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
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(597): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCCACCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTT CCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	45	0.0222	604	c.22+ others(621): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCCACCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCC CCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIRT3_chr11_210030_241342	220919	T T	TACAGCAT others(597): Show TACAGCATTTACCCTTCAGGAGTACTTGCATGGGTAGATAAGGATGACAC ACAGGGATATTCACCGGAAGGCAAGTTCTCAGTATTTATCAGCATTTACC CTTCCAGAGTACTTGCATGGGTAGATAAGGATGATACACAGGGATATTCA CCACAGCATTTACCCTTCAGGAGTACTTGCATGGGTAGATAAGGATGACA CACAGGGATATTCACCGGAAGGCAAGTTCTCAGTATTTATCAGCATTTAC CCTTCCAGAGTACTTGCATGGGTAGATAAGGATGATACACAGGGATATTC ACTACAGCATTTACCCTTCAGGAGTACTTGCATGGGTAGATAAGGATGAC ACACAGGGATATTCACCGGAAGGCAAGTTCTCAGTATTTATCAGCATTTA CCCTTCAGGAGTACTTGCATGAGTAGATAAGGATGATACACAGGGATATT CACTACAGCATTTACCCTTCAGGAGTACTTGCATGGGTAGATAAGGATGA CACACAGGGATATTCACCGGAAGGCAAGTTCTCAGTATTTATCAGCATTT ACCCTTCCAGAGTACTTGCATGGGTAGATAAGGATGATACACAGGGATAT TCACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00673.hp2 others(35): Show HG00140.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01361.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18956.hp1 NA18974.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0011 a0003c0003t0017 a0003c0003t0001 a0003c0003t0011 a0003c0003t0017	a0003c0003t0001g0004 a0003c0003t0001g0021 a0003c0003t0001g0039 others(21): Show a0003c0003t0001g0004 a0003c0003t0001g0021 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0011g0038 a0003c0003t0017g0099	38	195	0.1949	604	c.970 others(621): Show c.970-1879_970-1878insGGTGAATATCCCTGTGTATCATCCTTAT CTACCCATGCAAGTACTCTGGAAGGGTAAATGCTGATAAATACTGAGAAC TTGCCTTCCGGTGAATATCCCTGTGTGTCATCCTTATCTACCCATGCAAG TACTCCTGAAGGGTAAATGCTGTAGTGAATATCCCTGTGTATCATCCTTA TCTACTCATGCAAGTACTCCTGAAGGGTAAATGCTGATAAATACTGAGAA CTTGCCTTCCGGTGAATATCCCTGTGTGTCATCCTTATCTACCCATGCAA GTACTCCTGAAGGGTAAATGCTGTAGTGAATATCCCTGTGTATCATCCTT ATCTACCCATGCAAGTACTCTGGAAGGGTAAATGCTGATAAATACTGAGA ACTTGCCTTCCGGTGAATATCCCTGTGTGTCATCCTTATCTACCCATGCA AGTACTCCTGAAGGGTAAATGCTGTGGTGAATATCCCTGTGTATCATCCT TATCTACCCATGCAAGTACTCTGGAAGGGTAAATGCTGATAAATACTGAG AACTTGCCTTCCGGTGAATATCCCTGTGTGTCATCCTTATCTACCCATGC AAGTACTCCTGAAGGGTAAATGCTGT	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(597): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGGCGCGCGGTGAGGGGGT GAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGG AGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCG GGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGGCGCGCGGGTGAAGAGT GAGGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGG AGCGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGG GCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0298 a0001c0001t0011g0298	1	283	0.0035	604	c.-12 others(615): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCCTCACACTT CACCCGCGCGCCCCTCACCCCTCACCCGCGCCTCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTC CCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCA CCCCTCACCCGCGCTCCCCTCACCCCCTCACCGCGCGCCCCCTCACCCCT CACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCG CGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCC CCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCAC CCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCA CCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCG CGCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(597): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCT GTCTCTGCCTCTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCT AGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCT GTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTCTCT CTCTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	160	0.0063	604	c.719 others(623): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTC TCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTG CCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCCCTCTCTGTCTC TGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTG TCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTC TCTCTCCGTCTCTCTCTGTCTCTCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(597): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATAT ATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATAT AAATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18939.hp1 NA19063.hp1 others(3): Show HG00673.hp1 NA18939.hp1 NA19063.hp1 NA19079.hp2 NA19088.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 others(3): Show a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045	6	246	0.0244	604	c.12+ others(619): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7724931	A A	AGTAGTGG others(597): Show AGTAGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATAGTGGTAGTGG TGGTGGTGATGGTGGTGATAGTGGTGGTGGTGATGGTGATGATGGTGATA GCAGTACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGTGGAGGT GGTAGTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGGTGGTGG TGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGATGGTGGTGATG ATGGTGGTGGTGGTGACAATGGTGGTGGTGATGGTGGTGATAGGGTGGTG GTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGGTGATGG TGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATGGTGATG GTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGTGGTAGT GGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGTTGGTGGGAATGG ATGGTGGTAGTAGTGGTGATGGTGGTGATGATGGTGATGGTGGTGATGGT GGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTGGTGATGA TGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0062 a0001c0033t0062	a0001c0033t0062g0160 a0001c0033t0062g0160	1	50	0.0200	604	c.261 others(621): Show c.2612-208_2612-207insATGGTGGTGGTGATGGTGATGATAGTGG TAGTGGTGGTGGTGATGGTGGTGATAGTGGTGGTGGTGATGGTGATGATG GTGATAGCAGTACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGT GGAGGTGGTAGTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGG TGGTGGTGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGATGGTG GTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGATGGTGGTGATAGG GTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGGTGATGG TGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTGAGGATG GTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGATGATGGT GGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGTTGGTGG GAATGGATGGTGGTAGTAGTGGTGATGGTGGTGATGATGGTGATGGTGGT GATGGTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGGTAGTGG TGATGATGGTGGTAGTGGTGATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(597): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGG AGTTGCCTGTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGAGGGGG GCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0153 a0001c0002t0005g0153	1	80	0.0125	604	c.64 others(615): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCTCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCC CGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(597): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGG AGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAG AACGGGGTGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGGGTGGGAGG GGTGGGAGAACGGGGTGGGGGTGGGAGGGGTGGGAGAACGGGGTGGGGGT GGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACGGGGTGAG AGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGAGG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCG GGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGG GTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGT GGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTG GGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGG AGAAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	4	0.2500	604	c.157 others(623): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCCGTT CCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCC CCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCC CACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCA CCCCGCTCCCACCCCGTTCCCCCACCCCGCCTCCTCCCCGTTCCCCCACC CCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCTC GCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCAC CCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCCCACCCCGTTC TCCCACCCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGC TCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCC GCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCA CCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(597): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACG GGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGG GTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAAC GGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGA GAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGA ACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGG GGGAGAGAGCGGGGTGGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGG AGAAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	4	0.2500	604	c.157 others(623): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCCACCCCGCTCTCTCCCCCGTTCCCCCACCCCGCTCTC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCC ACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCAC CCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCA CCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCC CACCCCGCTCTCACCCCGTTCTCCCACCCCCGCTCCCACCCCCACCCCGT TCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCA CCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(597): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG GTGGGGGTGGGAGGGGGTGGGAGAACGGGGGTGGGAGCGAGGTGGGAGAA CGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGG AGAACGGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGG GAACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGA ACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGG AGAAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	4	0.2500	604	c.157 others(623): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCCGTTCTCCCACCCCCTCCCACCCCCACCCCCGTTCTCCCACCCCTCCC ACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTC CCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGT TCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCA CCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(597): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACGGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGG AGAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0327	1	4	0.2500	604	c.157 others(623): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCT CCCACCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCC CCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCC CACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCA CCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCC ACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTC CCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGT TCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCA CCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(597): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGGAGCGAGGTGGGAGAAC GGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGGTGAGAGCGGGGTGGG AGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGG AACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAA CGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGG AGAAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	4	0.2500	604	c.157 others(623): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCT CCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCC CACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCA CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCC ACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCCA CCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCC ACCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTC CCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGT TCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCA CCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(597): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGGAGAACGGGGTGGGGGT GGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCG GGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACG GGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGG GTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAAC GGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGA GAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGG AACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAA CGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGG AGAAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	4	0.2500	604	c.157 others(623): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCCGCTCCCACCCCGTTCCCCCACCCCGCT CCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCC CACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCA CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCC ACCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCAC CCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCA CCCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCC CACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTT CTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCCA CCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TBC1D1_chr4_37886084_38144173	37893991	C C	CTTTTTTT others(597): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTATGGTGAAAAGATATATATATATATATATTCAGAATTAGG CAGCTGGACTCAGTTTAGATGATCCCAATTTTGTTGGCAACATCCAAAGC ATCGTAATCAGGAGCCAGTCGAACATATGCCTTCTTCTCTCCATCAGGCC GAATCAGGGTGTTGACCTTGGCCACATCAATGTCATACAGCTTCTTCACA GCCTGTTTAATCTGGTGCTTGTTGGCTTTAACATCCACAATGAACACAAG TGTGTTGTTGTCTTCTATCTTCTTCATGGCAGACTCAGTGGTCAGCGGAA ACTTGATGATAGCATAGTGGTCAAGCTTGTTTCTCCTGGGAGCGCTCTTC CGAGGATATTTGGGCTGTCTCCGGAGTCGCAGTGTCTTCGGCCGCCGGAA GGTGGGTGACGTGCGGATCTTCTTCTTTTTGTGGCTGTGGACACCTTTCA ACACTGCCTTCTTGGCCTTTAAAGCCTTCGCTTTGGCTTCAGCTTTAGGA GGGGCAGGAGCTTCCTTCTTCGCTTTCGGCGCCATCTTGTGAAAAGGGTC CGACT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	143	0.0070	604	c.-94 others(621): Show c.-94+2659_-94+2660insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTATGGTGAAAAGATATATATATATATATATTCAGAA TTAGGCAGCTGGACTCAGTTTAGATGATCCCAATTTTGTTGGCAACATCC AAAGCATCGTAATCAGGAGCCAGTCGAACATATGCCTTCTTCTCTCCATC AGGCCGAATCAGGGTGTTGACCTTGGCCACATCAATGTCATACAGCTTCT TCACAGCCTGTTTAATCTGGTGCTTGTTGGCTTTAACATCCACAATGAAC ACAAGTGTGTTGTTGTCTTCTATCTTCTTCATGGCAGACTCAGTGGTCAG CGGAAACTTGATGATAGCATAGTGGTCAAGCTTGTTTCTCCTGGGAGCGC TCTTCCGAGGATATTTGGGCTGTCTCCGGAGTCGCAGTGTCTTCGGCCGC CGGAAGGTGGGTGACGTGCGGATCTTCTTCTTTTTGTGGCTGTGGACACC TTTCAACACTGCCTTCTTGGCCTTTAAAGCCTTCGCTTTGGCTTCAGCTT TAGGAGGGGCAGGAGCTTCCTTCTTCGCTTTCGGCGCCATCTTGTGAAAA GGGTCCGACTTTTTTTTTTTTTTTTT	TBC1D1	ENSG00000065882.18	transcript	ENST00000698857.1	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
TCF3_chr19_1604292_1657615	1629046	A A	AGGCGGGA others(597): Show AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGAAAGGGGACAG CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACA GCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGAGGG TGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGA CAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGGGCGGGAAGGGGAC AGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0062 a0001c0002t0062	a0001c0002t0062g0176 a0001c0002t0062g0176	1	302	0.0033	604	c.299 others(621): Show c.299-1621_299-1620insCCACCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCCCACCCCGT GAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTGCTGTCCC CTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTTCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(597): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT CTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTCT CTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCT GTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01081.hp2 HG01192.hp2 others(2): Show HG00544.hp1 HG01081.hp2 HG01192.hp2 HG01952.hp1 NA19066.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0001 a0001c0001t0006 a0004c0010t0001 a0001c0001t0001 a0001c0001t0006 a0004c0010t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0037 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0006g0152 a0004c0010t0001g0104	5	162	0.0309	604	c.924 others(621): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM120B_chr12_121707752_121787068	121747530	G G	GGCTGGGG others(597): Show GGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGCGG GAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAG GTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGT GGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCA CTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGTCTGGGGTAGA AGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGG GAGGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	311	0.0032	604	c.189 others(619): Show c.189-782_189-781insTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGT AGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGTCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCGCTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747993	T T	TGGGAGGC others(597): Show TGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0098 a0002c0002t0098	a0002c0002t0098g0190 a0002c0002t0098g0190	1	216	0.0046	604	c.189 others(619): Show c.189-312_189-311insCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134609315	G G	GACAGACC others(597): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTG GTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACC CCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGA AAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGA GAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAG GATGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGGGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAG ACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGG TGAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	151	0.0066	604	c.323 others(623): Show c.323-57225_323-57224insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCCCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCATCCTTTTCACCAGTACAGTTCTC GGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTC ACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCA GTACAGTTCTCGGGGTCTGTCCTTTTCACCAGTACAGTTCTCGGGGTCTG TCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCT TTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(597): Show CTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCT CCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCTCCTCTC TCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCC CCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTC GCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTC CCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCT CCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTT CCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCCTC CCCCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0003 a0004c0014t0003	a0004c0014t0003g0042 a0004c0014t0003g0042	1	46	0.0217	604	c.-25 others(623): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCCTCCCC TCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT TCTCTGTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTC CTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCC CCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCC TCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTC CCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTC CCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCC CTCCCCTCCCCCTCCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(597): Show TTATATATATTATATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATAAAAATTATATATATTATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATAATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp1 HG00639.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	145	0.0138	604	c.28 others(615): Show c.2888_*2889insTATATATATTATATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATAAAAATTATATATATTATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATAATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(597): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATAAAAATTATATATATTATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATAATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTGT ATATATATAAAAATTATATATATATTGTATATATATAAAAATTATATATA TATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	72	0.0139	604	c.29 others(615): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATAAAAATTATATATATTA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATAATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTGTATATATATAAAAATTATATATATATTGTATATATA TAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(597): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATAATATATATATATAAAAATTATATATATATATTATATATATATAAA AATTATATATATATATTATATATATATAAAAATTATATATATATATTATA TATATATAAAAATTATATATATATATTATATATATATAAAAATTATATAT ATATATTATATATATATAAAAATTATATATATATATTATATATATATAAA AATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	115	0.0087	604	c.29 others(615): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATAATATATATATATAAAAATTATATATATATA TTATATATATATAAAAATTATATATATATATTATATATATATAAAAATTA TATATATATATTATATATATATAAAAATTATATATATATATTATATATAT ATAAAAATTATATATATATATTATATATATATAAAAATTATATATATATA TTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(597): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATATACTATATCATCATATGATATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0011 a0001c0001t0049g0011	1	125	0.0080	604	c.41- others(621): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATATAC TATATCATCATATGATATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(597): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATATACTATATCATCATATGATATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	125	0.0080	604	c.41- others(621): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATATACTATATCATCATATGATATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCC others(597): Show TTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCT TCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCC CCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTC TTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCT CCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCT TCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCT CTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTC CTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	8	0.1250	604	c.657 others(619): Show c.657+440_657+441insCCCTTCCTCCCTCCCCCCTTCCTCCCTCCC CCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCT TCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCC CCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTC CTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCT TCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCT TCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCC CTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCC CCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTC CTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50029095	A A	ATCCTGAA others(597): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACAC CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTA AAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCAC ACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	93	0.0108	604	c.225 others(623): Show c.2251+1334_2251+1335insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870145	T T	TACACACC others(597): Show TACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCATACACACCACACACCACACCCCACACACACCACACA CCCCACACACACCACACACCCCCCCACACCACACCCCATACACACCACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACACCCCCCACAC ACCACACCCCATACACACCACACACCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCCA CACACACCACACCCCACACACACCACACACCATACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACCACACCCCACACACA CCACACACCACACACACCACACCCCATACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCCCACACACCACAC CCCAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	249	0.0040	604	c.35 others(623): Show c.35+21439_*35+21440insCCCACACACACCACACCCCACACACA CCACACCCCATACACACCACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCCCCACACCACACCCCATACACACCACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACACCCCCCACACACCA CACCCCATACACACCACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCCCACACACCACACCCCACACA CACCACACCCCACACACACCACACACCATACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACCACACCCCACACACACCAC ACACCACACACACCACACCCCATACACACCACACCCCATACACACCACAC CCCACACACACCACACCCCACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCA CACACACCACACCCCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CAAACCAC others(597): Show CAAACCACACACCCCACACACACCACACACCCCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACACACCACACACCCCACACACACCACACCCCA CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACACCACACCCCATACACACCACACCCCACACACCCCCCACACACCACA CCCCATACACACCACACCCCACACACCCCCCACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCACACACA CCACA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	96	0.0104	604	c.35 others(623): Show c.35+21564_*35+21565insAAACCACACACCCCACACACACCACA CACCCCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCCCACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACACACCACA CACCCCACACACACCACACCCCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACACCACACCCCATACACACCACACC CCACACACCCCCCACACACCACACCCCATACACACCACACCCCACACACC CCCCACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CAAACCAC others(597): Show CAAACCACACACCCCACACACACCACACACCCCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCCCACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACACACCACACACCCCACACACACCACACCCCA CACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCA CACACCACACCCCATACACACCACACCCCACACACCCCCCACACACCACA CCCCATACACACCACACCCCACACACCCCCCACACACCACACCCCATACA CACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACA CCACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	96	0.0104	604	c.35 others(623): Show c.35+21564_*35+21565insAAACCACACACCCCACACACACCACA CACCCCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACCCCCCACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCATACACACCACACACACCACA CACCCCACACACACCACACCCCACACACCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACACCACACCCCATACACACCACACC CCACACACCCCCCACACACCACACCCCATACACACCACACCCCACACACC CCCCACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACCCCACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UMAD1_chr7_7635752_7884223	7679065	T T	TATAAATA others(597): Show TATAAATATATATTTATATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAAT ACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATT TATAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0115 a0001c0001t0066g0115	1	141	0.0071	604	c.82+ others(619): Show c.82+5617_82+5618insTATATATTTATATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATA TTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATAT TTATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679153	A A	AAATATAT others(597): Show AAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGT TTATAAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAAT ATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTT ACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAAT ACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGT TTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0239 a0001c0001t0022g0239	1	248	0.0040	604	c.82+ others(619): Show c.82+5700_82+5701insAATATATATTTATATATTTAGTTTATAAAT ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAAT ATATATTTATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTATTTAGTTTATAAATATTTACATATTTAGTTTATAAATATTTACAT ATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACAT ATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTT ACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACAT ATTTACATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAAT ATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3			chr7	TogoVar
VCX3A_chrX_6528618_6540118	6533250	T T	TCTTCCTC others(597): Show TCTTCCTCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCAC ACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCT CTTCCTCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCCCACACACCACCTCT TCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0008 a0008c0008t0001g0008	1	63	0.0159	604	c.49 others(613): Show c.494_*495insGGGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGAGGAAG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		367		chrX	TogoVar
VCX_chrX_7838171_7849143	7844261	G G	GGTGGTGT others(597): Show GGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG AAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0021 a0021	a0021c0028 a0021c0028	a0021c0028t0001 a0021c0028t0001	a0021c0028t0001g0001 a0021c0028t0001g0001	1	234	0.0043	604	c.24 others(613): Show c.245_*246insGTGGTGTGAGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAATAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		119		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(597): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	177	0.0056	604	c.53+ others(619): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGA TGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATG TATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(597): Show CATATATCATATACATCACATACATCACATATATCATATACATCACATAC ATCACATATATGATATATATATCATATACATCACATATATGATATATATA TCATATATATCACATATATGATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATCATATATATCACATATAT GATATATATATCATATATCACATATATGATATATATATCATATATCACAT ATATGATATATATCATATATCATATGATATATATCATATATATCACATAT ATGATATATATCATATGTGATATATATCATATATATCACATATATGATAT ATATCATATGTGATATATATCATATATATCACATATATGATATATATATG TGATATATATCATATATATCACATATATGATATATATCATATGTGATATA TATCATATATATCACATATATGATATATATCATATGTGATATATATCATA TATCACATATATGATATATATCATATGTGATATATATCATATATATCACA TATATGATATATATCATATGTGATATATATCATATATATCACATATATAT ATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	30	0.0333	604	c.-36 others(615): Show c.-3631_-3630insATATATCATATACATCACATACATCACATATATC ATATACATCACATACATCACATATATGATATATATATCATATACATCACA TATATGATATATATATCATATATATCACATATATGATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATCAT ATATATCACATATATGATATATATATCATATATCACATATATGATATATA TATCATATATCACATATATGATATATATCATATATCATATGATATATATC ATATATATCACATATATGATATATATCATATGTGATATATATCATATATA TCACATATATGATATATATCATATGTGATATATATCATATATATCACATA TATGATATATATATGTGATATATATCATATATATCACATATATGATATAT ATCATATGTGATATATATCATATATATCACATATATGATATATATCATAT GTGATATATATCATATATCACATATATGATATATATCATATGTGATATAT ATCATATATATCACATATATGATATATATCATATGTGATATATATCATAT ATATCACATATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ACSF3_chr16_89088852_89161233	89137254	T T	TGTGGGGA others(598): Show TGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGG AAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTG AGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAA GATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGG GGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCT CGTGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	366	0.0027	605	c.136 others(624): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGG AAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTG AGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAG GACTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGG GGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137259	G G	GGAAGGAC others(598): Show GGAAGGACTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGG AAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTG AGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAA GATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCGTGG GGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCT CGTGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0238 a0001c0001t0027g0238	1	366	0.0027	605	c.136 others(624): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAAGATTGAGGGG AAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTG AGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCGTGGAGAAG GACTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGG GGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137343	T T	TCGGGAGG others(598): Show TCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC GGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGA GCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAA AGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACG GGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGC TCGTGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTCACGGGGAAGGACTGAGGGGAAGAGCCCCGGGTCTCGGGAGGAC CACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGG AGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTC TCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCC AGGTCC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18970.hp2 NA19057.hp2 NA18939.hp2 NA18970.hp2 NA19057.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0295 a0001c0005t0001g0010 a0001c0005t0001g0295	3	344	0.0087	605	c.136 others(624): Show c.1366+4130_1366+4131insGGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGACTGAGGGG AAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTG AGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAG GATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGG GGAAAGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137366	C C	CGGGGAAG others(598): Show CGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAGGA GCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACCAC CAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGG ACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCG GGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGG TCTCGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTGAGGGGAAGAGCC CCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAA GAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAG GGGAAGAGCCCCGGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGA TTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGG AAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCA CGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGA GCTCGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0314 a0001c0005t0010g0314	1	361	0.0028	605	c.136 others(624): Show c.1366+4130_1366+4131insGGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCGTGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCGGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGG AAGAGCCCCGGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTG AGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAA GATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGG GGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCT CGTGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(598): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGT GTGGGGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTG TGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGT GTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGT GTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTG TGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGG GGGCTGTGTGTGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCT GTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	57	0.0175	605	c.62+ others(618): Show c.62+674_62+675insAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTG TGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGT GTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGT GTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTG TGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTG GGGGGCTGTGTGTGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGT GAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTG CGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGG GCTGTGTGTGGGGTGTGTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(598): Show CCGGGTTTTAAGTTTTCTTTCTTTTTTTTTTTTTTTTTGGTCAAAGTTGC CATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTCACA TGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTCATT TGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTGCAG ATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATAGGT AGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTTCGT GAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTGATA CAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGAATC ACAGTGTTATATTTATTTCCACATATTCTATGTTAATAATATAATTTTTA ATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATGCAG CTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAGCTT TTATATTTAGATTTAAATATTTCAGTTGCTTTTTTTTTTTTTTTTTTTTT TACTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0135 a0001c0002t0008g0135	1	250	0.0040	605	c.122 others(622): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAG CAACTGAAATATTTAAATCTAAATATAAAAGCTATTTTTAAATGGCTGAA ATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACTTATAGCAGTTA TTGAATGAAAACTTAAAATACATGGAATTAAAAATTATATTATTAACATA GAATATGTGGAAATAAATATAACACTGTGATTCACAGAACTGGCTGTACT ATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTTCTTAGTCTGTA AGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGGAGATAATGCTC TCCTCTGATCACACAGTTGTTACTTACTACCTATGTGACCTTTGGTAAAG TATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATGGGAATAATCATG TATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATGCATTTATATTA ATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAAACATATGTATT TATTTTTAATGATAATAAACAATTAATGGCAACTTTGACCAAAAAAAAAA AAAAAAAGAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(598): Show CCGGGTTTTAAGTTTTCTTTCTTTTTTTTTTTTTTTTTGGTGAAAGTTGC CATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTCACA TGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTCATT TGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTGCAG ATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATAGGT AGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTTCGT GAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTGATA CAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGAATC ACAGTGTTATATTTATTTCCACATATTCTATGTTAATAATATAATTTTTA ATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATGCAG CTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAGCTT TTATATTTAGATTTAAATATTTCAGTTGCTTTTTTTTTTTTTTTTTTTTT TACTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02280.hp2 HG02886.hp1 others(3): Show HG01099.hp1 HG02280.hp2 HG02886.hp1 NA18522.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 others(3): Show a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0083 a0001c0002t0002g0086 a0001c0002t0002g0087	6	255	0.0235	605	c.122 others(622): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAG CAACTGAAATATTTAAATCTAAATATAAAAGCTATTTTTAAATGGCTGAA ATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACTTATAGCAGTTA TTGAATGAAAACTTAAAATACATGGAATTAAAAATTATATTATTAACATA GAATATGTGGAAATAAATATAACACTGTGATTCACAGAACTGGCTGTACT ATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTTCTTAGTCTGTA AGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGGAGATAATGCTC TCCTCTGATCACACAGTTGTTACTTACTACCTATGTGACCTTTGGTAAAG TATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATGGGAATAATCATG TATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATGCATTTATATTA ATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAAACATATGTATT TATTTTTAATGATAATAAACAATTAATGGCAACTTTCACCAAAAAAAAAA AAAAAAAGAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ARHGEF3_chr3_56722420_56806949	56731592	C C	CCGGGTTT others(598): Show CCGGGTTTTAAGTTTTCTTTTTTTTTTTTTTTTTTTTTGGTGAAAGTTGC CATTAATTGTTTATTATCATTAAAAATAAATACATATGTTTCACTTCACA TGTGTTACACAGGTGCTTAATATTTTATTAATATAAATGCATAATTCATT TGCTCTTCACAACCACAAAAACTAGATACATGATTATTCCCATTTTGCAG ATAAGGAAACTAACACCCAAGTGAAATACTTTACCAAAGGTCACATAGGT AGTAAGTAACAACTGTGTGATCAGAGGAGAGCATTATCTCCAAACTTCGT GAGAGACACATATAAGCAATTAGTCCCTTACAGACTAAGAAATTTTGATA CAGACAATTTGTTGCAGATTCATAAGATAGTACAGCCAGTTCTGTGAATC ACAGTGTTATATTTATTTCCACATATTCTATGTTAATAATATAATTTTTA ATTCCATGTATTTTAAGTTTTCATTCAATAACTGCTATAAGTATATGCAG CTCTGAGAACAAGGGGGAAGAGAATAATTTCAGCCATTTAAAAATAGCTT TTATATTTAGATTTAAATATTTCAGTTGCTTTTTTTTTTTTTTTTTTTTT TACTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG02027.hp1 others(22): Show HG00621.hp1 HG00673.hp1 HG02027.hp1 HG02080.hp1 HG02080.hp2 HG02683.hp2 HG02735.hp2 HG03239.hp2 HG03486.hp1 HG04184.hp1 HG04228.hp1 NA18947.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA19001.hp2 NA19007.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19085.hp1 NA19087.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0006 a0005c0015 a0001c0002 a0001c0006 a0005c0015	a0001c0002t0002 a0001c0006t0002 a0005c0015t0002 a0001c0002t0002 a0001c0006t0002 a0005c0015t0002	a0001c0002t0002g0005 a0001c0002t0002g0023 a0001c0002t0002g0032 others(21): Show a0001c0002t0002g0005 a0001c0002t0002g0023 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0131 a0001c0002t0002g0138 a0001c0002t0002g0157 a0001c0002t0002g0165 a0001c0002t0002g0178 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0190 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0252 a0001c0006t0002g0312 a0001c0006t0002g0325 a0001c0006t0002g0326 a0005c0015t0002g0347	25	274	0.0912	605	c.122 others(622): Show c.1228+645_1228+646insAAAGTAAAAAAAAAAAAAAAAAAAAAAG CAACTGAAATATTTAAATCTAAATATAAAAGCTATTTTTAAATGGCTGAA ATTATTCTCTTCCCCCTTGTTCTCAGAGCTGCATATACTTATAGCAGTTA TTGAATGAAAACTTAAAATACATGGAATTAAAAATTATATTATTAACATA GAATATGTGGAAATAAATATAACACTGTGATTCACAGAACTGGCTGTACT ATCTTATGAATCTGCAACAAATTGTCTGTATCAAAATTTCTTAGTCTGTA AGGGACTAATTGCTTATATGTGTCTCTCACGAAGTTTGGAGATAATGCTC TCCTCTGATCACACAGTTGTTACTTACTACCTATGTGACCTTTGGTAAAG TATTTCACTTGGGTGTTAGTTTCCTTATCTGCAAAATGGGAATAATCATG TATCTAGTTTTTGTGGTTGTGAAGAGCAAATGAATTATGCATTTATATTA ATAAAATATTAAGCACCTGTGTAACACATGTGAAGTGAAACATATGTATT TATTTTTAATGATAATAAACAATTAATGGCAACTTTCACCAAAAAAAAAA AAAAAAAAAAAGAAAACTTAAAACCCG	ARHGEF3	ENSG00000163947.12	transcript	ENST00000296315.8	protein_coding	9/9			chr3	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(598): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAG TGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCGGGGGGCTGACCCCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCT CCCTCCCAGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01515.hp1 others(6): Show HG00639.hp2 HG01243.hp1 HG01515.hp1 HG02698.hp1 HG03239.hp2 HG04199.hp2 NA19010.hp1 NA19065.hp1 NA19066.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0022 a0006c0020 a0001c0002 a0001c0022 a0006c0020	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0022t0001 a0006c0020t0001	a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0057 others(6): Show a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0002g0060 a0001c0002t0003g0022 a0001c0002t0003g0041 a0001c0002t0003g0068 a0001c0022t0001g0020 a0006c0020t0001g0039	9	21	0.4286	605	c.204 others(626): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTC CGGGAGGCAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAG CCCCCCACCCGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCC CAGCCGCCCCTACTGGGAAGTGAGGAGCCACACTGCCCGGCCAGCCGCCC TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(598): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGGGGCTGGCCGGGCAG AGTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC TTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCGCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCA GGCGGGGGGCTGACCCCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCT CCCTCCCAGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCC GGGCGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG02809.hp2 HG01081.hp1 HG01891.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0016 a0001c0001t0001 a0001c0001t0009 a0001c0001t0016	a0001c0001t0001g0015 a0001c0001t0009g0086 a0001c0001t0016g0075 a0001c0001t0001g0015 a0001c0001t0009g0086 a0001c0001t0016g0075	3	15	0.2000	605	c.204 others(626): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTC CGGGAGGCAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGCGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCC CAGCCGCCCCTACTGGGAAGTGAGGAGCCACTCTGCCCGGCCAGCCCCCC TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(598): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGC CCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	223	0.0045	605	c.36 others(616): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
C1QTNF12_chr1_1237453_1251722	1249495	T T	TGGACCGA others(598): Show TGGACCGAGGGAGGCTGGGCCTCCCCACTCCGCCCTACAGGCCGGGACAA CGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGC CCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCT GGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGC TGGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCCTACAGGCCGGGACA ACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCG CCCTACAGGCCGGGACACGGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACAACGGGCAGCCCTGGGA GGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGAC ACGGGCAGCCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACACGGGCAGCCCTGGG AGGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	326	0.0031	605	c.-28 others(616): Show c.-2806_-2805insCAGCCTCCCAGGGCTGCCCGTGTGTCCCGGCCTG TAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTG CCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTC CAGCCTCCCAGGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCTG TAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTG CCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCTGTAGGGGCGGAGTGGGA GGCCCAGCCTCCCTCGGTCCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCC TGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGC TGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGG TCCAGCCTCCCAGGGCTGCCCGTTGTCCCGGCCTGTAGGGCGGAGTGGGG AGGCCCAGCCTCCCTCGGTCC	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2774		chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88951075	C C	CTCGCCTG others(598): Show CTCGCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCT TCCGGGTCAGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAG GAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGGC ACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCAC CCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGT CTTCCGGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGGTC AGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCCTCGCCTGGACCGG CACCGGCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGGTCAGTTCA CCCGTCCCCTGGACCGGCACCGCCACAGAGGGTCAGGAGTGTTGGCACCT GTCTTCCGGATCTGTTCACCCGTCCCCTGGACCGGCACCGCCACAGAGGG TCAGAGTGTTGGCACCTGTCTTCCGGATCTGTTCACCCGTCCCCTGGACC GGCACCGCCACAGAGGGTCAGAGTGTTGGCACCTGTCTTCCGGATCTGTT CACCCG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19005.hp2 NA19088.hp1 NA19004.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0246 a0001c0003t0004g0232 a0001c0003t0004g0233 a0001c0003t0001g0246 a0001c0003t0004g0232 a0001c0003t0004g0233	3	235	0.0128	605	c.151 others(624): Show c.151+25581_151+25582insCGGGTGAACAGATCCGGAAGACAGGT GCCAACACTCTGACCCTCTGTGGCGGTGCCGGTCCAGGGGACGGGTGAAC AGATCCGGAAGACAGGTGCCAACACTCTGACCCTCTGTGGCGGTGCCGGT CCAGGGGACGGGTGAACAGATCCGGAAGACAGGTGCCAACACTCCTGACC CTCTGTGGCGGTGCCGGTCCAGGGGACGGGTGAACTGACCCGGAAGACAG GTGCCAACACTCTGACCCTCTGTGCCGGTGCCGGTCCAGGCGAGGGGTGA ACAGATCCGGAAGACAGGTGCCAACACTCTGACCCTCTGTGGCGGTGCCG GTCCAGGGGACGGGTGAACAGATCCGGAAGACAGGTGCCAACACTCTGAC CCTCTGTGGCGGTGCCGGTCCAGGGGACGGGTGAACAGATCCGGAAGACA GGTGCCAACACTCTGACCCTCTGTGGCGGTGCCGGTCCAGGGGACGGGTG AACAGATCCGGAAGACAGGTGCCAACACTCCTGACCCTCTGTGGCGGTGC CGGTCCAGGGGACGGGTGAACTGACCCGGAAGACAGGTGCCAACACTCTG ACCCTCTGTGGCGGTGCCGGTCCAGGCGA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGGCC others(598): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCC	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18963.hp1 HG02027.hp2 NA18963.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0037 a0003c0003t0002g0037	2	148	0.0135	605	c.666 others(620): Show c.666+500_666+501insGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar

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