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
TNK2_chr3_195858364_195913551	195881585	A A	ACCCGCCC others(302): Show ACCCGCCCCCCAGCAATGCCCCTTGAAGAGGACACGGCATCTATCCCTGT AACACCCCCCCAGCGATGCCCCTTGGAGAGGACACAGGATCTGTCCCTCT AACACCCCCCCCAGCAACGCCCCTTGAAGAGGACACGGCATCTATCCCTG TAACACCCGCCCCCCAGCAATGCCCCTTGAAGAGGACACAGCATCTATCC CTGTAACACCCCCCCCAGCGATGCCCCTTGGAGAGGACACAGCATCTATC CCTGTAACACCCCCCCAGCGATGCCCCTTGAAGAGGACACGGCATCTATC CCTGTAACAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0022 a0022	a0022c0055 a0022c0055	a0022c0055t0003 a0022c0055t0003	a0022c0055t0003g0153 a0022c0055t0003g0153	1	372	0.0027	309	c.887 others(324): Show c.887+465_887+466insGTGTTACAGGGATAGATGCCGTGTCCTCTT CAAGGGGCATCGCTGGGGGGGTGTTACAGGGATAGATGCTGTGTCCTCTC CAAGGGGCATCGCTGGGGGGGGTGTTACAGGGATAGATGCTGTGTCCTCT TCAAGGGGCATTGCTGGGGGGCGGGTGTTACAGGGATAGATGCCGTGTCC TCTTCAAGGGGCGTTGCTGGGGGGGGTGTTAGAGGGACAGATCCTGTGTC CTCTCCAAGGGGCATCGCTGGGGGGGTGTTACAGGGATAGATGCCGTGTC CTCTTCAAGGGGCATTGCTGGGGGGCGGG	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TNS3_chr7_47270154_47587111	47552027	A A	AAAGGGGC others(302): Show AAAGGGGCGGCATTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTGG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02055.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0013 a0001c0001t0029 a0001c0002t0013	a0001c0001t0029g0011 a0001c0002t0013g0086 a0001c0001t0029g0011 a0001c0002t0013g0086	2	196	0.0102	309	c.-26 others(330): Show c.-264-22881_-264-22880insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAGAATGCCGCCCCTT	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	1/30			chr7	TogoVar
TOMM5_chr9_37583413_37597597	37594237	G G	GCCATATC others(302): Show GCCATATCTACTTCTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01192.hp2 HG01496.hp1 others(5): Show HG00280.hp1 HG01192.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG02145.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0003t0001g0033 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0003t0001g0033	8	356	0.0225	309	c.-17 others(320): Show c.-1706_-1705insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAAAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCCAA AAAAAAAAAAAAGAAGTAGATATGG	TOMM5	ENSG00000175768.13	transcript	ENST00000321301.7	protein_coding		1641		chr9	TogoVar
TOMM7_chr7_22807974_22827849	22813860	A A	AAAATGTA others(302): Show AAAATGTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC GGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp2 NA19078.hp1 HG01943.hp1 HG01993.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0117 a0001c0001t0001g0144 a0001c0001t0001g0145	3	420	0.0071	309	c.153 others(324): Show c.153-676_153-675insCTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTGGGCTACATTT	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar
TPM3_chr1_154156813_154197100	154176666	A A	AAAAAAGC others(302): Show AAAAAAGCAAGGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	372	0.0027	309	c.244 others(324): Show c.244-419_244-418insCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC AGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAACCTTGCTTTTT	TPM3	ENSG00000143549.22	transcript	ENST00000651641.1	protein_coding	2/9			chr1	TogoVar
TPTE2_chr13_19417877_19566532	19526434	T T	TAAAAATT others(302): Show TAAAAATTATTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02109.hp1 others(9): Show HG00735.hp1 HG01891.hp1 HG02109.hp1 HG02559.hp1 HG02647.hp2 HG02896.hp2 HG03130.hp2 HG03209.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(9): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0187	12	222	0.0541	309	c.-43 others(328): Show c.-43-23158_-43-23157insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGAATAATTTTT	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TRIM28_chr19_58539064_58555715	58539639	C C	CCACACAG others(302): Show CCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACC CTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTC AGACAGGATTCTCCCCACACACACTCTGCTTCCCTCCTCAGACAGGATTC TCCCCACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAAAC ACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAGAGACCCTGCTTCC CTCCTCAGACAGGATGCTCCCCACACACACCCTGCTTCCCTCCTCAGACA GGATTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	402	0.0025	309	c.-51 others(320): Show c.-5119_-5118insCACACAGAACCTGCTTCCCTCCTCAGACAGGATT CTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCCCACA CACCCTGCTTCCCTCAGACAGGATTCTCCCCACACACACTCTGCTTCCCT CCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCCTCCTCAGACAGG ATTCTCCCCACAAACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCAC AGAGACCCTGCTTCCCTCCTCAGACAGGATGCTCCCCACACACACCCTGC TTCCCTCCTCAGACAGGATTCTTCT	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4424		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58541463	C C	CACCCTGC others(302): Show CACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTACTTC CCTCCTCAGACAGGATGCTCCCCCCACACACCCTGCTTCCCTCCTCAGAC AGGATTCTCCCCCCACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCC CCCACACATCCTGCTTCCCTCCTCAGACAGGATTCTCCCTACACAGAACC TGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCCCTCC TCAGACATGATTCTTCTCACACACACCCTGCTTCCCTCAGACAGGATTCT CCCCACACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	309	c.-32 others(320): Show c.-3295_-3294insACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCA CACAGACCCTACTTCCCTCCTCAGACAGGATGCTCCCCCCACACACCCTG CTTCCCTCCTCAGACAGGATTCTCCCCCCACACACCCTGCTTCCCTCCTC AGACAGGATTCTCCCCCCACACATCCTGCTTCCCTCCTCAGACAGGATTC TCCCTACACAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAC ACCCTGCTTCCCTCCTCAGACATGATTCTTCTCACACACACCCTGCTTCC CTCAGACAGGATTCTCCCCACACAG	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		2600		chr19	TogoVar
TSPAN11_chr12_30921748_31001599	30967795	T T	TGGCCTAG others(302): Show TGGCCTAGAATCTGCTTTCTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCC	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0141 a0002c0002t0007g0141	1	394	0.0025	309	c.276 others(326): Show c.276+3799_276+3800insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTAGAATCTGCTTTCTTT	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3198730	C C	CCAGCACA others(302): Show CCAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGC ACAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACA GGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGG TCACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTC ACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCAC CACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCA CCAGCACCAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	288	0.0035	309	c.-17 others(326): Show c.-17-2423_-17-2422insGTCACCAGCACAGGCCACCACCAGCACA GGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGC CACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCA CCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTCACC ACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCACCAC CAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCA GCACCATCAGCACAGGCCACCACCAGCACAG	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN9_chr12_3072379_3291559	3198730	C C	CCAGCACA others(302): Show CCAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGC ACAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACA GGTCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGG CCACCACCAGCACAGCTCACCACCAGCACAGCTCACCACCAGCACAGGCC ACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCAC CACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCA CCAGCACCAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0104 a0001c0001t0002 a0001c0001t0008 a0001c0001t0104	a0001c0001t0002g0146 a0001c0001t0008g0109 a0001c0001t0104g0177 a0001c0001t0002g0146 a0001c0001t0008g0109 a0001c0001t0104g0177	3	288	0.0104	309	c.-17 others(326): Show c.-17-2423_-17-2422insGTCACCAGCACAGGCCACCACCAGCACA GGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGT CACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCA CCACCAGCACAGCTCACCACCAGCACAGCTCACCACCAGCACAGGCCACC ACCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGTCACCAC CAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCA GCACCATCAGCACAGGCCACCACCAGCACAG	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(302): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTT CCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCT TACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0100 a0004c0005t0001g0100	1	334	0.0030	309	c.657 others(324): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC28_chr22_27973014_28684840	28607109	T T	TTCTCCCC others(302): Show TTCTCCCCAGTTTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCAACGCCATTCTCCTGCCTCAGCCTCC CCAGTAGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0163 a0001c0003t0002g0163	1	196	0.0051	309	c.381 others(328): Show c.381+22442_381+22443insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCTACTGGGGAGGCTGAGGCAGGA GAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAATAAACTGGGGAGA	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTLL11_chr9_121810674_122098308	121971182	C C	CTGCCCGG others(302): Show CTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCG TCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01074.hp1 others(24): Show HG00639.hp2 HG01071.hp2 HG01074.hp1 HG01175.hp2 HG01517.hp2 HG01975.hp2 HG02109.hp1 HG02723.hp2 HG02735.hp2 HG02970.hp2 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp2 HG04199.hp2 NA18968.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0011	a0001c0001 a0002c0003 a0003c0002 others(3): Show a0001c0001 a0002c0003 a0003c0002 a0004c0005 a0008c0014 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015 a0001c0001t0040 a0001c0001t0049 a0001c0001t0052 a0002c0003t0002 a0003c0002t0005 a0004c0005t0001 a0008c0014t0002 a0011c0017t0002	a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0115 others(24): Show a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0002g0088 a0001c0001t0002g0097 a0001c0001t0002g0147 a0001c0001t0003g0071 a0001c0001t0003g0082 a0001c0001t0003g0089 a0001c0001t0003g0102 a0001c0001t0003g0106 a0001c0001t0005g0136 a0001c0001t0006g0134 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0015g0067 a0001c0001t0015g0081 a0001c0001t0040g0137 a0001c0001t0049g0094 a0001c0001t0052g0107 a0002c0003t0002g0022 a0003c0002t0005g0170 a0004c0005t0001g0025 a0008c0014t0002g0090 a0011c0017t0002g0173	27	174	0.1552	309	c.148 others(328): Show c.1481+2826_1481+2827insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCTGGACGGGGCGGCTGGCCGGGCA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028644	A A	ACCCCCAT others(302): Show ACCCCCATCACACCGTCCTGAAGACCCACACATACCCTCGTAAAGACCCC ATCACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCAC ACCATCCTAAAGACCCCCACACACACTCGTAGAGACCCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAG ACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCA CACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCC TCGTAAAGAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0196 a0019c0019t0001g0196	1	224	0.0045	309	c.225 others(328): Show c.2251+1785_2251+1786insGTCTTTACGAGGGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATG GTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTCTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTA CGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TATGTGTGGGTCTTCAGGACGGTGTGATGGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133291532	C C	CCGTGTCC others(302): Show CCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCTC CGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCG TGTCCCTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTG TCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCTCCGTGT CCCCCATGTCCCTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCC CTCCGTGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCTCCGTGTCCC CCATGTCCCT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	284	0.0035	309	c.121 others(326): Show c.1214+966_1214+967insAGGGACATGGGGGACACGGAGGGACACG GAGGGACATGGGGGACACGGAGGGACACGGAGGGACACGGAGGGACATGG GGGACACGGAGGGACACGGAGGGACATGGGGGACACGGAGGGACACGGAG GGACACGGAGGGACATGGGGGACACGGAGGGACACGGAGGGACATGGGGG ACACGGAGGGACACGGGGGACACGGAGGGACACGGAGGGACATGGGGGAC ACGGAGGGACACGGAGGGACATGGGGGACACGGAGGGACACGGAGGGACA CGGAGGGACATGGGGGACACGGAGGGACACG	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TWIST2_chr2_238843085_238915534	238870595	C C	CACCACAC others(302): Show CACCACACACACACATCACATACCACACACCCGACACACGCCACACACAC ACCATACACCCCCCACACACCACACCCCACACACCATACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACAAACCACACACCCCACACACACCACACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACACCCCACACACACCACACACA CACATCACAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	338	0.0030	309	c.35 others(328): Show c.35+21862_*35+21863insACCACACACACACATCACATACCACA CACCCGACACACGCCACACACACACCATACACCCCCCACACACCACACCC CACACACCATACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACAAACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACACACACATCACAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBR2_chr6_42559029_42698505	42658506	T T	TAAGAGTC others(302): Show TAAGAGTCTTTTCTCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03209.hp1 NA19240.hp1 HG02717.hp2 HG03209.hp1 NA19240.hp1	a0003 a0006 a0003 a0006	a0003c0008 a0006c0023 a0003c0008 a0006c0023	a0003c0008t0011 a0003c0008t0027 a0006c0023t0023 a0003c0008t0011 a0003c0008t0027 a0006c0023t0023	a0003c0008t0011g0340 a0003c0008t0027g0339 a0006c0023t0023g0001 a0003c0008t0011g0340 a0003c0008t0027g0339 a0006c0023t0023g0001	3	342	0.0088	309	c.306 others(326): Show c.3064-125_3064-124insCACGCCTGTAATCCCAGCACTTTGGGAG GCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCG GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTG CAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAGAGTCTTTTCTCT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	28/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UGT2A1_chr4_69583417_69658247	69611288	T T	TCCAGCTA others(302): Show TCCAGCTATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19089.hp1 HG03710.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0283 a0001c0001t0001g0054 a0001c0001t0001g0283	2	376	0.0053	309	c.848 others(328): Show c.848-11895_848-11894insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAGAATAGCTGG	UGT2A1	ENSG00000173610.13	transcript	ENST00000286604.9	protein_coding	3/6			chr4	TogoVar
UGT2A2_chr4_69583417_69644642	69611288	T T	TCCAGCTA others(302): Show TCCAGCTATTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19089.hp1 HG03710.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0066 a0001c0001t0001g0051 a0001c0001t0001g0066	2	378	0.0053	309	c.743 others(328): Show c.743-11895_743-11894insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAGAATAGCTGG	UGT2A2	ENSG00000271271.6	transcript	ENST00000604629.6	protein_coding	1/5			chr4	TogoVar
USP35_chr11_78183919_78220232	78194138	A A	ACCAACAG others(302): Show ACCAACAGTGAACTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02258.hp1 HG02572.hp2 others(5): Show HG01074.hp2 HG02258.hp1 HG02572.hp2 HG02717.hp1 HG02886.hp2 HG03041.hp1 HG03516.hp1 HG03579.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0023	a0001c0006 a0004c0017 a0009c0016 others(1): Show a0001c0006 a0004c0017 a0009c0016 a0023c0039	a0001c0006t0014 a0004c0017t0034 a0009c0016t0037 others(1): Show a0001c0006t0014 a0004c0017t0034 a0009c0016t0037 a0023c0039t0014	a0001c0006t0014g0048 a0001c0006t0014g0049 a0001c0006t0014g0251 others(3): Show a0001c0006t0014g0048 a0001c0006t0014g0049 a0001c0006t0014g0251 a0004c0017t0034g0250 a0009c0016t0037g0294 a0023c0039t0014g0252	8	416	0.0192	309	c.-10 others(326): Show c.-10-2082_-10-2081insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAACAGTGAACTCTT	USP35	ENSG00000118369.13	transcript	ENST00000529308.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
VIPAS39_chr14_77421675_77462601	77460457	T T	TAAAGAAG others(302): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG02572.hp1 HG02615.hp1 HG01070.hp2 HG02572.hp1 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0001 a0001c0001t0001 a0002c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0074 a0002c0004t0001g0082 a0001c0001t0001g0004 a0001c0001t0001g0074 a0002c0004t0001g0082	3	244	0.0123	309	c.-29 others(320): Show c.-2964_-2963insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC ACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGCACCCTTCTTT	VIPAS39	ENSG00000151445.16	transcript	ENST00000557658.6	protein_coding		2857		chr14	TogoVar
VIPR2_chr7_159023175_159149867	159133030	T T	TGGCATAC others(302): Show TGGCATACAGATTGATTTCAGACAGAATGATTGGCATACAGATTGATTTT AGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATGATTGGCATA CAGATTGATTTCAGACAGAATGATTGGCATACAGATTGATTTCAGACAGA ATGATTGGCATACAGACTGATTTCAGACAGAATGATTGGCATACAGATTG ATTTTAGACAGAATGATTGGCATACAGATTGATTTCAGACAGAATGATTG GCATACAGATTGATTTCAGACAGAATGATTGGCATACAGATTGATTTCAG ACAGAAGGAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0326 a0001c0004t0004g0326	1	336	0.0030	309	c.151 others(326): Show c.151+9415_151+9416insGTCCTTCTGTCTGAAATCAATCTGTATG CCAATCATTCTGTCTGAAATCAATCTGTATGCCAATCATTCTGTCTGAAA TCAATCTGTATGCCAATCATTCTGTCTAAAATCAATCTGTATGCCAATCA TTCTGTCTGAAATCAGTCTGTATGCCAATCATTCTGTCTGAAATCAATCT GTATGCCAATCATTCTGTCTGAAATCAATCTGTATGCCAATCATTCTGTC TGAAATCAATCTGTATGCCAATCATTCTGTCTAAAATCAATCTGTATGCC AATCATTCTGTCTGAAATCAATCTGTATGCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(302): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG01433.hp2 others(3): Show HG01099.hp2 HG01175.hp2 HG01433.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0002c0002t0001	a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0002g0294 others(3): Show a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0004t0002g0319 a0002c0002t0001g0099	6	328	0.0183	309	c.802 others(326): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(302): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00738.hp2 others(8): Show HG00280.hp2 HG00323.hp1 HG00738.hp2 HG01081.hp1 HG01175.hp1 HG01433.hp1 HG01517.hp2 HG02027.hp1 NA18747.hp1 NA18972.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0087 others(8): Show a0001c0001t0001g0063 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0154 a0001c0001t0001g0198 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0322 a0001c0001t0002g0292	11	328	0.0335	309	c.802 others(326): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(302): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	328	0.0031	309	c.802 others(326): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATA others(302): Show CATATATATCATATATATGATACATGTATCATATATGATACATGTATCAT ATATATGATACATGTATCATATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCATATATATGATACATATATATCATATATATGATACATATATATC ATATATATGATACATATATATCATATATATGATACATATATATCATATAT ATGATACATATATATCATATATATGATACATATATATCATATATGATACA TATATATCAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	340	0.0029	309	c.856 others(326): Show c.856+1989_856+1990insATCATATATATGATACATGTATCATATA TGATACATGTATCATATATATGATACATGTATCATATATATGATACATAT ATATCATATATATGATACATATATATCATATATATGATACATATATATCA TATATATGATACATATATATCATATATATGATACATATATATCATATATA TGATACATATATATCATATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCATATATATGATACATATAT ATCATATATGATACATATATATCATATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WT1_chr11_32382775_32440539	32412720	A A	AAATCTAA others(302): Show AAATCTAATTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0234 a0001c0003t0032g0234	1	328	0.0031	309	c.101 others(328): Show c.1016+3769_1016+3770insGTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGAAATTAGATT	WT1	ENSG00000184937.16	transcript	ENST00000452863.10	protein_coding	5/9			chr11	TogoVar
WT1_chr11_32382775_32440539	32412720	A A	AAATCTAA others(302): Show AAATCTAATTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG00735.hp1 others(27): Show HG00642.hp1 HG00733.hp2 HG00735.hp1 HG01361.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp2 HG04199.hp1 NA18961.hp2 NA18987.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008	a0001c0002t0003 a0001c0003t0003 a0001c0003t0009 others(7): Show a0001c0002t0003 a0001c0003t0003 a0001c0003t0009 a0001c0003t0031 a0001c0004t0003 a0001c0004t0018 a0001c0004t0030 a0001c0006t0003 a0001c0006t0009 a0001c0008t0003	a0001c0002t0003g0059 a0001c0002t0003g0068 a0001c0003t0003g0214 others(26): Show a0001c0002t0003g0059 a0001c0002t0003g0068 a0001c0003t0003g0214 a0001c0003t0003g0215 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0252 a0001c0003t0009g0239 a0001c0003t0031g0251 a0001c0004t0003g0016 a0001c0004t0003g0272 a0001c0004t0003g0273 a0001c0004t0003g0293 a0001c0004t0003g0300 a0001c0004t0003g0303 a0001c0004t0018g0295 a0001c0004t0030g0301 a0001c0006t0003g0170 a0001c0006t0009g0178 a0001c0008t0003g0281 a0001c0008t0003g0285 a0001c0008t0003g0287 a0001c0008t0003g0289 a0001c0008t0003g0290 a0001c0008t0003g0292 a0001c0008t0003g0297	30	328	0.0915	309	c.101 others(328): Show c.1016+3769_1016+3770insGTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGAAATTAGATT	WT1	ENSG00000184937.16	transcript	ENST00000452863.10	protein_coding	5/9			chr11	TogoVar
ZBTB7C_chr18_48021672_48414383	48327784	T T	TAAAAGTT others(302): Show TAAAAGTTACTGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0170 a0001c0002t0003g0170	1	174	0.0058	309	c.-79 others(328): Show c.-79+10389_-79+10390insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTAGCAGTAACTTTT	ZBTB7C	ENSG00000184828.10	transcript	ENST00000590800.6	protein_coding	2/4			chr18	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(302): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGG GAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGA GAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGG GAGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	448	0.0022	309	c.-41 others(320): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGACCGTGGGGA GAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGG GAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGA CCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGG GGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGA GAGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZFPM1_chr16_88448280_88542031	88461126	T T	TGGGGCGG others(302): Show TGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGAC CGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTG GTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGG AGACCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAG GGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACC AAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGG TGAGGACCGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	318	0.0031	309	c.40+ others(324): Show c.40+7484_40+7485insGCCTGGTGATGACCGAGGGGTGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGATG GGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGATGACCG AGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGT GAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCT GGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGG GAGACCTGGTGAGGACCGAGGGGCGGGAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF30_chr19_34921903_34950168	34923091	T T	TTGTTATG others(302): Show TTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATGTTATGTTATATT GTATATAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0087 a0003c0003t0002g0087	1	412	0.0024	309	c.-41 others(320): Show c.-4190_-4189insTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATA ACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTAT ATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTA TATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTG TTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAAC ATGTTATGTTATATTGTATATAACA	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3811		chr19	TogoVar
ZNF385B_chr2_179436982_179866612	179477792	A A	AGAAATTT others(302): Show AGAAATTTGTAACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	118	0.0085	309	c.715 others(326): Show c.715+5479_715+5480insCGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAGTTACAAATTTC	ZNF385B	ENSG00000144331.20	transcript	ENST00000410066.7	protein_coding	6/9			chr2	TogoVar
ZNF492_chr19_22629324_22672671	22636886	G G	GGCCTCCC others(302): Show GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAA TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCC CAGGCTGGAGTGCAATAGTGCCATTTCGGCTCACTGCAACCTCCGTCTCC CGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACA GGCATGCGCCACCTCTCCTAGCTAATTTTGTACTTTTAGTAGAGACAGTG TTTCTCCATGTTGGTCAGGCTCGTCTTGACCTCCCGACCTCAGGTGATCC ACTCACCTCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00597.hp2 others(48): Show HG00140.hp2 HG00280.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG02080.hp1 HG02698.hp2 HG02895.hp1 HG02896.hp2 HG03453.hp1 HG03471.hp1 HG03942.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp2 NA19062.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp2 NA20129.hp2	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0011	a0002c0002 a0002c0013 a0005c0005 others(2): Show a0002c0002 a0002c0013 a0005c0005 a0008c0008 a0011c0011	a0002c0002t0003 a0002c0002t0017 a0002c0002t0037 others(7): Show a0002c0002t0003 a0002c0002t0017 a0002c0002t0037 a0002c0013t0003 a0005c0005t0004 a0005c0005t0014 a0005c0005t0018 a0005c0005t0036 a0008c0008t0004 a0011c0011t0004	a0002c0002t0003g0003 a0002c0002t0003g0007 a0002c0002t0003g0008 others(37): Show a0002c0002t0003g0003 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0109 a0002c0002t0017g0096 a0002c0002t0037g0087 a0002c0013t0003g0003 a0005c0005t0004g0017 a0005c0005t0004g0020 a0005c0005t0004g0111 a0005c0005t0004g0112 a0005c0005t0004g0114 a0005c0005t0004g0115 a0005c0005t0004g0116 a0005c0005t0004g0117 a0005c0005t0004g0119 a0005c0005t0004g0120 a0005c0005t0004g0121 a0005c0005t0004g0122 a0005c0005t0004g0123 a0005c0005t0004g0126 a0005c0005t0014g0110 a0005c0005t0018g0017 a0005c0005t0036g0118 a0008c0008t0004g0018 a0011c0011t0004g0113	51	366	0.1393	309	c.-94 others(326): Show c.-94+2449_-94+2450insGTGCCCGGCCAATTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAAT AGTGCCATTTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGGGATTC TCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCTCT CCTAGCTAATTTTGTACTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTC AGGCTCGTCTTGACCTCCCGACCTCAGGTGATCCACTCACCTCAGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF554_chr19_2814868_2841735	2817822	C C	CAGAGCAG others(302): Show CAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATGA CTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCA AGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCA GGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGT CAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAA CTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACA AGGGTGACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG01891.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0008t0010 a0001c0001t0003 a0001c0008t0010	a0001c0001t0003g0168 a0001c0008t0010g0167 a0001c0001t0003g0168 a0001c0008t0010g0167	2	410	0.0049	309	c.-22 others(320): Show c.-2250_-2249insAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCA GGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA CAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATG ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACC AAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCA GGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGG TCAGAGCAGGTGACAAGGGTGACTA	ZNF554	ENSG00000172006.12	transcript	ENST00000317243.10	protein_coding		2045		chr19	TogoVar
ZNF704_chr8_80623451_80879781	80748254	T T	TAAAAGTG others(302): Show TAAAAGTGGGCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAATGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0017 a0001c0001t0044g0017	1	118	0.0085	309	c.222 others(328): Show c.222-55148_222-55147insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCATTGCA AGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGGTGCCCACTTTT	ZNF704	ENSG00000164684.13	transcript	ENST00000327835.7	protein_coding	2/8			chr8	TogoVar
ZNF791_chr19_12605920_12638834	12621714	C C	CGGGGGAG others(302): Show CGGGGGAGGGGGGCGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0227 a0001c0001t0052g0227	1	382	0.0026	309	c.4-1 others(322): Show c.4-1984_4-1983insGGGAGGGGGGCGGTCAGCCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGG	ZNF791	ENSG00000173875.14	transcript	ENST00000343325.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF791_chr19_12605920_12638834	12621722	G G	GGGGCGGT others(302): Show GGGGCGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(30): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01099.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02273.hp1 HG02922.hp1 HG03041.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp1 NA18955.hp1 NA18970.hp2 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19079.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 others(9): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 a0001c0001t0035 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0076 a0001c0001t0077 a0001c0003t0004 a0001c0008t0049	a0001c0001t0004g0132 a0001c0001t0004g0224 a0001c0001t0004g0225 others(30): Show a0001c0001t0004g0132 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0236 a0001c0001t0004g0239 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0258 a0001c0001t0004g0261 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0357 a0001c0001t0008g0229 a0001c0001t0016g0279 a0001c0001t0016g0280 a0001c0001t0018g0232 a0001c0001t0035g0010 a0001c0001t0050g0245 a0001c0001t0051g0269 a0001c0001t0054g0235 a0001c0001t0076g0010 a0001c0001t0077g0145 a0001c0003t0004g0230 a0001c0008t0049g0251	33	382	0.0864	309	c.4-1 others(322): Show c.4-1977_4-1976insGGCGGTCAGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGTG	ZNF791	ENSG00000173875.14	transcript	ENST00000343325.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF791_chr19_12605920_12638834	12621722	G G	GGGGCGGT others(302): Show GGGGCGGTCAGCCCCCCTGCCCGGCCAGCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0274 a0001c0001t0025g0274	1	382	0.0026	309	c.4-1 others(322): Show c.4-1977_4-1976insGGCGGTCAGCCCCCCTGCCCGGCCAGCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGGTGGGGGT GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGTG	ZNF791	ENSG00000173875.14	transcript	ENST00000343325.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF791_chr19_12605920_12638834	12621722	G G	GGGGCGGT others(302): Show GGGGCGGTCAGCCCCCCTGCCCGGTCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0275 a0001c0001t0004g0275	1	382	0.0026	309	c.4-1 others(322): Show c.4-1977_4-1976insGGCGGTCAGCCCCCCTGCCCGGTCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGTG	ZNF791	ENSG00000173875.14	transcript	ENST00000343325.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF804B_chr7_88754700_89343528	88855316	T T	TCTCATTG others(302): Show TCTCATTGTGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	166	0.0060	309	c.108 others(328): Show c.108+95246_108+95247insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCTCATTGTGGTTTT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48443861	T T	TCCTCTTT others(303): Show TCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTA CAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTT TCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGG AAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCC TGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACC CTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACA GGAGGAAACAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0030 a0003c0004t0004g0030	1	178	0.0056	310	c.125 others(333): Show c.12566-11022_12566-11021insCCCTCTTTCCTTCCTGTTACAG GAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCC TTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAA CACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGT TACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTC TTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGA GGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	42/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC4_chr13_95014835_95306451	95087052	G G	GCAGGGTT others(303): Show GCAGGGTTCACTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp2 HG02080.hp2 others(12): Show HG00558.hp1 HG02071.hp2 HG02080.hp2 HG02155.hp1 HG02523.hp1 HG02970.hp1 HG03710.hp1 NA18522.hp2 NA18979.hp2 NA18985.hp2 NA19011.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0012 a0001c0023 a0002c0004 a0003c0008 a0004c0006 a0008c0032 a0009c0033	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0005 a0001c0009t0001 a0001c0012t0001 a0001c0023t0003 a0002c0004t0001 a0002c0004t0003 a0003c0008t0001 a0004c0006t0001 a0008c0032t0001 a0009c0033t0017	a0001c0001t0001g0206 a0001c0001t0005g0044 a0001c0002t0001g0181 others(12): Show a0001c0001t0001g0206 a0001c0001t0005g0044 a0001c0002t0001g0181 a0001c0002t0001g0188 a0001c0002t0001g0238 a0001c0003t0005g0019 a0001c0009t0001g0047 a0001c0012t0001g0081 a0001c0023t0003g0073 a0002c0004t0001g0147 a0002c0004t0003g0056 a0003c0008t0001g0099 a0004c0006t0001g0192 a0008c0032t0001g0004 a0009c0033t0017g0003	15	248	0.0605	310	c.253 others(329): Show c.2536-3763_2536-3762insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAGAAGTGAACCCTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	20/30			chr13	TogoVar
ACACA_chr17_37079992_37411836	37136053	T T	TAAAAATT others(303): Show TAAAAATTTTAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01358.hp2 HG02647.hp2 others(2): Show HG00733.hp1 HG01358.hp2 HG02647.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0031 a0001c0004t0033 a0001c0004t0005 a0001c0004t0031 a0001c0004t0033	a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 others(2): Show a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 a0001c0004t0031g0129 a0001c0004t0033g0298	5	299	0.0167	310	c.568 others(329): Show c.5680-5836_5680-5835insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTTAAAATTTTT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	45/55			chr17	TogoVar
ACOT11_chr1_54543228_54615329	54561726	A A	AGGGGGGC others(303): Show AGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAG CTGGCCGGGCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0189 a0002c0002t0007g0189	1	388	0.0026	310	c.33+ others(327): Show c.33+13402_33+13403insCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGG CAGCTGGCCGGGCGGGGGGGCTGACCCCCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169771186	A A	TTTATATT others(303): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATT TATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAA TATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	310	c.-16 others(321): Show c.-1666_-1665insTTTTTATATATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAAATTTTTATATATTTATGATATAT AAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATA TTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATATA AATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTATGA TATATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTT ATATATTTATGATATATAAATATAAA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1625		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(303): Show ACCATTTTAAACATTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0126 a0003c0009t0001g0126	1	228	0.0044	310	c.790 others(327): Show c.790-8337_790-8336insGCCGGGCGCGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(303): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATATGTATATCTAGAT ATACATATACATGTATCTGTATATGTATGTATCTAGATATACATATACAT GTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATAT GTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAG ATATACATATACATGTATCTGTATATGTATGTATCTAGATATACATATAC ATGTATCTGTA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18977.hp1 NA18948.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0167 a0001c0003t0001g0212 a0001c0001t0001g0167 a0001c0003t0001g0212	2	226	0.0089	310	c.132 others(329): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACATATACATGTATATGTATATCTAGATATACATATAC ATGTATATGTATATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATAC ATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTAT CTGTATATGTATGTATCTAGATATACATATACATGTATCTGTATATGTAT GTATCTAGATATACATATACATGTATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY2_chr5_7391138_7835081	7704000	C C	CAAAAAAA others(303): Show CAAAAAAAAAAAAAAGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0039 a0002c0004t0001g0039	1	140	0.0071	310	c.111 others(329): Show c.1110-2731_1110-2730insAGTTTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTT CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCT GCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)