Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMEM242_chr6_157284025_157328519	157311330	T T	TCATCAGT others(534): Show TCATCAGTGTCCCAGGGTGCGCTCATCCGGCCTCATGATAGTGTCGCAGT GTGCACTCACCCAACCTAATAATAGTGTCCCAGTGTGCAATCACCTAGCC TCATCATAGAGCCCCAGTGTCCGCTCACCTAGCCTCATCAAAGTGTCCCA GTGGGTGCTCACCTAGCCTCATCATAGTGTCCCAGTCGGCGCTCACCTAG CCTCATCATAGTGCCCCATTGTGCGCTCACCTAGCCTCATCATAGTGTCC CAGTGTGCACTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCC TGCCTCATCATAGTGAACCACTGTGCGCTCACGTAGCCTCATCATAGTGT CCCAGTGTGCGCTCACCCGGCCTCATCATAGTGTCCCAGTGTGCACTCAC CTAGACTCATCATAATGCCCCAGTATCCGCTCACCTAGCCTCATCATAGT TTCCCAGTGAGCGCTCACCCGGCCTCATCATACTGCCCACTCTGCGCTCA CCCGGCATCATCATAGTGTCCCACTGTGCGCTCACCTGGCCA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0255 a0001c0001t0015g0255	1	344	0.0029	541	c.327 others(558): Show c.327+7451_327+7452insTGGCCAGGTGAGCGCACAGTGGGACACT ATGATGATGCCGGGTGAGCGCAGAGTGGGCAGTATGATGAGGCCGGGTGA GCGCTCACTGGGAAACTATGATGAGGCTAGGTGAGCGGATACTGGGGCAT TATGATGAGTCTAGGTGAGTGCACACTGGGACACTATGATGAGGCCGGGT GAGCGCACACTGGGACACTATGATGAGGCTACGTGAGCGCACAGTGGTTC ACTATGATGAGGCAGGGTGAGCGCACACTGGGACACTATGATGAGGCCAG GTGAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCGCACAATGGG GCACTATGATGAGGCTAGGTGAGCGCCGACTGGGACACTATGATGAGGCT AGGTGAGCACCCACTGGGACACTTTGATGAGGCTAGGTGAGCGGACACTG GGGCTCTATGATGAGGCTAGGTGATTGCACACTGGGACACTATTATTAGG TTGGGTGAGTGCACACTGCGACACTATCATGAGGCCGGATGAGCGCACCC TGGGACACTGATG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS2_chr21_41459305_41513158	41474514	A A	AGTGAGGG others(534): Show AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGGTGAGTGAGGGGGTGAGGGGGT GAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAG GTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGT GGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGG GTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGT GAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGG GTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGT GAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGA GTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGT GAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0246 a0002c0005t0001g0246	1	382	0.0026	541	c.728 others(558): Show c.728-1019_728-1018insCCACCCCCTCACTCACTCCCTCACCCCC TCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTC ACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCC TCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTC CCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCC TCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTC CCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCC TCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTC ACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCC TCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCCTCACCTCCT CACTCACCCCCTCACCTCCTCACTCACCCCCTCACTCACTCCCTCACCCC CTCACCCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(534): Show CGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAG CCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCG CCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCC TCCCCGCCGCAGCCTCCCCGCCGCACCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCG CAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCT CTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCA CCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCC GCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	2	348	0.0058	541	c.519 others(556): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC GGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGC TGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGG GAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TRIM46_chr1_155168849_155189970	155189605	C C	CTCCGGGG others(534): Show CTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGG GGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCC GAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGG TGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGT GGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTG CGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	541	c.54 others(552): Show c.5415_*5416insTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGG CGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGG GCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGT GACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCG GGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGC CTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGC CCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGG GCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTG GGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGG TGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGGTGTCC GGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGG CCTGGTG	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4636		chr1	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(534): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TATAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATAAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATATAAATTATATATATATTATATATAT ATATAAATTATATATATTATATATATATAAAAATTATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG04184.hp2 HG01981.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	2	272	0.0074	541	c.28 others(552): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATATAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATAAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATATAAATTATAT ATATATTATATATATATATAAATTATATATATTATATATATATAAAAATT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(534): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATAAAAATTATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATAAAAAATTATATATATTATATAT ATATAAAAATTATATATATATTATATATATATATATTATATATATTATAT ATATATAAAAATTATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	272	0.0037	541	c.28 others(552): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATAAAAATTATA TATATTATATATATAAAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATAAAAAATT ATATATATTATATATATATAAAAATTATATATATATTATATATATATATA TTATATATATTATATATATATAAAAATTATATATATTATATATATATAAA AATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204340	T T	TATGATGA others(534): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	174	0.0058	541	c.41- others(558): Show c.41-49157_41-49156insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(534): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTC CCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCT CCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTC CTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18984.hp1 NA19075.hp2 NA18980.hp2 NA18984.hp1 NA19075.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0143 a0001c0002t0002g0025 a0001c0002t0002g0143	3	334	0.0090	541	c.657 others(556): Show c.657+440_657+441insCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCT TCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTC CCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTC CCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTC CTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTT TCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TUBB2B_chr6_3219277_3232653	3222092	C C	CCATCACC others(534): Show CCATCACCACCACCACTACCACTACCACCAACACAATCACCACCACGATC ACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACCAC CACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCACCA CCACCACTAGCACAACCACAACACTACCACATCACCACCACCACTACCAC TACTACCATCACCATCACCACCACCATCACCACCACCACCACAATACTAC CACATCACCACCACGATCACCATCATCACCACCACCACCACCACTAGCAC AACCACAACACTACCACATCACCACCACCACTACCACCACCACCACCATC ACTACTACCATCACCACCACCACCACCATCACCACCACCACGACCACCAC AACACTACCACATCACCACCACCACCATCACCATCGCCACCATCACCACC ACCATCACCACCACCACCACCACCACCACACTACCACCACCACCATCACC ATCATCATCACCACCACCACGACCACCACAACACTACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG03225.hp2 others(1): Show HG02895.hp1 HG02896.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	360	0.0111	541	c.26 others(552): Show c.2658_*2659insATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTG ATGATGATGGTGATGGTGGTGGTGGTAGTGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGATGGTGGCGATGGTGATGGTGGTGGTGGTGATGTG GTAGTGTTGTGGTGGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTAGTAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGTGGTAGTG TTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGATGATGGTGATCGTGGTG GTGATGTGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGA TGGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCT AGTGGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGG TGATGGTGGTGGTAATTATGATGGTGGTAGTGGTAGTGGTGGTGGTGGTG ATGATGGTGATCGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGT GGTGATG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2184		chr6	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(534): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCTCCCCTCCC CTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCCCCTCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCC CTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCC TTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCC TTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	64	0.0156	541	c.104 others(560): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTT CCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCCTCCTCCCCTCCCCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCC TTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCC TTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTC TCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(534): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCTCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCC CTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCC TTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCC TTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	64	0.0156	541	c.104 others(560): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCTCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCC TTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCC TTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTC TCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF214_chr11_6992085_7025346	6992834	C C	CGGTAATA others(534): Show CGGTAATACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTA GGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGT CCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCA ATTCCCACCTATGAGTGAGAATATGCATAAAAACCCTAGAAGAAAACCTA GGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAAC ACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG CAACCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGG GCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0093 a0006c0008t0001g0093	1	366	0.0027	541	c.70 others(552): Show c.7027_*7028insTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGG ATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTT GTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCT CTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTG CTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATG GTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGCATATTCTCACTCATAG GTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACA CTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGA GATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTA AAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAG TATTACC	ZNF214	ENSG00000149050.10	transcript	ENST00000278314.5	protein_coding		4250		chr11	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GTGATATA others(534): Show GTGATATATATCATATATATCAAATATATGATATATATCATATATGTGAT ATATATCACATATGTGATATATATCATATCACATATCATATGACATATCA TATCACATATCACATATCACATATCACATATCACATATCATATGATATAT ATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATGT GATATATAGCATATGTGATATATATCATATATATCACATGTGATATATAG CATATGTGATATATATCATATATATCACATATGCTATATAGCATATGTGA TATATATCATATATATCACATATGCTATATAGCATACGTGATATATATCA TATATATCATATATGATGTATAGCATGATATATATGCTATATATCACATG TGATATATAGCATATATATCACATGTGATATATAGCATATATATCACATG TGATATATAGCATATGTGATATATATGATATATGTGATATATATCATATG TGATATATATGATATATATCACATATATATGATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 NA18612.hp2 HG02602.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0003 a0001c0001t0002g0005	2	350	0.0057	541	c.-35 others(552): Show c.-3503_-3502insTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATGTGATATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATGTGATATATATGATATATGT GATATATATCATATGTGATATATATGATATATATCACATATATATGATAT ATATCAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(534): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGT GGGGAGGGGGGAGAAGGGGCTTCAGTCACTCTTGCAGGTGAGGTGGGGAG GGGATGAGAAGGATGGGGGAGGAGAAGGGTGGGAGGGGAGGAGAAGGGTG GGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTAGGGAGGGGGGA GAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTTGGGA GGGGAGGAAAAGGGTGGGGAGGGGAGGAGAAGTGTGGGGAGGGGGGAGAA GGGTGGGGAGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGG GAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGG TGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGG GAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTG GGGAGGGGGGGAGAAGGGTGGGGAAGGGGGAGAAGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0085 a0001c0001t0014g0085	1	126	0.0079	541	c.-28 others(560): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCC CCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCC TTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTT CTCCCCCTCCCCACCCTTCTCCCCCCTCCCCACACTTCTCCTCCCCTCCC CACCCTTTTCCTCCCCTCCCAACCCTTCTCCCCCCTCCCCACCCTTCTCC CCCCTCCCCACCCTTCTCCCCCCTCCCTACCCTTCTCCTCCCCTCCCCAC CCTTCTCCTCCCCTCCCACCCTTCTCCTCCCCTCCCACCCTTCTCCTCCC CCATCCTTCTCATCCCCTCCCCACCTCACCTGCAAGAGTGACTGAAGCCC CTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCC TCCCCACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(534): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATATACGTA TATACACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATA TATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(26): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp1 HG02135.hp2 HG02165.hp1 HG02523.hp1 NA18747.hp1 NA18945.hp1 NA18947.hp2 NA18973.hp2 NA18979.hp2 NA18984.hp2 NA18994.hp2 NA18998.hp2 NA19001.hp2 NA19011.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19079.hp2 NA19087.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0016 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0011c0017t0001g0241	29	383	0.0757	541	c.-42 others(552): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATATACGTATATACACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATATATGTGTATATATACATGTATATATACATATATAT ACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(534): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATATACGTA TATATACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATA TATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00642.hp2 others(37): Show HG00099.hp2 HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp2 HG01496.hp2 HG01978.hp2 HG02132.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02976.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18944.hp2 NA18953.hp1 NA18959.hp1 NA18962.hp2 NA18966.hp2 NA18981.hp2 NA18984.hp1 NA18992.hp2 NA19005.hp2 NA19043.hp1 NA19088.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0014 a0001 a0007 a0014	a0001c0001 a0007c0007 a0014c0018 a0001c0001 a0007c0007 a0014c0018	a0001c0001t0001 a0007c0007t0001 a0014c0018t0001 a0001c0001t0001 a0007c0007t0001 a0014c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0140 a0007c0007t0001g0032 a0014c0018t0001g0002	40	383	0.1044	541	c.-42 others(552): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATATACGTATATATACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATATATGTGTATATATACATGTATATATACATATATAT ACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(534): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTATGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATATACGTA TATACACATATATACATGTATATATATATACGTATATACACATATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATA TATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0028 a0007c0007t0001g0028	1	383	0.0026	541	c.-42 others(552): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTATGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATATACGTATATACACATATATACATGTATATATATATACGTAT ATACACATATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATATATGTGTATATATACATGTATATATACATATATAT ACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
AHRR_chr5_316714_443285	318267	T T	TCCCCCCT others(535): Show TCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCC TGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCTCCCCCC ACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCAATCCTTCACCTCCCCC CTCCCTTCATCTCCCCCCTCACCCTGCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0133 a0001c0001t0058g0133	1	268	0.0037	542	c.-35 others(553): Show c.-3563_-3562insCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCAC CTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCAT CTTTTACCTCCCCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCAA TCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTGCACCTCCCC CCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCAC CTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGC ACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCC TCCACCTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3446		chr5	TogoVar
ASAP2_chr2_9201812_9410678	9305501	T T	TAGTAGTG others(535): Show TAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAG ATATTGGTGGAGAGGCTGTAGTGGTGGGGTATAGATAATTGGTGGAGGGG CTGTAATAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTA TAGATATTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTC TGGAGTAGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTAT ACATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAG GCTGTAGTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGT ATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAG GGGCTGTAATAGTGGGGTACAGATATTGGTGGAGGGGCTGGAGTAGTGAG GTATAGATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGT AGAGGCTGTAGTAGTGGGGTATAGATATTGGTTGACAGGCTGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01884.hp1 others(5): Show HG01070.hp1 HG01109.hp1 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0004 a0001c0007t0004 a0001c0006t0004 a0001c0007t0004	a0001c0006t0004g0014 a0001c0006t0004g0018 a0001c0006t0004g0032 others(5): Show a0001c0006t0004g0014 a0001c0006t0004g0018 a0001c0006t0004g0032 a0001c0006t0004g0063 a0001c0006t0004g0189 a0001c0006t0004g0197 a0001c0006t0004g0204 a0001c0007t0004g0019	8	210	0.0381	542	c.345 others(559): Show c.345+8083_345+8084insAGGCTGTAGTAGTGGGGTATAGATATTG GTGGAGAGGCTGTAGTGGTGGGGTATAGATAATTGGTGGAGGGGCTGTAA TAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATA TTGGTGGAGGGGCTGGAGTAGTGAGGTATAGATATTGGAGGGTCTGGAGT AGTGAGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTATACATAT TGGTGGAGGGGCTGTAATAGTGGGGTATAGATGTTGGTGTAGAGGCTGTA GTAGTGGGGTATAGATATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGAT ATTGGTGGAGAGGCTGTAGTAGTGGGGTATAGATATTGGTGGAGGGGCTG TAATAGTGGGGTACAGATATTGGTGGAGGGGCTGGAGTAGTGAGGTATAG ATATTGGTGGAGGGGCTGTAATAGTGGGGTATAGATATTGGTGTAGAGGC TGTAGTAGTGGGGTATAGATATTGGTTGACAGGCTGGAGTAGTGGGGTAT AGATATTGGTGGAG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB5_chr4_176208673_176274222	176218253	T T	TATATATA others(535): Show TATATATATTTGTATGATATATATATTTGTATGATATATAAATATATATA TTTGTATGATATATAAATATACATGTATGATATATAAATATATATTTGTA TGATATATAAATATATATATATTGTATGATATATAAATATATATATATTT GTATGATATATATATTTGTATGATATATAAATATATATTTGTATGACATA TAAATATATATTTGTATGACATATAAATATATATATTTGTATGACATATA AATATATATATTTGTATGACATATAAATATATATGTATGATATATAAATA TATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATATA TATATTTGTATGATATATAAATATATATATGTATGATATATAAATATATA TATTTGTATGATATATAAATATATATATTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	410	0.0024	542	c.671 others(559): Show c.671-1245_671-1244insTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATTTATA TATCATACAAATATATATATTTATATATCATACAAATATATATATTTATA TATCATACAAATATATATTTATATATCATACATATATATTTATATGTCAT ACAAATATATATATTTATATGTCATACAAATATATATATTTATATGTCAT ACAAATATATATTTATATGTCATACAAATATATATTTATATATCATACAA ATATATATATCATACAAATATATATATATTTATATATCATACAATATATA TATATTTATATATCATACAAATATATATTTATATATCATACATGTATATT TATATATCATACAAATATATATATTTATATATCATACAAATATATATATC ATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATP10B_chr5_160558120_160857211	160653921	A A	AATATATG others(535): Show AATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATA CGTATATACATATATAAATATATGTTGTATATACGTATATACATATATAA ATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATAC GTATATACTATATATGTTGTATATACGTATATACAACATAAATATATGTT GTATATACGTATATACAACATAAATATATGTTGTATATACGTATATACAA CATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACATATA TAAATATATGTTGTATATACGTATATACTATATATGTTGTATATACGTAT ATACAACATATATTTATATATGTATATACGTATATACAACATAAATATAT GTTGTATATACGTATATACAACATAAATATATGTTGTATATACGTATATA CAACATAAATATATGTTGTATATACGTATATACATATATAAAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0059 a0004c0009t0001g0059	1	236	0.0042	542	c.676 others(559): Show c.676-4666_676-4665insATTTATATATGTATATACGTATATACAA CATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTGTAT ATACGTATATACAACATATATTTATGTTGTATATACGTATATACATATAT AAATATATGTTGTATATACGTATATACAACATATATAGTATATACGTATA TACAACATATATTTATATATGTATATACGTATATACAACATATATTTATA TATGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATA CAACATATATTTATGTTGTATATACGTATATACAACATATATTTATGTTG TATATACGTATATACAACATATATTTATGTTGTATATACGTATATACAAC ATATATAGTATATACGTATATACAACATATATTTATATATGTATATACGT ATATACAACATATATTTATATATGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATATTTATATATGTATATACGTA TATACAACATATAT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(535): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATACTATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTATATATATATAAACTAT ATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATA TACTATATATATAGTATATATATATATAAACTATATATATAGTTTATATA TATATAAACTATATATATAGTTTATATATATATATACTATATATATAGTT TATATATATATATATACTATATATATAGTTTATATATATATAAACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATATATACT ATATATATAGTTTATATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	304	0.0033	542	c.331 others(561): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTATATATATATATATAAACTATATATATAGTATATATATATATAAACTA TATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATAT ATACTATATATATAGTATATATATATATAAACTATATATATAGTTTATAT ATATATAAACTATATATATAGTTTATATATATATACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATAGTATATATATACTATAT ATAGTATATATATATAAACTATATATAGTATATATATATAAACTATATAT ATAGTATATATAAACTATATATATAGTATATATATATAAACTATATATAT ATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
B4GALNT4_chr11_364499_387117	374779	A A	AGGGAGGG others(535): Show AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGAAGGAGGAAGGGA GGGAGGGAGGAGGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGA GGGAGGAGGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAGGGAGGGAGGGAGGAGGGAAGGGAGGGAGGTGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGGGAGGGAGGGAGGAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAGGGGAGGGGAGGGAGGAGGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGGGAGGGAGGAGGAAGGGAGGAAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGGGAGGGAGGAGGAAGGGAGGAAGGGAGGAGGAAGG GAGGGTGAGGAGGAAGGGAGGGAGGAGGGGAGGGAGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0014 a0001c0003t0004g0014	1	184	0.0054	542	c.784 others(557): Show c.784-646_784-645insAAGGAGGAAGGGAGGGAGGGAGGAGGGAAG GGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA GGGAGGGAGGGAGGAGGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGGAGGGGAGGG AGGAGGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGGGAGGGAGGAGGA AGGGAGGAAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGGG AGGGAGGAGGAAGGGAGGAAGGGAGGAGGAAGGGAGGGTGAGGAGGAAGG GAGGGAGGAGGGGAGGGAGGAGGAAGGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(535): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03927.hp1 HG00323.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0222 a0002c0002t0001g0113 a0002c0002t0001g0222	2	410	0.0049	542	c.465 others(557): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCG CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCC TCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTC CCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTC CGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCC TCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCC TCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGC CCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(535): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACAGATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATGTGTATACATATCTGTATACATATCTGTATACATATGTATACATATCT GTATACATATGTGTATACAGATCTGTATACATATGTATACAGATCTGTAT ACATATGTGTATACATATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTGTATACATATCTGTATACATATGTATACATATCTGTATACATAT GTATACAGATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	342	0.0029	542	c.366 others(559): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATCTGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACACATATGTATACAGATCTGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATCTGTATACATATGTATACAGATCTGTA TACACATATGTATACAGATATGTATACATATGTATACAGATATGTATACA GATATGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TATGTATACACATATGTATACAGATATGTATACACATATGTATATACAGA TATGTATACACATATGTATATACAGATATGTATACACATATGTATACAGA TATGTATACATATGTATACAGATCTGTATATACATATGTATACAGATATG TATATACATATGTATACAGATATGTATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATA TACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(535): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACAGATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATGTGTATACATATCTGTATACATATCTGTATACATATGTATACATATCT GTATACATATGTGTATACAGATCTGTATACATATGTATACAGATCTGTAT ACATATGTGTATACATATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTGTATACATATCTGTATACATATGTATACATATCTGTATACATAT GTATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18980.hp1 NA19005.hp1 others(2): Show NA18944.hp1 NA18980.hp1 NA19005.hp1 NA19011.hp1 NA19054.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	5	342	0.0146	542	c.366 others(559): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACACATATGTATACAGATCTGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATCTGTATACATATGTATACAGATCTGTA TACACATATGTATACAGATATGTATACATATGTATACAGATATGTATACA GATATGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TATGTATACACATATGTATACAGATATGTATACACATATGTATATACAGA TATGTATACACATATGTATATACAGATATGTATACACATATGTATACAGA TATGTATACATATGTATACAGATCTGTATATACATATGTATACAGATATG TATATACATATGTATACAGATATGTATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATA TACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(535): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATATACATATCT GTATACATATGTATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATATACATATCTGTATACATATGTATACATATCTGTATACAT ATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATGTGTATACATATCTGTATACATATCTGTATACATATGTATACATATCT GTATACATATGTGTATACAGATCTGTATACATATGTATACAGATCTGTAT ACATATGTGTATACATATCTGTATACATATGTGTATACAGATCTGTATAC ATATGTGTATACATATCTGTATACATATGTATACATATCTGTATACATAT GTATACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	342	0.0029	542	c.366 others(559): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACACATATGTATACAGATCTGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATCTGTATACATATGTATACAGATCTGTA TACACATATGTATACAGATATGTATACATATGTATACAGATATGTATACA GATATGTATACACATATGTATACAGATATGTATACACATATGTATACAGA TATGTATACACATATGTATATACAGATATGTATACACATATGTATATACA GATATGTATACACATATGTATACAGATATGTATACATATGTATACAGATA TGTATATACATATGTATACAGATATGTATATACATATGTATACAGATATG TATACATATGTATACAGATATGTATATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATATACAGATATGTATACAGATATGTATA TACAGATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C7orf50_chr7_992006_1143247	1115937	G G	GGCTTCCA others(535): Show GGCTTCCATCACCAACGCCCACGCAGGATGATGACATCACTGCAGCTCTA CGGACCGGCTTCCAGCACCGACGCCCACGCAGGATGATGACATCACTACA GCTCTACGGACCCGCTTCCATCACCGACGCCCACGCAGGATGATGACATC ACTACAGCTCTAGGGACCGGCTTCCATCACCAATGCCCATGCAGGATGAC ATAACTACAGCTCTACGGACCGGCTTCCATCACCAACGCCCACGCAGGAT GACATCACTACAGCTCTAGGGACTGGCTTCCATCACCAACGCCCACGCAG GATGACTTCACTACAGCTCTACGGACCGGCTTCCATCACCGACGCCCACG CAGGATGATGACATCACTACAGCACTACGGACCGGCTTCCATCACCAACG CCCACGCAGGATGACATCACTACAGCTCTAGGGATGGCTTCCATCACTGA CGCCCACGCAGGATGATGACATCACTACAGCTCTAGGACCGGCTTCCATC ACCAACGCCCACGCAGGATGACATCACTAAAGCTCTAGGGACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0306 a0001c0001t0005g0306	1	326	0.0031	542	c.129 others(561): Show c.129+11319_129+11320insTGTCCCTAGAGCTTTAGTGATGTCAT CCTGCGTGGGCGTTGGTGATGGAAGCCGGTCCTAGAGCTGTAGTGATGTC ATCATCCTGCGTGGGCGTCAGTGATGGAAGCCATCCCTAGAGCTGTAGTG ATGTCATCCTGCGTGGGCGTTGGTGATGGAAGCCGGTCCGTAGTGCTGTA GTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGA GCTGTAGTGAAGTCATCCTGCGTGGGCGTTGGTGATGGAAGCCAGTCCCT AGAGCTGTAGTGATGTCATCCTGCGTGGGCGTTGGTGATGGAAGCCGGTC CGTAGAGCTGTAGTTATGTCATCCTGCATGGGCATTGGTGATGGAAGCCG GTCCCTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGG AAGCGGGTCCGTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGG TGCTGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGG CGTTGGTGATGGAAGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1116210	T T	TGGCTTCC others(535): Show TGGCTTCCATCACCAACGCCCACGCAGGATGACTTCACTACAGCTCTACG GACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTACAGC ACTACGGACCGGCTTCCATCACCAACGCCCACGCAGGATGACATCACTAC AGCTCTAGGGATGGCTTCCATCACTGACGCCCACGCAGGATGATGACATC ACTACAGCTCTAGGACCGGCTTCCATCACCAACGCCCACGCAGGATGACA TCACTAAAGCTCTAGGGACGGCTTCCATCACCAACGCCCACGCAGGATGA TGACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGACGCCCACGCA GGATGATGACATCACTACAGCTCTACGGACCCGCTTCCATCACCGACGCC CACGCAGGATGATGACATCACTACAGCTCTAGGGACCGGCTTCCATCACC AATGCCCATGCAGGATGACATAACTACAGCTCTACGGACCGGCTTCCATC ACCAACGCCCACGCAGGATGACATCACTACAGCTCTAGGGACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	326	0.0031	542	c.129 others(561): Show c.129+11046_129+11047insGGTCCCTAGAGCTGTAGTGATGTCAT CCTGCGTGGGCGTTGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTTATGT CATCCTGCATGGGCATTGGTGATGGAAGCCGGTCCCTAGAGCTGTAGTGA TGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCGGGTCCGTAGAGCTG TAGTGATGTCATCATCCTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTA GAGCTGCAGTGATGTCATCATCCTGCGTGGGCGTTGGTGATGGAAGCCGT CCCTAGAGCTTTAGTGATGTCATCCTGCGTGGGCGTTGGTGATGGAAGCC GGTCCTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCAGTGATGG AAGCCATCCCTAGAGCTGTAGTGATGTCATCCTGCGTGGGCGTTGGTGAT GGAAGCCGGTCCGTAGTGCTGTAGTGATGTCATCATCCTGCGTGGGCGTC GGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGAAGTCATCCTGCGTGGGC GTTGGTGATGGAAGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CCDC183_chr9_136791338_136812741	136803290	C C	CCCAGGGC others(535): Show CCCAGGGCCGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0345 a0001c0001t0002g0345	1	398	0.0025	542	c.666 others(557): Show c.666+511_666+512insCGGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC6_chr10_59783747_59911556	59882095	G G	GGGAGAAG others(535): Show GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAG GAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGG AAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCC AGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGAAAAGCCGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0098 a0001c0005t0004g0098	1	288	0.0035	542	c.303 others(561): Show c.303+24026_303+24027insGCGGCTTTTCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133214072	C C	CTATATAT others(535): Show CTATATATAGTAGTTATACATACTATATATACACTATATATAGTAGTTAT ACATACACTATATAGTAGTTATATATACTACATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATAAACTATATATAGTGT TATATATACTACTATATATACTACTATATATAGTATATACTATATATACA CTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTAT ATACTACTATATATACTACTATATATAGTATATACTATATATACACTATA TATACACTATATATAGCATATATACTATATATACACTATATATAGTAGTT ATATATACTATATATACACTATACATACACTATATATAGTTTATATATAC TATATATAGTAGTTATATATACTATATATACTATATATAGTAGTTATATA TACTATATATACTATATGTAGTTTATATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02723.hp1 others(3): Show HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02970.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0010 a0001c0001t0006 a0001c0002t0010	a0001c0001t0006g0081 a0001c0001t0006g0143 a0001c0001t0006g0235 others(3): Show a0001c0001t0006g0081 a0001c0001t0006g0143 a0001c0001t0006g0235 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0002t0010g0282	6	396	0.0152	542	c.349 others(557): Show c.349+946_349+947insCATACTATATATACACTATATATAGTAGTT ATACATACACTATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATAAACTATATATAGT GTTATATATACTACTATATATACTACTATATATAGTATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTACTATATATACTACTATATATAGTATATACTATATATACACTA TATATACACTATATATAGCATATATACTATATATACACTATATATAGTAG TTATATATACTATATATACACTATACATACACTATATATAGTTTATATAT ACTATATATAGTAGTTATATATACTATATATACTATATATAGTAGTTATA TATACTATATATACTATATGTAGTTTATATATATACTATATATAGTATAT ATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CELF2_chr10_11012872_11341675	11107986	A A	ACTTCCCT others(535): Show ACTTCCCTCCCTCCCTCTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCC CCTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCC CACTTCCCCCTTCTTCCCCCCCTTCCCCACTTCCCCCTTCTTCCCCTTCC TACTCCCCCTCCCCCTTCCCACTCCCCCTTCCCCTTCCCACTCCCCCTTC CCCCTTCCCACTCCCCCTTCCCACTTCCCACTCCCCCCTTCCCCCTTCCT ACTCCCCCTTCCCCCTCTTCCTACTGCCCCTTCTCCCTCTTCCTACTTTC TACTCTCCCTTCCTCCTTCCCCCTACCGTCTTCCCCTCTCCCCCTCTCCC TACTCCCTCCATCTCCGCCTCTCCCCACTCCCCACTCCCTCCCTCTCCCT ACTCCCCACTCCCTCCTTCTCCCCCCTCTCCCCACTCCCTCCCTCTCCCC CTCTCCCTCTCTCCCCACTCTCTCCCTCTCCCCACTCCGCACTCCCTCCC TCTCCCCCCCTCCCCACTCCCCACTCCCTCCCTCTTCCCCCCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	194	0.0052	542	c.75- others(559): Show c.75-57499_75-57498insTTCCCTCCCTCCCTCTCCCCCTTCTTCC CCTCCCCTTCCCCACTTCCCCCTTCTTCCCCTCCCCTTCCCCACTTCCCC CTTCTTCCCCTCCCCTTCCCCACTTCCCCCTTCTTCCCCCCCTTCCCCAC TTCCCCCTTCTTCCCCTTCCTACTCCCCCTCCCCCTTCCCACTCCCCCTT CCCCTTCCCACTCCCCCTTCCCCCTTCCCACTCCCCCTTCCCACTTCCCA CTCCCCCCTTCCCCCTTCCTACTCCCCCTTCCCCCTCTTCCTACTGCCCC TTCTCCCTCTTCCTACTTTCTACTCTCCCTTCCTCCTTCCCCCTACCGTC TTCCCCTCTCCCCCTCTCCCTACTCCCTCCATCTCCGCCTCTCCCCACTC CCCACTCCCTCCCTCTCCCTACTCCCCACTCCCTCCTTCTCCCCCCTCTC CCCACTCCCTCCCTCTCCCCCTCTCCCTCTCTCCCCACTCTCTCCCTCTC CCCACTCCGCACTCCCTCCCTCTCCCCCCCTCCCCACTCCCCACTCCCTC CCTCTTCCCCCCCC	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(535): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCCTCCCT CCCCCCTTCCTCCGTCCCCCTTCCTCCCCTCCCCCTTCTTCCCTCCTCCC TTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCC TCCCTCCCTCCTCCCTTCCCCCTTCCCCCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCC TCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCTTCCTCTCTTCCTCCTT CCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0016 a0002c0001t0002g0016	1	354	0.0028	542	c.69 others(553): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCT TCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTC CCCCCTTCCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTC CCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTC CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCC TCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCTT CCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCT TTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251516	A A	AAAATAAA others(535): Show AAAATAAATATTTATTTTATATATAAAATAAATATTTATTTTAATATTAA AATAAATATTTATTTTATATATTAAATAAATATTTATTTTATATATTAAA ATAAATATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAAT AAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAA TATTTATTTTATTTATTTATTTTAATATATAAAATATTTTATTTATTTAT TTTAATATATAAAATATTTATTTTATTTATTATTTTAATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	402	0.0025	542	c.80- others(557): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATA TTTTATTTATTTATTTTAATATATAAAATATTTATTTTATTTATTATTTT AATATATAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(535): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTG TATATACACGTATATATACTCATATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02155.hp2 HG02027.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0184 a0001c0001t0002g0175 a0001c0001t0002g0184	2	372	0.0054	542	c.894 others(557): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGT ATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTAT ATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575631	T T	TATATATA others(535): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTG TATATACACGTATATATACTCATATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	372	0.0027	542	c.894 others(557): Show c.894+639_894+640insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGT ATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTAT ATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(535): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTC CCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCTTCCTCCT CTTCCTCCCCCTCTTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCC CCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTC CTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0080 a0001c0001t0012g0080	1	270	0.0037	542	c.162 others(563): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCC TCTTCCTCCCCCTCTTCCTCCTCTTCCTCCCCCTCTTCCTCCTCTTCCTC CTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCC TCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(535): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTC TTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCT CCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCC CCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTC CTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0255 a0001c0002t0004g0255	1	270	0.0037	542	c.162 others(563): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTC CCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTC CCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTT CCTCTTCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCC TCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCT CCTCCTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCC TCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTCCCTCT others(535): Show CTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCT CTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	223	0.0045	542	c.-42 others(553): Show c.-4215_-4214insTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(535): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA TAATATATATAATATATATATAACATATATATAATATATATAACATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATAA TATATATATAACATATATATATAATATATATATAACATATATATAATATA TATAACATATATATAATATATATAACATATATATAATATATATATAACAT ATATATAATATATATATAACATTTATAATATATATATAACATATATATAA TATATATATAACATATATATATTATATATATAACATATATATATTATATA TATATAACATATATATAATATATATAACATATATATATAATATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATTATATATATAACATATATATTATATATATAACATATATATTA TATATATAACATATATATAATATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	232	0.0043	542	c.358 others(561): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATATAATATATATAATATATATATAACATATATATAATA TATATAACATATATATAATATATATAACATATATATATAATATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATAATATATATAACATATATATAATATATATAACATATATATAA TATATATATAACATATATATAATATATATATAACATTTATAATATATATA TAACATATATATAATATATATATAACATATATATATTATATATATAACAT ATATATATTATATATATATAACATATATATAATATATATAACATATATAT ATAATATATATATAACATATATATATAATATATATATAACATATATATAT AATATATATATAACATATATATTATATATATAACATATATATTATATATA TAACATATATATTATATATATAACATATATATAATATATATATAACATAT ATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL4A1_chr13_110143963_110312157	110255903	A A	AAGGGGGA others(535): Show AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0001 a0004c0025t0001	a0004c0025t0001g0042 a0004c0025t0001g0042	1	344	0.0029	542	c.85- others(559): Show c.85-13170_85-13169insCTCCCTTCCTGCCTTCCCCCCTCCCTTC CTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCC TTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTT CCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CROCC2_chr2_240901336_240998311	240924203	C C	CCCCCACA others(535): Show CCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACC CAGCCCCCAACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGTCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCC CCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGG CCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAAC CCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCACACTAA CCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCACAC TGACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0001 a0019c0015t0001	a0019c0015t0001g0028 a0019c0015t0001g0028	1	350	0.0029	542	c.489 others(559): Show c.489-1517_489-1516insACACTAACCCGGCCCCCCACACTAACCC AGCCCCCCACACTAACCCAGCCCCCAACACTAACCCAGTCCCCACACTAA CCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCAACAC TAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAAC CCGGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAA CCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACT GACCCGGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCCAC ACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(535): Show GCTATAACCACCACCACCATTATAACCATCACCACCATCACCACTATAAC CACCATCATCATCACCACCACTACCACTACTACAACCATTACCACCATCA CTGCTATAACCACCACCACCATTATAACCATCACCACCATCACCACTATA ACCACCATCATCATCACCACCACTACCACTACTATAACCATTACCACCAT TACTACTATAACCACCACCACCACCACCACCACCACTATAATCATTACCA CTATAACCACCACTACCACCACTACCACTATGATAACCATCACCAACACC ACTATAACCACCAATGCCAAGAAGTGTTCATAGCAGGAGTCATAAACACA GGACCAACCAGGGATAGGACCAACCAGGACCAACCAGGACCAACACCACC ACCACTACTACCACTACTATAACCATCACCACCATCACTGCTATAATCAC CACCACCACCACCATCACTATAATCATCACCATCATCACCACTATAACCA CCACCACCACCACCACCACCAGTTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0158 a0001c0006t0010g0158	1	230	0.0044	542	c.724 others(561): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAACTGGT GGTGGTGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAG TGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATA GTAGTGGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTC CTATCCCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTG GCATTGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGT GGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGG TGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTG GTGATGATGATGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAATGGT GGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTGG TGGTGATGATGATGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAATG GTGGTGGTGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DLGAP2_chr8_732628_1713476	1097901	C C	CACTCAGT others(535): Show CACTCAGTAGAGTGGAGCTGGGAGCCCCGGGGCAGGCCTTCACCCTCTGT GGCATGGAGAGGTCCCCTCCAGTGTGAGACCCACCTCCCTGCACTCAGTA GAGTGGAGCTGGGAGCCCCGGGGCAGGCCTTCACCCTCTGTGGCATGGAG AGGTCCCCTCCAGCGTGAGACCCAGCTCCCTCTGCTCAGGAGAGTCGAGC TGGGAGCCCGGGGCAGGCCTTCACCCTCTGTGGCATGGAGAGGTCTCCTC CAGTGTGAGACCCACCTCCCTGTGCTCAGGAGAGTCTAGCTGGGAGCCCG GGGCAGGCCTTCACCCTCTGTGGCATGGAGAGGTCCCCTCCAGCGTGAGA CCCAGCTCCCTCTGCTCAGGAGAGTCGAGCTGGGAGCCTGGGGCAGGCCT TCGCCCTCTGTGGCATGGAGAGGTCTCCTCCAGTGTGAGACCCACCTCCC TCTGCTCAGGAGAGTCGAGCTGGCAGCCCGGGGCAGGCCTTCACCGTCTG TGGCATGGAGAGGTCCCCTCCAGTGTGAGACCCACCTCCCTGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18906.hp1 HG02895.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0008 a0001c0003 a0004c0008	a0001c0003t0001 a0004c0008t0016 a0001c0003t0001 a0004c0008t0016	a0001c0003t0001g0027 a0004c0008t0016g0029 a0001c0003t0001g0027 a0004c0008t0016g0029	2	40	0.0500	542	c.74- others(561): Show c.74-160950_74-160949insACTCAGTAGAGTGGAGCTGGGAGCCC CGGGGCAGGCCTTCACCCTCTGTGGCATGGAGAGGTCCCCTCCAGTGTGA GACCCACCTCCCTGCACTCAGTAGAGTGGAGCTGGGAGCCCCGGGGCAGG CCTTCACCCTCTGTGGCATGGAGAGGTCCCCTCCAGCGTGAGACCCAGCT CCCTCTGCTCAGGAGAGTCGAGCTGGGAGCCCGGGGCAGGCCTTCACCCT CTGTGGCATGGAGAGGTCTCCTCCAGTGTGAGACCCACCTCCCTGTGCTC AGGAGAGTCTAGCTGGGAGCCCGGGGCAGGCCTTCACCCTCTGTGGCATG GAGAGGTCCCCTCCAGCGTGAGACCCAGCTCCCTCTGCTCAGGAGAGTCG AGCTGGGAGCCTGGGGCAGGCCTTCGCCCTCTGTGGCATGGAGAGGTCTC CTCCAGTGTGAGACCCACCTCCCTCTGCTCAGGAGAGTCGAGCTGGCAGC CCGGGGCAGGCCTTCACCGTCTGTGGCATGGAGAGGTCCCCTCCAGTGTG AGACCCACCTCCCTGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCT others(535): Show CCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0149 a0002c0002t0004g0149	1	250	0.0040	542	c.-10 others(561): Show c.-107+5533_-107+5534insTGCTCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(535): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAAGTCTTGTATA CAAAGACTTTGTATACAAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACA GTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0027 a0027	a0027c0031 a0027c0031	a0027c0031t0001 a0027c0031t0001	a0027c0031t0001g0072 a0027c0031t0001g0072	1	208	0.0048	542	c.282 others(561): Show c.2827+3718_2827+3719insAGTCTTGTATACAAAGACTTTGTATA CAAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTA TACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCT TGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACA GTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTA TACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTT TGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAG ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
GNG7_chr19_2506219_2707694	2548768	G G	GCAGAGTG others(535): Show GCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAA AAGAAAAAAAACCCAATAGCAAATAATGGGATGAATGTAAGTTTTAGAGA CTTGCCGCTGTGAAGAGCTAAGTCTAAGGGAGGGGTCTCAACTAGAGGGG ACCGTGACACCCTCCTAGGAGACACTGGGTGATGTCAGGGGACATTTGTG GTTGTTATGACTTGGGGGTGCTCCTGGCATGGAGTGGGTGGAGGCCGGGG ACGCTGCTCAGCACCCTGCAGTGCCCGGGATGGCCAGCGCGGTGGCTCAC GCCTGTAGTTCCAGCACTTTAGGAGGCCAAAGCGGGTGGATCATTTGAGG TCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATATCCACT AAAAATACAAAAAGTAGCCGGGGGTGATGGCGCCTGTCTGAAATTCCAGC TACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGT GGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0164 a0001c0001t0008g0045 a0001c0001t0008g0164	2	206	0.0097	542	c.-38 others(559): Show c.-38+6380_-38+6381insTCACCCAGGCTGGAGTGCAGTGGCATGA TCTCGGCTCACTGCCACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCC TCAGCCTCCCAAGTAGCTGGAATTTCAGACAGGCGCCATCACCCCCGGCT ACTTTTTGTATTTTTAGTGGATATGGGGTTTCACCATGTTGCCCAGGCTG GTCTTGAACTCCTGACCTCAAATGATCCACCCGCTTTGGCCTCCTAAAGT GCTGGAACTACAGGCGTGAGCCACCGCGCTGGCCATCCCGGGCACTGCAG GGTGCTGAGCAGCGTCCCCGGCCTCCACCCACTCCATGCCAGGAGCACCC CCAAGTCATAACAACCACAAATGTCCCCTGACATCACCCAGTGTCTCCTA GGAGGGTGTCACGGTCCCCTCTAGTTGAGACCCCTCCCTTAGACTTAGCT CTTCACAGCGGCAAGTCTCTAAAACTTACATTCATCCCATTATTTGCTAT TGGGTTTTTTTTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTGAGAC AGAGTCTCACTCTG	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	3/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2548768	G G	GCAGAGTG others(535): Show GCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAAA AAGAAAAAAAACCCAATAGCAAATAATGGGATGAATGTAAGTTTTAGAGA CTTGCCGCTGTGAAGAGCTAAGTCTAAGGGAGGGGTCTCAACTAGAGGGG ACCGTGACACCCTCCTAGGAGACACTGGGTGATGTCAGGGGACATTTGTG GTTGTTATGACTTGGGGGTGCTCCTGGCATGGAGTGGGTGGAGGCCGGGG ACGCTGCTCAGCACCCTGCAGTGCCCGGGATGGCCAGCGCGGTGGCTCAC GCCTGTAGTTCCAGCACTTTAGGAGGCCAAAGCGGGTGGATCATTTGAGG TCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATATCCACT AAAAATACAAAAAGTAGCCGGGGGTGGTGGCGCCTGTCTGAAATTCCAGC TACTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGT GGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGTGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0054 a0001c0001t0049g0054	1	206	0.0049	542	c.-38 others(559): Show c.-38+6380_-38+6381insTCACCCAGGCTGGAGTGCAGTGGCATGA TCTCGGCTCACTGCCACCTCCGCCTCCTGGGTTCAAGCGATTCTTCTGCC TCAGCCTCCCAAGTAGCTGGAATTTCAGACAGGCGCCACCACCCCCGGCT ACTTTTTGTATTTTTAGTGGATATGGGGTTTCACCATGTTGCCCAGGCTG GTCTTGAACTCCTGACCTCAAATGATCCACCCGCTTTGGCCTCCTAAAGT GCTGGAACTACAGGCGTGAGCCACCGCGCTGGCCATCCCGGGCACTGCAG GGTGCTGAGCAGCGTCCCCGGCCTCCACCCACTCCATGCCAGGAGCACCC CCAAGTCATAACAACCACAAATGTCCCCTGACATCACCCAGTGTCTCCTA GGAGGGTGTCACGGTCCCCTCTAGTTGAGACCCCTCCCTTAGACTTAGCT CTTCACAGCGGCAAGTCTCTAAAACTTACATTCATCCCATTATTTGCTAT TGGGTTTTTTTTCTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTGAGAC AGAGTCTCACTCTG	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	3/4			chr19	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(535): Show TATATATTAATATATATTTATATTTATTTATAAATAAATATATATTAATA TATATTTATATTTATTTATTAATAAATATATATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATAAATATATA TTTATATTTATTTATAAATATATATTTATATTTATTTATATATAAATATA TATAAATCTATATTTATAGTTATTTATATATAAATATATAAATCTATATA TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATAAATATAGATTTATATATATT TATATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTA TATAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATA TTTATATATAAATAACTATATAGATTTATATATATTTATTTATAAATAAC TATAAATATAGATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	208	0.0048	542	c.-97 others(559): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATAAA TAAATATATATTAATATATATTTATATTTATTTATTAATAAATATATATA AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTATAAATATATATTTATATTTA TTTATATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAA TATATAAATCTATATATATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAATA TAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATATT TATATATAAATAACTATATAGATTTATATATATTTATATATAAATAACTA TATAGATTTATATATATTTATATATAAATAACTATATAGATTTATATATA TTTATTTATAAATAACTATAAATATAGATTTATATATATTTATTTATAAA TAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)