0020g0178 a0001c0003t0020g0183 a0001c0003t0062g0182 a0001c0003t0066g0207 a0001c0014t0005g0181	10	294	0.0340	-54	c.39- others(71): Show c.39-23606_39-23553delATATATATATATATATATATATATCTAT CTATATCTATCTGTGTGTATATATAT	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGBL1_chr15_86074871_86921156	86827435	ATATATAT others(47): Show ATATATATGTGTGTGTATATATATATATATATATACATATATATATATAT GTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG01099.hp2 others(5): Show HG00738.hp1 HG00738.hp2 HG01099.hp2 HG02647.hp1 HG02647.hp2 HG03098.hp2 HG03471.hp1 HG03579.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0022	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0010c0017 a0022c0049	a0001c0001t0011 a0001c0002t0011 a0001c0003t0002 others(4): Show a0001c0001t0011 a0001c0002t0011 a0001c0003t0002 a0002c0005t0055 a0002c0005t0061 a0010c0017t0012 a0022c0049t0048	a0001c0001t0011g0094 a0001c0002t0011g0005 a0001c0003t0002g0046 others(5): Show a0001c0001t0011g0094 a0001c0002t0011g0005 a0001c0003t0002g0046 a0001c0003t0002g0047 a0002c0005t0055g0033 a0002c0005t0061g0028 a0010c0017t0012g0090 a0022c0049t0048g0013	8	132	0.0606	-54	c.315 others(75): Show c.3159-79644_3159-79591delGTGTGTGTATATATATATATATAT ATACATATATATATATATGTGTGTATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	49084104	GAGTCTCT others(47): Show GAGTCTCTAGGAAGTTCCAAATTTCCCCACATCTTCCTGTCTTCCGAGCC CTCCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00639.hp2 others(65): Show HG00609.hp1 HG00639.hp1 HG00639.hp2 HG01071.hp2 HG01167.hp2 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02155.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 HG03710.hp2 HG03831.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18970.hp1 NA18977.hp1 NA18983.hp2 NA19002.hp1 NA19030.hp1 NA19043.hp2 NA19068.hp2 NA19082.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0004 a0002c0003 others(3): Show a0001c0001 a0001c0004 a0002c0003 a0003c0005 a0004c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0004t0003 a0001c0004t0010 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0003t0008 a0003c0005t0001 a0004c0009t0004 a0006c0008t0004	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(65): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0075 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0004g0041 a0001c0001t0004g0065 a0001c0001t0004g0078 a0001c0001t0004g0081 a0001c0001t0004g0095 a0001c0001t0005g0066 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0006g0045 a0001c0001t0007g0021 a0001c0001t0007g0085 a0001c0001t0007g0098 a0001c0001t0008g0047 a0001c0001t0009g0039 a0001c0001t0011g0010 a0001c0001t0011g0096 a0001c0001t0013g0006 a0001c0001t0013g0090 a0001c0001t0014g0063 a0001c0001t0016g0001 a0001c0004t0003g0016 a0001c0004t0003g0051 a0001c0004t0003g0052 a0001c0004t0003g0062 a0001c0004t0003g0064 a0001c0004t0010g0048 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0015 a0002c0003t0001g0059 a0002c0003t0005g0017 a0002c0003t0007g0061 a0002c0003t0008g0088 a0003c0005t0001g0060 a0004c0009t0004g0020 a0006c0008t0004g0094	68	104	0.6539	-54	c.378 others(73): Show c.378-38358_378-38305delTGGAGGGCTCGGAAGACAGGAAGATG TGGGGAAATTTGGAACTTCCTAGAGACT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	4/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15529842	ATATTTCC others(47): Show ATATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTAT ATACG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG04228.hp1 HG02451.hp2 HG02818.hp1 HG04228.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0013c0016 a0001c0001 a0001c0003 a0013c0016	a0001c0001t0001 a0001c0003t0001 a0013c0016t0005 a0001c0001t0001 a0001c0003t0001 a0013c0016t0005	a0001c0001t0001g0035 a0001c0003t0001g0034 a0013c0016t0005g0047 a0001c0001t0001g0035 a0001c0003t0001g0034 a0013c0016t0005g0047	3	236	0.0127	-54	c.409 others(73): Show c.409+14876_409+14929delCGTATATAGAATATCTATATGGAAAT ACGTATATAGAATATCTATATGGAAATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGPAT4_chr6_161124967_161279061	161153914	GGGTCACA others(47): Show GGGTCACACACGGCCCCATGGTCATACACGGCCCCACAGTCATACGTGGC CCCAC	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0093 a0001c0001t0068g0093	1	264	0.0038	-54	c.510 others(69): Show c.510+181_510+234delGTGGGGCCACGTATGACTGTGGGGCCGTGT ATGACCATGGGGCCGTGTGTGACC	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	4/8			chr6	TogoVar
AHRR_chr5_316714_443285	443202	AGGCAGCG others(47): Show AGGCAGCGAAGGCGGAGGGGGCGGCGGGGGCGGCGGCGGCGGCGGCGGCG GCGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG01081.hp1 HG01175.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0003 a0003c0004t0004g0014 a0003c0004t0004g0003 a0003c0004t0004g0014	2	268	0.0075	-54	c.83 others(65): Show c.8369_*8422delGGCAGCGAAGGCGGAGGGGGCGGCGGGGGCGGCG GCGGCGGCGGCGGCGGCGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		4918		chr5	TogoVar
AK8_chr9_132720578_132883284	132821805	GTGTATGT others(47): Show GTGTATGTATATACAAATATATACATATATGTGTATGTATATACAAATAT ATACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00558.hp2 others(5): Show HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG02451.hp2 NA18988.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0064 others(5): Show a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092	8	266	0.0301	-54	c.889 others(71): Show c.889+1346_889+1399delTGTATATATTTGTATATACATACACATA TATGTATATATTTGTATATACATACA	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132821835	GTGTATGT others(47): Show GTGTATGTATATACAAATATATACATATATGTGTATGTATATACAAATAT ATACA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	266	0.0038	-54	c.889 others(71): Show c.889+1316_889+1369delTGTATATATTTGTATATACATACACATA TATGTATATATTTGTATATACATACA	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
AKAP17A_chrX_1586604_1607520	1587660	CCCCTCCC others(47): Show CCCCTCCCTTCCCCTCCTCTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCT CCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	151	0.0066	-54	c.-41 others(65): Show c.-4128_-4075delCCCTCCCTTCCCCTCCTCTCCCTTCCCTTCCCCT CCCCTCCCCTCCCCTCCCTT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3943		chrX	TogoVar
AKAP6_chr14_32324298_32842684	32510414	GTATATAT others(47): Show GTATATATATACATATATATATGTGTATATATATATACATATATATGTGT ATATA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	154	0.0065	-54	c.325 others(73): Show c.325-25131_325-25078delTACATATATATATGTGTATATATATA TACATATATATGTGTATATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ALDH3B2_chr11_67657155_67679623	67670135	GGTGTCTG others(47): Show GGTGTCTGTGTGTGTATGGGTGTCTGTGTCCACGTGTGTCTGTGTGTGTA TGGGT	G G	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0184 a0002c0002t0022g0184	1	390	0.0026	-54	c.-24 others(73): Show c.-244-2554_-244-2501delACCCATACACACACAGACACACGTGG ACACAGACACCCATACACACACAGACAC	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALG6_chr1_63362627_63443553	63400243	ACGTATAT others(47): Show ACGTATATATATGTATATATATATACGTATATATATATACGTATATATAT ATACG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp1 HG01258.hp2 others(3): Show HG01074.hp2 HG01256.hp1 HG01258.hp2 HG03490.hp1 HG03492.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0069 a0001c0001t0002g0070 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072	6	388	0.0155	-54	c.168 others(71): Show c.168-2010_168-1957delCGTATATATATGTATATATATATACGTA TATATATATACGTATATATATATACG	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ALG9_chr11_111777195_111876581	111876386	CAATTTAT others(47): Show CAATTTATGCACCATCCATTCAATATATGGTTGCCATCAAGACAATCAGG ATACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0144 a0001c0001t0006g0144	1	314	0.0032	-54	c.-49 others(65): Show c.-4958_-4905delTGTATCCTGATTGTCTTGATGGCAACCATATATT GAATGGATGGTGCATAAATT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding		4806		chr11	TogoVar
ALOX12_chr17_6991049_7015754	7004322	ATTAATTT others(47): Show ATTAATTTAATATTAAATTAAATTTTAATATTTTTAATTTTAATATTAAT TTAAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03654.hp1 HG02698.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	404	0.0050	-54	c.116 others(71): Show c.1162-924_1162-871delATTAAATTAAATTTTAATATTTTTAATT TTAATATTAATTTAATTTAATTTAAT	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107944	AGAAAGAA others(47): Show AGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAA GGAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG02723.hp2 others(2): Show HG00639.hp1 HG01167.hp2 HG02723.hp2 HG03195.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003	a0001c0001t0002g0136 a0001c0001t0002g0348 a0001c0001t0004g0393 others(2): Show a0001c0001t0002g0136 a0001c0001t0002g0348 a0001c0001t0004g0393 a0001c0002t0001g0135 a0001c0002t0003g0413	5	422	0.0119	-54	c.168 others(71): Show c.1684+470_1684+523delCTTCCTTTCTTTCTTTCTCTCTCTCTCT CTCTCCTTCCTTTCTTTCTTTCTTTC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMOTL1_chr11_94763356_94881748	94878919	GTAAGCAG others(47): Show GTAAGCAGATGGCTAACTGAAAAAACATTATTGAGGCCCTTGTTGGAAAT GTGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	246	0.0041	-54	c.81 others(65): Show c.8125_*8178delTAAGCAGATGGCTAACTGAAAAAACATTATTGAG GCCCTTGTTGGAAATGTGAC	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding		2172		chr11	TogoVar
ANKRD31_chr5_75063297_75241878	75206234	AAAAAAAA others(47): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0291 a0005c0004t0001g0291	1	334	0.0030	-54	c.403 others(69): Show c.403+123_403+176delATATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206236	AAAAAAAA others(47): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA20129.hp2 HG02717.hp2 NA20129.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0295 a0005c0004t0001g0298 a0005c0004t0001g0295 a0005c0004t0001g0298	2	334	0.0060	-54	c.403 others(69): Show c.403+121_403+174delATATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD36C_chr2_95844548_95996824	95963944	AATATATA others(47): Show AATATATATATATAAATATATATATATAAATATATATATATATATATATA TATAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0001 a0012c0026t0001	a0012c0026t0001g0032 a0012c0026t0001g0032	1	298	0.0034	-54	c.800 others(71): Show c.800-1451_800-1398delATATATATATATATATATATATATATTT ATATATATATATTTATATATATATAT	ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	6/87			chr2	TogoVar
ANXA10_chr4_168087537_168192736	168155862	GATATATC others(47): Show GATATATCATATATTATATGTTATATATAATATATGATATATCATATATT ATATT	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18944.hp2 NA18945.hp2 others(5): Show HG02132.hp2 NA18944.hp2 NA18945.hp2 NA18991.hp2 NA19011.hp2 NA19066.hp1 NA19076.hp2 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 others(5): Show a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0072 a0002c0002t0001g0075 a0002c0002t0001g0084 a0002c0002t0001g0091	8	284	0.0282	-54	c.196 others(71): Show c.196-6607_196-6554delATCATATATTATATGTTATATATAATAT ATGATATATCATATATTATATTATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2_chr15_60342151_60402986	60349853	TGAAGGCA others(47): Show TGAAGGCAGGGAGGCAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGG CAGGG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02970.hp2 others(1): Show HG02145.hp1 HG02257.hp1 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0256	4	334	0.0120	-54	c.838 others(69): Show c.838-710_838-657delCCCTGCCTCCCTGCCTTCTCCTGCCTCCTT GCCTTCCCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350101	GAGGGGAA others(47): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03490.hp2 HG02683.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	334	0.0060	-54	c.838 others(69): Show c.838-958_838-905delGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2131480	ACACCCGG others(47): Show ACACCCGGTGGACAGGCAGCCACGAGGGGACAGGGCCCATCGGCCACGAT CTAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG03540.hp2 HG01884.hp2 HG01891.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0107	3	406	0.0074	-54	c.462 others(69): Show c.462+937_463-944delCCTAGATCGTGGCCGATGGGCCCTGTCCCC TCGTGGCTGCCTGTCCACCGGGTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	5/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2131513	GGCCCATC others(47): Show GGCCCATCGGCCACGATCTAGGCACCCGGTGGACAGGCAGCCACGCGGGG ACAGC	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	406	0.0025	-54	c.462 others(69): Show c.462+904_462+957delGCTGTCCCCGCGTGGCTGCCTGTCCACCGG GTGCCTAGATCGTGGCCGATGGGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	5/31			chr19	TogoVar
AQP8_chr16_25211947_25233932	25216145	CTTTCTTT others(47): Show CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0023 a0001c0004t0003g0023	1	420	0.0024	-54	c.-90 others(63): Show c.-900_-847delTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		801		chr16	TogoVar
ARHGAP19_chr10_97217179_97297637	97218909	GTGTGTGT others(47): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATAT ATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(44): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02148.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp2 HG02630.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp2 NA18943.hp1 NA18965.hp1 NA18978.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0226 a0001c0001t0002g0011 a0001c0002t0002g0014 others(44): Show a0001c0001t0001g0226 a0001c0001t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0220 a0001c0002t0008g0052 a0001c0002t0008g0053	47	242	0.1942	-54	c.71 others(65): Show c.7159_*7212delTATATATATATATATATATATACACACACACACA CACACACACACACACACACA	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding		3269		chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144581994	ACCCTGCG others(47): Show ACCCTGCGACAGGCCTGGTCCTCGCCATCACCGGGCTGGTGAGGTGTCTC GTTAG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	246	0.0041	-54	c.81- others(67): Show c.81-771_81-718delCTAACGAGACACCTCACCAGCCCGGTGATGGC GAGGACCAGGCCTGTCGCAGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11			chr8	TogoVar
ARHGAP44_chr17_12784498_12996643	12913644	TGGCTCAC others(47): Show TGGCTCACGCCTGTAATCCTAACACTTTGGGAGGCCGAGGCAGGTGGATT ACCTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp2 HG00733.hp1 others(74): Show HG00423.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp2 HG01109.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG02071.hp1 HG02132.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp2 NA18906.hp2 NA18943.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18963.hp1 NA18968.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp2 NA19060.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0014 a0002c0007 a0003c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0007 a0001c0006t0001 a0001c0006t0003 a0001c0008t0015 a0001c0014t0031 a0002c0007t0001 a0002c0007t0003 a0003c0017t0003	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0030 others(74): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0003g0074 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0085 a0001c0001t0003g0088 a0001c0001t0003g0164 a0001c0001t0003g0172 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0014 a0001c0001t0004g0230 a0001c0001t0005g0050 a0001c0001t0005g0057 a0001c0001t0005g0061 a0001c0001t0005g0072 a0001c0001t0007g0026 a0001c0001t0007g0038 a0001c0001t0008g0037 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0009g0096 a0001c0001t0009g0151 a0001c0001t0011g0058 a0001c0001t0012g0095 a0001c0001t0016g0141 a0001c0001t0017g0040 a0001c0001t0022g0135 a0001c0001t0023g0220 a0001c0001t0027g0222 a0001c0001t0029g0177 a0001c0001t0034g0018 a0001c0002t0001g0089 a0001c0002t0003g0063 a0001c0002t0003g0067 a0001c0003t0001g0025 a0001c0003t0001g0045 a0001c0003t0001g0160 a0001c0003t0001g0171 a0001c0003t0001g0178 a0001c0003t0001g0188 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0003t0001g0211 a0001c0004t0002g0126 a0001c0005t0001g0224 a0001c0005t0007g0039 a0001c0006t0001g0175 a0001c0006t0001g0184 a0001c0006t0003g0077 a0001c0008t0015g0134 a0001c0014t0031g0084 a0002c0007t0001g0011 a0002c0007t0003g0052 a0003c0017t0003g0068	77	230	0.3348	-54	c.276 others(71): Show c.276-2201_276-2148delGGCTCACGCCTGTAATCCTAACACTTTG GGAGGCCGAGGCAGGTGGATTACCTG	ARHGAP44	ENSG00000006740.18	transcript	ENST00000379672.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARHGEF10_chr8_1818926_1963641	1841836	ACGGGAAC others(47): Show ACGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGC CGCGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0104 a0001c0104	a0001c0104t0002 a0001c0104t0002	a0001c0104t0002g0157 a0001c0104t0002g0157	1	363	0.0028	-54	c.-47 others(71): Show c.-47-1463_-47-1410delGCGGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841892	GGGAACTG others(47): Show GGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGACC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02056.hp2 HG03710.hp2 others(4): Show HG01993.hp1 HG02056.hp2 HG03710.hp2 NA18950.hp1 NA18971.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0006 others(3): Show a0001c0003 a0001c0004 a0001c0006 a0001c0045 a0002c0017 a0002c0022	a0001c0003t0001 a0001c0004t0002 a0001c0004t0004 others(4): Show a0001c0003t0001 a0001c0004t0002 a0001c0004t0004 a0001c0006t0001 a0001c0045t0010 a0002c0017t0006 a0002c0022t0003	a0001c0003t0001g0059 a0001c0004t0002g0252 a0001c0004t0004g0140 others(4): Show a0001c0003t0001g0059 a0001c0004t0002g0252 a0001c0004t0004g0140 a0001c0006t0001g0263 a0001c0045t0010g0226 a0002c0017t0006g0114 a0002c0022t0003g0170	7	363	0.0193	-54	c.-47 others(71): Show c.-47-1445_-47-1392delGCGGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGACCGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841910	GGGAACTG others(47): Show GGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGACCGGAACTGGGGCCG CGACC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp2 NA18522.hp1 others(2): Show HG02970.hp1 HG03098.hp2 NA18522.hp1 NA18983.hp1 NA20300.hp1	a0001 a0021 a0001 a0021	a0001c0005 a0001c0008 a0001c0047 others(1): Show a0001c0005 a0001c0008 a0001c0047 a0021c0142	a0001c0005t0027 a0001c0008t0002 a0001c0047t0009 others(1): Show a0001c0005t0027 a0001c0008t0002 a0001c0047t0009 a0021c0142t0007	a0001c0005t0027g0195 a0001c0008t0002g0152 a0001c0047t0009g0331 others(2): Show a0001c0005t0027g0195 a0001c0008t0002g0152 a0001c0047t0009g0331 a0001c0047t0009g0334 a0021c0142t0007g0096	5	363	0.0138	-54	c.-47 others(71): Show c.-47-1409_-47-1356delACCGGAACTGGGGCCGCGACCGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841946	CGGAACTG others(47): Show CGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01168.hp1 others(13): Show HG00280.hp2 HG00438.hp2 HG01168.hp1 HG01261.hp2 HG01358.hp2 HG01943.hp1 HG01952.hp1 HG01993.hp2 HG02293.hp1 HG02735.hp1 NA18961.hp1 NA18962.hp1 NA18970.hp1 NA18983.hp2 NA19007.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0011 others(11): Show a0001c0004 a0001c0005 a0001c0011 a0001c0014 a0001c0019 a0001c0036 a0001c0110 a0001c0111 a0001c0122 a0002c0017 a0002c0022 a0002c0025 a0002c0033 a0002c0074	a0001c0004t0002 a0001c0005t0001 a0001c0011t0002 others(11): Show a0001c0004t0002 a0001c0005t0001 a0001c0011t0002 a0001c0014t0066 a0001c0019t0001 a0001c0036t0004 a0001c0110t0046 a0001c0111t0047 a0001c0122t0001 a0002c0017t0002 a0002c0022t0001 a0002c0025t0059 a0002c0033t0001 a0002c0074t0002	a0001c0004t0002g0230 a0001c0004t0002g0240 a0001c0005t0001g0051 others(13): Show a0001c0004t0002g0230 a0001c0004t0002g0240 a0001c0005t0001g0051 a0001c0011t0002g0082 a0001c0014t0066g0119 a0001c0019t0001g0215 a0001c0019t0001g0217 a0001c0036t0004g0177 a0001c0110t0046g0107 a0001c0111t0047g0123 a0001c0122t0001g0216 a0002c0017t0002g0056 a0002c0022t0001g0258 a0002c0025t0059g0105 a0002c0033t0001g0257 a0002c0074t0002g0052	16	363	0.0441	-54	c.-47 others(71): Show c.-47-1391_-47-1338delACCGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1841964	CGGAACTG others(47): Show CGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCG CGGCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG00140.hp2 HG01070.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0041 a0002c0017t0002g0042 a0002c0017t0002g0041 a0002c0017t0002g0042	2	363	0.0055	-54	c.-47 others(71): Show c.-47-1319_-47-1266delGCGGGAACTGGGGCCGCGGCGGGAACTG GGGCCGCGGCGGGAACTGGGGCCGCG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888278	TTCTGAGG others(47): Show TTCTGAGGAGGGGTGGGGTGAGGGTTTGTGAGGATATGCTGAGTGGGATG TTGAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0183 a0001c0003t0001g0183	1	363	0.0028	-54	c.118 others(73): Show c.1182+2573_1182+2626delCTGAGGAGGGGTGGGGTGAGGGTTTG TGAGGATATGCTGAGTGGGATGTTGACT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF11_chr1_156929840_157050742	157035952	TATATATA others(47): Show TATATATATATGAATCTATATATAGGAATATATATATATGAATCTATATA TAGGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG02572.hp1 HG03139.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0021 a0002c0004t0021	a0002c0004t0021g0174 a0002c0004t0021g0175 a0002c0004t0021g0174 a0002c0004t0021g0175	2	362	0.0055	-54	c.32+ others(69): Show c.32+8293_32+8346delTCCTATATATAGATTCATATATATATATTC CTATATATAGATTCATATATATAT	ARHGEF11	ENSG00000132694.19	transcript	ENST00000368194.8	protein_coding	1/40			chr1	TogoVar
ARHGEF18_chr19_7343937_7477478	7362011	AAGAAGGA others(47): Show AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03130.hp1 HG03225.hp1 HG01070.hp1 HG03130.hp1 HG03225.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0014 a0001c0001 a0001c0002 a0007c0014	a0001c0001t0001 a0001c0002t0003 a0007c0014t0004 a0001c0001t0001 a0001c0002t0003 a0007c0014t0004	a0001c0001t0001g0173 a0001c0002t0003g0075 a0007c0014t0004g0111 a0001c0001t0001g0173 a0001c0002t0003g0075 a0007c0014t0004g0111	3	298	0.0101	-54	c.-11 others(71): Show c.-110-677_-110-624delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7362119	GAGAAGGA others(47): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGAAGGA GAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00738.hp1 others(5): Show HG00280.hp1 HG00423.hp1 HG00738.hp1 HG01346.hp2 HG02486.hp2 NA18941.hp2 NA18964.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0016 a0001c0002t0003 a0004c0011t0003	a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0008g0253 others(5): Show a0001c0001t0002g0153 a0001c0001t0002g0159 a0001c0001t0008g0253 a0001c0001t0016g0176 a0001c0002t0003g0127 a0001c0002t0003g0152 a0001c0002t0003g0157 a0004c0011t0003g0167	8	298	0.0269	-54	c.-11 others(71): Show c.-110-659_-110-606delAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGGAGAAGAAGGAGAAGAAG	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7385887	CCTCCCTC others(47): Show CCTCCCTCCCTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTCTCTC CCCCT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02109.hp1 HG02572.hp2 others(3): Show HG01099.hp2 HG02109.hp1 HG02572.hp2 HG02615.hp1 HG03540.hp2 HG03579.hp1	a0002 a0030 a0002 a0030	a0002c0007 a0030c0037 a0002c0007 a0030c0037	a0002c0007t0001 a0030c0037t0001 a0002c0007t0001 a0030c0037t0001	a0002c0007t0001g0011 a0002c0007t0001g0016 a0002c0007t0001g0017 others(3): Show a0002c0007t0001g0011 a0002c0007t0001g0016 a0002c0007t0001g0017 a0002c0007t0001g0021 a0002c0007t0001g0022 a0030c0037t0001g0020	6	298	0.0201	-54	c.967 others(71): Show c.967+2692_967+2745delCCTCTCTCTCTCCCTCTCTCCCTCTCTC TCTCTCTCTCTCTCCCCCTCTCCCTC	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	10/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF28_chr5_73621196_73946990	73741375	GTGTGTGT others(47): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp1 HG02486.hp1 others(6): Show HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02698.hp1 HG02735.hp2 HG03209.hp1 HG03486.hp2 HG03540.hp1 NA19011.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0013	a0001c0025 a0002c0002 a0002c0006 others(4): Show a0001c0025 a0002c0002 a0002c0006 a0003c0005 a0004c0004 a0008c0011 a0013c0056	a0001c0025t0001 a0002c0002t0002 a0002c0006t0004 others(6): Show a0001c0025t0001 a0002c0002t0002 a0002c0006t0004 a0003c0005t0004 a0004c0004t0001 a0004c0004t0004 a0004c0004t0005 a0008c0011t0002 a0013c0056t0002	a0001c0025t0001g0156 a0002c0002t0002g0158 a0002c0006t0004g0114 others(6): Show a0001c0025t0001g0156 a0002c0002t0002g0158 a0002c0006t0004g0114 a0003c0005t0004g0103 a0004c0004t0001g0167 a0004c0004t0004g0112 a0004c0004t0005g0183 a0008c0011t0002g0162 a0013c0056t0002g0074	9	188	0.0479	-54	c.34- others(69): Show c.34-8460_34-8407delGTGTGTGTGTATATATATATATATATATAT ATATATATATATATATATATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF28_chr5_73621196_73946990	73741377	GTGTGTGT others(47): Show GTGTGTGTGTATATATATATATATATATATATATATATATATATATATAT ATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0009 a0007c0009t0009	a0007c0009t0009g0164 a0007c0009t0009g0164	1	188	0.0053	-54	c.34- others(69): Show c.34-8458_34-8405delGTGTGTGTATATATATATATATATATATAT ATATATATATATATATATATATAT	ARHGEF28	ENSG00000214944.10	transcript	ENST00000513042.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF7_chr13_111110310_111310732	111221229	ATATAGAT others(47): Show ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0070 a0001c0001t0011g0070	1	274	0.0037	-54	c.670 others(71): Show c.670+3354_670+3407delGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATA	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar

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