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
TECTA_chr11_121096243_121196490	121185537	C C	CGAGTAGG others(168): Show CGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTA ATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTCAATGCTTAATGAAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0165 a0001c0005t0001g0165	1	348	0.0029	175	c.600 others(194): Show c.6000-2275_6000-2274insCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185607	T T	TGAGTAGG others(168): Show TGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCA GATATTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTA ATGAACGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTCAATGCTTAATGAAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03209.hp2 HG02896.hp1 HG03209.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0320 a0003c0004t0002g0321 a0003c0004t0002g0320 a0003c0004t0002g0321	2	348	0.0058	175	c.600 others(194): Show c.6000-2205_6000-2204insGAATGCTTAATGAATGAGTAGGGAAA GCAGATATTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAACGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAACGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TECTA_chr11_121096243_121196490	121185803	C C	CAGTGCTT others(168): Show CAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0014 a0001c0005t0002g0014	1	348	0.0029	175	c.600 others(194): Show c.6000-2028_6000-2027insGTGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTT AATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TFDP1_chr13_113579753_113646473	113625653	C C	CGTCTCTC others(168): Show CGTCTCTCAGGCGTCTCTCACATGTCTTCAGGCGTCTCTCACATGTCTTC AGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGTCT CTCACGTGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCACGCGTCCT CAGGTGTCTCTCACGCGTCCTCAGGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	348	0.0029	175	c.186 others(192): Show c.186+2375_186+2376insGGCGTCTCTCACATGTCTTCAGGCGTCT CTCACATGTCTTCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTG TCCTCAGGCGTCTCTCACGTGTCCTCAGGTGTCTCACGCGTCCTCAGGTG TCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCA	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625720	C C	CCTCAGGC others(168): Show CCTCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGT GTCTCACGCGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCTCACGCG TCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACATGTCCTCAGG TGTCTCTCACGTGTCCTCAGGTGTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	348	0.0029	175	c.186 others(192): Show c.186+2434_186+2435insCTCAGGCGTCTCTCACGTGTCCTCAGGC GTCTCTCACGTGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCACGCG TCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCAGG TGTCTCTCACATGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTT	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11			chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625728	G G	GTCTCTCA others(168): Show GTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGTGTCTCACG CGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCAGG TGTCTCTCACGCGTCCTCAGGTGTCTCTCACATGTCCTCAGGTGTCTCTC ACGTGTCCTCAGGTGTTTCTCAGGCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp1 HG03540.hp2 HG02055.hp2 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0271 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0271	3	348	0.0086	175	c.186 others(192): Show c.186+2482_186+2483insTGTCTCACGCGTCCTCAGGTGTCTCACG CGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCA GGTGTCTCTCACATGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTC TCAGGCATCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625741	C C	CCTCAGGC others(168): Show CCTCAGGCATCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGT GTCTCACGCGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCTCACGCG TCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACATGTCCTCAGG TGTCTCTCACGTGTCCTCAGGTGTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	348	0.0029	175	c.186 others(192): Show c.186+2462_186+2463insATCTCTCACGTGTCCTCAGGCGTCTCTC ACGTGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCACGCGTCCTCAG GTGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCT CACATGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGGC	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625741	C C	CCTCAGGC others(168): Show CCTCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGT GTCTCACGCGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCTCACGCG TCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACATGTCCTCAGG TGTCTCTCACGTGTCCTCAGGTGTTT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	348	0.0029	175	c.186 others(192): Show c.186+2503_186+2504insTGTCTCACGCGTCCTCAGGTGTCTCACG CGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCA GGTGTCTCTCACATGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTC TCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
THBS3_chr1_155190588_155212897	155190952	G G	GCCGAGGT others(168): Show GCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGGTGACACCGTGGGCTGCGGGCGC GGGTGGAGCCCGGGGCCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	175	c.48 others(186): Show c.4888_*4889insGAGCAGGCCGGCCCCGGGCTCCACCCGCGCCCGC AGCCCACGGTGTCACCCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCC ACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGC CCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGG	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4635		chr1	TogoVar
TMEM120A_chr7_75981831_75999595	75988765	A A	AGAAGGCC others(168): Show AGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGG GGAAGGCCGGGTGGGGGGGTGGAGGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	368	0.0027	175	c.378 others(190): Show c.378-250_378-249insCCCTCCACCCCCCCACCCGGCCTTCCCCTC CACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTC CACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTC CACCCCCCCACCCGGCCTTCTCCTCCACCCCCCTACCCGGCCTTC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988782	G G	GGTGGAGG others(168): Show GGTGGAGGAGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGG GGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGG GGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGG TGTGGAGGGGAAGGCGGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	368	0.0027	175	c.378 others(190): Show c.378-267_378-266insACCCCCTCCCCGCCTTCCCCTCCACACCCC CTCCCCGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACCCCCC CACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCC CACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCTCCTCCAC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM120A_chr7_75981831_75999595	75988980	G G	GGGGTGGA others(168): Show GGGGTGGAGGGGAAGGCCGGGTGGGGTGGGGGGTGGAGGGGAAGGCCGGG TGGGGGGGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGG TGGGTGTGTGGAGGGGAAGGCCGGGTGGGTGTGTGGAGGGGAAGGCCGGG TGGGTGTGTGGAGGGGAAGGCCGGGT	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	368	0.0027	175	c.377 others(190): Show c.377+184_377+185insACCCGGCCTTCCCCTCCACACACCCACCCG GCCTTCCCCTCCACACACCCACCCGGCCTTCCCCTCCACACACCCACCCG GCCTTCCCCTCCACACACCCACCCGGCCTTCCCCTCCACCCCCCCACCCG GCCTTCCCCTCCACCCCCCACCCCACCCGGCCTTCCCCTCCACCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM132D_chr12_129066726_129909025	129088964	C C	CTGACCGG others(168): Show CTGACCGGGGCTCCTCCATGACCGGGGCTCCTCCATGACCGGGGTGTCCT CCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGT CCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCCTGACCGGGT GTCCTCCATGACCGGGGTGTCCTCCA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03834.hp2 HG01433.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0058 a0001c0001t0002g0039 a0001c0001t0002g0058	2	94	0.0213	175	c.144 others(194): Show c.1444-4263_1444-4262insTGGAGGACACCCCGGTCATGGAGGAC ACCCGGTCAGGGAGGACACCCCGGTCAGGGAGGACACCCGGTCATGGAGG ACACCCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGG AGGACACCCCGGTCATGGAGGAGCCCCGGTCATGGAGGAGCCCCGGTCA	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(168): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	94	0.0106	175	c.129 others(196): Show c.1299+34323_1299+34497dupCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC T	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129855385	A A	AGGGGAAC others(168): Show AGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGCTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACAGAGTCCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0064 a0001c0010t0005g0064	1	94	0.0106	175	c.79+ others(192): Show c.79+47875_79+47876insCGGACTCTGTTACAAGGGCACCCATCCC GTTCCCCCGGACTCCGTTACAAGGGCAGCCATCCCGTTCCCCCGGACTCC GTTACAAGGGCACCCATCCCGTTCCCCCGGACTCCGTTACAAGGGCACCC ATCCCGTTCCCCCGGACTCCGTTACAAGGGCACCCATCCCGTTCCCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM240_chr1_1529778_1545624	1543677	A A	ACTGTCAC others(168): Show ACTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCCCC TCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCCCC TCTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCCCC ACTGTCACGGCCTCGGCCACTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	428	0.0023	175	c.-33 others(186): Show c.-3332_-3331insAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAG	TMEM240	ENSG00000205090.10	transcript	ENST00000378733.9	protein_coding		3054		chr1	TogoVar
TMEM240_chr1_1529778_1545624	1543677	A A	ACTGTCAC others(168): Show ACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCCCC ACTGTCACGGCCTCGGCCACTCCCCTCTGTCACGGCCTCGGCCACTCCCC TCTGTCACGGCCTCGGCCACTCCCCACTGTCACGGCCTCGGCCACTCCCC ACTGTCACGGCCTCGGCCACTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	175	c.-33 others(186): Show c.-3332_-3331insAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGTGGGGAGTGGCCGAGGCCGTGACAGAGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAGTGGGGAGTG GCCGAGGCCGTGACAGAGGGGAGTGGCCGAGGCCGTGACAG	TMEM240	ENSG00000205090.10	transcript	ENST00000378733.9	protein_coding		3054		chr1	TogoVar
TP73_chr1_3647516_3741201	3693758	A A	ACAATCCC others(168): Show ACAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCCACCCATG CAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTC CTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAG CCCTGCAGCCTCAGCCCCTCCTCCCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG01884.hp1 HG02572.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0008 a0001c0006 a0002c0008	a0001c0006t0011 a0002c0008t0019 a0001c0006t0011 a0002c0008t0019	a0001c0006t0011g0078 a0002c0008t0019g0196 a0001c0006t0011g0078 a0002c0008t0019g0196	2	358	0.0056	175	c.186 others(194): Show c.186+10586_186+10587insGCCCTGCAGCCTCAGCTCCTCCTCCC ACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTG CAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTC CTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCA	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3693758	A A	ACAATCCC others(168): Show ACAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCCAGCCCTG CAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTC CTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAG CCCTGCAGCCTCAGCCCCTCCTCCTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 NA20300.hp2 HG02647.hp1 HG02818.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0042 a0001c0001t0001 a0001c0001t0015 a0001c0001t0042	a0001c0001t0001g0028 a0001c0001t0015g0001 a0001c0001t0042g0010 a0001c0001t0001g0028 a0001c0001t0015g0001 a0001c0001t0042g0010	3	358	0.0084	175	c.186 others(194): Show c.186+10586_186+10587insGCCCTGCAGCCTCAGCTCCTCCTCCC ACAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCCTG CAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTC CTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCA	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694096	A A	AGCCCCTC others(168): Show AGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGC AATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCA GCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCT CCCGCAATCCCACCCATGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	358	0.0028	175	c.186 others(194): Show c.186+10940_186+10941insCTGCAGCCTCCGCCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCACCCATGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694484	A A	AGCCCCTC others(168): Show AGCCCCTCCTCCCACAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCTGC AATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCA GCCTCCGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCT CCCGCAATCCCAGCCCTGCAGCCTCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	358	0.0028	175	c.186 others(194): Show c.186+11316_186+11317insACAATCCCAGCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATC CCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCT CCGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694707	G G	GCAATCCC others(168): Show GCAATCCCACCATGCATCTTCAGCCCCTCCTCCTGCAATCCCAGCCCTGC AGCCTCAGCCCCATCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTC CTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCACAATCCCAG CCCTGCAGCCTCAGCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0151 a0001c0001t0016g0151	1	358	0.0028	175	c.186 others(194): Show c.186+11535_186+11536insCCATGCATCTTCAGCCCCTCCTCCTG CAATCCCAGCCCTGCAGCCTCAGCCCCATCCTCCTGCAATCCCAGCCCTG CAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTC CTCCCACAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCACAATCCCA	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPD52L1_chr6_125148773_125269407	125172542	A A	ATATACAT others(168): Show ATATACATACACACACACACACATACATATACACACTATATATATACTAT ATATATATACTATATATACTATATATATATACTATATATATACTATATAT ATATACTATATATACTATATATATATACTATATATATACTATATATATAT ACTATATATATACTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02818.hp2 HG00741.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0237 a0001c0001t0002g0238	2	320	0.0063	175	c.19+ others(192): Show c.19+18576_19+18577insCATACACACACACACACATACATATACA CACTATATATATACTATATATATATACTATATATACTATATATATATACT ATATATATACTATATATATATACTATATATACTATATATATATACTATAT ATATACTATATATATATACTATATATATACTATATATATATACTATA	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPPP_chr5_654862_698352	691674	A A	ACCCATCA others(168): Show ACCCATCAAAACAATAGCCCCCAACCCCCATCAAAACAGCAGCCCCCTAA ACCCCATCAAAACAGCAGCCCCCAAATACCCATCAAAACAGCCCCCAACC CTCATCAAAACAGCAGCCCTCAACCCCCATCAAAACAGCAGCCCCCAAAC CCCCATCAAAACAGCAGCCCCCAACC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0190 a0001c0003t0039g0190	1	409	0.0024	175	c.-5+ others(190): Show c.-5+1603_-5+1604insGGTTGGGGGCTGCTGTTTTGATGGGGGTTT GGGGGCTGCTGTTTTGATGGGGGTTGAGGGCTGCTGTTTTGATGAGGGTT GGGGGCTGTTTTGATGGGTATTTGGGGGCTGCTGTTTTGATGGGGTTTAG GGGGCTGCTGTTTTGATGGGGGTTGGGGGCTATTGTTTTGATGGG	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TRIM16_chr17_15622966_15689311	15637352	G G	GTCAGCCC others(168): Show GTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCTCCGCCCGGCCAGCCGCCCCATCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCC ACCCCGTCCGGGAGGGAGATGGGGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG06807.hp1 NA18522.hp2 others(2): Show HG01884.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA20300.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0008 a0003c0008t0008	a0003c0008t0008g0001 a0003c0008t0008g0188 a0003c0008t0008g0001 a0003c0008t0008g0188	5	360	0.0139	175	c.616 others(192): Show c.616-1084_616-1083insGCCCCCATCTCCCTCCCGGACGGGGTGG CTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGATGGGGCGGCTGGCCGGGCGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGA	TRIM16	ENSG00000221926.13	transcript	ENST00000649191.2	protein_coding	8/11			chr17	TogoVar
TRIM46_chr1_155168849_155189970	155189147	C C	CTGGGGGG others(168): Show CTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG ACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGG GGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCC TGCTCTCCGGGGCCGAGGTGACACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	348	0.0029	175	c.49 others(186): Show c.4957_*4958insTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTG TCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGC CGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCG	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4178		chr1	TogoVar
TRPM4_chr19_49152792_49216836	49167773	C C	CGTCTCTC others(168): Show CGTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCGCCATCTC TCTGGGTCTCTGTCCCATCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGT CTCTGTCCCCCTCTCTCTGGGTCTTTGTCCCCGTCTCTCTGGGTCTCTGT CCCCATCCCTCTGGGTCTCTGTCCCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0042 a0019c0019t0001g0042	1	312	0.0032	175	c.268 others(190): Show c.268-144_268-143insGTCTCTCTGGGTCTCTGTCCCTCTCTCTCT GGGTCTCTGTCGCCATCTCTCTGGGTCTCTGTCCCATCTCTCTGGGTCTC TGTCCCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTTTGTCCC CGTCTCTCTGGGTCTCTGTCCCCATCCCTCTGGGTCTCTGTCCCT	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24			chr19	TogoVar
TSNARE1_chr8_142207080_142408182	142226969	G G	GGCAGTAA others(168): Show GGCAGTAATAGCCAGGCCCCCCACTGCACCCACACAGCAGTGACAGCAAG GCCCCCCACTGCACCCACACAGCAGTGACAGCCAAGCCCCCCACTGCACC CACACAGCAGTGACAGCCAGGACCACCACTGCACCCACACGGCAGTAATA GCCAGGCCCCCCACTGCACCCACACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0130 a0004c0004t0001g0130	1	238	0.0042	175	c.11 others(192): Show c.11+2503_*11+2504insTGTGTGGGTGCAGTGGGGGGCCTGGCTA TTACTGCCGTGTGGGTGCAGTGGTGGTCCTGGCTGTCACTGCTGTGTGGG TGCAGTGGGGGGCTTGGCTGTCACTGCTGTGTGGGTGCAGTGGGGGGCCT TGCTGTCACTGCTGTGTGGGTGCAGTGGGGGGCCTGGCTATTACTGC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142226969	G G	GGCAGTAA others(168): Show GGCAGTAATAGCCAGGCCCCCCACTGCACCCACACAGCAGTGACAGCAAG GCCCCCCACTGCACCCACACAGCAGTGACAGCCAAGCCCCCCACTGCACC CACACAGCAGTGACAGCCAGGCCCCCCACTGCACCCACACAGCAGTGACA GCCAAGCCCCCCACTGCACCCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(20): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp1 HG01168.hp2 HG01943.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp1 HG02523.hp1 HG03688.hp2 NA18947.hp2 NA18949.hp2 NA18954.hp1 NA18963.hp2 NA18970.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0009 a0007c0007 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0005c0009t0002 a0007c0007t0002 a0009c0019t0002	a0001c0001t0001g0024 a0001c0001t0001g0220 a0001c0001t0002g0021 others(20): Show a0001c0001t0001g0024 a0001c0001t0001g0220 a0001c0001t0002g0021 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0232 a0002c0002t0001g0194 a0002c0002t0002g0203 a0003c0003t0001g0109 a0003c0003t0002g0011 a0003c0003t0002g0111 a0003c0003t0003g0099 a0005c0009t0002g0234 a0005c0009t0002g0235 a0007c0007t0002g0003 a0007c0007t0002g0043 a0007c0007t0002g0045 a0007c0007t0002g0046 a0007c0007t0002g0047 a0007c0007t0002g0053 a0007c0007t0002g0230 a0009c0019t0002g0116	23	238	0.0966	175	c.11 others(192): Show c.11+2503_*11+2504insTGTGTGGGTGCAGTGGGGGGCTTGGCTG TCACTGCTGTGTGGGTGCAGTGGGGGGCCTGGCTGTCACTGCTGTGTGGG TGCAGTGGGGGGCTTGGCTGTCACTGCTGTGTGGGTGCAGTGGGGGGCCT TGCTGTCACTGCTGTGTGGGTGCAGTGGGGGGCCTGGCTATTACTGC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870176	C C	CCACACAC others(168): Show CCACACACACCACACCCCATACACACCACACACCCCACACACCACACACA CACATCACATACCACACACACATCACATACCACACACACACCACACACAC ACCACACACCCCACACCCCACACACACATCACACACCACACACACCACAC ACACCCCACACACACCACACACCCCA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	338	0.0030	175	c.35 others(194): Show c.35+21452_*35+21453insCACACCCCATACACACCACACACCCC ACACACCACACACACACATCACATACCACACACACATCACATACCACACA CACACCACACACACACCACACACCCCACACCCCACACACACATCACACAC CACACACACCACACACACCCCACACACACCACACACCCCACACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870330	A A	ACACCCCA others(168): Show ACACCCCACACACACACCACACCCCATACACACCACACACACACACACCA CACACCACACACACCACACACACCACACACCCCCACACATCACATACCAC ACACACACCACACCCCATACACACCACACACACCACACACACCACACCCC ACACACACCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	338	0.0030	175	c.35 others(194): Show c.35+21600_*35+21601insCCCACACACACACCACACCCCATACA CACCACACACACACACACCACACACCACACACACCACACACACCACACAC CCCCACACATCACATACCACACACACACCACACCCCATACACACCACACA CACCACACACACCACACCCCACACACACCACACACCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
USH2A_chr1_215617891_216428448	215836498	A A	ATATAATA others(168): Show ATATAATATATATATATTATATATATATAATATATATATATTATATATAT ATATAATATATATATATTATATATATATATAATATATATATATTATATAT ATATAATATATATATATATAATATATATATATTATATATATATATAATAT ATATATATTATATATATATAATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0040 a0040	a0040c0046 a0040c0046	a0040c0046t0004 a0040c0046t0004	a0040c0046t0004g0016 a0040c0046t0004g0016	1	74	0.0135	175	c.937 others(194): Show c.9371+1492_9371+1493insATATATTATATATATATAATATATAT ATATTATATATATATATAATATATATATATTATATATATATATATTATAT ATATATAATATATATATATTATATATATATATAATATATATATATTATAT ATATATATAATATATATATATTATATATATATAATATATATATATTATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71			chr1	TogoVar
VCX3A_chrX_6528618_6540118	6533125	C C	CCCCCCTC others(168): Show CCCCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCC CTCCCCACACACCTCCTCTTCCCCCCCTCCCTCCCCACACACCACCTCTT CCTCCCTCCCTCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0022 a0022	a0022c0022 a0022c0022	a0022c0022t0003 a0022c0022t0003	a0022c0022t0003g0031 a0022c0022t0003g0031	1	74	0.0135	175	c.61 others(184): Show c.619_*620insAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		492		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466895	A A	AGAGGTGT others(168): Show AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	271	0.0037	175	c.51 others(184): Show c.512_*513insGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGT GTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAGA GGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		386		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467125	G G	GGGGGGGG others(168): Show GGGGGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGG AGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGTGGGA GGGAGGAAGAGGTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0031 a0031	a0031c0101 a0031c0101	a0031c0101t0003 a0031c0101t0003	a0031c0101t0003g0040 a0031c0101t0003g0040	1	271	0.0037	175	c.74 others(184): Show c.742_*743insGGGGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGTGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		616		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(168): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0068 a0006c0007t0001g0068	1	274	0.0037	175	c.200 others(192): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(168): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0001 a0003c0037t0001	a0003c0037t0001g0067 a0003c0037t0001g0067	1	274	0.0037	175	c.200 others(192): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895635	C C	CTCCTCCT others(168): Show CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC CTCCTCCCCCCTCCTCCTCCCCCCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0016 a0004c0008t0006g0016	1	274	0.0037	175	c.200 others(192): Show c.2004+710_2004+711insTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCT	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47			chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(168): Show ATCATATATATATCATATATCATATATATCATATATATATCATATATCAT ATATATCATATATGATACATATATATATGATACATGTATCATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	340	0.0029	175	c.856 others(192): Show c.856+1989_856+1990insATATCATATATCATATATATCATATATA TATCATATATCATATATATCATATATGATACATATATATATGATACATGT ATCATATATGATACATATATATCATATATATGATACATATATATCATATA TATGATACATATATATCTCATATATGATACATATATATCTCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(168): Show ATCATATATATATCATATATCATATATATCATATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATGTATATCATATATATGATA CATGTATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00735.hp1 HG01261.hp2 others(12): Show HG00423.hp2 HG00735.hp1 HG01261.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02132.hp1 HG02523.hp2 HG03490.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp2 NA18747.hp2 NA18973.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0051 others(12): Show a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0293 a0001c0001t0001g0299	15	340	0.0441	175	c.856 others(192): Show c.856+1989_856+1990insATATCATATATCATATATATCATATATG ATACATATATCATATATATGATACATGTATCATATATGATACATGTATAT CATATATATGATACATGTATATCATATATATGATACATATATATCATATA TATGATACATATATATCATATATATGATACATATATATCTCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(168): Show ATCATATATGATACATATATCATATATATCACATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18969.hp2 NA18989.hp2 others(3): Show NA18955.hp1 NA18969.hp2 NA18989.hp2 NA18991.hp1 NA18999.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0173 a0001c0001t0002g0175 others(2): Show a0001c0001t0002g0004 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0236 a0001c0001t0002g0237	6	340	0.0177	175	c.856 others(192): Show c.856+2000_856+2001insCATATATATCACATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(168): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00642.hp2 others(25): Show HG00558.hp1 HG00597.hp2 HG00642.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01515.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02300.hp1 HG02683.hp2 HG03654.hp1 HG03710.hp1 HG04199.hp2 NA18940.hp1 NA18966.hp2 NA18970.hp2 NA18986.hp1 NA18994.hp2 NA19001.hp2 NA19004.hp1 NA19074.hp2 NA19075.hp2 NA19084.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0005c0007 a0008c0006 a0001c0001 a0005c0007 a0008c0006	a0001c0001t0002 a0001c0001t0006 a0005c0007t0002 others(1): Show a0001c0001t0002 a0001c0001t0006 a0005c0007t0002 a0008c0006t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0038 others(23): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0038 a0001c0001t0002g0171 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0006g0206 a0005c0007t0002g0221 a0008c0006t0002g0169	28	340	0.0824	175	c.856 others(192): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(168): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATATGTATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	340	0.0029	175	c.856 others(192): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATGTATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(168): Show ATCATATATGATACATATATCATATATATCATATATGATACATGTATCAT ATATATGATACATGTATCATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0168 a0001c0001t0002g0002 a0001c0001t0002g0168	3	340	0.0088	175	c.856 others(192): Show c.856+2000_856+2001insCATATATATCATATATGATACATGTATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCTCATATATGATACATATATATCTCATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(168): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATGATACATGTATCATATATGATACATATATATCATATATATGATACA TATGTATCATATATATGATACATATGTATCATATATATGATACATATGTA TCATATATATGATACATATGTATCAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG03927.hp1 others(1): Show HG00558.hp2 HG00621.hp2 HG03927.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0103 a0002c0002t0002g0159 others(1): Show a0002c0002t0002g0089 a0002c0002t0002g0103 a0002c0002t0002g0159 a0002c0002t0002g0285	4	340	0.0118	175	c.856 others(192): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATGTATCATATATATGATACATATGTATCATATATATGATACATA TGTATCATATATATGATACATATGTATCATATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(168): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATGATACATGTATCATATATGATACATATGTATCATATATATGATACA TATGTATCATATATATGATACATATGTATCATATATATGATACATATGTA TCATATATATGATACATATGTATCAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	340	0.0029	175	c.856 others(192): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATGTATCATATATATGA TACATATGTATCATATATATGATACATATGTATCATATATATGATACATA TGTATCATATATATGATACATATGTATCATATATATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR20_chr14_102134897_102215527	102189055	C C	CAAAAAAT others(168): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG03688.hp1 others(11): Show HG00423.hp2 HG00438.hp2 HG03688.hp1 NA18612.hp2 NA18747.hp1 NA18949.hp2 NA18951.hp1 NA18990.hp1 NA19010.hp1 NA19054.hp2 NA19060.hp2 NA19067.hp2 NA19074.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0002t0002 a0003c0005t0002 a0001c0001t0001 a0001c0002t0002 a0003c0005t0002	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0002t0002g0149 others(11): Show a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0162 a0003c0005t0002g0161	14	264	0.0530	175	c.250 others(192): Show c.250-5878_250-5877insATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR87_chr19_37879823_37911594	37880983	C C	CTATATAT others(168): Show CTATATATATATATATTATATATATATATAATATATATATATATTATATA TATATATAATATATATATATATTATATATATATATATAATATATATATAT ATTATATATATATATAATATATATATTATATATATATATTATATATATAT AATATATATTATATATATATAATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	330	0.0030	175	c.39 others(186): Show c.3948_*3949insTATATTATATATATATAATATATATTATATATAT ATAATATATATATATAATATATATATTATATATATATATAATATATATAT ATATTATATATATATATATAATATATATATATATTATATATATATATAAT ATATATATATATTATATATATATATAATATATATATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3839		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881039	A A	ATATATAT others(168): Show ATATATATAATATATATAATATATATATAATATATATATATTATATATAT ATTATATATATTATATATATAATATATATAATATATATATTATATATATA ATATATATATTTAATATATATATTATATATATAATATATATATTTAATAT ATATATTATATATATAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0177 a0005c0005t0003g0177	1	330	0.0030	175	c.38 others(186): Show c.3892_*3893insATATATATATTATATATATAATATATATATTAAA TATATATATTATATATATAATATATATATTAAATATATATATTATATATA TAATATATATATTATATATATTATATATATAATATATATAATATATATAT AATATATATATATTATATATATATTATATATATTATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3783		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(168): Show ATATATAATATATATATATATTATATATATATAATATATATATTATATAT ATATTATATATATATAATATATATTATATATATATAATATATATATAATA TATATATTATATATATAATATATATATTATATATATATAATATATATATA TAATATATATATAATATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	330	0.0030	175	c.38 others(186): Show c.3884_*3885insATTATATATATATTATATATATATTATATATATA TATTATATATATATAATATATATATTATATATATAATATATATATTATAT ATATATTATATATATATAATATATATTATATATATATAATATATATATAA TATATATATTATATATATATAATATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar

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