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
TERT_chr5_1248167_1300068	1273064	G G	GCCATCCA others(494): Show GCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACAACCGC CATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACAACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACAACCG CCATCCACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCA CA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	348	0.0029	501	c.228 others(518): Show c.2287-785_2287-784insTGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTG GGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGT GGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THNSL2_chr2_88165346_88191627	88181443	C C	CCTCTCTC others(494): Show CCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTC TCTCTCTCCTCTCTCTCCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCTCCTCTCCTCTCTCTCTCTCTCCTCTCTCTCATCCTCTCCTCTCCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCT CTCCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCCCCTCTCTCTCCTCTCC TCTCTCCTCTCTCTCCTCTCTCTGTCCTCTCTCTCTCCTCTCTCCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCCTCTCTCTCTCCC CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTTCTCTCTC CT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0047 a0009c0007t0002g0047	1	50	0.0200	501	c.803 others(518): Show c.803-1249_803-1248insTCTCCTCTCTCTTCTCTCTCTCCTCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCC TCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTC TCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCTCCTCTCCTCTCTCTCTCTCTCCTCTCTCTCAT CCTCTCCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCC TCTCTCTCTCCTCTCTCCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCCCC TCTCTCTCCTCTCCTCTCTCCTCTCTCTCCTCTCTCTGTCCTCTCTCTCT CCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CCTCTCTCTCTCCCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCCTCTTCTCTCTCCTCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693729	A A	ACCACCTC others(494): Show ACCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCTCCACCTC CACCACCTCCACCACCACCCCTCCACCACCACCACCACCACCACCTTCAC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCA CCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACCACCTCCAC CACCACCACCACCTCCACCTCCACCACCACCACCCACCTCCTCCACCACC TCCACCTCCACCACCTCCACCACCACCACCACCACCACCACCACCTCCAC CACCACCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCTCCA CCTCCACCACCTCCACCTCCACCACCTCCACCACCACACCACCACCACCT CCACCACCACCACCTCCACCACCACCACCACCTCCACCCACCACCTCCAA CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	19	0.0526	501	c.-30 others(512): Show c.-3039_-3038insCCACCTCCACCTCCACCACCACCACCTCCACCTC CACCACCTCCACCTCCACCACCTCCACCACCACCCCTCCACCACCACCAC CACCACCACCTTCACCACCACCACCTCCACCACCACCACCTCCACCACCA CCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACC TCCACCACCACCACCACCTCCACCACCACCACCTCCACCACCTCCACCAC CACCACCACCTCCACCACCACCACCACCTCCACCTCCACCACCACCACCC ACCTCCTCCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCAC CACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCTCCA CCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACC ACACCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCC ACCCACCACCTCCAACT	TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding		2922		chr20	TogoVar
TREH_chr11_118652316_118684650	118682986	G G	GCCTTGGC others(494): Show GCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCGCCCG GCCTAAACATCTTTTTTTATTGCAAGGTTTTTTACTGCCATCTCTTTACT TGTCACACCTATTGAGACTTTTTACTTCTTGCATCAGTTTAGATAATTTC TGTTTCTAGGAATTTTTCTGTTTCATCTAGGTTATCTAATTTGTTGGCAT ATACTTGTTTATAGTATTCTATTTTCAATTTTGTAAGGTTGATAGTAGTG CCTCTGCACTCATTCTGATTTTATGTGTGTCTTCTCTGTCAATTTTATTG ATCTTTTCATAGGACCAACTTTTGGTCACTCAGCTCACTGCGACCTCTGC CTCCTGAGTAGCTGGGCTTACTTATTAGTAAGGGCTTACTTACTTATTAG CCTGCCATCACACCAGGCTAATTTTTTGTATTTTAGTAGAGACGAGGTTT CATCATGTTACCCAGGGTGGTCTTGAACTCCTGAGCTCAGGCAATCCACC CA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(136): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19075.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0011 a0015	a0001c0001 a0001c0012 a0001c0019 others(10): Show a0001c0001 a0001c0012 a0001c0019 a0001c0020 a0002c0002 a0002c0022 a0003c0003 a0005c0007 a0006c0010 a0007c0008 a0009c0013 a0011c0017 a0015c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0012t0008 a0001c0019t0002 a0001c0020t0002 a0002c0002t0002 a0002c0002t0011 a0002c0022t0002 a0003c0003t0003 a0005c0007t0002 a0006c0010t0001 a0007c0008t0001 a0009c0013t0002 a0011c0017t0002 a0015c0018t0001	a0001c0001t0001g0053 a0001c0001t0001g0180 a0001c0001t0002g0009 others(67): Show a0001c0001t0001g0053 a0001c0001t0001g0180 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0051 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0175 a0001c0001t0002g0190 a0001c0001t0004g0005 a0001c0001t0004g0026 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0012t0008g0187 a0001c0012t0008g0189 a0001c0019t0002g0188 a0001c0020t0002g0155 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0028 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0148 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0011g0166 a0002c0022t0002g0171 a0003c0003t0003g0163 a0005c0007t0002g0025 a0005c0007t0002g0143 a0006c0010t0001g0135 a0006c0010t0001g0138 a0006c0010t0001g0181 a0007c0008t0001g0177 a0007c0008t0001g0178 a0007c0008t0001g0179 a0009c0013t0002g0052 a0011c0017t0002g0141 a0015c0018t0001g0176	139	389	0.3573	501	c.-33 others(512): Show c.-3360_-3359insTGGGTGGATTGCCTGAGCTCAGGAGTTCAAGACC ACCCTGGGTAACATGATGAAACCTCGTCTCTACTAAAATACAAAAAATTA GCCTGGTGTGATGGCAGGCTAATAAGTAAGTAAGCCCTTACTAATAAGTA AGCCCAGCTACTCAGGAGGCAGAGGTCGCAGTGAGCTGAGTGACCAAAAG TTGGTCCTATGAAAAGATCAATAAAATTGACAGAGAAGACACACATAAAA TCAGAATGAGTGCAGAGGCACTACTATCAACCTTACAAAATTGAAAATAG AATACTATAAACAAGTATATGCCAACAAATTAGATAACCTAGATGAAACA GAAAAATTCCTAGAAACAGAAATTATCTAAACTGATGCAAGAAGTAAAAA GTCTCAATAGGTGTGACAAGTAAAGAGATGGCAGTAAAAAACCTTGCAAT AAAAAAAGATGTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCTAGC ACTTTGGGAGGCCAAGG	TREH	ENSG00000118094.12	transcript	ENST00000264029.9	protein_coding		3337		chr11	TogoVar
TTLL10_chr1_1168880_1202936	1201794	G G	GAGCCCAG others(494): Show GAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACC CAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCC CAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCC CCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAG CCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAG CCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAG TACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCC AGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCCGAGCCC AGTACCCAGCCCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCC CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0290 a0003c0006t0003g0290	1	320	0.0031	501	c.39 others(512): Show c.3947_*3948insAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGC CTCCAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCCCGAGCCCAGTACCCA GCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCA GTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCC GAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC CCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCGGAG CCCAGTACCCAGCCCCC	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding		3859		chr1	TogoVar
TUBGCP5_chr15_22994177_23044569	23042843	G G	GGGATATC others(494): Show GGGATATCATAACCTCACCTGGCCAGAGGTGCTGGGGGTGGGTATTATAT CCCCACCTGGCCAGAGGTGCTGGGGGGGGACGTCATAACCACACTTGGCC AGAGGTGCCGGTGGGACTTCATAACCCCACCTGGCCAGAGGTGCCGGGGG GACTTCATAACCACACCTGGCCAGAGGTGCCGGGGGGACATCATAACCAC ACCTGGCCAGAGGTGCCGGGGGGACAACATAACCACACCTGGCCAGAGGT GCCCGGAGGACTTCATAACCACACCTGGCCAGAGGTGCCGGGAGGACTTC ATAACCACACCTGGCCAGAGGTGCCGGGCGGACTTCATAACCCCACCTGG CCAGAGGTGCCGGGGGGACTTCATAACCCCACGTGGCCAGAGGTGCCGGG AGGACTTCATAACCACACCTGGCCAGAGGTACCGGGGGGACATCATAACC ACACCTGGCCAGAGGTGCCGGTGGGACTTCATAACCCCACCTGGCCAGAG GT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA19060.hp1 NA19081.hp2 NA18952.hp1 NA19060.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	3	342	0.0088	501	c.-33 others(512): Show c.-3301_-3300insACCTCTGGCCAGGTGGGGTTATGAAGTCCCACCG GCACCTCTGGCCAGGTGTGGTTATGATGTCCCCCCGGTACCTCTGGCCAG GTGTGGTTATGAAGTCCTCCCGGCACCTCTGGCCACGTGGGGTTATGAAG TCCCCCCGGCACCTCTGGCCAGGTGGGGTTATGAAGTCCGCCCGGCACCT CTGGCCAGGTGTGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGGTGTGG TTATGAAGTCCTCCGGGCACCTCTGGCCAGGTGTGGTTATGTTGTCCCCC CGGCACCTCTGGCCAGGTGTGGTTATGATGTCCCCCCGGCACCTCTGGCC AGGTGTGGTTATGAAGTCCCCCCGGCACCTCTGGCCAGGTGGGGTTATGA AGTCCCACCGGCACCTCTGGCCAAGTGTGGTTATGACGTCCCCCCCCAGC ACCTCTGGCCAGGTGGGGATATAATACCCACCCCCAGCACCTCTGGCCAG GTGAGGTTATGATATCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3275		chr15	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(494): Show TGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG AG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	209	0.0048	501	c.79 others(510): Show c.797_*798insGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTG TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(494): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCC CTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCC CCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCT CCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCC TC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	33	0.0303	501	c.53- others(514): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCTCCTCC TCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCC CTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCT CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCT TCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZFPM1_chr16_88448280_88542031	88501156	A A	ATGATGGA others(494): Show ATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGT GATGGAGATAGCGGTCATGGATGCGGGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGATGCGGGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCGGTCATGGATGCGTGGGCCATCCCGCAGGTGCTGGT GATGATGGAGATAGCGGTCATGGATGCGGGGCCCTCCCGCAGGTGCTGGT GATGATGGAGATAGTGGGCCTGGGTGCGGGGCCCTCCCGCAGGTGCTGGT GATGATGGAGATAGCGGTCATGGATGCGTGGGCCCTCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTG GTGATGGAGATAGCGGTCATGGATGCGGGGGCCCTCCCGCAGGTGCTGGT GG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00738.hp2 others(1): Show HG00558.hp1 HG00621.hp2 HG00738.hp2 HG02738.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0015	a0001c0001 a0002c0011 a0008c0041 others(1): Show a0001c0001 a0002c0011 a0008c0041 a0015c0045	a0001c0001t0004 a0002c0011t0007 a0008c0041t0050 others(1): Show a0001c0001t0004 a0002c0011t0007 a0008c0041t0050 a0015c0045t0007	a0001c0001t0004g0187 a0002c0011t0007g0015 a0008c0041t0050g0155 others(1): Show a0001c0001t0004g0187 a0002c0011t0007g0015 a0008c0041t0050g0155 a0015c0045t0007g0084	4	316	0.0127	501	c.268 others(520): Show c.268+12029_268+12030insTGGGCCATCCCGCAGGTGCTGGTGAT GGAGATAGCGGTCATGGATGCGGGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGATGCGGGGGCCCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCGGTCATGGATGCGTGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCGGTCATGGATGCGGGGCCCTCCCGCAGGTGCTGGTGAT GATGGAGATAGTGGGCCTGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGAT GATGGAGATAGCGGTCATGGATGCGTGGGCCCTCCCGCAGGTGCTGGTGA TGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTG ATGGAGATAGCGGTCATGGATGCGGGGGCCCTCCCGCAGGTGCTGGTGGT GATGGAGATAGCAGACATGGGTGCG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(495): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0230 a0001c0003t0004g0230	1	209	0.0048	502	c.49- others(517): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ACR_chr22_50733204_50750339	50748482	A A	ATCCGAGG others(495): Show ATCCGAGGGGTGTGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGAC ATCCGAGGGGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGA CATCCGAGGGGTGTGCCCACCTAGACAACCGAGGAGTGTGCCCACCTAGA CAACCGAGGGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGA CATCCGAGGAGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAG ACATCCGAGGGGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTA GACATCCGAGGGGTGTGCCCACCTAGACAACCGAGGAGTGTGCCCACCTA GACAACCGAGGGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTA GACATCCGAGGGGTGTGCCCACCTAGACAACCAAGGGGTGTGCCCACCTA GACATCCGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTA GAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA19005.hp2 NA19070.hp1 NA18957.hp1 NA19005.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 a0001c0001 a0001c0015 a0002c0002	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0001c0001t0001 a0001c0015t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0015t0001g0004 a0002c0002t0001g0004 a0001c0001t0001g0004 a0001c0015t0001g0004 a0002c0002t0001g0004	3	350	0.0086	502	c.32 others(513): Show c.3275_*3276insTCCGAGGGGTGTGCCCACCTAGACATCCGAGGAG TGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAATCTGAGGG GTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCGAGGA GTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGACAACCGAGGG GTGTGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGACAATCTGAGG GGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAATCTGAG GGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCGAG GAGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGACAACCGAG GGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCAAG GGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACATCCGAG GGGTGTGCCCACCTAGAC	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3144		chr22	TogoVar
ACR_chr22_50733204_50750339	50748482	A A	ATCCGAGG others(495): Show ATCCGAGGGGTGTGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGAC ATCCGAGGGGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGA CATCCGAGGGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGA CAACCGAGGAGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGA CAACCGAGGGGTGTGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGA CAATCTGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAG ACAATCTGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTA GACAACCGAGGAGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTA GACAACCGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTA GACAACCGAGGGGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTA GAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	348	0.0029	502	c.32 others(513): Show c.3275_*3276insTCCGAGGGGTGTGCCCACCTAGACATCCGAGGAG TGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAATCTGAGGG GTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCGAGGG GTGTGCCCACCTAGACAACCGAGGAGTGTGCCCACCTAGACAACCGAGGG GTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGACATCCGAGGA GTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGACATCCGAGG GGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGACATCCGAG GGGTGTGCCCACCTAGACAACCGAGGAGTGTGCCCACCTAGACAACCGAG GGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGACATCCGAG GGGTGTGCCCACCTAGACAACCGAGGGGTGTGCCCACCTAGACATCCGAG GGGTGTGCCCACCTAGAC	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3144		chr22	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(495): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGG AAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0154 a0002c0001t0005g0154	1	25	0.0400	502	c.259 others(523): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCT CCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCC CTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTC CTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(495): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CACCCATTCATCCATTCACCCACCCATCCACTCATCCATCCACCCATCCA TTCATCCATTCACCCACCCATTTACCTACCCATTAATTCACCCACCCTTC CACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCCAT TCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCACC CATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATCCACTCA TCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0073 a0002c0039t0073	a0002c0039t0073g0059 a0002c0039t0073g0059	1	7	0.1429	502	c.775 others(517): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGATGG GTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAAT GGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGG GTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATAT GGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGA TAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAATGG ATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(495): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGAGGAGGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGG AGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGA GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGG AGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGG GGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0068 a0001c0001t0043g0068	1	183	0.0055	502	c.125 others(523): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCC CCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCC TCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCA CCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(495): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GAGGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGG AGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGA GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGG AGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGG GGA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0172 a0001c0001t0008g0172	1	183	0.0055	502	c.125 others(523): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCC CCCTCCCCCCCCCTCCTCCCCCCCCCCTCCTCCTCCCCCCCTCCCCCTCC CCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCC TCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCA CCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(495): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAGGGGGGGGGAGGGGGGGAG GAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAGGA GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGG AGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGG GGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0197	1	183	0.0055	502	c.125 others(523): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCC TCCCCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCTCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCCCCCCCCTC CTCCCCCCCTCCTCCTCCCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCC TCCCCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCC TCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCA CCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(495): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTATATATATATATAAACTAT ATATATAGTATATATATATAAACTATATATATAGTTTATATATATATACT ATATATATAGTTTATATATATATATATACTATATATATAGTTTATATATA TATATACTATATATATAGTTTATATATATATACTATATATATAGTTTATA TATATATATACTATATATATAGTTTATATATATATATACTATATATATAG TTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	164	0.0061	502	c.331 others(521): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAACTATATATATAGTATATATATATATAAACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATATATAAACTATATATATAGT ATATATATATATATAAACTATATATATAGTATATATATATAAACTATATA TATAGTTTATATATATATACTATATATATAGTTTATATATATATATACTA TATATATAGTATATATATATAAACTATATATATAGTATATATATATAAAC TATATATATAGTATATATATAAACTATATATATAGTATATATATAAACTA TATATATAGTATATATATATAAACTATATATATAGTATATATATAGTATA TATATACTATATATAGTATATATATATAAACTATATATAGTATATATATA TAAACTATATATATAGTATATATAAACTATATATATAGTATATATATATA AACTATATATATATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(495): Show ATATATATAGTTTATATATATATAGTTTATATATATATACTATATATATA GTTTATATATACTATATATATAGTTTATATATATATACTATATATAGTTT ATATATATATACTATATATAGTATATATATACTATATATATACTATATAT ATAGTTTATATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATACTATATATATAGTTTATATATATATACTATATAT ATAGTTTATATATATATATACTATATATATAGTATATATATATATAAACT ATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATA TATACTATATATATAGTTTATATATATATATATACTATATATATAGTTTA TATATATATACTATATATATAGTTTATATATATATACTATATATATAGTT TATATATATATACTATATATATTTTATATATATATATACTATATATATAG TTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03486.hp2 HG02145.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0245 a0001c0001t0001g0247	2	165	0.0121	502	c.331 others(521): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAAATATATATAGTATATATATATAAACTATATATATAGTATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTTTATATATATATAAACTATATATATAGTTTATATATATATATACTATA TATATAGTATATATATATATAAACTATATATATAGTATATATATATAAAC TATATATATAGTATATATATAAACTATATATATAGTATATATATAAACTA TATATATAGTATATATATATAAACTATATATATAGTATATATATAGTATA TATATACTATATATAGTATATATATATAAACTATATATAGTATATATATA TAAACTATATATATAGTATATATAAACTATATATATAGTATATATATATA AACTATATATATATAAACTATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
C20orf96_chr20_265863_295750	279097	A A	AGGGAGGG others(495): Show AGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAG GGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGG AGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAG GGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAG GGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGA GGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACG GAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAG GGC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0113 a0002c0012t0001g0113	1	342	0.0029	502	c.465 others(515): Show c.465+74_465+75insGCCCTCCCTCCCTCCATCCCTCCCGCCCTCCC TCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCC CTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGC CCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTC CCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCC GCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTC CCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC TCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(495): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTG GGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGTTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0031 a0031	a0031c0042 a0031c0042	a0031c0042t0001 a0031c0042t0001	a0031c0042t0001g0300 a0031c0042t0001g0300	1	214	0.0047	502	c.144 others(519): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(495): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCTCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGG GGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0176 a0011c0011t0001g0176	1	214	0.0047	502	c.144 others(519): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCTCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(495): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCGGCTGGCCGACCCCCCCCCCCTCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTGG GGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0045 a0003c0045	a0003c0045t0001 a0003c0045t0001	a0003c0045t0001g0198 a0003c0045t0001g0198	1	214	0.0047	502	c.144 others(519): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCTCC CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(495): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC GGACAGGGCGGCTGGCCGACCCCCCCCCCCTCCCCCCGCCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGTG GGGCTGATCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0153 a0003c0003t0001g0153	1	214	0.0047	502	c.144 others(519): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCTC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGTGGGGCTGATCCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(495): Show ACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGT CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCT CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0379 a0001c0004t0003g0379	1	356	0.0028	502	c.-22 others(519): Show c.-22-2076_-22-2075insTCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCTCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGT CGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCTCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC TCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTC GCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(495): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATAT ATACATATATACGTATGTATGTGTATATATACATATATACGTATGTATGT GTATATATACATATATACGTATGTATGTGTATATATACATATATACGTAT GTATGTGTATATATACATATATACGTATGTATGTGTATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTAT ATATACATATATACGTATGTATGTGTATATATACATATATACGTATGTAT GTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18945.hp2 NA18986.hp1 others(1): Show HG01975.hp1 NA18945.hp2 NA18986.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0241 a0001c0001t0012g0281 a0001c0001t0012g0300 others(1): Show a0001c0001t0001g0241 a0001c0001t0012g0281 a0001c0001t0012g0300 a0001c0001t0012g0304	4	126	0.0317	502	c.273 others(519): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATATACACATACATA CGTATATATGTATATATACACATACATACGTATATATGTATATATACACA TACATACGTATATATGTATATATACACATACATACGTATATATGTATATA TACACATACATACGTATATATGTATATATACACATACATACGTATATATG TATATATACACATACATACGTATATATGTATATATACACATACATACGTA TATATGTATATATACACATACATACGTATATATGTATATATACACATACA TACGTATATATGTATATATACACATACATACGTATATATGTATATATACA CATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293537	G G	GGCCTACC others(495): Show GGCCTACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTT CCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTT CCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAG CTCACCTTCCCATCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCACC TGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTG CCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCA CCTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCC ACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	237	0.0042	502	c.411 others(519): Show c.4112+635_4112+636insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGA AGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTGGGCCG TGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAG GTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGG GCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGC AGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGT GGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGG GCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGC AGGTGAGGGGGCAGGAAGGTAGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(495): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCGCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTCCCC TCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0187 a0001c0001t0028g0187	1	12	0.0833	502	c.-45 others(523): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCCCCCCCTCCCCCCTCCCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCGCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61784377	G G	GAATGTAA others(495): Show GAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTT GTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCGGGACAGTTCTCAAGGC CCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCCCAGTTCCTCGGGAC AGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCAAGAGAAATGTAATCCC AGTTCCTTGGGACAGTTCTCCGGGCCCTCAGATGTCCTGTGCCCCCGGGA GAAATGTAAGCCTAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCT TGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCGAGG CCCTCAGATGTCCTGTGCCCCCGGGAGAAATGTAAGCCTAGTTCCTCGGG ACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAGCC CAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGTGTCTTGTGCCCCCAAG AGA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0074 a0002c0002t0014g0074	1	95	0.0105	502	c.576 others(521): Show c.576+11202_576+11203insGCCCAGTTCCTCGGGACAGTTCTCGA GGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTCG GGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCCCAGGAGAATGTAAG CCCAGTTCCTCGGGACAGTTCTCAAGGCCCTCAGATGTCCTGTGCCCCCA AGAGAAATGTAATCCCAGTTCCTTGGGACAGTTCTCCGGGCCCTCAGATG TCCTGTGCCCCCGGGAGAAATGTAAGCCTAGTTCCTCGGGACAGTTCTCG AGGCCCTCAGGTGTCTTGTGCCCCCAAGAGAAATGTAATCCCAGTTCCTT GGGACAGTTCTCGAGGCCCTCAGATGTCCTGTGCCCCCGGGAGAAATGTA AGCCTAGTTCCTCGGGACAGTTCTCAAGGCCCTCCGATATCCTGTGCCCC CAGGAGAATGTAAGCCCAGTTCCTCGGGACAGTTCTCGAGGCCCTCAGGT GTCTTGTGCCCCCAAGAGAAATGTAA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(495): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATATGTGTGTGTATACACACACACATATGTATATATGTATGTGCATACAC ACACATATATGTATATATGTATGTGCATACACACACACACGTATATATGT ATGTGTATACACATACATATATACATATGTGTGTGTATACACATACATAT ATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	143	0.0070	502	c.253 others(521): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACGTGTGTGTGTGTA TGCACATACATATATACATATATGTGTGTGTATGCACATACATATATACA TATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACACATATGTATATATG TATGTGCATACACACACATATGTATATATGTATGTGTATACACACACACA TATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(495): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATATGTATGTGCATACACACACACACGTATATATGT ATGTGTATACACATACATATATACATATGTGTGTGTATACACATACATAT ATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0114 a0001c0001t0048g0114	1	143	0.0070	502	c.253 others(521): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTATGTGTATACACACACA TATGTATATATGTATGTGTATACACATACATATATACGTGTGTGTGTGTA TGCACATACATATATACATATATGTGTGTGTATACACATACATATATACA TATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACACATATGTATATATG TATGTGCATACACACACATATGTATATATGTATGTGTATACACACACACA TATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(495): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATATGTATGTGCATACACACACACACGTATATATGT ATGTGTATACACATACATATATACATTTGTGTGTGTATACACACACATAT ATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0123 a0001c0001t0055g0123	1	143	0.0070	502	c.253 others(521): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACACATGTATATATGTGTGTGTATACACACACA AATGTATATATGTATGTGTATACACATACATATATACGTGTGTGTGTGTA TGCACATACATATATACATATATGTGTGTGTATACACATACATATATACA TATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACACATATGTATATATG TATGTGCATACACACACATATGTATATATGTATGTGTATACACACACACA TATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CDH8_chr16_61642250_62041438	61960243	G G	GTGTGTAT others(495): Show GTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATACAT ATATACATATGTGTGTGTGTATGCACATACATATATACATATGTGTGTGT GTATACACATACATATATACATATGTGTGTATACACACATATATACATAT GTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATAT ACATATGTGTGTGTATACACACACATATGTATATATGTATGTGTATACAC ACACATATATGTATATATGTATGTGCATACACACACACACATGTATATAT GTATGTGTATACACATACATATATACATATGTGTGTGTATACACATACAT ATATACATGTGTGTGTGTATGCACATACACATATACATATATGTGTGTGT ATACACATACATATATACATATGTGTGTATACACACATATATACATATGT GTGTATACACATACATATATACATATGTGTGTGTATACACACATATATAC ATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0065 a0001c0002t0004g0065	1	143	0.0070	502	c.253 others(521): Show c.253-58771_253-58770insTATGTATATATGTGTGTATACACACA CATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATA CACACATATGTATATATGTATGTGTATACACACACATATATGTATATGTG TATGTGCATACACACACACATGTATATATGTATGTGTATACACACACATA TGTATATATGTATGTGTATACACATACATATATACATGTGTGTGTGTGTA TGCACATACATATATACATATATGTGTGTGTATACACATACATATATACA TATGTGTGTGTATACACACACATATGTATATATGTGTGTATACACACACA TATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTATACA CACATATGTATATATGTATGTGTATACACACACACATATGTATATATGTA TGTGCATACACACACACATATGTATATATGTATGTGTATACACACACACA TATGTATATATGTATGTGTATACACA	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(495): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTT ATT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0211 a0001c0001t0021g0211	1	92	0.0109	502	c.80- others(517): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAA AATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATTTTATTT ATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNOT6_chr5_180489379_180583358	180507818	A A	AAGGTGAA others(495): Show AAGGTGAAGGGGAAGCAGGTAGTCTTCACGTGGCCAGAGCTGGAAGAAGT TGGGGTGGAGATGCTACACACTTTTAAACAACCAGATCTTGCGATAACTC ACTTTCTGAGACAGCACCGAAGGGGAAAAGCCACCCCTGTAATCCAGTCA CCTCCCACTAGGCCCCACCTCCAGCACTGGGGATACAATTTGACATGACA TTTGGGTGGGAACACAGACCCAGACCATATCAGACCGTATCTAGGATGGA TTAGGTGAAGGGGAAGCAGGTAGTCTTCACGTGGCCAGAGCTGGAAGAAG TTGGGGTGGAGATGCTACACACTTTTAAACAACCAGATCTTGCGATAACT CACTTTCTGAGACAGCACCGAAGGGGAAAAGCCACCCCTGTAATCCAGTC ACCTCCCACTAGGCCCCACCTCCAGCACTGGGGATACAATTTGACATGAC ATTTGGGTGGGAACACAGACCCAGACCATATCAGACCGTATCTAGGATGG ATT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0130 a0001c0001t0007g0130	1	283	0.0035	502	c.-3+ others(519): Show c.-3+13308_-3+13309insGTGAAGGGGAAGCAGGTAGTCTTCACGT GGCCAGAGCTGGAAGAAGTTGGGGTGGAGATGCTACACACTTTTAAACAA CCAGATCTTGCGATAACTCACTTTCTGAGACAGCACCGAAGGGGAAAAGC CACCCCTGTAATCCAGTCACCTCCCACTAGGCCCCACCTCCAGCACTGGG GATACAATTTGACATGACATTTGGGTGGGAACACAGACCCAGACCATATC AGACCGTATCTAGGATGGATTAGGTGAAGGGGAAGCAGGTAGTCTTCACG TGGCCAGAGCTGGAAGAAGTTGGGGTGGAGATGCTACACACTTTTAAACA ACCAGATCTTGCGATAACTCACTTTCTGAGACAGCACCGAAGGGGAAAAG CCACCCCTGTAATCCAGTCACCTCCCACTAGGCCCCACCTCCAGCACTGG GGATACAATTTGACATGACATTTGGGTGGGAACACAGACCCAGACCATAT CAGACCGTATCTAGGATGGATTAG	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
COL23A1_chr5_178232618_178595393	178585594	T T	TGGAGTAA others(495): Show TGGAGTAACACTCCACGTCCCTGGATGACGCTGGAGTAACACTCCACAGC CCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGGATGACGCTGGAGT AACACTCCACAGCCCTGGTTGATGCTGGAGTAACACTCCACAGCCCTGGA TGACGCTGGAGTAACACTCCACAGCCCTGGTTGATGCTGGGGGTAACACT CCACAGCCCTGGATGACGCTGGAGTAACACTCCACGTCCCTGGATGACGC TGGAGTAACACTCCACAGCCCTGGTTGATGCTGGGGGTAACACTCCACAG CCCTGGATGACGCTGGAGTAACACTCCACAGCCCTGGATGATGCTGGAGT AACACTCCACAGCCCTGGTTGATGCTGGGGGTAACACTCCACAGCCCTGG ATGGCGCTGGGGTAACACTCCACAGCCCTGGTTGATGCTGGGGGTAACAC TCCACAGCCCTGGATGGCGCTGGAGTAACACTCCACAGCCCTGGTTGATG CTG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0161 a0001c0001t0005g0161	1	233	0.0043	502	c.294 others(519): Show c.294+4309_294+4310insCAGCATCAACCAGGGCTGTGGAGTGTTA CTCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGGG CTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCCA GCATCAACCAGGGCTGTGGAGTGTTACTCCAGCATCATCCAGGGCTGTGG AGTGTTACTCCAGCGTCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCA ACCAGGGCTGTGGAGTGTTACTCCAGCGTCATCCAGGGACGTGGAGTGTT ACTCCAGCGTCATCCAGGGCTGTGGAGTGTTACCCCCAGCATCAACCAGG GCTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGGAGTGTTACTCCA GCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCATCCAGGGCTGTGG AGTGTTACCCCCAGCATCAACCAGGGCTGTGGAGTGTTACTCCAGCGTCA TCCAGGGACGTGGAGTGTTACTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(495): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCTGCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGGCACGGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGC ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGT GCG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0250 a0001c0002t0006g0250	1	214	0.0047	502	c.925 others(517): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCTGCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGGCACGGGGTGTGCATGAGCCTGTGTGTGTGAGCG TGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTG TGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTG TGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATG AGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COPG2_chr7_130501238_130673748	130591233	T T	TCTGCCCA others(495): Show TCTGCCCAGCCAGCCGCCCTGTCTGGGAAGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCG GGAAGGAGGTGGGGGGGTCAGCACCCCGCCTGGCCAGCCACCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCC CCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCA GCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01255.hp2 others(30): Show HG00438.hp1 HG01106.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01993.hp2 HG02155.hp2 HG03834.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18955.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18980.hp2 NA18982.hp2 NA18992.hp1 NA18998.hp2 NA19009.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0009	a0001c0002 a0006c0007 a0008c0013 others(1): Show a0001c0002 a0006c0007 a0008c0013 a0009c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0006c0007t0001 a0008c0013t0001 a0009c0014t0001	a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0008 others(30): Show a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0121 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0002g0089 a0001c0002t0004g0082 a0001c0002t0004g0084 a0001c0002t0005g0078 a0001c0002t0005g0079 a0001c0002t0005g0080 a0006c0007t0001g0098 a0008c0013t0001g0069 a0009c0014t0001g0090	33	319	0.1034	502	c.737 others(521): Show c.737+19719_737+19720insGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAGGC GGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCCGGGCG GGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCTT CCCAGACAGGGCGGCTGGCTGGGCAG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591235	T T	TGCCCAGC others(495): Show TGCCCAGCCAGCCGCCCTGTCTGGGAAGGAGGTGGGGGGGTCAGCCCCCC ACCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCA GGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGG AAGGAGGTGGGGGGGTCAGCACCCCGCCTGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGC CCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	324	0.0031	502	c.737 others(521): Show c.737+19717_737+19718insGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTAGA GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAG GCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCC TTCCCAGACAGGGCGGCTGGCTGGGC	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(495): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTC CACCCATCCCCCCACCCACCCATCCCCCCACCCACCCATCCGTCCACCCA TCTGTCCACCCGTCCGTCCATCCATCCCCCCCGCCCACCCATCTGTCCAC CCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCC GCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCAT CTGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCC CCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCAC CCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCC ATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCC CCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0202 a0001c0005t0002g0202	1	3	0.3333	502	c.13 others(513): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCT GTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCCCCCACCCAC CCATCCGTCCACCCATCTGTCCACCCGTCCGTCCATCCATCCCCCCCGCC CACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTG TCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCA CCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACC CACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCA CCCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATC TGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar
DECR2_chr16_396885_417482	397669	T T	TGTGGGGG others(495): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	361	0.0028	502	c.-42 others(513): Show c.-4295_-4294insGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGA GGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4215		chr16	TogoVar
DGKD_chr2_233349494_233477098	233397126	T T	TGAGAGGA others(495): Show TGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGA GGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACA CCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCA GAGGGGACCAGGGTGGCTGGGGGGGGGCGCCAGAGTGAGAGGACTCCAGA GGGGACCAGGGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGA CCAGCGTGGCTGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGG GTGGCTGGGGGGGGCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCT GGCAGAGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAG AGGCCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCC AGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGCCAG AGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0116 a0001c0002t0012g0116	1	332	0.0030	502	c.348 others(519): Show c.348+6674_348+6675insGCAGAGGCCAGAGTGAGAGGACACCAGA GGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGA CCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCA GGGTGGCTGGGGGGGGGCGCCAGAGTGAGAGGACTCCAGAGGGGACCAGG GTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGCGTGGC TGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGGGG GGGGCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCC AGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGT GAGAGGACTCCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGCCAGAGCGAGAGGA CACCAGAGGGGACCAGGGTGGCTG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(495): Show GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGA AGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGA GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGA GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGA GGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGG GAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGG GGAGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGG GAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGG GAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGG GAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAA GAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	52	0.0192	502	c.158 others(519): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCTTCTTCTCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCT CCCCTCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCTTCTTCTCCCCTCCCCTCCTCTCCCCTCCCTTCTTCTCCCC TCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCT TCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTC TCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCC TCCCTTCTTCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	894845	G G	GCTGGCAG others(495): Show GCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGC GGCCGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGCTGGCAGGGGCGG GGTGGGGAAAGTGGAGCGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGA GTGGTGGCTGGCAGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGG GTAGCGGCTGGCAGGGGCGGGGTGGGGACAGCAGAGTGGTGGCTGGCAGG GGCGGGGTGGGGAGAGCGGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGA GCGGAGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTG GCAGGGGTAGCGGCCGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTT GGCAGGGGCGGGGTGGGGAAAGTGGGGTGGTGGATGGCAGGGGTGGCATG GGAAGAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGG TGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	3	0.3333	502	c.19- others(519): Show c.19-12981_19-12980insCTGGCAGGGGCGGGGTGGGGAAAGTGGA GCGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGG GCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCTGGCAGG GGCGGGGTGGGGACAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGA GCGGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTG GCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCC GGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTTGGCAGGGGCGGGGTG GGGAAAGTGGGGTGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGG TGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCG GGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCCGGCAGGGGC GGGGTGGGGGGAGTGGAGTGGCGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	894845	G G	GCTGGCAG others(495): Show GCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGC GGCCGGCAGGGGTGGGGTGGGGGGAGTGGAGTGGCGGCTGGCAGGGGCGG GGTGGGGAAAGTGGAGCGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGA GTGGTGGCTGGCAGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGG GTAGCGGCTGGCAGGGGCGGGGTGGGGACAGCAGAGTGGTGGCTGGCAGG GGCGGGGTGGGGAGAGCGGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGA GCGGAGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTG GCAGGGGTAGCGGCCGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTT GGCAGGGGCGGGGTGGGGAAAGTGGGGTGGTGGATGGCAGGGGTGGCATG GGAAGAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGG TGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 HG02647.hp1 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0017 a0002c0006t0021 a0001c0003t0017 a0002c0006t0021	a0001c0003t0017g0004 a0002c0006t0021g0014 a0001c0003t0017g0004 a0002c0006t0021g0014	2	4	0.5000	502	c.19- others(519): Show c.19-13006_19-13005insTGGGGTGGGGGGAGTGGAGTGGCGGCTG GCAGGGGCGGGGTGGGGAAAGTGGAGCGGTGGATGGCAGGGGTGGCATGG GAAGAGCAGAGTGGTGGCTGGCAGGGCGGGGTGGGGAGAGCGGAGTGGTG ACTGGCAGGGGTAGCGGCTGGCAGGGGCGGGGTGGGGACAGCAGAGTGGT GGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGGCTGGCAGGGGCGG GGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGA GTGGTGACTGGCAGGGGTAGCGGCCGGCAGGGGCGGGGTGGGGGGAGTGG AGTGGCGGTTGGCAGGGGCGGGGTGGGGAAAGTGGGGTGGTGGATGGCAG GGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAG AGCGGAGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACT GGCAGGGGTAGCGGCCGGCAGGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	894845	G G	GCTGGCAG others(495): Show GCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGTAGC GGCTGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGCTGGCAGGGGCGG GGTGGGGAAAGTGGAGCGGTGGATGGCAGGGGTGGCATGGGAAGAGCAGA GTGGTGGCTGGCAGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGG GTAGCGGCTGGCAGGGGCGGGGTGGGGACAGCAGAGTGGTGGCTGGCAGG GGCGGGGTGGGGAGAGCGGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGA GCGGAGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTG GCAGGGGTAGCGGCCGGCAGGGGCGGGGTGGGGGGAGTGGAGTGGCGGTT GGCAGGGGCGGGGTGGGGAAAGTGGGGTGGTGGATGGCAGGGGTGGCATG GGAAGAGCAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGG TGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01071.hp1 HG01071.hp2 others(21): Show HG00639.hp1 HG01071.hp1 HG01071.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02647.hp2 HG02698.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03710.hp1 HG03710.hp2 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0011 others(6): Show a0001c0002 a0001c0003 a0001c0011 a0001c0012 a0002c0001 a0002c0004 a0002c0007 a0003c0005 a0004c0008	a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 others(17): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0010 a0001c0003t0001 a0001c0003t0024 a0001c0011t0015 a0001c0012t0004 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0007 a0002c0001t0011 a0002c0001t0019 a0002c0001t0020 a0002c0004t0026 a0002c0007t0008 a0003c0005t0004 a0004c0008t0016	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 others(21): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0002t0010g0008 a0001c0003t0001g0025 a0001c0003t0001g0027 a0001c0003t0024g0003 a0001c0011t0015g0001 a0001c0012t0004g0036 a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0001t0005g0035 a0002c0001t0007g0038 a0002c0001t0011g0002 a0002c0001t0019g0031 a0002c0001t0020g0024 a0002c0004t0026g0016 a0002c0007t0008g0040 a0003c0005t0004g0037 a0004c0008t0016g0028	24	26	0.9231	502	c.19- others(519): Show c.19-13015_19-13014insTGGCAGGGGCGGGGTGGGGGGAGTGGAG TGGCGGCTGGCAGGGGCGGGGTGGGGAAAGTGGAGCGGTGGATGGCAGGG GTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGCGGGGTGGGGAGAGC GGAGTGGTGACTGGCAGGGGTAGCGGCTGGCAGGGGCGGGGTGGGGACAG CAGAGTGGTGGCTGGCAGGGGCGGGGTGGGGAGAGCGGAGTGGTGGCTGG CAGGGGCGGGGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCGGGGTGGG GAGAGCGGAGTGGTGACTGGCAGGGGTAGCGGCCGGCAGGGGCGGGGTGG GGGGAGTGGAGTGGCGGTTGGCAGGGGCGGGGTGGGGAAAGTGGGGTGGT GGATGGCAGGGGTGGCATGGGAAGAGCAGAGTGGTGGCTGGCAGGGGCGG GGTGGGGAGAGCGGAGTGGTGACTGGCAGGGGCGGGGTGGGGAGAGCGGA GTGGTGACTGGCAGGGGTAGCGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(495): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATATGATATATATATCATATATTTCTATAT ATGATATATATATCATATATATGATATATATATCATATATTTCTATATAT GATATATATATCATATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATATGATA TATATATCATATATATGATATATATATCATATATTTCTATATATGATATA TATATCATATATATGATATATATATCATATATTTCTATATATGATATATA TAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0015 a0001c0014t0001g0015	1	15	0.0667	502	c.316 others(521): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TATGATATATATATCATATATTTCTATATATGATATATATATCATATATA TGATATATATATCATATATTTCTATATATGATATATATATCATATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATATGATATATATATCATATATATGATAT ATATATCATATATTTCTATATATGATATATATATCATATATATGATATAT ATATCATATATTTCTATATATGATATATATAATATATATGATATATATAT CATATATTTCTATATATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBXO47_chr17_38931432_38972403	38946669	T T	TATATAAA others(495): Show TATATAAATATATATAAATATATAAATATATAAAAATATATAAATACATA AATATATAAATATATAAATATATATACATAAATATATAAATATATAAATA TATAAATATATAAATACATAATATATATAAATATAAAATATATATAATAT ATAAAATATATTAAAAATATAAAAATATATATAAAAAATATATAAATATA TAAAAATATATAAAAAATATATACACATATAAATATATATAAAAATATAT AAATATATATAAAAATATATAAATATATATTATATATAAATATATAATAT ATAAATATATATAAATATATAAATATATATAAATATATACAATATATAAA TATATATAAATATATACAATATATAAATATATATAAATATATACAATATA TAAATATATATAAATATATACAATATATAAATATATATAAATATATATAA TATATAAATATATATAAATATATACAATATATAAATATATATAAATATAT ATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	217	0.0046	502	c.617 others(519): Show c.617-1534_617-1533insTATATATATTTATATATATTTATATATT GTATATATTTATATATATTTATATATTATATATATTTATATATATTTATA TATTGTATATATTTATATATATTTATATATTGTATATATTTATATATATT TATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATA TATTTATATATTTATATATATTTATATATTATATATTTATATATAATATA TATTTATATATTTTTATATATATTTATATATTTTTATATATATTTATATG TGTATATATTTTTTATATATTTTTATATATTTATATATTTTTTATATATA TTTTTATATTTTTAATATATTTTATATATTATATATATTTTATATTTATA TATATTATGTATTTATATATTTATATATTTATATATTTATATATTTATGT ATATATATTTATATATTTATATATTTATGTATTTATATATTTTTATATAT TTATATATTTATATATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GALR1_chr18_77244848_77282900	77248111	T T	TGTGGGTT others(495): Show TGTGGGTTTTTATTTTTTATTTTTTATTTATTTTTTTTTTAAATTTTTTT TTTATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATATATGTGCCATGCTGGTGCGCTGCACCCACCAACGTGTC ATCTATCATTAGGTATATCTCCCACTGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCTCTTCCTGTGCCCTTGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGACATGAACTCATCATTTCCAATTTCATCCATGTCCCTA CAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTG TATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGG TTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0313 a0001c0004t0018g0313	1	262	0.0038	502	c.-24 others(513): Show c.-2438_-2437insGTGGGTTTTTATTTTTTATTTTTTATTTATTTTT TTTTTAAATTTTTTTTTTATTATACTTTAAGTTTTAGGGTACATGTGCAC ATTGTGCAGGTTAGTTACATATGTATATATGTGCCATGCTGGTGCGCTGC ACCCACCAACGTGTCATCTATCATTAGGTATATCTCCCACTGCTATCCCT CCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCTCTTC CTGTGCCCTTGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATAT GCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTT CCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTCCAATT TCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCA TAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCAT TGTTGGACATTTGGGTTG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		1736		chr18	TogoVar
GLB1L3_chr11_134271379_134324564	134308212	C C	CACCACCA others(495): Show CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCA TCACCATCACCACCATCACCACCACCACCACCACCACCAAATACCACCAC CACCACCATCACCACCACCACCACTACCACCACCATCACCATCACCATCA CCACCACCACCACCATCACCATCACCATCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCATCACCATCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCACC ATGTCCACCACCACTACCACCACCAAATACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCATCATCACCATCACCACC ATCACCACCACCACCACCACCACCACCAAATACCACCACCACCATGTCCA CCACCACTACCACCACCATCACCATCACCATCACCATCATCACCATCACC ACT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	418	0.0024	502	c.961 others(519): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CACCACCACCACCATCATCACCATCACCACCATCACCACCACCACCACCA CCACCAAATACCACCACCACCACCATCACCACCACCACCACTACCACCAC CATCACCATCACCATCACCACCACCACCACCATCACCATCACCATCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCATC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAA ATACCACCACCACCACCATGTCCACCACCACTACCACCACCAAATACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA TCATCACCATCACCACCATCACCACCACCACCACCACCACCACCAAATAC CACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACCATCA CCATCATCACCATCACCACTACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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