Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TRPC4AP_chr20_34997404_35097807	35097452	T T	TATACACG others(173): Show TATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACA CGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTG CGTATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	334	0.0030	180	c.-46 others(191): Show c.-4672_-4671insGTATATATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATACGCAC GCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGT ATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTAT		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4646		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097554	C C	CACATATA others(173): Show CACATATACATATACACGCGTGTATATATACACATATACATATACACGCG TGCGTGTATATACATATACACGCGTGCGTGTATATACATATACACGCGTG CGTGTATATACATATACACGCGTGCGTGTATATACATATACACGCGTGCG TGTATATACATATACACGCGTGCGTGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	334	0.0030	180	c.-47 others(191): Show c.-4774_-4773insATATACACGCACGCGTGTATATGTATATACACGC ACGCGTGTATATGTATATACACGCACGCGTGTATATGTATATACACGCAC GCGTGTATATGTATATACACGCACGCGTGTATATGTATATACACGCACGC GTGTATATGTATATGTGTATATATACACGCGTGTATATGTATATGT		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4748		chr20	TogoVar
TSEN34_chr19_54186308_54199532	54188014	T T	TAAGAAAG others(173): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0012	1	431	0.0023	180	c.-33 others(191): Show c.-3351_-3350insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		TSEN34	ENSG00000170892.13	transcript	ENST00000396388.3	protein_coding					3293		chr19	TogoVar
TSNARE1_chr8_142207080_142408182	142357926	G G	GGCCAGCG others(173): Show GGCCAGCGGCCATCACTGCAAAGGGCGGCGGGGTCTGCTGGGTTTCAGGA CAAGGGGAGCAGCCAGCGGCCATCACTGCAAAGGGCGGCGGGGTCTGCTG GGTTTCAGGACAAGGGGAGCAGCCAGCGGCCATCACTGCAAAGGGCGGCG GGGTCTGCTGGGTTTCAGGACAAGGGGAGCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0131 a0004c0004t0001g0131	1	238	0.0042	180	c.-39 others(197): Show c.-39-3164_-39-3163insTGCTCCCCTTGTCCTGAAACCCAGCAGA CCCCGCCGCCCTTTGCAGTGATGGCCGCTGGCTGCTCCCCTTGTCCTGAA ACCCAGCAGACCCCGCCGCCCTTTGCAGTGATGGCCGCTGGCTGCTCCCC TTGTCCTGAAACCCAGCAGACCCCGCCGCCCTTTGCAGTGATGGCCGCTG GC		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TTN_chr2_178520989_178812423	178757146	A A	ATGCTTTA others(173): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGTACAGTAAGTAATACTGTACT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02735.hp2 HG02896.hp2 others(1): Show HG01978.hp2 HG02735.hp2 HG02896.hp2 HG02922.hp1	a0007 a0060 a0097 others(1): Show a0007 a0060 a0097 a0105	a0007c0141 a0060c0130 a0097c0151 others(1): Show a0007c0141 a0060c0130 a0097c0151 a0105c0142	a0007c0141t0002 a0060c0130t0002 a0097c0151t0002 others(1): Show a0007c0141t0002 a0060c0130t0002 a0097c0151t0002 a0105c0142t0002	a0007c0141t0002g0099 a0060c0130t0002g0103 a0097c0151t0002g0084 others(1): Show a0007c0141t0002g0099 a0060c0130t0002g0103 a0097c0151t0002g0084 a0105c0142t0002g0080	4	242	0.0165	180	c.106 others(199): Show c.10679-350_10679-349insAGTACAGTATTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTA CTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACA GTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAA AGCA		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178520989_178812423	178757148	G G	GCTTTAAG others(173): Show GCTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAA TACTGTACTTACTTTAAGTACAGCAAGTAATACTGTACTTACTTTAAGTA CAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTT ACTTTAAGTACAGTAAGTAATACTGTACTTA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0137 a0137	a0137c0097 a0137c0097	a0137c0097t0001 a0137c0097t0001	a0137c0097t0001g0164 a0137c0097t0001g0164	1	242	0.0041	180	c.106 others(199): Show c.10679-352_10679-351insTAAGTACAGTATTACTTACTGTACTT AAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACT TACTGTACTTAAAGTAAGTACAGTATTACTTGCTGTACTTAAAGTAAGTA CAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTT AAAG		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178520989_178812423	178757148	G G	GCTTTAAG others(173): Show GCTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAA TACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTA CAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTT ACTTTAAGTACAGTAAGTAATACTGTACTTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG04228.hp1 HG02965.hp2 HG04228.hp1	a0009 a0108 a0009 a0108	a0009c0095 a0108c0156 a0009c0095 a0108c0156	a0009c0095t0007 a0108c0156t0001 a0009c0095t0007 a0108c0156t0001	a0009c0095t0007g0166 a0108c0156t0001g0163 a0009c0095t0007g0166 a0108c0156t0001g0163	2	242	0.0083	180	c.106 others(199): Show c.10679-352_10679-351insTAAGTACAGTATTACTTACTGTACTT AAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACT TACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTA CAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTT AAAG		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178520989_178812423	178757148	G G	GCTTTAAG others(173): Show GCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAA TACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTA CAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTT ACTTTAAGTACAGTAAGTAATACTGTACTTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0110 a0110	a0110c0033 a0110c0033	a0110c0033t0001 a0110c0033t0001	a0110c0033t0001g0159 a0110c0033t0001g0159	1	242	0.0041	180	c.106 others(199): Show c.10679-352_10679-351insTAAGTACAGTATTACTTACTGTACTT AAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACT TACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTA CAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTT AAAG		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178739405_178812423	178757146	A A	ATGCTTTA others(173): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGTACAGTAAGTAATACTGTACT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01978.hp2 HG02258.hp2 others(3): Show HG01167.hp2 HG01978.hp2 HG02258.hp2 HG02735.hp1 HG02896.hp2 HG02922.hp2	a0001 a0004 a0019 others(2): Show a0001 a0004 a0019 a0051 a0063	a0001c0003 a0001c0015 a0004c0006 others(3): Show a0001c0003 a0001c0015 a0004c0006 a0019c0023 a0051c0078 a0063c0070	a0001c0003t0001 a0001c0015t0008 a0004c0006t0001 others(3): Show a0001c0003t0001 a0001c0015t0008 a0004c0006t0001 a0019c0023t0001 a0051c0078t0001 a0063c0070t0008	a0001c0003t0001g0151 a0001c0015t0008g0144 a0004c0006t0001g0124 others(3): Show a0001c0003t0001g0151 a0001c0015t0008g0144 a0004c0006t0001g0124 a0019c0023t0001g0172 a0051c0078t0001g0252 a0063c0070t0008g0120	6	370	0.0162	180	c.103 others(201): Show c.10303+1837_10303+1838insAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACT TACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTA CAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTT AAAGCA		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
TTN_chr2_178739405_178812423	178757148	G G	GCTTTAAG others(173): Show GCTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAA TACTGTACTTACTTTAAGTACAGCAAGTAATACTGTACTTACTTTAAGTA CAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTT ACTTTAAGTACAGTAAGTAATACTGTACTTA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0056 a0006c0056	a0006c0056t0005 a0006c0056t0005	a0006c0056t0005g0238 a0006c0056t0005g0238	1	370	0.0027	180	c.103 others(201): Show c.10303+1835_10303+1836insTAAGTACAGTATTACTTACTGTAC TTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTA CTTACTGTACTTAAAGTAAGTACAGTATTACTTGCTGTACTTAAAGTAAG TACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTAC TTAAAG		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
TTN_chr2_178739405_178812423	178757148	G G	GCTTTAAG others(173): Show GCTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAA TACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTA CAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTT ACTTTAAGTACAGTAAGTAATACTGTACTTA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG04228.hp2 HG02965.hp2 HG04228.hp2	a0024 a0069 a0024 a0069	a0024c0030 a0069c0057 a0024c0030 a0069c0057	a0024c0030t0001 a0069c0057t0005 a0024c0030t0001 a0069c0057t0005	a0024c0030t0001g0237 a0069c0057t0005g0240 a0024c0030t0001g0237 a0069c0057t0005g0240	2	370	0.0054	180	c.103 others(201): Show c.10303+1835_10303+1836insTAAGTACAGTATTACTTACTGTAC TTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTA CTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAG TACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTAC TTAAAG		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
TTN_chr2_178739405_178812423	178757148	G G	GCTTTAAG others(173): Show GCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAA TACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTA CAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTT ACTTTAAGTACAGTAAGTAATACTGTACTTA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0064 a0064	a0064c0035 a0064c0035	a0064c0035t0014 a0064c0035t0014	a0064c0035t0014g0232 a0064c0035t0014g0232	1	370	0.0027	180	c.103 others(201): Show c.10303+1835_10303+1836insTAAGTACAGTATTACTTACTGTAC TTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTA CTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAG TACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTAC TTAAAG		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
TUBGCP2_chr10_133273635_133313872	133292260	A A	ACTCCGTG others(173): Show ACTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCC TCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCACGCACCCTCCGTGTCCCCCATGTCCCCCATGT CCCTCCGTGTCCCTCCGTGTCCCCCATGTCC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	284	0.0035	180	c.121 others(197): Show c.1214+238_1214+239insGGACATGGGGGACACGGAGGGACACGGA GGGACATGGGGGACATGGGGGACACGGAGGGTGCGTGCTGCCCTCTCCCG TACAGGTAGGGCTCCCCGGGACACGGGGACATGGGGGACATGGGGGACAC GGAGGGACACGGAGGGACACGGGGGACACGGAGGGACATGGGGGACACGG AG		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TWIST2_chr2_238843085_238915534	238870237	C C	CACACCAC others(173): Show CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCCCACACACACCACACCCTACACA CACCACACCCCACACACACCACACACCCCCCACACACACCACACCCCATA CACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	338	0.0030	180	c.35 others(199): Show c.35+21507_*35+21508insCCACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCTACACACACCACACCCCACACACACCACACACCCCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCA TACA		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870987	A A	ACCCCACA others(173): Show ACCCCACACACACCACACCCCATACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	338	0.0059	180	c.35 others(199): Show c.35+22255_*35+22256insCCCACACACACCACACCCCATACACA CCACACACCCCACACACACCACACACCCCACACACACCACACCCCATACA CACCACACCCCATACACACCACACCCCACACACACCACACCCCCCACACA CACCACACCCCACACACACCACACCCCATACACACCACACACCCCACACA CACC		TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
U2SURP_chr3_142996570_143065725	143047275	A A	ACCCCCCC others(173): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCTGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	378	0.0027	180	c.254 others(199): Show c.2545-3657_2545-3656insCACCTCCCTCCCGGACGGGGCGGCCG GCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCA CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCC		U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2U_chr1_64198623_64272368	64239092	G G	GGAAGAAG others(173): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGAAG AGGAGGAAGAGGAGGAAGAGGAGGAAGAAGAGGAAGAAGAGGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	330	0.0030	180	c.596 others(197): Show c.596-2519_596-2518insGGAGGAAGAGGAGGAAGAGGAGGAAGAG GAGGAAGAAGAGGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
UBXN7_chr3_196342662_196437427	196378820	T T	TGGATTTT others(173): Show TGGATTTTAGCCAGCTTCTTTCCATGTTGGTTTTGGGGGATTTTAGCCAG CTTCTTTCCATGTTGGTTTTGGGGGGTTTTAGCCAGCTTCTTTCCATGTT GGTTTTGGGGGGTTTTAGCCAGCTTCTTTCCATGTTGGTTTTGGGGGGTT TTAGCCAGCTTCTTTCCATGTTGGTTTTGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp1 HG01099.hp1 others(32): Show HG00642.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01517.hp2 HG01891.hp1 HG01975.hp1 HG02055.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02818.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03688.hp1 HG03927.hp1 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0028 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0054 a0001c0001t0059 a0001c0003t0018 a0001c0004t0002	a0001c0001t0002g0117 a0001c0001t0002g0204 a0001c0001t0002g0236 others(32): Show a0001c0001t0002g0117 a0001c0001t0002g0204 a0001c0001t0002g0236 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0272 a0001c0001t0005g0172 a0001c0001t0005g0246 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0011g0078 a0001c0001t0011g0241 a0001c0001t0012g0201 a0001c0001t0012g0202 a0001c0001t0012g0203 a0001c0001t0012g0206 a0001c0001t0014g0182 a0001c0001t0018g0115 a0001c0001t0028g0118 a0001c0001t0028g0141 a0001c0001t0039g0256 a0001c0001t0040g0253 a0001c0001t0041g0116 a0001c0001t0042g0257 a0001c0001t0054g0127 a0001c0001t0059g0077 a0001c0003t0018g0005 a0001c0003t0018g0006 a0001c0004t0002g0205	35	274	0.1277	180	c.469 others(197): Show c.469-6958_469-6779dupCCCAAAACCAACATGGAAAGAAGCTGGC TAAAACCCCCCAAAACCAACATGGAAAGAAGCTGGCTAAAACCCCCCAAA ACCAACATGGAAAGAAGCTGGCTAAAACCCCCCAAAACCAACATGGAAAG AAGCTGGCTAAAATCCCCCAAAACCAACATGGAAAGAAGCTGGCTAAAAT CC		UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10						chr3	TogoVar
UBXN7_chr3_196342662_196437427	196378964	G G	GGGGTTTT others(173): Show GGGGTTTTAGCCAGCTTCTTTCCATGTTGGTTTTGGGGGATTTTAGCCAG CTTCTTTCCATGTTGGTTTTGGGGGATTTTAGCCAGCTTCTTTCCATGTT GGTTTTGGGGGGTTTTAGCCAGCTTCTTTCCATGTTGGTTTTGGGGGGTT TTAGCCAGCTTCTTTCCATGTTGGTTTTGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0247 a0001c0001t0058g0247	1	274	0.0037	180	c.469 others(197): Show c.469-6923_469-6922insTCCAAAACCAACATGGAAAGAAGCTGGC TAAAACCCCCCAAAACCAACATGGAAAGAAGCTGGCTAAAACCCCCCAAA ACCAACATGGAAAGAAGCTGGCTAAAATCCCCCAAAACCAACATGGAAAG AAGCTGGCTAAAATCCCCCAAAACCAACATGGAAAGAAGCTGGCTAAAAC CC		UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10						chr3	TogoVar
UCN3_chr10_5359966_5379692	5369954	T T	TGTGTGTA others(173): Show TGTGTGTATATGCGCGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTG TATATGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGCGTG TGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTG TATGTGTGTGTGTATATGCGTGTGTATATGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18988.hp2 HG02132.hp1 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	2	468	0.0043	180	c.-6- others(195): Show c.-6-3748_-6-3747insCGTGTATGTGTGTGTATGTGTGTGTATATG TGTGTGTATATGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATA TGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTG TGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCG		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5369954	T T	TGTGTGTA others(173): Show TGTGTGTATATGCGCGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGTG TATATGTGTGTGTATATGTGTATGTGTGTGTATATGTGTGTGTATGTGTG TGTATATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTA TATGTGTGTGTGTATGTGTGTGTGTATATGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03579.hp1 HG03195.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0062 a0002c0002t0002g0063	2	468	0.0043	180	c.-6- others(195): Show c.-6-3748_-6-3747insCGTGTATGTGTGTGTGTATGTGTGTGTATG TGTGTGTATATGTGTGTGTATATGTGTATGTGTGTGTATATGTGTGTGTA TGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTATGTG TGTGTATATGTGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGCG		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(173): Show CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATG GGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0147 a0001c0006t0004g0147	1	344	0.0029	180	c.218 others(197): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGG GGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GG		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917245	C C	CGGCTCGG others(173): Show CGGCTCGGAGGCTGTGGGATGGGGGTCAGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCAGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	344	0.0029	180	c.218 others(197): Show c.2183-148_2183-147insTGGGGGTCAGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCAGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGG GA		ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27					INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK4_chr3_41241599_41967103	41890887	G G	GGAAGGGA others(173): Show GGAAGGGACAGGAGGGGGAAGGAAGGGACAGGAGGGGGAAGGAAGGGACA GGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACAGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACG GGAGGGGGAAGGAAGGGACAGGAGGGGGAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG01081.hp1 others(15): Show HG00621.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01433.hp1 HG01891.hp2 HG02165.hp1 HG02257.hp2 HG02615.hp1 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG03209.hp2 NA19043.hp1	a0001 a0006 a0012 others(4): Show a0001 a0006 a0012 a0013 a0014 a0018 a0021	a0001c0001 a0006c0007 a0012c0020 others(4): Show a0001c0001 a0006c0007 a0012c0020 a0013c0024 a0014c0022 a0018c0021 a0021c0019	a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0006c0007t0001 a0012c0020t0001 a0013c0024t0001 a0014c0022t0001 a0018c0021t0001 a0021c0019t0003	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 others(15): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0006c0007t0001g0023 a0006c0007t0001g0034 a0012c0020t0001g0037 a0013c0024t0001g0027 a0014c0022t0001g0029 a0018c0021t0001g0045 a0021c0019t0003g0071	18	72	0.2500	180	c.157 others(199): Show c.1577+4630_1577+4631insTTTCCCCCTCCTGTCCCTTCCTTCCC CCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCC CTTCTTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCCGTCCCTTCTTTCCC CCTCCTGTCCCTTCCTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCTGTCC CTTC		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36						chr3	TogoVar
UMAD1_chr7_7635752_7884223	7679402	T T	TACATGTT others(173): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAATATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGA TAAATATATATTTATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0119 a0001c0001t0019g0119	1	250	0.0040	180	c.82+ others(195): Show c.82+5950_82+5951insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATTTAATTTATAGATAA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC93A_chr6_167286315_167321014	167295439	C C	CCCTCGTG others(173): Show CCCTCGTGATCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTC GCCTCCCTCGTGATCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGAT CCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTGCCTCG TGATCCTCGCCTGCCTCGTGCTCCTCGCCTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0007 a0003c0020t0007	a0003c0020t0007g0024 a0003c0020t0007g0024	1	448	0.0022	180	c.270 others(195): Show c.270-586_270-585insATCCTCGCCTCCCTCGTGCTCCTCGCCTGC CTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTCCCTCGTGCTCCTCGC CTCCCTCGTGATCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGATCC TCGCCTGCCTCGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTGCCTCGTG		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295583	G G	GCCTCGTG others(173): Show GCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTC GCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGAT CCTCGCCTCCCTCGTGATCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCG TGATCCTCGCCTGCCTCGTGCTCCTCGCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01175.hp1 others(2): Show HG00140.hp1 HG00280.hp1 HG01175.hp1 HG01255.hp2 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0009 a0001c0001 a0003c0003 a0003c0009	a0001c0001t0001 a0003c0003t0003 a0003c0009t0001 a0001c0001t0001 a0003c0003t0003 a0003c0009t0001	a0001c0001t0001g0020 a0001c0001t0001g0070 a0003c0003t0003g0144 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0070 a0003c0003t0003g0144 a0003c0009t0001g0069	5	448	0.0112	180	c.270 others(195): Show c.270-414_270-413insGCCTCGTGCTCCTCGCCTCCCTCGTGCTCC TCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTCCCTCGTG ATCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGATCCTCGCCTGCCT CGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCT		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167295673	G G	GCCTCGTG others(173): Show GCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCTCCTC GCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTGCT CCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCG TGCTCCTCGCCTGCCTCGTGCTCCTCGCCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	448	0.0022	180	c.270 others(195): Show c.270-342_270-341insCCCTCGTGCTCCTCGCCTGCCTCGTGCTCC TCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCTCGTG CTCCTCGCCTCCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCTGCCT CGTGCTCCTCGCCTGCCTCGTGCTCCTCGCCTCCCTCGTGCTCCTCGCCT		UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
UNG_chr12_109092597_109115992	109106906	T T	TGTATATA others(173): Show TGTATATATATATATATACATATACACACATATATATATACGTATATATA TATGTGTATATATATACGTATATATATATATGTGTGTATATATATATGTA TATATATATGTGTATATATATATATACGTATATATATGTGTATATATATA TACGTATATATATGTGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp1 HG02257.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0200 a0001c0001t0001g0201	2	452	0.0044	180	c.802 others(197): Show c.802-2923_802-2922insGTATATATATATATATACATATACACAC ATATATATATACGTATATATATATGTGTATATATATACGTATATATATAT ATGTGTGTATATATATATGTATATATATATGTGTATATATATATATACGT ATATATATGTGTATATATATATACGTATATATATGTGTATATATATATAT AC		UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6						chr12	TogoVar
USH1C_chr11_17488900_17549416	17527070	A A	AGCTCCCC others(173): Show AGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTC CCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCG CCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCCCTC CCTCCCTCCCACCGTCATGGAGTACTGCCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01074.hp2 others(13): Show HG00544.hp1 HG00673.hp1 HG01074.hp2 HG01175.hp1 HG02004.hp2 HG02074.hp2 HG02155.hp1 NA18950.hp1 NA18953.hp1 NA18963.hp2 NA18984.hp2 NA18988.hp2 NA19000.hp1 NA19010.hp1 NA19010.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0002c0010	a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0002 a0002c0006t0002 a0002c0010t0002	a0001c0001t0001g0009 a0001c0001t0001g0083 a0001c0001t0001g0085 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0004t0001g0084 a0001c0004t0001g0087 a0001c0004t0001g0316 a0002c0002t0002g0093 a0002c0006t0002g0092 a0002c0010t0002g0090 a0002c0010t0002g0091	16	360	0.0444	180	c.497 others(193): Show c.497-31_497-30insAGGGCAGTACTCCATGACGGTGGGAGGGAGGG AGGGCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGC GGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGG AGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC		USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26						chr11	TogoVar
USH1C_chr11_17488900_17549416	17527112	A A	ACCTGCTC others(173): Show ACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG CTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCC CCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCCCCGCC CTCCCTCCCTCCCACCGTCATGGAGTACTGC	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA18982.hp1 HG03688.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0016t0001 a0001c0001t0001 a0001c0016t0001	a0001c0001t0001g0125 a0001c0016t0001g0075 a0001c0001t0001g0125 a0001c0016t0001g0075	2	360	0.0056	180	c.497 others(193): Show c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGG GCGGGGGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGG GGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC AGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG		USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26						chr11	TogoVar
USH1C_chr11_17488900_17549416	17527112	A A	ACCTGCTC others(173): Show ACCTGCTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTG CTCCCCCGCCCTCCCTCCCTCCCACCGTCATGGAGTACTGCCCTGCTCCC CCGCCCTCCCTCCCTCCCACCGTCGTGGAGTACTGCCCTGCTCCCCCGCC CTCCCTCCCTCCCACCGTCATGGAGTACTGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	360	0.0028	180	c.497 others(193): Show c.497-73_497-72insGCAGTACTCCATGACGGTGGGAGGGAGGGAGG GCGGGGGAGCAGGGCAGTACTCCACGACGGTGGGAGGGAGGGAGGGCGGG GGAGCAGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGC AGGGCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG		USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding	5/26						chr11	TogoVar
VCX2_chrX_8164944_8176267	8169164	T T	TCCTCTTC others(173): Show TCCTCTTCCTCCCTCCCTCCCCACACACCGCCTCTTCCTCCCTCCCTCCC CACACACCGCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACACCACCG CTTCCTCCCTCCCTCCCTCCCTCCCCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	115	0.0087	180	c.86 others(189): Show c.867_*868insTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTG GTGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGCGGTGTGTGGGGAG GGAGGGAGGAAGAGGCGGTGTGTGGGGAGGGAGGGAGGAAGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					779		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169170	T T	TCCTCCCT others(173): Show TCCTCCCTCCCTCCCCACACACCGCCTCTTCCTCCCTCCCTCCCCACACA CCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCT CCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCTCACACACCACCGCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0053 a0001c0028t0001g0053	1	115	0.0087	180	c.86 others(189): Show c.861_*862insGAGGAAGCGGTGGTGTGTGAGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGCGGTGTGTGGGGAGGGAGGGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					773		chrX	TogoVar
VCX2_chrX_8164944_8176267	8169362	A A	ACCTCTCC others(173): Show ACCTCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCTCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0018 a0005c0006t0001g0018	1	115	0.0087	180	c.66 others(189): Show c.669_*670insAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGG		VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding					581		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533350	C C	CCCTCCCC others(173): Show CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCT CCCTCCCTCCCTCCCCACACACCTCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03130.hp1 HG02109.hp1 HG03130.hp1	a0001 a0018 a0001 a0018	a0001c0002 a0018c0016 a0001c0002 a0018c0016	a0001c0002t0016 a0018c0016t0003 a0001c0002t0016 a0018c0016t0003	a0001c0002t0016g0050 a0018c0016t0003g0030 a0001c0002t0016g0050 a0018c0016t0003g0030	2	74	0.0270	180	c.39 others(189): Show c.394_*395insAAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG		VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding					267		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533801	G G	GGCTCTCC others(173): Show GGCTCTCCTGACTCAGTGGTTCTTCCATCTCGCTCTCCTGACTCAGTGGT TCCTCCACCTGGCTCTCCTGACTCAGTGGTTCCTCCACCTCGCTCTCCTG ACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCTTCCACCT CGCTCTCCTGACTCAGTGGTTCCTCCACCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19079.hp1 NA19079.hp1	a0025 a0025	a0025c0025 a0025c0025	a0025c0025t0006 a0025c0025t0006	a0025c0025t0006g0041 a0025c0025t0006g0041	1	74	0.0135	180	c.504 others(187): Show c.504_505insGAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGA AGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGA GCGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTG AGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGC	p.Ser others(193): Show p.Ser168_Gln169insGluValGluGluProLeuSerGlnGluSerGl uValGluGluProLeuSerGlnGluSerGlnValGluGluProLeuSerG lnGluSerGluValGluGluProLeuSerGlnGluSerGlnValGluGlu ProLeuSerGlnGluSerGluMetGluGluProLeuSerGlnGluSer	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding	3/3	811/995	504/561	168/186			chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467327	G G	GGAGGTGT others(173): Show GGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGACGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	271	0.0037	180	c.94 others(189): Show c.944_*945insGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGACGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					818		chrX	TogoVar
VCX_chrX_7838171_7849143	7843758	A A	AGAACCAC others(173): Show AGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGA GCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTG AGTCAGGAGAGTGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGA GGAACCACTGAGTCAGGAGAGCGAGCTGGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19086.hp1 NA19086.hp1	a0088 a0088	a0088c0055 a0088c0055	a0088c0055t0002 a0088c0055t0002	a0088c0055t0002g0001 a0088c0055t0002g0001	1	341	0.0029	180	c.473 others(187): Show c.473_474insTGAGGTGGAGGAACCACTGAGTCAGGAGAGCCAGGTGG AGGAACCACTGAGTCAGGAGAGCGAGCTGGAGGAACCACTGAGTCAGGAG AGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACT GAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAG	p.Ser others(193): Show p.Ser158_Glu159insGluValGluGluProLeuSerGlnGluSerGl nValGluGluProLeuSerGlnGluSerGluLeuGluGluProLeuSerG lnGluSerGlnValGluGluProLeuSerGlnGluSerGluValGluGlu ProLeuSerGlnGluSerGlnValGluGluProLeuSerGlnGluSer	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding	2/2	507/781	474/621	158/206		INFO_REALIGN_3_PRIME	chrX	TogoVar
VPS16_chr20_2835745_2871732	2842848	A A	AGATAGAT others(173): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATGGATAGATGTATCTATCGATG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	408	0.0025	180	c.53+ others(195): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATGGATAGATGTATCTATCGATGGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(173): Show ATCATATATGATACATATATATATCATATATGATACATATATCATATATA TCATATATGATACATATATCATATATATCATATATGATACATATATCATA TATATGATACATGTATCATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	340	0.0029	180	c.856 others(197): Show c.856+2002_856+2003insATCATATATGATACATATATCATATATA TCATATATGATACATATATCATATATATCATATATGATACATATATCATA TATATGATACATGTATCATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCTCATATATGATACATATAT AT		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(173): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATCATATATGATACATATATCATATATATGATACATGTATCATATA TGATACATATATATCATATATATGATACATATATATCATATATATGATAC ATATATATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02897.hp2 HG02615.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0252 a0001c0001t0001g0255	2	340	0.0059	180	c.856 others(197): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATCATA TATGATACATATATATCATATATATGATACATATATATCATATATATGAT ACATATATATCTCATATATGATACATATATATCTCATATATGATACATAT AT		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(173): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATCATATATGATACATATATCATATATATGATACATGTATCATATATG ATACATATATATCATATATATGATACATATGTATCATATATATGATACAT ATGTATCATATATATGATACATATGTATCAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01928.hp1 others(8): Show HG00323.hp1 HG00621.hp1 HG01928.hp1 HG01952.hp1 HG01993.hp1 HG02071.hp2 NA18940.hp2 NA18949.hp1 NA18983.hp1 NA18988.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0044 a0002c0002t0002g0057 others(7): Show a0002c0002t0002g0001 a0002c0002t0002g0044 a0002c0002t0002g0057 a0002c0002t0002g0067 a0002c0002t0002g0070 a0002c0002t0002g0073 a0002c0002t0002g0086 a0002c0002t0002g0101 a0002c0002t0002g0226 a0002c0002t0002g0334	11	340	0.0324	180	c.856 others(197): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATGATACATGTATCATA TATGATACATATATATCATATATATGATACATATGTATCATATATATGAT ACATATGTATCATATATATGATACATATGTATCATATATATGATACATAT AT		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(173): Show CATATATGATACATATATCATATATATCATATATGATACATGTATCATAT ATATCATATATGATACATGTATCATATATATGATACATGTATCATATATG ATACATATATATCATATATATGATACATATGTATCATATATATGATACAT ATGTATCATATATATGATACATATGTATCAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18998.hp2 NA18977.hp1 NA18998.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0002 a0008c0008t0002 a0002c0002t0002 a0008c0008t0002	a0002c0002t0002g0234 a0008c0008t0002g0235 a0002c0002t0002g0234 a0008c0008t0002g0235	2	340	0.0059	180	c.856 others(197): Show c.856+2000_856+2001insCATATATATCATATATGATACATGTATC ATATATATCATATATGATACATGTATCATATATATGATACATGTATCATA TATGATACATATATATCATATATATGATACATATGTATCATATATATGAT ACATATGTATCATATATATGATACATATGTATCATATATATGATACATAT AT		VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
VWF_chr12_5943877_6129670	5964226	A A	ACATACAT others(173): Show ACATACATACATACATACATACATGCATACATACATACATACATACATAC ATACATACATGCATACATACATGCATACATACATACATACATACATGCAT ACATACATGCATACATACATACATACATGCATGCATACATACATACATAC ATACATGCATACATACATACATACATGCATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0213 a0002c0012t0001g0213	1	288	0.0035	180	c.788 others(199): Show c.7887+3259_7887+3260insCATGCATGTATGTATGTATGTATGCA TGTATGTATGTATGTATGTATGCATGCATGTATGTATGTATGTATGCATG TATGTATGCATGTATGTATGTATGTATGTATGCATGTATGTATGCATGTA TGTATGTATGTATGTATGTATGTATGTATGCATGTATGTATGTATGTATG TATG		VWF	ENSG00000110799.14	transcript	ENST00000261405.10	protein_coding	47/51						chr12	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCGGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG01070.hp1 others(28): Show HG00408.hp2 HG00673.hp1 HG01070.hp1 HG01943.hp2 HG02040.hp2 HG02132.hp2 HG03831.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18963.hp2 NA18964.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA19002.hp1 NA19005.hp1 NA19010.hp2 NA19056.hp2 NA19059.hp1 NA19062.hp2 NA19085.hp2 NA19088.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0016	a0002c0001 a0002c0014 a0005c0010 others(2): Show a0002c0001 a0002c0014 a0005c0010 a0006c0025 a0016c0049	a0002c0001t0002 a0002c0001t0007 a0002c0014t0002 others(3): Show a0002c0001t0002 a0002c0001t0007 a0002c0014t0002 a0005c0010t0002 a0006c0025t0002 a0016c0049t0002	a0002c0001t0002g0004 a0002c0001t0002g0006 a0002c0001t0002g0007 others(13): Show a0002c0001t0002g0004 a0002c0001t0002g0006 a0002c0001t0002g0007 a0002c0001t0002g0009 a0002c0001t0002g0020 a0002c0001t0002g0037 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0046 a0002c0001t0002g0089 a0002c0001t0007g0007 a0002c0014t0002g0009 a0005c0010t0002g0004 a0006c0025t0002g0004 a0006c0025t0002g0006 a0016c0049t0002g0004	31	431	0.0719	180	c.14 others(191): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAGGCG		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					551		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCGGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCGGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0045 a0002c0001t0002g0045	1	431	0.0023	180	c.14 others(191): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCGGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAGGCG		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					551		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739315	A A	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCCGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01975.hp1 HG01952.hp2 HG01975.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0004 a0002c0001t0002g0050 a0002c0001t0002g0004 a0002c0001t0002g0050	2	431	0.0046	180	c.16 others(191): Show c.1630_*1631insGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAGGCG		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					731		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739384	C C	CGGACAGT others(173): Show CGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCGGGAC AGTGAGGGTGGGAGGCAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAGGCGGCCTGATGCAGGGAGTGAGGCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0008 a0001c0019t0008	a0001c0019t0008g0070 a0001c0019t0008g0070	1	431	0.0023	180	c.16 others(191): Show c.1699_*1700insGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGCGCGGGACAGTGAGGGTGGGAGGCAGCCTGATGCAGGGAGTGA GGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGC AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCA		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					800		chr17	TogoVar
WDR81_chr17_1719704_1743585	1740282	A A	AGGACAGT others(173): Show AGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTG GGAGGCGGCCTGATGCAGGGAGTGAGGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	431	0.0023	180	c.25 others(191): Show c.2597_*2598insGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC AGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCC		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					1698		chr17	TogoVar

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