Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(468): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACAC ACACTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0166 a0003c0003t0001g0166	1	94	0.0106	475	c.225 others(494): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCT TCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ULK1_chr12_131889622_131928150	131917118	T T	TGGGGCTC others(468): Show TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGA CGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0277 a0001c0006t0002g0277	1	290	0.0034	475	c.218 others(490): Show c.2182+60_2182+61insCTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGC TTGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917315	G G	GGAGGCTG others(468): Show GGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGG GTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGCTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0243	1	335	0.0030	475	c.218 others(490): Show c.2183-91_2183-90insTGTGGGATGGGGGTCGGGTGGGGCTTGGAG GCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX2_chrX_8164944_8176267	8169859	T T	TCCTCCCT others(468): Show TCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCC CTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCC CACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCT CCCTCCCCACACACCACCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	74	0.0135	475	c.17 others(484): Show c.172_*173insGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGGG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		84		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(468): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCTCCCCCATCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTC CCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCT CCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCTC TCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCC CCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCC CCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCTC ACCCTCTCCCCCTCCCCCTCTCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0026 a0003c0003t0012g0026	1	33	0.0303	475	c.53- others(488): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCTCCCCCATCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCT CCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTC CTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCC TCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTC CCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTC CCCCTCACCCTCTCCCCCTCCCCCTCTCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253208	T T	TCCCCCTC others(468): Show TCCCCCTCCCCATCCTCTCCCCCCTCCCCCATCCCCTCCCCCTCCCCTCC CCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCTCCCC TCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCT CCCCTCCCCCTCTCTCCTCCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCC CTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCTCCC CCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTC TCCCCTCTCCCCCCTCCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0059 a0003c0003t0017g0059	1	228	0.0044	475	c.53- others(488): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCCTCCCCCATCC CCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCC CTCTCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCCTCTCCCCTCC CCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTC CCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTC CCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCT CCCTTCCCCCTCCCTCTCCCCTCTCCCCCCTCCCCCTCCCCCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WNK2_chr9_93179139_93325569	93208749	G G	GTGTTTTG others(468): Show GTGTTTTGTGTGTGTTCATGTGTGCATGTTCTTGCATGTGTTCTCTGTGT TCATGTGTGTTCTGTGTATTCTTTGTGTGTGTTCGTGTGTCAGTGTGTTC TGTGTGTTATTCATGTGTCCATGTGTTCTGTGTATGTTCATGTGTGTGTG TTCTGTGTGTTTTTTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTTCTG TTTTTGTGTGTGTTCTTCGTGTGTGTGTTCTGTATGTTTTTTGTATGTGC GTGTTCTGTGTTCATGTGTTCTGTGTGTTCTTTGTGTGTGTTCTGTGTGC TCTTCCTGTGTGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTTCGTGTGT GTGTTATTCATGTGTGTGTTCTGTGTGTTCTTTGTATGTGTTCTGTGTTT TGTGTGTGTGTTCTGTGTGTTCTTTGTGTGTGTGTTCTGTGTGTTCTTCG TGTGTGTGTTCTGTGTGTTGTCTGCA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0135 a0002c0001t0001g0135	1	137	0.0073	475	c.682 others(494): Show c.682-20944_682-20943insTTTGTGTGTGTTCATGTGTGCATGTT CTTGCATGTGTTCTCTGTGTTCATGTGTGTTCTGTGTATTCTTTGTGTGT GTTCGTGTGTCAGTGTGTTCTGTGTGTTATTCATGTGTCCATGTGTTCTG TGTATGTTCATGTGTGTGTGTTCTGTGTGTTTTTTTGTGTGTGTGTTCTG TGTGTTCTTTGTGTGTTCTGTTTTTGTGTGTGTTCTTCGTGTGTGTGTTC TGTATGTTTTTTGTATGTGCGTGTTCTGTGTTCATGTGTTCTGTGTGTTC TTTGTGTGTGTTCTGTGTGCTCTTCCTGTGTGTGTTCTGTGTGTTCTTCG TGTGTGTGTTCTTCGTGTGTGTGTTATTCATGTGTGTGTTCTGTGTGTTC TTTGTATGTGTTCTGTGTTTTGTGTGTGTGTTCTGTGTGTTCTTTGTGTG TGTGTTCTGTGTGTTCTTCGTGTGTGTGTTCTGTGTGTTGTCTGCATGT	WNK2	ENSG00000165238.17	transcript	ENST00000427277.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr9	TogoVar
WWP2_chr16_69757332_69946739	69820543	C C	CTAATTTT others(468): Show CTAATTTTTATTGTTAGTTTTTTAGAGGCAAGGACCTACTCTGTCACTCA GGCTAGGGTACAGTGGCTCGAGCATAGCTCACTGTAACCTTGAACTCCTG GCCCTAGGCCATAGATCATTCACTGAGCTATGATCATGGCACTGTATTCT AGCCTGGGTGACAGAGTGAGACCCTGTCTCTTTAAAAAAAAAAAAAAAGG AGAGGGGCAGGGGCTGGGCACGGTGCCTGTAATCTCAGCACTTTGGGAGG CTGAGGTGGGTGGATCACAAGGTCAGGAGTTTGAGACCAGCGTGGCCAAT GTGGTGAAACCCCCGTCTCTACTAAAAATACACAAATTAGCCGGGTGTGG TGGCGGGTCCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATT GCTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCCGAGATCGCCCCATTGC ACTCCAGCCTGGGCGACAGAACAAGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0252 a0001c0002t0003g0252	1	312	0.0032	475	c.341 others(494): Show c.341-19583_341-19582insTAATTTTTATTGTTAGTTTTTTAGAG GCAAGGACCTACTCTGTCACTCAGGCTAGGGTACAGTGGCTCGAGCATAG CTCACTGTAACCTTGAACTCCTGGCCCTAGGCCATAGATCATTCACTGAG CTATGATCATGGCACTGTATTCTAGCCTGGGTGACAGAGTGAGACCCTGT CTCTTTAAAAAAAAAAAAAAAGGAGAGGGGCAGGGGCTGGGCACGGTGCC TGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGG AGTTTGAGACCAGCGTGGCCAATGTGGTGAAACCCCCGTCTCTACTAAAA ATACACAAATTAGCCGGGTGTGGTGGCGGGTCCCTGTAGTCCCAGCTGCT TGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGAGAGGCGGAGGTTGCA GTGAGCCGAGATCGCCCCATTGCACTCCAGCCTGGGCGACAGAACAAGA	WWP2	ENSG00000198373.13	transcript	ENST00000359154.7	protein_coding	4/23			chr16	TogoVar
ZNF236_chr18_76817557_76977901	76967452	C C	CTCTGAGT others(468): Show CTCTGAGTTATGTGACTTGGTTGTTGGAAGTGGTGTGATCTGTGACATTT GTGATTTGGTTGTTGGAGGTGGTGTGATCTGTGAGATTTGTGATTTAGTT GTTGGAGGTGATGTGATCTGTGAGGTTTGTGATTTGTTGTTGGAGGTGGT GTGCTCTGAGTTATGTGATTTTGTTGTTGGAGGTGGTGTGCTCTGTGAGA TTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATT TGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGG AGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGG TGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG TGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGCTCTGAGATTTGTG ATTTGGTGTTGGAGGTGGTGGTGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(146): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02293.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG03098.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0006 a0014 others(2): Show a0001 a0006 a0014 a0016 a0018	a0001c0001 a0001c0002 a0001c0014 others(12): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0001c0018 a0001c0022 a0001c0031 a0001c0033 a0001c0034 a0001c0038 a0001c0041 a0006c0021 a0014c0044 a0016c0050 a0018c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0023 a0001c0001t0026 a0001c0001t0038 a0001c0002t0002 a0001c0002t0028 a0001c0002t0031 a0001c0002t0036 a0001c0014t0001 a0001c0014t0027 a0001c0015t0001 a0001c0018t0002 a0001c0022t0001 a0001c0031t0001 a0001c0033t0001 a0001c0034t0001 a0001c0038t0001 a0001c0041t0001 a0006c0021t0002 a0014c0044t0002 a0016c0050t0001 a0018c0025t0002	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(146): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0318 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0002g0009 a0001c0001t0011g0045 a0001c0001t0011g0051 a0001c0001t0011g0053 a0001c0001t0011g0057 a0001c0001t0011g0073 a0001c0001t0011g0106 a0001c0001t0016g0027 a0001c0001t0016g0028 a0001c0001t0016g0071 a0001c0001t0023g0033 a0001c0001t0026g0043 a0001c0001t0038g0070 a0001c0002t0002g0140 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0303 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0028g0272 a0001c0002t0031g0155 a0001c0002t0036g0287 a0001c0014t0001g0082 a0001c0014t0001g0084 a0001c0014t0001g0085 a0001c0014t0001g0091 a0001c0014t0027g0086 a0001c0015t0001g0036 a0001c0015t0001g0037 a0001c0015t0001g0039 a0001c0015t0001g0042 a0001c0015t0001g0074 a0001c0018t0002g0174 a0001c0018t0002g0246 a0001c0018t0002g0291 a0001c0022t0001g0047 a0001c0022t0001g0048 a0001c0031t0001g0010 a0001c0033t0001g0083 a0001c0034t0001g0024 a0001c0038t0001g0041 a0001c0041t0001g0092 a0006c0021t0002g0065 a0006c0021t0002g0275 a0014c0044t0002g0249 a0016c0050t0001g0020 a0018c0025t0002g0284	149	342	0.4357	475	c.542 others(492): Show c.5420-759_5420-758insAGTTATGTGACTTGGTTGTTGGAAGTGG TGTGATCTGTGACATTTGTGATTTGGTTGTTGGAGGTGGTGTGATCTGTG AGATTTGTGATTTAGTTGTTGGAGGTGATGTGATCTGTGAGGTTTGTGAT TTGTTGTTGGAGGTGGTGTGCTCTGAGTTATGTGATTTTGTTGTTGGAGG TGGTGTGCTCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGAT CTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGAT TTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTT GGTGTTGGAGGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGA GGTGGTGGTGTGATCTGTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGT GTGCTCTGAGATTTGTGATTTGGTGTTGGAGGTGGTGGTGTGATCTG	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	30/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ABCA7_chr19_1035107_1070572	1052625	A A	AGAGGAGG others(469): Show AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGG GGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGAGGAGTAGGAGGT GAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAG GAGGGGGAGGGAGAGGAGGAGGGGAGGTAGAGGAGGAGGAGGAGGGAGGA GTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGAGAGGGAG AGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGGAG GGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAGAAAGAGGA GGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAGAAGAAGGG GAAGAATAAGGGGGGAGGAGTAAGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0013 a0009c0010t0001g0013	1	4	0.2500	476	c.322 others(493): Show c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA GGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGG AGGAGGGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAG GAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGAGGTA GAGGAGGAGGAGGAGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAG GAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAG TAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGA GGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAA GGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	23/46			chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(469): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATA GATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATATATC AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATA AATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATA TAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0016 a0016	a0016c0040 a0016c0040	a0016c0040t0001 a0016c0040t0001	a0016c0040t0001g0258 a0016c0040t0001g0258	1	219	0.0046	476	c.130 others(495): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(469): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGA GGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0145 a0002c0001t0002g0145	1	25	0.0400	476	c.259 others(497): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCATCC CATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCT CCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATC CCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCA TCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(469): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGATGGA GGGAGGGAAGGAAAGGAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGG ATGGGATGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGATGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGA GGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0011 a0011	a0011c0062 a0011c0062	a0011c0062t0068 a0011c0062t0068	a0011c0062t0068g0055 a0011c0062t0068g0055	1	25	0.0400	476	c.259 others(497): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCATCC CATCCCTCCTTTCCTTCCCTCCCTCCATCCCATCCCTCCTTTCCTTCCCT CCCTCCATCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATC CCTCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCA TCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(469): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CACGTATACGTATACACACATATACACGTATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACATATACACGTATATACGTA TACGTGTACACACATATATATACACGTATATATACGTATACGTGTACACA CACACACGTATATATACGTATACGTGTACACACACGTATATATACGTATA CGTGTACACACACGTATATATACGTATACGTGTACACACACACGTATATA TACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACACATACACGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	112	0.0089	476	c.48- others(493): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACACGTATACGTATACACACATATACACGTATACGTATACGTGT ACACACATATACACGTATATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATATATACACGTATATATACGTATACGT GTACACACACACACGTATATATACGTATACGTGTACACACACGTATATAT ACGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACAC GTATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACACGTATATACGT ATACGTGTACACACACACGTATATACGTATACGTGTACACACACATACAC GTATATACGTATACGTGTACACACACATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TATATACA others(469): Show TATATACACGTATATATACGTATACGTGTACACACACACACGTATATATA CGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATACGTA TACGTGTACACACACACACGTATATACGTATACGTGTACACACACACACG TATATACGTATACGTGTACACACACATACACGTATATACGTATACGTGTA CACACATATACCTATACGTGTACACACATATACACGTCTACGTGTACACA CATATACACGTCTACGTGTACACACATATACACGTCTACGTGTACACACA TATACACGTCTACGTGTACACACATATACACGTCTACGTGTACACACATA TACACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20129.hp2 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0054 a0001c0002t0017 a0001c0002t0054	a0001c0002t0017g0003 a0001c0002t0054g0002 a0001c0002t0017g0003 a0001c0002t0054g0002	2	64	0.0313	476	c.48- others(493): Show c.48-70583_48-70582insTATACACGTATATATACGTATACGTGTA CACACACACACGTATATATACGTATACGTGTACACACACACGTATATATA CGTATACGTGTACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACACACGTATATACGTATACGTGTACACACACATACA CGTATATACGTATACGTGTACACACATATACCTATACGTGTACACACATA TACACGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATA CACGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATACA CGTCTACGTGTACACACATATACACGTCTACGTGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(469): Show ATGTGTGAGGCTGTGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAG GCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGC GGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCT GTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTG TGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGT GTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGT GTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGC TGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGC TGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGG GGGGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	57	0.0175	476	c.62+ others(489): Show c.62+477_62+478insAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTG TGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTG TGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTG TGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCT GTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCT GTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGG GGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415291	A A	AAATCTGC others(469): Show AAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGG GTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGG CCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTC GGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTA GGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCT GGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCC TAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTGGGGCGGGAGGCCTAGGGGCCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0033 a0004c0003t0033	a0004c0003t0033g0242 a0004c0003t0033g0242	1	264	0.0038	476	c.441 others(493): Show c.441+1870_441+1871insGGGGCGGGAGGCCTAGGGGCCGAGTCTC CCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAG GCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATC TCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGG AGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAG TCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCG GGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCG AATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGG CGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415409	G G	GTGGGAGG others(469): Show GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGG CCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTC GGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGG TGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTA GGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCC TAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGG CCTAGGGGCCGAATCTCCCTGGTCTGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0047 a0002c0002t0006g0047	1	246	0.0041	476	c.441 others(493): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGC GGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCC GAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(469): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCC TGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGC CTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	195	0.0051	476	c.441 others(493): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGA GGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCT GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(469): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGG GCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGT CGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGC CTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0040 a0002c0002t0011g0040	1	195	0.0051	476	c.441 others(493): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCT CCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGA GGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGG GAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(469): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCC TGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGC CTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0205 a0003c0004t0004g0205	1	195	0.0051	476	c.441 others(493): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCT GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415433	G G	GCCTGGTC others(469): Show GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCC GAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGG GTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGG CCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTC GGCTGGGAGGCCTAGGGGCCGAATCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0147 a0005c0005t0014g0147	1	226	0.0044	476	c.441 others(493): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT CCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGG GAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGA GTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCC GAATCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415433	G G	GCCTGGTC others(469): Show GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGA GGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGA ACCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGC GGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGG GCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGG CCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTC GGGCGGGAGGCCTAGGGGCCGAATCTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0004 a0003c0004t0004g0004	1	226	0.0044	476	c.441 others(493): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGA GGCCTAGGGGCCGAACCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAAT CTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGA ATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415477	G G	GTGGGAGG others(469): Show GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGG CCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTC GGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGG TGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTA GGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCT GGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCC TAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGG CCTAGGGGCCGAATCTCCCTGGTCTGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0172	1	240	0.0042	476	c.441 others(493): Show c.441+2063_441+2064insATCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTA GGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCT GGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCC TAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGA GGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415546	T T	TGGGAGGC others(469): Show TGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGC CGAACCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGT CGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTG GTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCC TGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGC CTAGGGGCCGAATCTGCCTGGTCGGGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0028 a0003c0004t0028	a0003c0004t0028g0006 a0003c0004t0028g0006	1	193	0.0052	476	c.441 others(493): Show c.441+2135_441+2136insCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAACCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGG GCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGG CCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC GGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGG GGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCT GGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCC TAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK8_chr9_132720578_132883284	132813002	G G	GCTCACTG others(469): Show GCTCACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCACCGCAG ACACCCAGGACCAGACCCGCTCACTGCCCTGCACCTACACAGATCACCTC ATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCCCTGA GCCTACACAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAG ACCCGCTCACTGCCCTGAGCCTACACAGATCACCTCATTCTGTGGCCACC GCAGACACCCAGGACCAGACCCGCTCACTGCCCTGCACCTACACAGATCA CCTCATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCC CTGAGCCTACACAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGA CCAGACCCGCTCACTGCCCTGCACCTACACAGATCACCTCATTCTGTGGC CACCGCAGACACCCAGGACCAGACCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0049 a0006c0010t0001g0049	1	251	0.0040	476	c.979 others(493): Show c.979+1635_979+1636insAGGGTCTGGTCCTGGGTGTCTGCGGTGG CCACAGAATGAGGTGATCTGTGTAGGTGCAGGGCAGTGAGCGGGTCTGGT CCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGCTCAGG GCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGT GATCTGTGTAGGTGCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCG GTGGCCACAGAATGAGGTGATCTGTGTAGGCTCAGGGCAGTGAGCGGGTC TGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGCT CAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATG AGGTGATCTGTGTAGGTGCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTC TGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGCTCAGGGCAGTGAG	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AK8_chr9_132720578_132883284	132813070	G G	GCTCACTG others(469): Show GCTCACTGCCCTGCACCTACACAGATCACCTCATTCTGTAGCCACCGCAG ACACCCAGGACCAGACCCGCTCACTGCCCTGAGCCTACACAGATCACCTC ATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCCCTGC ACCTACACAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGACCAG ACCCGCTCACTGCCCTGAGCCTACACAGATCACCTCACTCTGTGGCCACC GCAGACACCCAGGACCAGACCCGCTCACTGCCCTGAGCCTACACAGATCA CCTCATTCTGTGGCCACCGCAGACACCCAGGACCAGACCCGCTCACTGCC CTGCACCTACAGAGATCACCTCATTCTGTGGCCACCGCAGACACCCAGGA CCAGACCCGCTCACTGCCCTGCACCTACAGAGATCACCTCATTCTGTGGC CACCGCAGACACCCAGGACCAGACCTC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0108 a0008c0012t0001g0108	1	189	0.0053	476	c.979 others(493): Show c.979+1567_979+1568insGAGGTCTGGTCCTGGGTGTCTGCGGTGG CCACAGAATGAGGTGATCTCTGTAGGTGCAGGGCAGTGAGCGGGTCTGGT CCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTCTGTAGGTGCAGG GCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGT GATCTGTGTAGGCTCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCG GTGGCCACAGAGTGAGGTGATCTGTGTAGGCTCAGGGCAGTGAGCGGGTC TGGTCCTGGGTGTCTGCGGTGGCCACAGAATGAGGTGATCTGTGTAGGTG CAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTCTGCGGTGGCCACAGAATG AGGTGATCTGTGTAGGCTCAGGGCAGTGAGCGGGTCTGGTCCTGGGTGTC TGCGGTGGCTACAGAATGAGGTGATCTGTGTAGGTGCAGGGCAGTGAG	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(469): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGG AGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGA GGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAG GGGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGG GGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGAGGGG GAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	137	0.0073	476	c.248 others(491): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCT CGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTC GCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCC CCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCC CTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGACTC CCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCC CCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTC CCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(469): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG TCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGTGGGAGGGGA GGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAG GGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGG GGAGGGGGAGGGGAAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGG GAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGG GAGGGGGAGGCGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18975.hp1 NA18612.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0052 a0001c0001t0001g0089	2	138	0.0145	476	c.248 others(491): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCGCCTCCCCCTCCCC CTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCC CCTCCCACCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCACTCGTCGACTC CCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCC CCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTC CCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729625	G G	GGAGGAGG others(469): Show GGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGGTGAGGGG AGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGAGGGGAGG GTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGAGAGGGGAG TGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAGTCGACGAGTGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGT GAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGG AAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGG AGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGA GGGGAGGGGGAGGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp2 HG03669.hp2 HG00323.hp2 HG01175.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0141 a0001c0001t0006g0171 a0001c0001t0006g0174 a0001c0001t0001g0141 a0001c0001t0006g0171 a0001c0001t0006g0174	3	346	0.0087	476	c.248 others(491): Show c.2483+53_2483+54insTCCCCCTCCCCTCCCCTCCCCCTCCCCTCG CCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCC CCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCC CTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACC TTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCC ACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTC CCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCT CCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCC CTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729625	G G	GGAGGAGG others(469): Show GGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGGTGAGGGG AGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGAGGGGAGG GTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGAGAGGGGAG TGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAGTCGACGAGTGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGT GAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGG AAGGCGAGGGGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGG AGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGTGA GGGGAGGGGGAGGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	344	0.0029	476	c.248 others(491): Show c.2483+53_2483+54insTCCCCCTCCCCTCCCCTCCCCCTCCCCTCA CCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCTCCC CCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCTCCCCTCGCCTTCCC CTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACC TTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCC ACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCACTCGTCGACTCCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTC CCCTCTCCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCT CCCCTCCCCCTCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCC CTCACCTCCCCCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKRD29_chr18_23593926_23667911	23616126	A A	ATGTATGT others(469): Show ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGCATACTCTACACATACCGTATGTATGTATGCATACTCTA CACATACCGTATGTATGTATGCATACTCTACACATACCGTATGTATGTAT GCATACTCTACACATACCGTATGTATGTATGCATACTCTACACATACCGT ATGTATGTATGTATACTCTACACATAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA19090.hp1 HG01928.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0073 a0001c0001t0007g0089 a0001c0001t0003g0073 a0001c0001t0007g0089	2	248	0.0081	476	c.723 others(493): Show c.723+1605_723+1606insGTATGTGTAGAGTATACATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACATA CGGTATGTGTAGAGTATGCATACATACATACGGTATGTGTAGAGTATGCA TACATACATACGGTATGTGTAGAGTATGCATACATACATACGGTATGTGT AGAGTATGCATACATACATACGGTATGTGTAGAGTATGCATACATACA	ANKRD29	ENSG00000154065.17	transcript	ENST00000592179.6	protein_coding	8/9			chr18	TogoVar
ARHGAP40_chr20_38596809_38655653	38653169	G G	GGTGATGG others(469): Show GGTGATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTGTGGTGT TGATGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGGTGATA ATGATGGTAGTGGTGGTGGTGATGATGGTGATGATTATGATGGTGTGTTG GTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGATGGAAATGAT GATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGG TGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGATGGTG ATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGATAGTGGT GGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGGTGATGA TGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATGCTGGTG GTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0074 a0001c0004t0002g0074	1	42	0.0238	476	c.33 others(487): Show c.3321_*3322insGTGATGGTGGTGGTGGTGATGGAAATGATGATGA TGTTAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTG TTGGTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGAT TATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGT GGTGATGGAAATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGA TAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTG GTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGT GCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGG TGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATG ATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2517		chr20	TogoVar
ARHGAP40_chr20_38596809_38655653	38653172	G G	GATGGTGG others(469): Show GATGGTGGTGGTGGTGATGGAAATGATGATGATGTTAGTTGTGGTGTTGA TGATGGTAATGATAATGATTGTGATGGTGGTGTTGGTGGTGGTGATAATG ATGGTAGTGGTGGTGGTGATGATGGTGATGATGATTATGATGGTGTGTTG GTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGGTGATGGAAATGAT GATGATGTTAATTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGG TGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGTGATGGTG ATGATGATTATGATGGTGGTGGTGGTGGTGGTGGTGCTGGTGATAGTGGT GGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGATGATGGTGATGA TGATTATGATGGTGGTGTTGGTGGTGCTGGTGATGATAATCATGCTGGTG GTGGTGGCGTTGATGATGGTGACAGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	348	0.0029	476	c.33 others(487): Show c.3324_*3325insATGGTGGTGGTGGTGATGGAAATGATGATGATGT TAGTTGTGGTGTTGATGATGGTAATGATAATGATTGTGATGGTGGTGTTG GTGGTGGTGATAATGATGGTAGTGGTGGTGGTGATGATGGTGATGATGAT TATGATGGTGTGTTGGTGGTGCTGGTGATGATAATGGTGGTGGTGGTGGT GGTGATGGAAATGATGATGATGTTAATTGTGGTGTTGATGATGGTAATGA TAATGATTGTGATGGTGGTGTTGGTGGTGCTGGTGATGATAATGGTGGTG GTGGTGGTGATGGTGATGATGATTATGATGGTGGTGGTGGTGGTGGTGGT GCTGGTGATAGTGGTGGTGGTGGTGCTGGTGATGATAATGGTGGTGGTGG TGATGATGGTGATGATGATTATGATGGTGGTGTTGGTGGTGCTGGTGATG ATAATCATGCTGGTGGTGGTGGCGTTGATGATGGTGACAGTA	ARHGAP40	ENSG00000124143.11	transcript	ENST00000373345.9	protein_coding		2520		chr20	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(469): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTC CTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACC CCACCTGTTCACCCGCACTCCACCTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02818.hp2 HG02922.hp2 others(2): Show HG01255.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03540.hp2	a0001 a0012 a0001 a0012	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0001c0100 a0012c0130	a0001c0002t0026 a0001c0003t0026 a0001c0012t0063 others(2): Show a0001c0002t0026 a0001c0003t0026 a0001c0012t0063 a0001c0100t0062 a0012c0130t0061	a0001c0002t0026g0267 a0001c0003t0026g0268 a0001c0012t0063g0266 others(2): Show a0001c0002t0026g0267 a0001c0003t0026g0268 a0001c0012t0063g0266 a0001c0100t0062g0265 a0012c0130t0061g0342	5	332	0.0151	476	c.-48 others(491): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTC CCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGC TGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(469): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCA CCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTC CTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACC CCACCTGTTCACCCGCACTCCACCTGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02056.hp2 HG02129.hp2 others(9): Show HG02040.hp2 HG02056.hp2 HG02129.hp2 HG02683.hp1 HG02735.hp2 HG03490.hp2 HG04199.hp2 NA18951.hp2 NA19007.hp2 NA19011.hp2 NA19085.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0041 a0001c0042 a0001c0068 a0001c0096 a0001c0116 a0002c0022 a0002c0030 a0002c0032	a0001c0001t0003 a0001c0002t0006 a0001c0005t0008 others(8): Show a0001c0001t0003 a0001c0002t0006 a0001c0005t0008 a0001c0041t0003 a0001c0042t0034 a0001c0068t0003 a0001c0096t0033 a0001c0116t0010 a0002c0022t0006 a0002c0030t0003 a0002c0032t0010	a0001c0001t0003g0102 a0001c0001t0003g0120 a0001c0002t0006g0103 others(9): Show a0001c0001t0003g0102 a0001c0001t0003g0120 a0001c0002t0006g0103 a0001c0005t0008g0126 a0001c0041t0003g0128 a0001c0042t0034g0021 a0001c0068t0003g0098 a0001c0096t0033g0132 a0001c0116t0010g0125 a0002c0022t0006g0124 a0002c0030t0003g0123 a0002c0032t0010g0127	12	339	0.0354	476	c.-48 others(491): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGC ACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTC GCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGC TGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCTGC others(469): Show CCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCA CCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTC CTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACC CCACCTGTTCACCCGCACTCCACCTGT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0081 a0002c0081	a0002c0081t0006 a0002c0081t0006	a0002c0081t0006g0134 a0002c0081t0006g0134	1	328	0.0030	476	c.-48 others(491): Show c.-48+996_-48+997insTGCACCCCACCTGTTCACCTGCACCCCACC TGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCT CGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAG CTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825108	C C	CCCGCACC others(469): Show CCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCAC CTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCTCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCC TCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCA GCTGTCCCGCCACACCCCACCTGTTCA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0045 a0001c0052t0045	a0001c0052t0045g0336 a0001c0052t0045g0336	1	352	0.0028	476	c.-48 others(491): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCC CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTT CACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCTCCCGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCT GTTTACTCTGCACCCCAGCTGTCCCGCCACACCCCACCTGTTCACC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(469): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTG TATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAAC ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACTATAT ATGTTGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATG TTGTATATACGTATATACAACATAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0175 a0001c0002t0007g0175	1	98	0.0102	476	c.676 others(493): Show c.676-4666_676-4665insATTTATGTTGTATATACGTATATACAAC ATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTATA TACGTATATACATATATAAATATATGTTGTATATACGTATATACAACATA TATAGTATATACGTATATACAACATATATTTATATATGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATG TTGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATAC AACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGT ATATACGTATATACAACATATATAGTATATACGTATATACAACATATATT TATATATGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(469): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACTATATATG TTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACTATATATGTTGTATATACGTATATACAACATATATTTA TATATGTATATACGTATATACAACATAAATATATGTTGTATATACGTATA TACAACATAAATATATGTTGTATATACGTATATACAACATAAATATATGT TGTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG02027.hp2 others(16): Show HG00438.hp1 HG00558.hp2 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02155.hp2 HG02683.hp1 HG03688.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 NA18957.hp1 NA18968.hp1 NA18986.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19060.hp2 NA19067.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0011 a0002c0004t0004	a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 others(16): Show a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0231 a0001c0001t0003g0043 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0002t0011g0144 a0002c0004t0004g0136	19	116	0.1638	476	c.676 others(493): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATAGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(469): Show ATATATAGTTTATATATATATAGTTTATATATATATACTATATATATAGT TTATATATACTATATATATAGTTTATATATATATACTATATATAGTTTAT ATATATATACTATATATAGTATATATATACTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTATATATATATATAAACTATATATATAGTTTATATATATATAAA CTATATATATAGTTTATATATATATATACTATATATATAGTTTATATATA TATATATACTATATATATAGTTTATATATATATACTATATATATAGTTTA TATATATATACTATATATATAGTTTATATATATATACTATATATATTTTA TATATATATATACTATATATATAGTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	164	0.0061	476	c.331 others(495): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAAATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTTTATATATATATAAACTATATATATAGTTTATATATATATATACTATA TATATAGTATATATATATATAAACTATATATATAGTATATATATATAAAC TATATATATAGTATATATATAAACTATATATATAGTATATATATATAAAC TATATATATAGTATATATATAGTATATATATACTATATATAGTATATATA TATAAACTATATATAGTATATATATATAAACTATATATATAGTATATATA AACTATATATATAGTATATATATATAAACTATATATATATAAACTATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(469): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	476	c.36 others(487): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(469): Show GAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	109	0.0092	476	c.784 others(491): Show c.784-574_784-573insAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGGGA others(469): Show GAGGGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0175 a0006c0007t0001g0175	1	109	0.0092	476	c.784 others(491): Show c.784-577_784-576insGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C10orf90_chr10_126419997_126675693	126672434	G G	GCAGGACT others(469): Show GCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACC CCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCA GCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGG TCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAG GACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGA GACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTA CCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACTGGTCAT CAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACCAGGACT GGTCATCAGCTACCCCGAGACCAGGACTGGTCATCAGCTACCCCGAGACC AGGACTGGTCATCAGCTACCCCGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02071.hp2 HG02155.hp1 others(3): Show HG01978.hp2 HG02071.hp2 HG02155.hp1 HG03831.hp1 NA19002.hp1 NA19007.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0002c0004 others(2): Show a0001c0001 a0002c0003 a0002c0004 a0003c0002 a0004c0005	a0001c0001t0001 a0002c0003t0001 a0002c0004t0003 others(3): Show a0001c0001t0001 a0002c0003t0001 a0002c0004t0003 a0003c0002t0003 a0003c0002t0004 a0004c0005t0001	a0001c0001t0001g0089 a0002c0003t0001g0042 a0002c0004t0003g0126 others(3): Show a0001c0001t0001g0089 a0002c0003t0001g0042 a0002c0004t0003g0126 a0003c0002t0003g0137 a0003c0002t0004g0062 a0004c0005t0001g0133	6	104	0.0577	476	c.-19 others(487): Show c.-1955_-1954insGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCG GGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG GTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCA GTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGA TGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGT AGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCT CGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCC TGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCTGATGAC CAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTGGTCTCGGGGTAGCT GATGACCAGTCCTGGTCTCGGGGTAGCTGATGACCAGTCCTG	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding		1742		chr10	TogoVar
C17orf67_chr17_56786913_56838920	56792819	G G	GTGATAGT others(469): Show GTGATAGTGGTGGTGGTGGTGGGGATGGTGGTGTGGTGGTGGTGATGGTG GTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGGGGTGA TGGTGGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGA TGGTGATGGTGGTGGTGATGTGATGATGGTGGTGATGGTGGTGGTGATGG TGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATG GTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGGTGGTGAT GGTGATGATGATGGTGGTGATGGTAGTGGTGATGGTGATGATGGTGGTGA TGGTGATGATGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	229	0.0044	476	c.21 others(491): Show c.21-468_*21-467insTCACCACCATCACCACCATCATCACCATCA CCACCATCATCACCATCACCACTACCATCACCACCATCATCATCACCATC ACCACCACCACTACCATCACCACCATCATCACCATCACCACCACCACCAT CACCACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCA TCACCACCACCATCACCACCATCATCACATCACCACCACCATCACCATCA TCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCATCACCATCACCACCATCATCACCATCACCACCATCATCCACCATCA CCCCCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACC ACCACCACCATCACCACCATCATCACCATCACCACCACCATCACCACCAC CATCACCACCACCACACCACCATCCCCACCACCACCACCACTATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(469): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCT TCCCTCCTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA20752.hp2 HG01071.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0021 a0001c0001t0007g0022	2	100	0.0200	476	c.244 others(495): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGG AGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAA GGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN15_chr16_522712_559636	544693	C C	CCTCCCCC others(469): Show CCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCT CCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0221 a0001c0006t0001g0221	1	407	0.0025	476	c.-22 others(493): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(469): Show TCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GTCTCCCCCACGTCGTCGTCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCG CCTCCCCCCACGTCGCCGTCTCCCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	357	0.0028	476	c.-22 others(493): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGCCTCCCCCACGTCG TCGCCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGTCGTCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCGTCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544746	T T	TCGCCTCC others(469): Show TCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	357	0.0028	476	c.-22 others(493): Show c.-22-2069_-22-2068insCCTCCCCCACGTCGTCGTCTCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGT CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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