Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
ACVR2A_chr2_147840029_147935822	147861904	T T	TGTTTTAT others(312): Show TGTTTTATAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01175.hp1 HG01928.hp2 others(10): Show HG00423.hp1 HG01175.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02273.hp1 HG02300.hp2 NA18987.hp2 NA19006.hp1 NA19082.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0001 a0001c0002t0006 a0001c0002t0010	a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 others(10): Show a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0001c0002t0001g0098 a0001c0002t0001g0122 a0001c0002t0006g0022 a0001c0002t0006g0099 a0001c0002t0010g0048	13	338	0.0385	319	c.55+ others(336): Show c.55+16712_55+16713insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGTTTTATAGTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(312): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp1 HG01516.hp1 HG01071.hp2 HG01167.hp1 HG01516.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0010 a0002c0062 a0006c0016 a0001c0010 a0002c0062 a0006c0016	a0001c0010t0011 a0002c0062t0011 a0006c0016t0002 a0001c0010t0011 a0002c0062t0011 a0006c0016t0002	a0001c0010t0011g0117 a0002c0062t0011g0091 a0006c0016t0002g0194 a0001c0010t0011g0117 a0002c0062t0011g0091 a0006c0016t0002g0194	3	228	0.0132	319	c.259 others(340): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTT TCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCC TTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(312): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGG GGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAG GGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGG AGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGG AAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGG GAGGAGGGAGGAGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0087 a0001c0004t0005g0087	1	352	0.0028	319	c.51 others(330): Show c.5165_*5166insCCCTCCCCTCCTCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCT CCTTCCCTCCTCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCC CCCTCCCCTCCTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTC CCCCCCTCCTCCCCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCC TCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADAP1_chr7_892900_959680	906247	G G	GGAGAAAG others(312): Show GGAGAAAGGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGAAAGGAGAAAGG AGAAAGGGAAAGGAGAAAGGAGAAGGAGAAAGGAGAAAGGAGAAAGGAGA AAGGAGAAAGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAA GGAGAAAGGAGAAAGGGAAAGGGGAAAGGGGAAAGGGGAAAGGGAAAGGA GAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGAGA AAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGAGAAAGGGAAAGGGGAAA GGGGAAAGGGGAAAGGGAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	14	0.0714	319	c.389 others(336): Show c.389-1076_389-1075insTTTCCCTTTCCCCTTTCCCCTTTCCCCT TTCCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTT CCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCTCCTTTCC CTTTCCCCTTTCCCCTTTCCCCTTTCCCTTTCTCCTTTCTCCTTTCTCCT TTCTCCTTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTCCTTTCTCCTTT CTCCTTTCTCCTTTCTCCTTCTCCTTTCTCCTTTCCCTTTCTCCTTTCTC CTTTCCCTTTCCCCTTTCCCCTTTCCCCTTTCCCCTTTCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADGRA3_chr4_22382376_22521066	22514245	C C	CAAAGAAT others(312): Show CAAAGAATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02451.hp1 HG02976.hp1 others(1): Show HG01106.hp1 HG02451.hp1 HG02976.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 others(1): Show a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0002c0005t0001g0263	4	290	0.0138	319	c.257 others(336): Show c.257+1282_257+1283insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGATTCTTT	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	1/18			chr4	TogoVar
ADK_chr10_74146221_74714290	74618112	T T	TGTTGTTT others(312): Show TGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20129.hp1 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0063 a0001c0002t0001g0003 a0001c0001t0002g0063 a0001c0002t0001g0003	2	200	0.0100	319	c.877 others(338): Show c.877+17629_877+17630insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGTTGTTTTTT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AGMO_chr7_15195317_15567015	15406286	G G	GTGTGTAT others(312): Show GTGTGTATATATATGGAATATACATATATATGTGTATATATATGGAATAT ACATATATATGTGTATATATATGGAATATACATATATATGTGTATATATA TGGAATATACATATATATGTGTATATATATGGAATATACATATATATGTG TATATATATGGAATATACATATATATGTGTATATATATGGAATATACATA TATATGTGTATATATATGGAATATACATATATATGTGTATATATATGGAA TATACATATATATGTGTATATATATGGAATATACATATATATGTGTATAT ATATGGAATATACATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02451.hp2 HG02622.hp1 others(4): Show HG00639.hp2 HG02451.hp2 HG02622.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001	a0001c0003t0001g0034 a0001c0003t0001g0041 a0001c0003t0001g0189 others(4): Show a0001c0003t0001g0034 a0001c0003t0001g0041 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0002g0188 a0001c0007t0001g0015 a0001c0007t0001g0016	7	236	0.0297	319	c.610 others(338): Show c.610-12108_610-12107insTATATATGTATATTCCATATATATAC ACATATATATGTATATTCCATATATATACACATATATATGTATATTCCAT ATATATACACATATATATGTATATTCCATATATATACACATATATATGTA TATTCCATATATATACACATATATATGTATATTCCATATATATACACATA TATATGTATATTCCATATATATACACATATATATGTATATTCCATATATA TACACATATATATGTATATTCCATATATATACACATATATATGTATATTC CATATATATACACATATATATGTATATTCCATATATATACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	5/12			chr7	TogoVar
AGPS_chr2_177387773_177548834	177453985	C C	CCCCCTCT others(312): Show CCCCCTCTGGCTACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03486.hp1 HG02559.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0094 a0001c0001t0001g0095	2	258	0.0078	319	c.871 others(336): Show c.871-7891_871-7890insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCTCTGGCTACTTTT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AIDA_chr1_222663013_222717491	222697341	T T	TAAAAAAG others(312): Show TAAAAAAGGAGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03239.hp1 HG03239.hp2 others(1): Show HG00639.hp2 HG03239.hp1 HG03239.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0137 a0001c0001t0002g0138 others(1): Show a0001c0001t0002g0071 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0183	4	368	0.0109	319	c.181 others(336): Show c.181-3079_181-3078insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTCCACTCCTTTTTT	AIDA	ENSG00000186063.13	transcript	ENST00000340020.11	protein_coding	2/9			chr1	TogoVar
AK5_chr1_77277019_77564966	77299296	T T	TTGCCCAT others(312): Show TTGCCCATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0243 a0001c0003t0001g0243	1	284	0.0035	319	c.699 others(336): Show c.699+1362_699+1363insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTGCCCATTTTTCT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALKBH8_chr11_107497727_107570735	107529672	T T	TTTTTGTA others(312): Show TTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG01081.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0040 a0002c0004t0001g0271 a0002c0004t0001g0272 others(3): Show a0002c0004t0001g0040 a0002c0004t0001g0271 a0002c0004t0001g0272 a0002c0004t0001g0273 a0002c0004t0001g0276 a0002c0004t0001g0277	7	400	0.0175	319	c.878 others(336): Show c.878+2627_878+2628insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAA	ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding	8/11			chr11	TogoVar
ALK_chr2_29187774_29926586	29913911	T T	TAAAAGAG others(312): Show TAAAAGAGTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACCAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02486.hp2 others(5): Show HG01884.hp2 HG01891.hp2 HG02486.hp2 HG02572.hp1 HG02970.hp1 HG03195.hp2 HG03540.hp2 NA18906.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0004 a0001c0009 a0001c0027 others(5): Show a0001c0004 a0001c0009 a0001c0027 a0001c0040 a0001c0051 a0002c0028 a0005c0013 a0008c0057	a0001c0004t0001 a0001c0009t0005 a0001c0027t0001 others(5): Show a0001c0004t0001 a0001c0009t0005 a0001c0027t0001 a0001c0040t0001 a0001c0051t0001 a0002c0028t0001 a0005c0013t0004 a0008c0057t0002	a0001c0004t0001g0021 a0001c0009t0005g0018 a0001c0027t0001g0013 others(5): Show a0001c0004t0001g0021 a0001c0009t0005g0018 a0001c0027t0001g0013 a0001c0040t0001g0022 a0001c0051t0001g0019 a0002c0028t0001g0014 a0005c0013t0004g0020 a0008c0057t0002g0023	8	80	0.1000	319	c.667 others(336): Show c.667+6081_667+6082insTTTTTTTTTTTTTTTTTTTTGGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTGGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCAACTCTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALPK3_chr15_84812356_84878479	84854229	T T	TCTACTAA others(312): Show TCTACTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01070.hp2 others(9): Show HG00558.hp2 HG00621.hp1 HG01070.hp2 HG01167.hp1 HG02280.hp2 HG02572.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03486.hp2 NA18975.hp1 NA19240.hp2	a0001 a0015 a0024 a0001 a0015 a0024	a0001c0001 a0001c0004 a0001c0043 others(2): Show a0001c0001 a0001c0004 a0001c0043 a0015c0020 a0024c0039	a0001c0001t0007 a0001c0004t0007 a0001c0004t0010 others(3): Show a0001c0001t0007 a0001c0004t0007 a0001c0004t0010 a0001c0043t0007 a0015c0020t0031 a0024c0039t0007	a0001c0001t0007g0213 a0001c0001t0007g0218 a0001c0001t0007g0220 others(7): Show a0001c0001t0007g0213 a0001c0001t0007g0218 a0001c0001t0007g0220 a0001c0004t0007g0032 a0001c0004t0007g0033 a0001c0004t0007g0282 a0001c0004t0010g0280 a0001c0043t0007g0288 a0015c0020t0031g0146 a0024c0039t0007g0084	12	340	0.0353	319	c.165 others(338): Show c.1654-2151_1654-2150insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCACTACTAATTTTT	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
ALS2_chr2_201695267_201785933	201766722	G G	GAAAATGT others(312): Show GAAAATGTGGCACATAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0193 a0001c0003t0002g0193	1	354	0.0028	319	c.175 others(334): Show c.175+506_175+507insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCTATGTGCCACATTTT	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	3/33			chr2	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(312): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGAGAGGGGGGAGAG GGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGA GGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGAGGGGGGAG AGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGG GAAGGGGGAGGGGAGGGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGA GGGGGAGAGGGGGGAGGGGAGGGGAGAGGGGGGAGGGGAGAGGGGAGAGA GAAGGGGGGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0343 a0001c0001t0051g0343	1	356	0.0028	319	c.667 others(334): Show c.667-817_667-816insTCTCCCCTCCCCCCCCCTTCTCTCTCCCCT CTCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCC CTTCCCCCTCTCCCCCCTCTCCCCCCTCCCCTCCCCCTTCCCCCTCTCCC CCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTC TCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCT CTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCC TCTCCCCCTCTCCCCTCTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKLE2_chr12_132720503_132766832	132729595	G G	GGAGGGGG others(312): Show GGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAG GGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGG AGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGT GAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAG GGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGGAGGTGAGAGAAGGGGGA GGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAG GGGGAGGGGGAGGGGGAGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	350	0.0029	319	c.248 others(334): Show c.2483+83_2483+84insGCCTCCCCCTCCCCCTCCCCCTCCCCTCGC CTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCT CTCACCTCCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCC CCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCT CCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCC TTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCAC CTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKRD33B_chr5_10559070_10662816	10634868	T T	TAAAGAAG others(312): Show TAAAGAAGAAAGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAAC ACTTTGGGAGGCCGAGGCGGGTGGATCAGGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp2 HG02970.hp1 others(2): Show HG01358.hp1 HG01884.hp2 HG02970.hp1 HG03130.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0002t0027 a0001c0009t0008 others(1): Show a0001c0002t0004 a0001c0002t0027 a0001c0009t0008 a0001c0009t0064	a0001c0002t0004g0107 a0001c0002t0027g0070 a0001c0009t0008g0304 others(2): Show a0001c0002t0004g0107 a0001c0002t0027g0070 a0001c0009t0008g0304 a0001c0009t0008g0313 a0001c0009t0064g0085	5	324	0.0154	319	c.497 others(336): Show c.497-3146_497-3145insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAACACTTTGGGAGGCCGAGGCGGGTGGATCAGGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAGAAAGGTT	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANXA2_chr15_60342151_60402986	60365044	A A	ATGGCAGT others(312): Show ATGGCAGTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG02723.hp2 others(2): Show HG00597.hp1 HG01192.hp2 HG02723.hp2 HG03453.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0107 a0001c0001t0001g0121 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0268 a0001c0001t0001g0271	5	334	0.0150	319	c.149 others(334): Show c.149-522_149-521insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAATACAACTGCCA	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26564036	T T	TAAAAAGA others(312): Show TAAAAAGAAAAAATATGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19010.hp2 NA19057.hp2 NA18989.hp2 NA19010.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0091 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0091	3	358	0.0084	319	c.147 others(338): Show c.1473+1621_1473+1622insTGGCCGGGTGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAAAATA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APOO_chrX_23828353_23912938	23866470	C C	CAAAAATA others(312): Show CAAAAATAACAGCCATGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGT GGCAGGCGCCTGTAGTCCCAGCTACTCGGCAGGCTGAGGCAGGAGAATGG CGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCA CTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	269	0.0037	319	c.388 others(336): Show c.388+2122_388+2123insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGG CGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTC CTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGCGCCTGCCACTGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCATGGCTGTTATTTTT	APOO	ENSG00000184831.14	transcript	ENST00000379226.9	protein_coding	5/8			chrX	TogoVar
ARHGAP35_chr19_46855997_47010077	46916382	T T	TCTGTCCC others(312): Show TCTGTCCCTCTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01891.hp2 HG02080.hp1 others(11): Show HG00597.hp1 HG01891.hp2 HG02080.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03688.hp1 NA18522.hp2 NA18947.hp1 NA19009.hp2 NA19030.hp1 NA19064.hp2 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0010 a0001c0001 a0001c0003 a0006c0010	a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 others(6): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0028 a0001c0001t0050 a0001c0001t0056 a0001c0003t0004 a0001c0003t0022 a0006c0010t0004	a0001c0001t0004g0030 a0001c0001t0016g0089 a0001c0001t0016g0092 others(11): Show a0001c0001t0004g0030 a0001c0001t0016g0089 a0001c0001t0016g0092 a0001c0001t0016g0094 a0001c0001t0017g0088 a0001c0001t0017g0249 a0001c0001t0017g0250 a0001c0001t0028g0093 a0001c0001t0028g0246 a0001c0001t0050g0251 a0001c0001t0056g0090 a0001c0003t0004g0234 a0001c0003t0022g0073 a0006c0010t0004g0027	14	298	0.0470	319	c.-18 others(338): Show c.-188-2091_-188-2090insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCTGTCCCTCTGTCTT	ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(312): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCTGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAG TGAGCACTTCCCACCCCTGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	246	0.0041	319	c.-18 others(330): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGTGTGG TCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAA GTGCTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCGTGA others(312): Show CCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	246	0.0041	319	c.-20 others(330): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAG TGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687687	A A	ACCCCCGT others(312): Show ACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACC CCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0002t0001g0111 a0001c0001t0001g0107 a0001c0002t0001g0111	2	246	0.0081	319	c.-20 others(330): Show c.-2084_-2083insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTC GCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1842		chr8	TogoVar
ARHGEF38_chr4_105547620_105685914	105629589	T T	TCAAATCT others(312): Show TCAAATCTGCAATGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCCTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0108 a0001c0002t0002g0100 a0001c0002t0002g0108	2	186	0.0108	319	c.509 others(336): Show c.509-1292_509-1291insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCCTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAAATCTGCAATGTTTT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGEF7_chr13_111110310_111310732	111221375	A A	ATATGTCT others(312): Show ATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATAT AGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATATAGATATATATAGACAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	274	0.0037	319	c.670 others(336): Show c.670+3496_670+3497insATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATATAGATATATATAGACATT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(312): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCT CTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	264	0.0038	319	c.102 others(336): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCC CCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(312): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCACTCCCCCTCCCCCTCCCTCCCCCTCC CCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCT CTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	264	0.0038	319	c.102 others(336): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACTCCC CCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(312): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCT CTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	264	0.0038	319	c.102 others(336): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCC CGCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCC CCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(312): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCACTCCCGCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCTCCCCCTC CCCCTCCCCCTCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCT CTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0171 a0003c0003t0001g0171	1	264	0.0038	319	c.102 others(336): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCACTCCCGCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCC CCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(312): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCTCCCTCCCCCTCCCCCTC CCCCTCTCCCTCCCTCCCCCTCCCCCCTCCCTCCCTCCCCTCCTCCCCCT CTCCCCTCCTCCCCCTCCCCACTCACCCTCCCCCTCCCCCTCCCTCCCCT CCCTCCTCCCCCTCCCCTCCCACCCCTCCCTCCCCCCTCCCCCCTCCACT CCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCTCCCCCTCCCCCTCTCCCT CTTCCCCTCTCCCTCTTCCCCTCTCTCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	264	0.0038	319	c.102 others(336): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCTCCCTCCCCCTCCCCCCTC CCTCCCTCCCCTCCTCCCCCTCTCCCCTCCTCCCCCTCCCCACTCACCCT CCCCCTCCCCCTCCCTCCCCTCCCTCCTCCCCCTCCCCTCCCACCCCTCC CTCCCCCCTCCCCCCTCCACTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC TCTCCCCCTCCCCCTCTCCCTCTTCCCCTCTCCCTCTTCCCCTCTCTCCC TCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ARMS2_chr10_122449653_122462352	122451460	A A	ATTTCAGT others(312): Show ATTTCAGTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATAGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	424	0.0024	319	c.-32 others(330): Show c.-3268_-3267insTTTCAGTGGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TAGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	ARMS2	ENSG00000254636.1	transcript	ENST00000528446.1	protein_coding		3192		chr10	TogoVar
ARSB_chr5_78772209_78990310	78802100	T T	TGCAAAGG others(312): Show TGCAAAGGTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0004 a0001c0005t0013g0004	1	360	0.0028	319	c.121 others(340): Show c.1214-20127_1214-20126insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAA TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT GGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGTGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGACCTTTGC	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	6/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78957921	T T	TAAAAATC others(312): Show TAAAAATCGGAAGTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGG TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0333 a0001c0001t0007g0333	1	360	0.0028	319	c.691 others(336): Show c.691-2420_691-2419insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGACTTCCGATTTTT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	3/7			chr5	TogoVar
ART3_chr4_76069709_76117786	76102655	T T	TAATATTA others(312): Show TAATATTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTG TAGCTGGGACTACAGGCACTCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCATCGTGTTACCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19087.hp2 HG02027.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0143 a0001c0001t0001g0145	2	392	0.0051	319	c.938 others(336): Show c.938-1269_938-1268insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG ACTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGTGTAGCTGGGACTACAGGCACTCGCCACCATGCCCGGCTAATTT TTGTATTTTTAGTAGAGACGGGGTTTCATCGTGTTACCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCATGAGCCACCGCGCCCGGCCAATATTAACTTTT	ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ASB7_chr15_100597589_100656701	100637955	C C	CTTTTTTT others(312): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCCCCGCGCCCGGCCTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	368	0.0027	319	c.817 others(336): Show c.817+7926_817+7927insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCCCCGCGCCCGGCCTCTTTTTTTTTTTTTT	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
ASCC3_chr6_100503194_100886329	100757461	T T	TAAGACTT others(312): Show TAAGACTTAAATCTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0074 a0011c0028t0002g0074	1	314	0.0032	319	c.173 others(338): Show c.1737+9103_1737+9104insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCTAGATTTAAGTCTT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41			chr6	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(312): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18940.hp1 NA18972.hp1 HG02015.hp2 NA18940.hp1 NA18972.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201	3	226	0.0133	319	c.108 others(336): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(312): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGGGAGAGAGGGAGGGGGAGAGGGAGGGAGG GAGAGAGGGAGAGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGTAAGAGA GGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGAGAGAGG GAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGAGAGAGGGAGGGGGGAG AAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGGGGGAGGGAGGGAGGGGGA GGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	358	0.0028	319	c.479 others(336): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCC TCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTC CCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCCCTCTCTTAC CCTCCCTCCCTCTCTCCCCCTCCCTCTCCCTCTCCCTCTCTCCCTCCCTC CCTCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCCCTCCCTCCCTCTCTC CCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTCCCTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATP10B_chr5_160558120_160857211	160653838	A A	AAATATAT others(312): Show AAATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACA ACATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGT ATATACGTATATACATATATAAATATATGTTGTATATACGTATATACTAT ATATGTTGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATAAATATATG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18972.hp2 NA19058.hp1 others(1): Show NA18968.hp2 NA18972.hp2 NA19058.hp1 NA19083.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0002 a0018c0036 a0001c0001 a0001c0002 a0018c0036	a0001c0001t0001 a0001c0001t0004 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0007 a0018c0036t0001	a0001c0001t0001g0118 a0001c0001t0004g0058 a0001c0002t0007g0153 others(1): Show a0001c0001t0001g0118 a0001c0001t0004g0058 a0001c0002t0007g0153 a0018c0036t0001g0081	4	236	0.0170	319	c.676 others(336): Show c.676-4583_676-4582insCATATATTTATGTTGTATATACGTATAT ACATATATAAATATATGTTGTATATACGTATATACAACATATATAGTATA TACGTATATACAACATATATTTATATATGTATATACGTATATACAACATA TATTTATATATGTATATACGTATATACAACATATATTTATGTTGTATATA CGTATATACAACATATATTTATGTTGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATAGTATATACGTATATACAACATATATT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(312): Show TCCCCACCTCCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCC ACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCT CCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCC CCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCTCCCCCCA CCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCC ACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCACCTCCCCCACCCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0006 a0001c0001t0072g0006	1	254	0.0039	319	c.39+ others(336): Show c.39+32844_39+32845insCACCCCCCCCCACCTCCCCCACCCCCCC ACCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCC CCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCACCCCCCACCT CCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCACCCCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112766784	A A	AGGAGGAT others(312): Show AGGAGGATGTGGGAGTGCCTGGGGCCACTGTGGGAAGGTGGGGAGGATGT GGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGTGTTG GGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTG TGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGG GGAGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTG GGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGG GGGCCCCTGTGGGAAGGTGG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0245 a0003c0008t0008g0245	1	254	0.0039	319	c.40- others(336): Show c.40-18339_40-18338insAGTGCCTGGGGCCACTGTGGGAAGGTGG GGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTG GGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGG GGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTG GGAAGGTGGGGAGGGTGTGGGAGTGCTGGGGGCCCCTGTGGGAAGGTGGG GAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGG GGGCGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCCTCC others(312): Show TCCCCTCCTTTTCCTCCTTCCCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCC TCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATC CCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTTCTTCCCTTCCTTCC CTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATC CCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCCTCCCCCCA TCCCCTCTCTGCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	254	0.0039	319	c.163 others(334): Show c.163-912_163-911insCTCCTTTTCCTCCTTCCCTCCCTCCCCCCA TCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCT CCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCA CCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCT TTCTTCCCTTCCTTCCCTCATTCCCCTCATTCCCCTCCTTCCCTCCTTCA CCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCT TCCCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25696265	T T	TAAGAATT others(312): Show TAAGAATTGATTTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0041 a0001c0001t0018g0041	1	122	0.0082	319	c.221 others(338): Show c.2212-2894_2212-2893insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGATTTAG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
AUH_chr9_91208823_91366918	91347963	T T	TAAAAAAC others(312): Show TAAAAAACTTTTGTTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	358	0.0028	319	c.418 others(336): Show c.418+7919_418+7920insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTGAACAAAAGTTTTTT	AUH	ENSG00000148090.12	transcript	ENST00000375731.9	protein_coding	3/9			chr9	TogoVar
B4GALNT3_chr12_454939_568509	545724	T T	TGTGGGGA others(312): Show TGTGGGGAGGAGCGAGGAGTGGGGAGGAGTGAGGAGTGGGGAGGTGAGGA GTGGGGAGGTAAGAGGAATGGGGAGGAGCGAGGAGTGGGGAGGAGTGAGG AGTGGGGAGGTGAGAGGAGTGGGGAGGTAAGAGGAATGGGGAGGAGCGAG GAGTGGGGAGGAGCGAGGAGTGGGGAGGAGTGAGGAGTGGGGAGGTGAGA GGAGTGGGGAGGTAAGAGGAATGGGGAGGAGCGAGGAGTGGGGAGGAGCG AGGAGTGGGGAGGTGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGGTGAGA GGAGTGGGGAGGAGCGAGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0140 a0006c0007t0001g0140	1	394	0.0025	319	c.639 others(334): Show c.639+302_639+303insGAGTGGGGAGGTAAGAGGAATGGGGAGGAG CGAGGAGTGGGGAGGAGTGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGT AAGAGGAATGGGGAGGAGCGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGG AGTGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTAAGAGGAATGGGGAG GAGCGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGGTGAGGAGTGGGGAGG AGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGAGCGAGGAGTGGGGAG GAGCGAGGAGTGGGGAGGAGTGAGGAGTGGGGAGGTGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
BBS9_chr7_33124564_33611069	33143869	T T	TGTGTATC others(312): Show TGTGTATCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00741.hp2 others(28): Show HG00609.hp1 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01981.hp1 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02683.hp2 HG03017.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 HG06807.hp1 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19005.hp2 NA19090.hp1 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0024 a0001c0001 a0002c0002 a0011c0024	a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0014 a0011c0024t0011	a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 others(28): Show a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0004g0014 a0001c0001t0013g0041 a0001c0001t0013g0042 a0002c0002t0003g0003 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0035 a0002c0002t0011g0015 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0029 a0011c0024t0011g0024	31	268	0.1157	319	c.-11 others(336): Show c.-11-2360_-11-2359insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGTGTATCTTCTTT	BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(312): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG02027.hp2 others(10): Show HG00735.hp2 HG00741.hp2 HG02027.hp2 HG02135.hp1 NA18943.hp1 NA18948.hp2 NA18967.hp2 NA18992.hp2 NA18999.hp1 NA19006.hp1 NA19012.hp1 NA19054.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0020	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0020c0023	a0001c0001t0015 a0002c0002t0001 a0002c0002t0021 others(2): Show a0001c0001t0015 a0002c0002t0001 a0002c0002t0021 a0004c0004t0003 a0020c0023t0036	a0001c0001t0015g0343 a0002c0002t0001g0147 a0002c0002t0001g0216 others(10): Show a0001c0001t0015g0343 a0002c0002t0001g0147 a0002c0002t0001g0216 a0002c0002t0021g0303 a0004c0004t0003g0137 a0004c0004t0003g0141 a0004c0004t0003g0156 a0004c0004t0003g0161 a0004c0004t0003g0162 a0004c0004t0003g0163 a0004c0004t0003g0197 a0020c0023t0036g0327 a0020c0023t0036g0352	13	364	0.0357	319	c.723 others(336): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTGCATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(312): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	364	0.0028	319	c.723 others(336): Show c.723+6994_723+6995insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTGCATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCHE_chr3_165767904_165842423	165797255	T T	TCCCTCCC others(312): Show TCCCTCCCCCCTCCCTTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTCCC TCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCC TTCCTCCCTCCCTCCCCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCTTCCTTCTTCCCTCCCTCCCCCCTCCCTCCCTCCCCCCTCCCTTCC TTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCCCCC TCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCTTCCTTCTTCCCTCC CTCCTTCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp2 HG02109.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0054 a0002c0002t0002g0055	2	304	0.0066	319	c.151 others(340): Show c.1518-10945_1518-10944insGGGAGGGAGGGAGGAAGGAGGGAG GGAAGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGG GGAGGGAGGGAGGAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAA GGGAGGGGGGAGGGAGGGAGGGGGGAGGGAGGGAAGAAGGAAGGAGGGAG GGAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGAGGGAGGAAGGAG GGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGGGGAGGGA GGGAGGGGGGAGGGAGGGAAGAAGGAAGGAAGGGAGGGGGGAGGG	BCHE	ENSG00000114200.10	transcript	ENST00000264381.8	protein_coding	2/3			chr3	TogoVar

Search by Variant

Search

Search Results