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
C7orf33_chr7_148585766_148620860	148616963	A A	ACACACGG others(283): Show ACACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCC CTCCCTCAACACACGGGAATTACAGATCCCTCCCTCAGCACACGGGAATT ACAGATCCCTCCCGCAGCACACGGGAATTACAGATCCCTCCCTCAGCACA CGGGAATTACAGGTCCCTCCCTCAGCACACGGGAATTACAGATCCCTCCC TCAGCACACGGGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGA TCCCTCCCTCAGCACATGGGAATTACAGATCCCTCCCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	440	0.0023	290	c.15 others(301): Show c.1562_*1563insCACACGGGAATTACAGATCCCTCCCTCAACACAC GGGAATTACAGATCCCTCCCTCAACACACGGGAATTACAGATCCCTCCCT CAGCACACGGGAATTACAGATCCCTCCCGCAGCACACGGGAATTACAGAT CCCTCCCTCAGCACACGGGAATTACAGGTCCCTCCCTCAGCACACGGGAA TTACAGATCCCTCCCTCAGCACACGGGAATTACAGATCCCTCCCTCAACA CACGGGAATTACAGATCCCTCCCTCAGCACATGGGAATTACAGATCCCTC CCTCAG	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1104		chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1199190	A A	ACCCACCG others(283): Show ACCCACCGTGCGGTCGCTGCACATATGACCCACCCCCCACCATGGCTCCG CCCACCGCGCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCC CACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCA CCGTGCGGTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCACC GTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGT GCAGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp2 others(15): Show HG00099.hp1 HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01256.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp2 HG02559.hp1 HG02683.hp1 HG02683.hp2 HG03017.hp2 HG03239.hp2 HG04204.hp2 NA20905.hp1	a0006 a0008 a0025 others(2): Show a0006 a0008 a0025 a0029 a0041	a0006c0003 a0008c0005 a0025c0053 others(2): Show a0006c0003 a0008c0005 a0025c0053 a0029c0054 a0041c0051	a0006c0003t0001 a0006c0003t0002 a0006c0003t0005 others(6): Show a0006c0003t0001 a0006c0003t0002 a0006c0003t0005 a0006c0003t0009 a0008c0005t0003 a0008c0005t0008 a0025c0053t0001 a0029c0054t0003 a0041c0051t0001	a0006c0003t0001g0018 a0006c0003t0001g0091 a0006c0003t0001g0165 others(15): Show a0006c0003t0001g0018 a0006c0003t0001g0091 a0006c0003t0001g0165 a0006c0003t0001g0166 a0006c0003t0001g0173 a0006c0003t0002g0156 a0006c0003t0005g0254 a0006c0003t0009g0167 a0008c0005t0003g0071 a0008c0005t0003g0112 a0008c0005t0008g0256 a0008c0005t0008g0257 a0008c0005t0008g0258 a0008c0005t0008g0273 a0008c0005t0008g0279 a0025c0053t0001g0004 a0029c0054t0003g0050 a0041c0051t0001g0295	18	307	0.0586	290	c.803 others(305): Show c.803+442_803+443insACCCACCCCCCACCATGGCTCCGCCCACCG CGCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTG CGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCG GTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCACCGTGCGGT CGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCAGTCG CTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGTGCGGTCGC TGCACATATG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199190	A A	ACCCACCG others(283): Show ACCCACCGTGCGGTCGCTGCACATATGACCCACCCCCCACCATGGCTCCG CCCACCGCGCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCC CACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCA CCGTGCGGTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCACC GTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGT GCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCG	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20300.hp2 HG00642.hp2 NA20300.hp2	a0006 a0008 a0006 a0008	a0006c0050 a0008c0005 a0006c0050 a0008c0005	a0006c0050t0001 a0008c0005t0003 a0006c0050t0001 a0008c0005t0003	a0006c0050t0001g0192 a0008c0005t0003g0168 a0006c0050t0001g0192 a0008c0005t0003g0168	2	291	0.0069	290	c.803 others(305): Show c.803+442_803+443insACCCACCCCCCACCATGGCTCCGCCCACCG CGCAGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTG CGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCG GTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCACCGTGCGGT CGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCG CTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGTGCGGTCGC TGCACATATG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199190	A A	ACCCACCG others(283): Show ACCCACCGTGCGGTCGCTGCACATATGACCCACCCCCCACCATGGCTCCG CCCACCGCGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCC CACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCA CCGTGCGGTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCACC GTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGT GCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02818.hp2 others(6): Show HG02109.hp2 HG02630.hp1 HG02818.hp2 HG03139.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0012 a0002c0058 a0003c0022 others(2): Show a0002c0012 a0002c0058 a0003c0022 a0005c0023 a0005c0059	a0002c0012t0001 a0002c0012t0002 a0002c0058t0022 others(4): Show a0002c0012t0001 a0002c0012t0002 a0002c0058t0022 a0003c0022t0019 a0003c0022t0026 a0005c0023t0003 a0005c0059t0003	a0002c0012t0001g0318 a0002c0012t0002g0049 a0002c0012t0002g0332 others(6): Show a0002c0012t0001g0318 a0002c0012t0002g0049 a0002c0012t0002g0332 a0002c0012t0002g0333 a0002c0058t0022g0026 a0003c0022t0019g0024 a0003c0022t0026g0025 a0005c0023t0003g0044 a0005c0059t0003g0023	9	298	0.0302	290	c.803 others(305): Show c.803+442_803+443insACCCACCCCCCACCATGGCTCCGCCCACCG CGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTG CGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCG GTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCACCGTGCGGT CGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCG CTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGTGCGGTCGC TGCACATATG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199190	A A	ACCCACCG others(283): Show ACCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGC CCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCC ACCGTGCGGTCGCTGCACATATGCCCCACCCCGATCATGGCTCCGCCCAC CGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCG TGCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGT GCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19003.hp2 NA18970.hp1 NA19003.hp2	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0004 a0024c0021t0004	a0024c0021t0004g0069 a0024c0021t0004g0235 a0024c0021t0004g0069 a0024c0021t0004g0235	2	291	0.0069	290	c.803 others(305): Show c.803+474_803+475insGGTCGCTGCACATATGCCCCACCCCCATCA TGGCTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCGATCATG GCTCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGC TCCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCT CCGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCCACCATGGCTC CGCCCACCGTGCGGTCGCTGCACATATGCCCCACCCCCATCATGGCTCCG CCCACCGTGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1199298	A A	AGTCGCTG others(283): Show AGTCGCTGCACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGCGCA GTCGCTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGT CGCTGCACATATGCCCCACCCCCATCATGGCTCCACCCACCGTGCGGTCG CTGCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCGCT GCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTAGCTGC ACATATGCCCCACCCCCCACCATGGCTCCGCCCACCGTGCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0059 a0059	a0059c0044 a0059c0044	a0059c0044t0006 a0059c0044t0006	a0059c0044t0006g0193 a0059c0044t0006g0193	1	250	0.0040	290	c.803 others(305): Show c.803+549_803+550insCACCATGGCTCCGCCCACCGCGCAGTCGCT GCACATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCGCTGC ACATATGCCCCACCCCCATCATGGCTCCACCCACCGTGCGGTCGCTGCAC ATATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTCGCTGCACAT ATGCCCCACCCCCATCATGGCTCCGCCCACCGTGCGGTAGCTGCACATAT GCCCCACCCCCCACCATGGCTCCGCCCACCGTGCGGTCGCTGCACATATG CCCCACCCCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596170	G G	GGGGGGCA others(283): Show GGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGGGAG CAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGG GCGGAGAGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGAGCAGGACGG AGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAG ATGGGGGAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGG GGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0003 a0001c0046t0003	a0001c0046t0003g0185 a0001c0046t0003g0185	1	215	0.0047	290	c.237 others(307): Show c.237-1954_237-1953insCAGGGCGGAGAGAGATGGGGAGCAGGGC GGAGAGAGATGGGGGGGCAGGGCGGAGAGAGATGGGGGGGCAGGGCGGAG AGAGATGGGGGGCAGGGCGGAGGGAGATGGGGGGAGCAGGACGGAGGGAG ATGGGGGGCAGGGCGGAGGGAGATGGGGGGCAGGGCGGAGGGAGATGGGG GAGCAGGACGGAGGGAGATGGGGGAGCAGGACGGAGGGAGATGGGGGCAG GGCGGAGGGAGATGGGGGGCAGGGCGGAGAGAGATGGGGGCAGGGCGGAG GGAGATGGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATATA others(283): Show TATATATATATGTGTATATATATGTATATACATATATATGTGTATATATA TGTATATACATATATATGTGTATATATATGTATATACATATATATGTGTA TATATATGTATATACATATATATGTGTATATATATGTATATACATATATA TATGTGTATATATATGTATATACATATATATATGTGTATATATATGTATA TACATATATATGTGTATATATATGTATATACATATATATATGTGTATATA TATGTATATACATATATATATGTGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0001 a0002c0003t0006g0001	1	49	0.0204	290	c.125 others(309): Show c.125-88284_125-88283insGTATATACATATATATACACATATAT ATATGTATATACATATATATACACATATATATATGTATATACATATATAT ACACATATATATGTATATACATATATATACACATATATATATGTATATAC ATATATATACACATATATATATGTATATACATATATATACACATATATAT GTATATACATATATATACACATATATATGTATATACATATATATACACAT ATATATGTATATACATATATATACACATATATATGTATATACATATATAT ACACATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CAMSAP2_chr1_200733893_200865704	200816939	T T	TATATATG others(283): Show TATATATGTGTGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCG CGTATGTGTGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCG TATGTGTGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCGTA TGTGTGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCGTATG TGTGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCGTATGTG TGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	364	0.0027	290	c.645 others(307): Show c.645+1295_645+1296insATATATGTGTGTACACACGCGCGCGCGT ATGTGTGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCGTAT GTGTGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCGTATGT GTGTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCGTATGTGT GTACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCGTATGTGTGT ACACACGCGCGCGCGTATGTGTGTACACACGCGCGCGCGTATGTGTGTAC ACACGCGCGCGC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16			chr1	TogoVar
CCDC110_chr4_185440182_185476733	185460992	T T	TGGTAGTC others(283): Show TGGTAGTCACGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACT CTTTCGCCCAAGCTGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCT CCGCCTCTTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA19000.hp2 HG02523.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0005t0001 a0002c0002t0001 a0002c0005t0001	a0002c0002t0001g0110 a0002c0005t0001g0336 a0002c0002t0001g0110 a0002c0005t0001g0336	2	270	0.0074	290	c.348 others(303): Show c.348+56_348+57insGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC AAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTT GGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACG TGACTACC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	5/6			chr4	TogoVar
CCDC110_chr4_185440182_185476733	185460992	T T	TGGTAGTC others(283): Show TGGTAGTCACGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACT CTTTCGCCCAAGCTGGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCT CCGCCTCTTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCACCCACCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00741.hp2 others(12): Show HG00544.hp1 HG00597.hp1 HG00741.hp2 HG01109.hp2 HG02056.hp1 HG02109.hp1 HG02896.hp2 HG03239.hp1 HG03834.hp1 HG04184.hp1 NA18966.hp1 NA18995.hp2 NA19063.hp1 NA19067.hp1 NA19090.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0019 a0002c0002 a0010c0019	a0002c0002t0001 a0002c0002t0002 a0010c0019t0003 a0002c0002t0001 a0002c0002t0002 a0010c0019t0003	a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0057 others(12): Show a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0057 a0002c0002t0001g0109 a0002c0002t0001g0140 a0002c0002t0001g0144 a0002c0002t0001g0170 a0002c0002t0001g0248 a0002c0002t0001g0280 a0002c0002t0001g0285 a0002c0002t0001g0321 a0002c0002t0002g0063 a0002c0002t0002g0209 a0002c0002t0002g0365 a0010c0019t0003g0224	15	283	0.0530	290	c.348 others(303): Show c.348+56_348+57insGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG CGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGC CTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCC AAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTT GGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAACG TGACTACC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	5/6			chr4	TogoVar
CCDC57_chr17_82096470_82217842	82162553	T T	TTGACCAG others(283): Show TTGACCAGGACCCCTCTGAGCGGGCAGGTGGCATCGGGCAGCCCGCACAC ACGCCCCACTGACCAGGACCCCTCTGAGCGGGCAGGTGGCATCGGGCAGC CCGCACACACGCCCCACTGACCAGGACCCCTCTGAGCGGGCAGGTGGCAT CGGGCAGCCCGCACACACGCCCCACTGACCAGGACCCCTCTGAGCGGGCA GGTGGCATCGGGCAGCCCGCACACACGCCCCACTGACCAGGACCCCTCTG AGCGGGCAGGTGGCATCGGGCAGCCCGCACACACGCCCCAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02738.hp2 HG01934.hp2 HG02738.hp2	a0002 a0017 a0002 a0017	a0002c0002 a0017c0021 a0002c0002 a0017c0021	a0002c0002t0001 a0017c0021t0001 a0002c0002t0001 a0017c0021t0001	a0002c0002t0001g0224 a0017c0021t0001g0208 a0002c0002t0001g0224 a0017c0021t0001g0208	2	136	0.0147	290	c.204 others(307): Show c.2040+357_2040+646dupGTGGGGCGTGTGTGCGGGCTGCCCGATG CCACCTGCCCGCTCAGAGGGGTCCTGGTCAGTGGGGCGTGTGTGCGGGCT GCCCGATGCCACCTGCCCGCTCAGAGGGGTCCTGGTCAGTGGGGCGTGTG TGCGGGCTGCCCGATGCCACCTGCCCGCTCAGAGGGGTCCTGGTCAGTGG GGCGTGTGTGCGGGCTGCCCGATGCCACCTGCCCGCTCAGAGGGGTCCTG GTCAGTGGGGCGTGTGTGCGGGCTGCCCGATGCCACCTGCCCGCTCAGAG GGGTCCTGGTCA	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding	13/18			chr17	TogoVar
CCDC63_chr12_110841987_110912535	110905933	A A	ATATATAA others(283): Show ATATATAATATATATTTTATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATATAATATATATTATATAAAATATATAT TATATATAATATATATTATATAAAATATATATTATATTATATAATATATA TTATATAAAATATATATTATATTATATATAATATATATTATATAAAATAT ATATTATATATAATATATATTATATAAAATATATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	250	0.0040	290	c.154 others(309): Show c.1546+1146_1546+1147insTAATATATATTTTATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATATAATATA TATTATATAAAATATATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTATATAAAATATATATTATATATAATATATATTATATAAAATA TATATTATATATAATATATATTATATAAAATATATATTATATTATATATA ATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420201	C C	CACATAGC others(283): Show CACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	216	0.0046	290	c.413 others(307): Show c.413+1568_413+1569insTAGCAGCACCCTCCATGTTCCATTACAG TGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCA CCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGA GAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACC CTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGA GGGTAAAATACA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AAAAAATA others(283): Show AAAAAATATATATATATATATATATATATATATATATATACACACTCATA TATATATATATATATACTCATATATATATATATATATACTCATATATATA TATATATACTCATATATATATATATACTCATATATATATATATATACTCA TATATATATATATACTCATATATATATATACTCATATATATATATACTCA TATATATATATATACACTCATATATATATATATACACTCATATATATATA TATATACTCATATATATATATATATATACTCATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18969.hp2 HG02056.hp2 NA18969.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0013 a0002c0003t0006g0014 a0002c0003t0006g0013 a0002c0003t0006g0014	2	219	0.0091	290	c.232 others(311): Show c.2326-11614_2326-11613insAAAATATATATATATATATATATA TATATATATATATACACACTCATATATATATATATATATACTCATATATA TATATATATATACTCATATATATATATATATACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATACTCATATATATA TATACTCATATATATATATACTCATATATATATATATACACTCATATATA TATATATACACTCATATATATATATATATACTCATATATATATATATATA TACTCATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(283): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGAAG GGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGG ATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGG AGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGG GCAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0213 a0001c0001t0003g0214	2	3	0.6667	290	c.727 others(307): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCT CCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCT CCCCTGCCCCCATCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTC CCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD3G_chr11_118339344_118360161	118355820	T T	TACACACA others(283): Show TACACACACACGTGTGTGTATACGCATACACACACACGTGTGTGTATACG CATACACACACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCA TACACACACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCATA CACACACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCATACA CACACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCATACACA CACGTGTGTGTATACGCATACACACACGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0050 a0001c0001t0019g0050	1	440	0.0023	290	c.27 others(301): Show c.2720_*2721insACACACACACGTGTGTGTATACGCATACACACAC ACGTGTGTGTATACGCATACACACACGTGTGTGTATACGCATACACACAC GTGTGTGTATACGCATACACACACGTGTGTGTATACGCATACACACACGT GTGTGTATACGCATACACACACGTGTGTGTATACGCATACACACACGTGT GTGTATACGCATACACACACGTGTGTGTATACGCATACACACACGTGTGT GTATACGCATACACACACGTGTGTGTATACGCATACACACACGTGTGTGT ATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		660		chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(283): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCGTCCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCCCTCCCCCTCCCCCCTC CCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCCTCCCCCCTCCCCCC TCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCTCC CCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCCCTCCCCCTCCT CTCCCCCTCCCTTCCCCTCCTCTCCCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	12	0.0833	290	c.-45 others(311): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCGTCCCCC TCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCCCTCCC CCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCCTCCCCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCC CCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCCTCCCCTCCCCT CTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881881	G G	GATATATA others(283): Show GATATATAGATGCATCTATATAGATATATAATCTATATAGATATATAATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA19058.hp1 NA18982.hp2 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0002 a0001c0004t0001g0257 a0001c0002t0001g0002 a0001c0004t0001g0257	2	425	0.0047	290	c.12 others(301): Show c.1295_*1296insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATAGATGTATCT ATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATAT CTATATAGATTATATATCTATATAGATTATATATCTATATAGATGCATCT ATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		397		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881903	G G	GATATATA others(283): Show GATATATAATCTATATAGATATATAATCTATATAGATATATAGATACATC TATATAGATATATAGATACATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	411	0.0024	290	c.12 others(301): Show c.1273_*1274insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATAGATGTATCT ATATATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATAT CTATATAGATGTATCTATATATCTATATAGATTATATATCTATATAGATT ATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		375		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(283): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	200	0.0050	290	c.12 others(301): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTAGATGTATCTATATATCTATATAGATGTATCTATATATC TATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CFAP47_chrX_35914734_36390317	35924298	C C	CATATGTA others(283): Show CATATGTACACCTATGTGTATAGGCGTACATATATGTGTACATATGTACG CCTATGTGTATAGGCGTACATATATGTGTACATATGTACGCCTATGTGTA TAGGCGTACATATATGTGTACATATGTACGCCTATGTGTATAGGCGTACA TATATGTGTACATGTGTACGCCTATGTGTATAGGTGCACATATATGTGTA CAGGTGTACATATATGTGTACACATGTGCACATATGTGTATAGGTGTACA TATATGTGTACATATGTGCACATATGTGTATAGGTGTACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02615.hp1 others(3): Show HG01884.hp2 HG01891.hp2 HG02615.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0009 a0013 a0016 a0009 a0013 a0016	a0009c0007 a0013c0049 a0013c0052 others(1): Show a0009c0007 a0013c0049 a0013c0052 a0016c0018	a0009c0007t0001 a0013c0049t0001 a0013c0052t0002 others(1): Show a0009c0007t0001 a0013c0049t0001 a0013c0052t0002 a0016c0018t0001	a0009c0007t0001g0199 a0009c0007t0001g0200 a0009c0007t0001g0201 others(3): Show a0009c0007t0001g0199 a0009c0007t0001g0200 a0009c0007t0001g0201 a0013c0049t0001g0016 a0013c0052t0002g0197 a0016c0018t0001g0196	6	204	0.0294	290	c.250 others(307): Show c.250-1718_250-1717insTATGTACACCTATGTGTATAGGCGTACA TATATGTGTACATATGTACGCCTATGTGTATAGGCGTACATATATGTGTA CATATGTACGCCTATGTGTATAGGCGTACATATATGTGTACATATGTACG CCTATGTGTATAGGCGTACATATATGTGTACATGTGTACGCCTATGTGTA TAGGTGCACATATATGTGTACAGGTGTACATATATGTGTACACATGTGCA CATATGTGTATAGGTGTACATATATGTGTACATATGTGCACATATGTGTA TAGGTGTACATA	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CLPTM1L_chr5_1312752_1350099	1329788	A A	AGCCTCAG others(283): Show AGCCTCAGGACTCTCTGCTTGGTGGACAGAGCCTCAGGACTCTCTGCTTG GTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTC TCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCT CAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGA CAGGGCCTCAGGACTATCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGC CTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	299	0.0033	290	c.108 others(307): Show c.1080+491_1080+492insCCTGTCCACCAAGCAGAGAGTCCTGAGG CCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGATAG TCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAG GCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTG TCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTG AGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAAGCAGA GAGTCCTGAGGC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255806	A A	AGGGGGAA others(283): Show AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0178 a0003c0012t0001g0178	1	298	0.0034	290	c.85- others(307): Show c.85-13073_85-13072insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255845	G G	GAGGGGGA others(283): Show GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0305 a0003c0012t0002g0305	1	208	0.0048	290	c.85- others(307): Show c.85-13112_85-13111insTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(283): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0106 a0001c0005t0001g0106	1	21	0.0476	290	c.510 others(309): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(283): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGA GTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCT ACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0168 a0001c0001t0168	a0001c0001t0168g0083 a0001c0001t0168g0083	1	146	0.0068	290	c.-16 others(301): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCACGCCCGGCTCTTTTTTTTTTTTTTTTTCTCTCT GTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGT AGACACAGGGTTTCTACCATGTTAGCCAGGATGGTCTTGATCTCCTGACC TCGTGA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(283): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGG AGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCA CCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTC ACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG02165.hp1 HG02523.hp1 others(33): Show HG00408.hp2 HG02165.hp1 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG03704.hp2 NA18612.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18989.hp1 NA18997.hp1 NA18999.hp2 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19074.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 others(26): Show a0001c0001t0012 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0003t0037	a0001c0001t0012g0125 a0001c0001t0016g0126 a0001c0001t0016g0127 others(29): Show a0001c0001t0012g0125 a0001c0001t0016g0126 a0001c0001t0016g0127 a0001c0001t0020g0011 a0001c0001t0021g0004 a0001c0001t0021g0121 a0001c0001t0031g0004 a0001c0001t0032g0035 a0001c0001t0033g0034 a0001c0001t0034g0033 a0001c0001t0035g0016 a0001c0001t0036g0016 a0001c0001t0036g0033 a0001c0001t0037g0124 a0001c0001t0056g0123 a0001c0001t0057g0004 a0001c0001t0058g0004 a0001c0001t0059g0011 a0001c0001t0060g0111 a0001c0001t0061g0004 a0001c0001t0062g0120 a0001c0001t0063g0113 a0001c0001t0064g0119 a0001c0001t0065g0118 a0001c0001t0066g0110 a0001c0001t0067g0114 a0001c0001t0068g0116 a0001c0001t0069g0115 a0001c0001t0070g0034 a0001c0001t0071g0004 a0001c0001t0072g0117 a0001c0003t0037g0004	36	181	0.1989	290	c.-16 others(301): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTC TGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCACCACCACGCCCAGCTAATTTTTTTTGTATTTTTAG TAGACACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACC TCGTGA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(283): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGG AGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTC ACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02895.hp2 HG02897.hp1 others(2): Show HG01934.hp2 HG02895.hp2 HG02897.hp1 NA18960.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0114 a0001c0001t0115 others(2): Show a0001c0001t0003 a0001c0001t0114 a0001c0001t0115 a0001c0001t0156 a0001c0001t0160	a0001c0001t0003g0031 a0001c0001t0114g0246 a0001c0001t0115g0247 others(2): Show a0001c0001t0003g0031 a0001c0001t0114g0246 a0001c0001t0115g0247 a0001c0001t0156g0073 a0001c0001t0160g0065	5	150	0.0333	290	c.-16 others(301): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTC TGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAG TAGACACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACC TCGTGA	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92120591	C C	CCGCCCGC others(283): Show CCGCCCGCCTAGGCCTCCAAAGTGCTGGATTACAGGCGTGAGCCATCACG CCCGGCTCTTTTTTTTTTTTTTTTTTCTCTCTGGTGGCCCAGGCTGGAGT GCAGTGGCGCAATCTTGGCTCACTGCAAGCTCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCCACCA CCACGCCAGCTAATTTTTTTTTTGTATTTTTAGTAGACACAGGGTTTTCA CCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0122 a0001c0001t0021g0122	1	386	0.0026	290	c.-16 others(301): Show c.-1631_-1630insCGCCCGCCTAGGCCTCCAAAGTGCTGGATTACAG GCGTGAGCCATCACGCCCGGCTCTTTTTTTTTTTTTTTTTTCTCTCTGGT GGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCCACCACCACGCCAGCTAATTTTTTTTTTGTATTTTTAGTA GACACAGGGTTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCT CGTGAT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1377		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92120597	G G	GCCTAGGC others(283): Show GCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCACGCCCG GCTCTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGAGTGCAGTG GCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGC CCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCACCATGTTA GCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0029 a0001c0001t0050g0029	1	386	0.0026	290	c.-16 others(301): Show c.-1625_-1624insCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCATCACGCCCGGCTCTTTTTTTTTTTTTTTTTCTCTCTGTGGCCCA GGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAG GGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCC GCCCGC	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1371		chr14	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(283): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAG GGAGGGGAGGGGGAGGGGAGGGAGAGGGGAGGGAGAGGGGAGGGGAGGGG GAGGGAGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGGTGGGGGAG GGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0031 a0001c0043t0031	a0001c0043t0031g0044 a0001c0043t0031g0044	1	16	0.0625	290	c.416 others(311): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCCCTCCCCCACCCCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCTCCCTCCCCCTCCCCTCCCCTCTCCCTCCCCTCTCCCTC CCCTCCCCCTCCCCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCC CCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCT CACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165485002	C C	CTGTGATT others(283): Show CTGTGATTATTCTGTGTCTTAATCAGTTCTGGTTACCACAACAAAATATC ATAGATTGGGAGAATTATAAACAACAGAAATTTATTTCTCACAGTTCTGG AGGATGGAGTGTACTACAGAGTGTACTACAGAATTAGATTGGTGAAAACA AACTAGAATAAAACAATTCCTTTCTCTTTCACTCAATCTCTCTCTCTCTC ACTTGCTCTCGCTCTTTCTTTCTCTTTCTGAGTCTCCTAAGCTTTGTTTA AAATTACTAAACTGTCATTTTGAATATTTTAATTCAAACTG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0044 a0001c0002t0043g0044	1	150	0.0067	290	c.-28 others(309): Show c.-282-9755_-282-9754insTGATTATTCTGTGTCTTAATCAGTTC TGGTTACCACAACAAAATATCATAGATTGGGAGAATTATAAACAACAGAA ATTTATTTCTCACAGTTCTGGAGGATGGAGTGTACTACAGAGTGTACTAC AGAATTAGATTGGTGAAAACAAACTAGAATAAAACAATTCCTTTCTCTTT CACTCAATCTCTCTCTCTCTCACTTGCTCTCGCTCTTTCTTTCTCTTTCT GAGTCTCCTAAGCTTTGTTTAAAATTACTAAACTGTCATTTTGAATATTT TAATTCAAACTGTG	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTPP1_chr11_46931761_47167247	47036037	A A	AAAAGTGG others(283): Show AAAAGTGGGATAGATATAAAGGTCACTTATCTAAGAATTTTTTTTGTCCA TGTTTTACTTTTGGAACTATGTTAATATTTCATTTACATGAGTAAGTATA TATATATTATATATGTTATTTTATATATATATTATATATTATATATTATA TATATGATATATGATATATTATAATATATTATATATGATATATTATATTA TATATTATATCATATATTATATAATATATTATATTATATATAATATTATA TATTATATAATATATAATATATATTATATTATATATTATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG03453.hp2 others(1): Show HG02615.hp1 HG02922.hp1 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 others(1): Show a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0004g0220	4	97	0.0412	290	c.150 others(309): Show c.150-16351_150-16350insAAAGTGGGATAGATATAAAGGTCACT TATCTAAGAATTTTTTTTGTCCATGTTTTACTTTTGGAACTATGTTAATA TTTCATTTACATGAGTAAGTATATATATATTATATATGTTATTTTATATA TATATTATATATTATATATTATATATATGATATATGATATATTATAATAT ATTATATATGATATATTATATTATATATTATATCATATATTATATAATAT ATTATATTATATATAATATTATATATTATATAATATATAATATATATTAT ATTATATATTATAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8			chr11	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(283): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	314	0.0032	290	c.513 others(305): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(283): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCCTCCC CCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTC CCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	16	0.0625	290	c.165 others(305): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGG GGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAG AGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAG GGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGG AGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(283): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTC CCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	16	0.0625	290	c.165 others(305): Show c.165+476_165+477insGGGAGGGGAGGGGGAGGAGGGGAGGGGAGG GGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGGAGGAG GGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAG AGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGAGGAG GGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGTGGGG AGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGTGT others(283): Show GGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	324	0.0031	290	c.-42 others(301): Show c.-4261_-4260insGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DIP2C_chr10_269201_694668	608527	C C	CCCCCACA others(283): Show CCCCCACACACACACACACACCCCCCCCACACACACACACACCCCCCCCC ACACACACACACACCCCCCCCCACACACACACACCCCCCCCACACACACA CCCCCCCCACACACACACCCCCCCCACACACACACACCCCCCCACACACA CACACCCCCCCACACACACACACCCCCCCCCCACACACACACACATCCCC CCCCACACACACACACATCCCCCCCCACACACACACATCCCCCCCCACAC ACACACACATCCCCCCCACACACACACACATCCCCCCCACA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	61	0.0164	290	c.85+ others(307): Show c.85+80966_85+80967insTGTGGGGGGGATGTGTGTGTGTGTGGGG GGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTG TGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGGGTGTGTGTGT GTGGGGGGGTGTGTGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGGGTGTG TGTGTGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGGG TGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGGGGGGTGTGTGT GTGTGTGTGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAAF3_chr19_55153665_55171613	55155935	C C	CCTGGACT others(283): Show CCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGG TCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGG GGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTG AGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCT GGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0065 a0002c0003t0001g0065	1	317	0.0032	290	c.31 others(301): Show c.3126_*3127insTCCCCAGCCCCTCCTCCCTGAGACCCTGAAGTCC AGGCCCCAGCCCCTCCTCCCTCAGACCCTGGAGTCCAGGCCCCAGCCCCT CCTCCCTCAGACCCTGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGTCCCCAGCCCCTCCTCCCTCAGACCCTGGAATCGAGGCC CTCAGCCCCTCCTCCCTCAGACCCTGAAGTCCAGGCCCCAGCCCCTCCTC CCTCAGACCCTGAAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCTGGA GTCCAG	DNAAF3	ENSG00000167646.14	transcript	ENST00000524407.7	protein_coding		2729		chr19	TogoVar
DNAH10_chr12_123757301_123940714	123886700	T T	TGCAATGA others(283): Show TGCAATGAAAGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCATGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0010 a0010	a0010c0084 a0010c0084	a0010c0084t0002 a0010c0084t0002	a0010c0084t0002g0104 a0010c0084t0002g0104	1	166	0.0060	290	c.882 others(307): Show c.8824-428_8824-427insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCATGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTT TTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAGC AATGAAAGTTTT	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	51/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21640508	C C	CTTTTTTT others(283): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGTGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCAGCATTCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0133 a0133	a0133c0076 a0133c0076	a0133c0076t0004 a0133c0076t0004	a0133c0076t0004g0084 a0133c0076t0004g0084	1	281	0.0036	290	c.494 others(309): Show c.4944+1448_4944+1449insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCGCGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG CAGCATTCTTTTTT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	28/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(283): Show TCACCACCACCTCCACCACCACCAGCATCTTCACCACCACCACCACCTCC CCCACTACCAACAGCTCCTTCACCATCACACAATATCCACCACCACCATC ACCACCACCTCCACCATCACCTCCACCACCACCACCTCCTCCACCATCAC CATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCTCCT CCATCACCACCACCATCTTCACCATCACCACCACCTCCACCATCACCACC TCCTCCATCACCACCACCATCTTCACCATCACCACCACCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0004 a0004c0038t0004	a0004c0038t0004g0056 a0004c0038t0004g0056	1	166	0.0060	290	c.323 others(309): Show c.3234+1573_3234+1574insCCACCTCCACCACCACCAGCATCTTC ACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACACA ATATCCACCACCACCATCACCACCACCTCCACCATCACCTCCACCACCAC CACCTCCTCCACCATCACCATCACCACCACCTCCACTATCACCACCACCT CCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619751	G G	GCCCCCCT others(283): Show GCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCGCTT TCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGGTCCCCCTGCT CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCTCTGCTCCCCTCCCTG TAGCTCCCTGCAGCCCCCTGCTCCCCTCCCTGCACCCCTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	247	0.0040	290	c.-10 others(309): Show c.-107+6032_-107+6033insCCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT GCTCCCCTCTCTGCAGCCCGCTTTCCCCCTGCTCCCCCCGCTCCCCTCCC TGCAGCCCCCTGGTCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCTCCCTCTGCTCCCCTCCCTGTAGCTCCCTGCAGCCCCCTGCTCCCCT CCCTGCACCCCTTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPH7_chr9_137549444_137583925	137567402	T T	TCTGTCTG others(283): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCCGTGAG GAAGCTCCCCGGGGTGACTCTGTCCGTGAGGAAGCTCCCCTGGGTGACTC TGTCCGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	335	0.0030	290	c.641 others(307): Show c.641-2249_641-2248insTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTCAC AGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGC TTCCTCACGGACAGAGTCACCCAGGGGAGCTTCCTCACGGACAGAGTCAC CCCGGGGAGCTTCCTCACGGACAGAGTCACCCAGGGGAGCTTCCTCACAG ACAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTT CCTCACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(283): Show ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATATAGTGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATGTATATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATATAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0018 a0001c0020t0018	a0001c0020t0018g0106 a0001c0020t0018g0106	1	172	0.0058	290	c.355 others(309): Show c.355-25607_355-25606insGTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATGTAT ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(283): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGT GTAAATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0363 a0001c0001t0004g0363	1	3	0.3333	290	c.477 others(309): Show c.477+47644_477+47645insATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCT GTGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATATGTGTAAATATACCTATGTATTTACACATATATATGTAA ATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DUSP8_chr11_1549051_1577271	1551118	T T	TCCATCCA others(283): Show TCCATCCACCCACCCGCCCACCCCACTCATCCTCTACCCATTCATTCATC TGCCCATCCATCCATCCATCCACCCACCCACCCCACTCATCCTCTACCCA TTCATCCATCTGCCCATCCATCCATCCATCCACCCACCCATCCACCCCAC TCATCCCTCTACCCATTCATCATCTGCCTATCCATCCATCCAACCACCCA CCCCACTCATCCCTCTACCCATTCATCCATTTGCTCATCCATCCATCCAC CCACCCACCCCACTCATCCCTCTACCCATTCATCCATCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0114 a0001c0001t0024g0114	1	182	0.0055	290	c.53 others(301): Show c.5399_*5400insGCAGATGGATGAATGGGTAGAGGGATGAGTGGGG TGGGTGGGTGGATGGATGGATGAGCAAATGGATGAATGGGTAGAGGGATG AGTGGGGTGGGTGGTTGGATGGATGGATAGGCAGATGATGAATGGGTAGA GGGATGAGTGGGGTGGATGGGTGGGTGGATGGATGGATGGATGGGCAGAT GGATGAATGGGTAGAGGATGAGTGGGGTGGGTGGGTGGATGGATGGATGG ATGGGCAGATGAATGAATGGGTAGAGGATGAGTGGGGTGGGCGGGTGGGT GGATGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2932		chr11	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(283): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02897.hp1 HG02698.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0111 a0001c0001t0001g0059 a0001c0001t0001g0111	2	377	0.0053	290	c.83+ others(303): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGCATTT AAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPHA3_chr3_89102621_89487134	89435089	T T	TAAAACGC others(283): Show TAAAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG CAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0071 a0002c0005t0005g0071	1	191	0.0052	290	c.234 others(309): Show c.2346+3734_2346+3735insCGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAA AACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGCAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr3	TogoVar

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