JoGo: Joint Open Genome and Omics Platform

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
TRNP1_chr1_26988692_27005886	26989966	C C	CTTTTTTT others(306): Show CTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	288	0.0035	313	c.-38 others(324): Show c.-3821_-3820insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTCT	TRNP1	ENSG00000253368.4	transcript	ENST00000522111.3	protein_coding		3725		chr1	TogoVar
TSEN2_chr3_12479480_12538658	12494698	A A	ACCAATTT others(306): Show ACCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGACTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01928.hp2 HG01978.hp2 others(1): Show HG01243.hp2 HG01928.hp2 HG01978.hp2 HG02135.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0009 a0002c0004t0007 a0002c0004t0009	a0002c0004t0007g0037 a0002c0004t0007g0038 a0002c0004t0007g0039 others(1): Show a0002c0004t0007g0037 a0002c0004t0007g0038 a0002c0004t0007g0039 a0002c0004t0009g0040	4	284	0.0141	313	c.272 others(330): Show c.272-1808_272-1807insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTATTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCCGGGACTACA GGCGTGAGCCACCGCGCCCGGCCCCAATTTTTTTT	TSEN2	ENSG00000154743.19	transcript	ENST00000284995.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(306): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCACCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02145.hp2 HG01106.hp2 HG02109.hp1 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0163 a0001c0002t0002g0018 a0001c0002t0001g0163 a0001c0002t0002g0018	3	336	0.0089	313	c.514 others(330): Show c.514-3951_514-3950insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGGTGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTLL5_chr14_75656246_75960079	75709974	A A	AGCTTTCT others(306): Show AGCTTTCTCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03195.hp1 HG03209.hp2 HG02622.hp2 HG03195.hp1 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0005t0001 a0001c0001t0001 a0001c0002t0001 a0002c0005t0001	a0001c0001t0001g0090 a0001c0002t0001g0093 a0002c0005t0001g0091 a0001c0001t0001g0090 a0001c0002t0001g0093 a0002c0005t0001g0091	3	198	0.0152	313	c.740 others(330): Show c.740+2281_740+2282insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCT TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGCTTTCTCTCTTTT	TTLL5	ENSG00000119685.20	transcript	ENST00000298832.14	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr14	TogoVar
TWIST2_chr2_238843085_238915534	238870364	C C	CCACACCC others(306): Show CCACACCCCACACACACCACACACACCACACACACCACACACCCCCCACA CACCACACCCCACACACACCACACACCCCACACACACATCACATACCCCA CACACCACACACCCCACACACACCACACACCCCCCACACACCACACACCC CACACACACCACACCCCACACACACCACACACCCCACACACACCACACAC CCCACACACACCACACAAACCACACACCCTCCACACAAACCACACACCCT ACACACCCCACACACACCACACACACACATCACATACCACACACACATCA CATACCACACACAA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	338	0.0030	313	c.35 others(332): Show c.35+21631_*35+21632insCACACCCCACACACACCACACACACC ACACACACCACACACCCCCCACACACCACACCCCACACACACCACACACC CCACACACACATCACATACCCCACACACCACACACCCCACACACACCACA CACCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCA CACACCCCACACACACCACACACCCCACACACACCACACAAACCACACAC CCTCCACACAAACCACACACCCTACACACCCCACACACACCACACACACA CATCACATACCACACACACATCACATACCACACACAA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE2E2_chr3_23198327_23596794	23256656	T T	TAAGACTA others(306): Show TAAGACTAAGGTCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00597.hp2 others(26): Show HG00099.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00733.hp1 HG01255.hp2 HG01496.hp1 HG02027.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02293.hp1 NA18946.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18985.hp2 NA18993.hp2 NA19001.hp2 NA19004.hp2 NA19012.hp1 NA19054.hp1 NA19055.hp2 NA19068.hp2 NA19082.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014	a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 others(26): Show a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0191 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0014g0033 a0001c0001t0014g0036 a0001c0001t0014g0192	29	336	0.0863	313	c.227 others(332): Show c.227+39356_227+39357insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATAC AAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCG GGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAGACTAAGGTC	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UQCC1_chr20_35297578_35416973	35361225	T T	TAAAAAGT others(306): Show TAAAAAGTTTGAAAACCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAAAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02602.hp1 HG02698.hp2 others(10): Show HG01167.hp2 HG02602.hp1 HG02698.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03579.hp2 HG03688.hp2 HG03834.hp1 NA18522.hp2 NA18941.hp2 NA19005.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0192 others(10): Show a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0248 a0001c0001t0005g0156 a0001c0001t0005g0169 a0001c0001t0005g0185	13	256	0.0508	313	c.464 others(330): Show c.464+5331_464+5332insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTTTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGGTTTTCAAACTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	6/9			chr20	TogoVar
USP6NL_chr10_11455510_11616650	11478911	T T	TAAAAAGT others(306): Show TAAAAAGTGTAACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0198 a0001c0003t0007g0198	1	402	0.0025	313	c.107 others(332): Show c.1078+2858_1078+2859insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCAGTTACACTTTTT	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	14/14			chr10	TogoVar
VAV3_chr1_107566161_107970180	107599844	A A	ACTGAACT others(306): Show ACTGAACTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0150 a0001c0001t0024g0150	1	210	0.0048	313	c.222 others(332): Show c.2220+2552_2220+2553insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAGAATAGTTCAG	VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	24/26			chr1	TogoVar
WBP11_chr12_14779582_14808478	14787575	T T	TGGTTGCC others(306): Show TGGTTGCCAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	386	0.0026	313	c.149 others(328): Show c.1493-78_1493-77insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAATTGGCAACC	WBP11	ENSG00000084463.8	transcript	ENST00000261167.7	protein_coding	11/11			chr12	TogoVar
WDR81_chr17_1719704_1743585	1740324	A A	AGCCGGAC others(306): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTG AGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGGACACTGAGGGT GGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAA GGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGC CTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGGAGCCTGAT GCAGGGAGTGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0002 a0003c0005t0003g0002	1	431	0.0023	313	c.26 others(324): Show c.2639_*2640insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAG TGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAGGGAGTGAGGCG CAGGACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTG AGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGT GGGAAGGAGCCTGATGCAGGGAGTGAGGC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1740		chr17	TogoVar
WDR89_chr14_63592039_63646871	63620897	C C	CAAAAAAA others(306): Show CAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	284	0.0035	313	c.-32 others(330): Show c.-32+4030_-32+4031insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACGACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTT	WDR89	ENSG00000140006.12	transcript	ENST00000620954.2	protein_coding	2/2			chr14	TogoVar
WWOX_chr16_78094654_79217667	79156823	T T	TGAAAGAA others(306): Show TGAAAGAAGACCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0045 a0009c0010t0001g0045	1	142	0.0070	313	c.105 others(334): Show c.1057-54770_1057-54769insTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAAAGAAGACCTTTT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
XXYLT1_chr3_195063284_195276159	195110337	A A	ATGTGTGT others(306): Show ATGTGTGTGGTGTATGTGTGCATGTGTGTGTGAGGTGTATGGGTGAGGTG CGTGTGTGGTGTATGTGTGCGTGTGTGTGGTGTATAAGTGTGTGTGGTGG TGTATGTGTGTGAGGTGTGTGTATGCGTGTGTGGGGGGGTGAGGTGTGTG TGGTGTATGTGTGTGGTGTATAAGTGTGTGTGGTGTGTGTGGTGTGTGCG TGTGTATGTAGTGTGTGGGGTGTATGTGTGCGTGTGTGGTATATAAGTGT GTGTGTGGTGTGGTGTATGTGTGTGTGGGTGAGGTGTGTCTGTACGTGGT GTATGTGTGTGGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02615.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0109 a0001c0001t0020g0177 a0001c0001t0020g0109 a0001c0001t0020g0177	2	198	0.0101	313	c.786 others(332): Show c.786-40227_786-40226insCACCACACACATACACCACGTACAGA CACACCTCACCCACACACACATACACCACACCACACACACACTTATATAC CACACACGCACACATACACCCCACACACTACATACACACGCACACACCAC ACACACCACACACACTTATACACCACACACATACACCACACACACCTCAC CCCCCCACACACGCATACACACACCTCACACACATACACCACCACACACA CTTATACACCACACACACGCACACATACACCACACACGCACCTCACCCAT ACACCTCACACACACATGCACACATACACCACACACA	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
XXYLT1_chr3_195063284_195276159	195110337	A A	ATGTGTGT others(306): Show ATGTGTGTGGTGTATGTGTGCATGTGTGTGTGAGGTGTATGGGTGAGGTG CGTGTGTGGTGTATGTGTGCGTGTGTGTGGTGTATAAGTGTGTGTGGTGG TGTATGTGTGTGAGGTGTGTGTATGCGTGTGTGTGGGGGTGAGGTGTGTG TGGTGTATGTGTGTGGTGTATAAGTGTGTGTGGTGTGTGTGGTGTGTGCG TGTGTATGTAGTGTGTGGGGTGTATGTGTGCGTGTGTGGTATATAAGTGT GTGTGTGGTGTGGTGTATGTGTGTGTGGGTGAGGTGTGTCTGTACGTGGT GTATGTGTGTGGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02922.hp1 HG02559.hp2 HG02572.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0008 a0001c0001t0009	a0001c0001t0008g0171 a0001c0001t0009g0093 a0001c0001t0009g0118 a0001c0001t0008g0171 a0001c0001t0009g0093 a0001c0001t0009g0118	3	198	0.0152	313	c.786 others(332): Show c.786-40227_786-40226insCACCACACACATACACCACGTACAGA CACACCTCACCCACACACACATACACCACACCACACACACACTTATATAC CACACACGCACACATACACCCCACACACTACATACACACGCACACACCAC ACACACCACACACACTTATACACCACACACATACACCACACACACCTCAC CCCCACACACACGCATACACACACCTCACACACATACACCACCACACACA CTTATACACCACACACACGCACACATACACCACACACGCACCTCACCCAT ACACCTCACACACACATGCACACATACACCACACACA	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3			chr3	TogoVar
ZC2HC1B_chr6_143859474_143943343	143861811	A A	ATGAGTTA others(306): Show ATGAGTTATGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG02809.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0109 a0001c0001t0001g0110	2	330	0.0061	313	c.-27 others(324): Show c.-2729_-2728insTGAGTTATGCTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCC	ZC2HC1B	ENSG00000118491.10	transcript	ENST00000237275.9	protein_coding		2662		chr6	TogoVar
ZC3H7B_chr22_41296525_41365147	41314924	T T	TAAAAATA others(306): Show TAAAAATACAGGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACAGTGAAACCCCTTCTCTACTAAAAATACAAAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAACTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19043.hp2 HG00140.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0224 a0001c0001t0005g0184 a0001c0001t0001g0224 a0001c0001t0005g0184	2	325	0.0062	313	c.-6- others(328): Show c.-6-5718_-6-5717insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCTTCTCTACTAAAAATACAAAA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAACTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCA TCTCAAAAAAAAAAAAAAAAAAAAATACAGGCA	ZC3H7B	ENSG00000100403.12	transcript	ENST00000352645.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr22	TogoVar
ZCCHC10_chr5_132991985_133031549	132998904	T T	TAAAAGCA others(306): Show TAAAAGCAATTTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	312	0.0032	313	c.312 others(326): Show c.312-55_312-54insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGCCGAAATTGCTTTT	ZCCHC10	ENSG00000155329.12	transcript	ENST00000509437.6	protein_coding	4/4			chr5	TogoVar
ZDHHC14_chr6_157376190_157683157	157677681	T T	TTGAATTT others(306): Show TTGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0078 a0001c0002t0041g0078	1	188	0.0053	313	c.45 others(324): Show c.4568_*4569insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTGAATTTTT	ZDHHC14	ENSG00000175048.17	transcript	ENST00000359775.10	protein_coding	9/9	4569	INFO_REALIGN_3_PRIME	chr6	TogoVar
ZFHX3_chr16_72777885_73053128	73041395	T T	TAAAAAAG others(306): Show TAAAAAAGGGTGTGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp1 HG03225.hp2 HG03486.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0023c0027 a0001c0001 a0023c0027	a0001c0001t0002 a0023c0027t0009 a0001c0001t0002 a0023c0027t0009	a0001c0001t0002g0083 a0023c0027t0009g0082 a0001c0001t0002g0083 a0023c0027t0009g0082	2	254	0.0079	313	c.-50 others(330): Show c.-50+6356_-50+6357insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCTGCACACCCTTTTTT	ZFHX3	ENSG00000140836.17	transcript	ENST00000268489.10	protein_coding	1/9			chr16	TogoVar
ZMYM5_chr13_19818482_19868649	19832900	T T	TAAAAAAA others(306): Show TAAAAAAATTGTTTTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCACCCCGGCTAAAATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02622.hp2 HG01433.hp1 HG02622.hp2	a0003 a0015 a0003 a0015	a0003c0003 a0015c0017 a0003c0003 a0015c0017	a0003c0003t0003 a0015c0017t0003 a0003c0003t0003 a0015c0017t0003	a0003c0003t0003g0263 a0015c0017t0003g0266 a0003c0003t0003g0263 a0015c0017t0003g0266	2	296	0.0068	313	c.125 others(332): Show c.1251+2576_1251+2577insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGC CGGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTCAAAACAATTTTTTT	ZMYM5	ENSG00000132950.19	transcript	ENST00000337963.9	protein_coding	7/7			chr13	TogoVar
ZNF236_chr18_76817557_76977901	76851082	G G	GAAGAGTT others(306): Show GAAGAGTTTGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0123 a0001c0003t0003g0123	1	346	0.0029	313	c.199 others(328): Show c.199-682_199-681insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAGAGTTTGAC	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF277_chr7_112201695_112348934	112238781	T T	TGATATTT others(306): Show TGATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01123.hp1 others(8): Show HG00099.hp2 HG00741.hp2 HG01123.hp1 HG02148.hp1 HG02559.hp2 HG03225.hp2 HG03688.hp2 HG04204.hp2 NA18966.hp1 NA18975.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0072 others(8): Show a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088	11	280	0.0393	313	c.91+ others(330): Show c.91+31984_91+31985insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGATATTTTTT	ZNF277	ENSG00000198839.10	transcript	ENST00000361822.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF492_chr19_22629324_22672671	22634027	G G	GCCATATA others(306): Show GCCATATAGTATATATATTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAG CCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03486.hp2 HG03516.hp2 HG02976.hp1 HG03486.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0065 a0004c0004t0006g0066 a0004c0004t0006g0074 a0004c0004t0006g0065 a0004c0004t0006g0066 a0004c0004t0006g0074	3	366	0.0082	313	c.-54 others(322): Show c.-541_-540insCCATATAGTATATATATTTTTTTTTTTTTTTTTTGA GACGGAGTCTGGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGACGTGAGCCACCGCGCCCGGC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding		296		chr19	TogoVar
ZNF492_chr19_22629324_22672671	22634027	G G	GCCATATA others(306): Show GCCATATAGTATATATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAG CCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01884.hp2 HG01891.hp1 others(11): Show HG01081.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02273.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG06807.hp1 NA20300.hp2	a0004 a0006 a0007 a0004 a0006 a0007	a0004c0004 a0006c0006 a0007c0007 a0004c0004 a0006c0006 a0007c0007	a0004c0004t0006 a0004c0004t0007 a0006c0006t0007 others(3): Show a0004c0004t0006 a0004c0004t0007 a0006c0006t0007 a0007c0007t0006 a0007c0007t0023 a0007c0007t0024	a0004c0004t0006g0049 a0004c0004t0006g0077 a0004c0004t0006g0078 others(11): Show a0004c0004t0006g0049 a0004c0004t0006g0077 a0004c0004t0006g0078 a0004c0004t0006g0079 a0004c0004t0006g0080 a0004c0004t0007g0075 a0006c0006t0007g0047 a0006c0006t0007g0048 a0006c0006t0007g0055 a0006c0006t0007g0056 a0006c0006t0007g0057 a0007c0007t0006g0053 a0007c0007t0023g0052 a0007c0007t0024g0051	14	366	0.0383	313	c.-54 others(322): Show c.-541_-540insCCATATAGTATATATTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTGGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGACGTGAGCCACCGCGCCCGGC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding		296		chr19	TogoVar
ZNF492_chr19_22629324_22672671	22634027	G G	GCCATATA others(306): Show GCCATATAGTATATATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTGGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02572.hp2 others(6): Show HG02257.hp1 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02922.hp1 HG03471.hp2 HG03486.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0012 a0004c0004t0021 a0004c0004t0008 a0004c0004t0012 a0004c0004t0021	a0004c0004t0008g0060 a0004c0004t0008g0061 a0004c0004t0008g0063 others(6): Show a0004c0004t0008g0060 a0004c0004t0008g0061 a0004c0004t0008g0063 a0004c0004t0008g0064 a0004c0004t0008g0070 a0004c0004t0008g0071 a0004c0004t0008g0072 a0004c0004t0012g0081 a0004c0004t0021g0069	9	366	0.0246	313	c.-54 others(322): Show c.-541_-540insCCATATAGTATATATTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTGGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding		296		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23734250	A A	ACTTATTG others(306): Show ACTTATTGACTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00597.hp2 others(87): Show HG00408.hp1 HG00423.hp1 HG00597.hp2 HG00642.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01433.hp2 HG01891.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19006.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19091.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0031 a0002c0002t0001 others(6): Show a0001c0001t0002 a0001c0001t0031 a0002c0002t0001 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0014 a0002c0002t0017 a0002c0002t0034	a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0039 others(50): Show a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0039 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0195 a0001c0001t0031g0136 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0003g0222 a0002c0002t0003g0227 a0002c0002t0003g0229 a0002c0002t0009g0052 a0002c0002t0009g0053 a0002c0002t0009g0218 a0002c0002t0009g0226 a0002c0002t0009g0238 a0002c0002t0012g0216 a0002c0002t0012g0217 a0002c0002t0012g0219 a0002c0002t0012g0234 a0002c0002t0014g0055 a0002c0002t0014g0237 a0002c0002t0017g0050 a0002c0002t0034g0221	90	394	0.2284	313	c.93 others(324): Show c.9361_*9362insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAACAAGTCAATAAG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		4944		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23734250	A A	ACTTATTG others(306): Show ACTTATTGACTTGTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02630.hp2 others(1): Show HG02258.hp2 HG02615.hp2 HG02630.hp2 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0252 a0001c0006t0001g0253 a0001c0006t0001g0254 others(1): Show a0001c0006t0001g0252 a0001c0006t0001g0253 a0001c0006t0001g0254 a0001c0006t0001g0255	4	394	0.0102	313	c.93 others(324): Show c.9361_*9362insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAACAAGTCAATAAG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		4944		chr19	TogoVar
ZNF793_chr19_37501939_37548333	37540541	T T	TTAAAGCG others(306): Show TTAAAGCGGTTTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCAGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTTCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0070 a0001c0001t0076g0070	1	390	0.0026	313	c.26 others(324): Show c.2678_*2679insTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCAGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTTCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAAAGCGGTTTTTCTT	ZNF793	ENSG00000188227.14	transcript	ENST00000627814.3	protein_coding	8/8	2679	INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNG1B_chr2_113432691_113501204	113464501	G G	GAAAAGAA others(306): Show GAAAAGAATTTAACAGGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0181	1	276	0.0036	313	c.663 others(328): Show c.663-609_663-608insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAGAATTTAACAGGTAC	ZNG1B	ENSG00000136682.16	transcript	ENST00000259199.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975400	T T	TATAAATA others(307): Show TATAAATATATATATTTATATATTTATAGATAAATATATAAATATATAAA TATTTATAGATAAATATATAAATATATAAATATTTATATATTTATAGATA AATATATAAATATTTATATATTTATCTATAAATATATAAATATTTATATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	306	0.0033	314	c.130 others(333): Show c.1308+1176_1308+1177insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATATATTTATCTATAAATATATAAATAT TTATATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAAT ATATAAATATTTATATATTTATATATTTATCTATAAATATTTATATATTT ATATATTTATCTATAAATATATAAATATATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1072412	G G	GGGGACGA others(307): Show GGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCT GCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGA GAGAAGGGGACGAGGGACCTGCCGCCCGTAGTGAGAGAAGGGGACGAGGG ACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGT GTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGGA CGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGC CCGTGTGTGAGAGAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	337	0.0030	314	c.894 others(329): Show c.894+201_894+202insTTCTCTCACACACGGGCGGCAGGTCCCTCG TCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCCTTCTCTCAC ACACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGT CCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCCTTCT CTCACTACGGGCGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGC AGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCCC TTCTCTCACACACGGGCGGCAGGTCCCTCGTCCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118106	C C	CCCAGCGT others(307): Show CCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTG AGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCAGCGTT AACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCC CCAGCGTTATCCCTGAGCCTAAGTTCTTCCCAGCGTTATCCCTGAGCCTG AGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCC TGAGCCTGAGTTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01099.hp1 others(15): Show HG00323.hp2 HG00673.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01978.hp2 HG02015.hp1 HG02280.hp1 HG02735.hp2 HG02738.hp2 HG03654.hp2 NA18906.hp2 NA18962.hp1 NA18979.hp1 NA18984.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0001t0022 a0001c0001t0027 a0001c0001t0034 a0001c0001t0058 a0001c0001t0089 a0001c0002t0002	a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0148 others(15): Show a0001c0001t0001g0074 a0001c0001t0001g0101 a0001c0001t0001g0148 a0001c0001t0002g0190 a0001c0001t0003g0073 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0005g0254 a0001c0001t0005g0271 a0001c0001t0006g0233 a0001c0001t0007g0325 a0001c0001t0019g0057 a0001c0001t0022g0047 a0001c0001t0027g0038 a0001c0001t0034g0003 a0001c0001t0058g0076 a0001c0001t0089g0331 a0001c0002t0002g0100	18	337	0.0534	314	c.246 others(331): Show c.246+7076_246+7077insAGGAACTCAGGCTCAGGGATAACGCTGG GAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGAT AACGCTGGGAAGAACTTAGGCTCAGGGATAACGCTGGGGAGAACTCAGGC TCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGAGAA CTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCT GGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGAT AACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288943	C C	CCGTGTCC others(307): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	295	0.0034	314	c.46 others(325): Show c.4620_*4621insACGGGGCAGGGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGG AGCAGAGACACGGGACGGGGCAGGGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3447		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289129	T T	TCCCCCGT others(307): Show TCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCTGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	295	0.0034	314	c.44 others(325): Show c.4434_*4435insGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGGGACAGAGCAGG GACACGGGGGACGGAGCAGGGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3261		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289357	C C	CCCCGTGT others(307): Show CCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	295	0.0034	314	c.42 others(325): Show c.4206_*4207insACGGGGCAGGGACACGGGGGACGGAGCAGAGACA CGGGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGG AGCAGAGACACGGGACGGGGCAGGGACACGGGGGACGGAGCAGAGACACG GGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGG CAGAGACACGGGACGGGGCAGGGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3033		chr1	TogoVar
ACER1_chr19_6301142_6338612	6329203	A A	ACCCACTC others(307): Show ACCCACTCCACCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAG CTGGGACTACAGGCGCGCGCCACCACGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0382 a0001c0004t0001g0382	1	396	0.0025	314	c.93+ others(329): Show c.93+4255_93+4256insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAT TAGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAGGGTGGAGTGGG	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACOX1_chr17_75936507_75984166	75965585	T T	TGAAATGT others(307): Show TGAAATGTAACAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01934.hp1 HG04204.hp2 others(2): Show HG00280.hp1 HG01934.hp1 HG04204.hp2 NA19057.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0003c0005t0054	a0001c0001t0002g0314 a0001c0001t0005g0310 a0001c0001t0005g0312 others(2): Show a0001c0001t0002g0314 a0001c0001t0005g0310 a0001c0001t0005g0312 a0002c0002t0001g0311 a0003c0005t0054g0315	5	344	0.0145	314	c.270 others(331): Show c.270-5211_270-5210insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCTGTTACATTTC	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACTG2_chr2_73888008_73924865	73898352	T T	TGCACCTT others(307): Show TGCACCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01433.hp1 HG02735.hp2 others(1): Show HG01081.hp1 HG01433.hp1 HG02735.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0130 others(1): Show a0001c0001t0003g0096 a0001c0001t0003g0101 a0001c0001t0003g0130 a0001c0001t0003g0224	4	416	0.0096	314	c.-36 others(331): Show c.-36-2913_-36-2912insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGCACCTTTTCT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACY3_chr11_67637555_67655730	67655023	T T	TTTTTTTT others(307): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCAGGTTCTTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(57): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02486.hp2 HG02738.hp1 HG02738.hp2 HG03098.hp1 HG03098.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18940.hp2 NA18941.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19055.hp2 NA19057.hp2 NA19066.hp2 NA19070.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 a0002c0002t0002 a0002c0003t0002 a0003c0004t0005	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0008g0057 a0001c0007t0001g0073 a0002c0002t0002g0007 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0003t0002g0005 a0002c0003t0002g0023 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0081 a0002c0003t0002g0088 a0002c0003t0002g0125 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0134 a0003c0004t0005g0009 a0003c0004t0005g0110 a0003c0004t0005g0130	60	396	0.1515	314	c.-45 others(325): Show c.-4536_-4535insGTAAGAACCTGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAA ATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding		4294		chr11	TogoVar
ADAM9_chr8_38991973_39110261	39006541	T T	TAAAAAGG others(307): Show TAAAAAGGTATCATAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	332	0.0030	314	c.98- others(329): Show c.98-1328_98-1327insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAGGTATCATAGTC	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39006541	T T	TAAAAAGG others(307): Show TAAAAAGGTATCATAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03516.hp2 NA18988.hp1 others(1): Show HG02630.hp2 HG03516.hp2 NA18988.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0220 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0220 a0001c0001t0001g0234	4	332	0.0121	314	c.98- others(329): Show c.98-1328_98-1327insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCGTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAGGTATCATAGTC	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS16_chr5_5135330_5325304	5279668	T T	TTATCTTG others(307): Show TTATCTTGGAAGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCACGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02622.hp1 HG01167.hp2 HG02622.hp1	a0001 a0004 a0001 a0004	a0001c0023 a0004c0020 a0001c0023 a0004c0020	a0001c0023t0002 a0004c0020t0022 a0001c0023t0002 a0004c0020t0022	a0001c0023t0002g0225 a0004c0020t0022g0100 a0001c0023t0002g0225 a0004c0020t0022g0100	2	332	0.0060	314	c.278 others(335): Show c.2789+16903_2789+16904insTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCACGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGCCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATCTTGGAAGTTTTTTT	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5305463	A A	ACACATCC others(307): Show ACACATCCCACACCACACACACACACCCCACACCACACACACACATCCCA CACCACACACACACACATCCCACACCACACACACATCCCACACCACACAC ACACACACACACTTCCCACACCACACACACACACTTCCCACACCAGACAC ACACACATCCCACACCACACACACACACCACACACACCACACCACAGACA CACACATCCCACACCACACACCCCCCACACACACACATCCCACACCACAC ACAGACATCCCACACCACACACACACATCCCACACCACACACACACACAT CCCGCACCACACACT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp1 HG03130.hp2 others(1): Show HG01243.hp1 HG02976.hp1 HG03130.hp2 HG03486.hp1	a0001 a0002 a0027 a0001 a0002 a0027	a0001c0001 a0001c0055 a0002c0076 others(1): Show a0001c0001 a0001c0055 a0002c0076 a0027c0079	a0001c0001t0001 a0001c0055t0020 a0002c0076t0020 others(1): Show a0001c0001t0001 a0001c0055t0020 a0002c0076t0020 a0027c0079t0029	a0001c0001t0001g0057 a0001c0055t0020g0056 a0002c0076t0020g0277 others(1): Show a0001c0001t0001g0057 a0001c0055t0020g0056 a0002c0076t0020g0277 a0027c0079t0029g0204	4	332	0.0121	314	c.318 others(333): Show c.3187-1037_3187-1036insTCCCACACCACACACACACACCCCAC ACCACACACACACATCCCACACCACACACACACACATCCCACACCACACA CACATCCCACACCACACACACACACACACACTTCCCACACCACACACACA CACTTCCCACACCAGACACACACACATCCCACACCACACACACACACCAC ACACACCACACCACAGACACACACATCCCACACCACACACCCCCCACACA CACACATCCCACACCACACACAGACATCCCACACCACACACACACATCCC ACACCACACACACACACATCCCGCACCACACACTCACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5305463	A A	ACACATCC others(307): Show ACACATCCCACACCACACACACACACCCCACACCACACACACACATCCCA CACCACACACACACACATCCCACACCACACACACATCCCACACCACACAC ACACACACACTTCCCACACCACACACACACACACTTCCCACACCAGACAC ACACACATCCCACACCACACACACACACCACACACACCACACCACAGACA CACACATCCCACACCACACACCCCCCACACACACACATCCCACACCACAC ACAGACATCCCACACCACACACACACATCCCACACCACACACACACACAT CCCGCACCACACACT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01952.hp1 HG02055.hp1 others(11): Show HG01884.hp2 HG01952.hp1 HG02055.hp1 HG02109.hp2 HG02280.hp2 HG02572.hp2 HG02717.hp2 HG02738.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03579.hp2 NA18906.hp2 NA19043.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0009 a0025 a0029 a0031	a0001c0001 a0001c0032 a0001c0052 others(7): Show a0001c0001 a0001c0032 a0001c0052 a0003c0006 a0004c0004 a0004c0009 a0009c0039 a0025c0066 a0029c0075 a0031c0040	a0001c0001t0002 a0001c0001t0014 a0001c0001t0042 others(11): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0042 a0001c0032t0001 a0001c0032t0038 a0001c0052t0006 a0003c0006t0016 a0004c0004t0001 a0004c0009t0001 a0004c0009t0015 a0009c0039t0015 a0025c0066t0002 a0029c0075t0001 a0031c0040t0014	a0001c0001t0002g0060 a0001c0001t0014g0059 a0001c0001t0042g0088 others(11): Show a0001c0001t0002g0060 a0001c0001t0014g0059 a0001c0001t0042g0088 a0001c0032t0001g0065 a0001c0032t0038g0235 a0001c0052t0006g0236 a0003c0006t0016g0172 a0004c0004t0001g0127 a0004c0009t0001g0139 a0004c0009t0015g0140 a0009c0039t0015g0099 a0025c0066t0002g0264 a0029c0075t0001g0301 a0031c0040t0014g0191	14	332	0.0422	314	c.318 others(333): Show c.3187-1037_3187-1036insTCCCACACCACACACACACACCCCAC ACCACACACACACATCCCACACCACACACACACACATCCCACACCACACA CACATCCCACACCACACACACACACACACTTCCCACACCACACACACACA CACTTCCCACACCAGACACACACACATCCCACACCACACACACACACCAC ACACACCACACCACAGACACACACATCCCACACCACACACCCCCCACACA CACACATCCCACACCACACACAGACATCCCACACCACACACACACATCCC ACACCACACACACACACATCCCGCACCACACACTCACA	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY5_chr3_123277296_123454090	123407765	C C	CAAAAAAA others(307): Show CAAAAAAAAAAAAGTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp2 HG02886.hp2 others(3): Show HG01167.hp1 HG02451.hp2 HG02886.hp2 HG02970.hp1 HG03195.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0022 a0001c0001 a0001c0011 a0001c0022	a0001c0001t0001 a0001c0001t0011 a0001c0011t0005 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0011t0005 a0001c0022t0015	a0001c0001t0001g0098 a0001c0001t0001g0181 a0001c0001t0011g0187 others(3): Show a0001c0001t0001g0098 a0001c0001t0001g0181 a0001c0001t0011g0187 a0001c0011t0005g0179 a0001c0011t0005g0180 a0001c0022t0015g0200	6	260	0.0231	314	c.113 others(335): Show c.1134+39646_1134+39647insTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCAACTTTTTTTTTTTT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
ADCY9_chr16_3957653_4121442	4097552	T T	TTTTTTTT others(307): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0168 a0001c0002t0004g0168	1	320	0.0031	314	c.169 others(335): Show c.1693+16197_1693+16198insCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	2/10			chr16	TogoVar
ADGRV1_chr5_90553797_91169437	90556036	T T	TGAAAAAT others(307): Show TGAAAAATGGAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCA GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0007 a0023c0024t0007	a0023c0024t0007g0154 a0023c0024t0007g0154	1	158	0.0063	314	c.-28 others(325): Show c.-2860_-2859insGAAAAATGGAGGCCGGGCGCGGTGGCTCTCGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding		2760		chr5	TogoVar
AFF2_chrX_148495617_149005663	148581072	C C	CACACATA others(307): Show CACACATATATACACATATGTGTATATATGTATATATACACACATATATA CACATATGTGTATATATGTATATATACACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACATATATACACATATG TGTATATGTATATGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0037 a0001c0001t0037g0037	1	169	0.0059	314	c.48- others(331): Show c.48-70914_48-70913insCATATGTGTATATATGTATATATACACA CATATATACACATATGTGTATATATGTATATATACACACATATATACACA TATGTGTATATGTATATGTACACATATATACACATATGTGTATATGTATA TGTACACATATATACACATATGTGTATATGTATATGTACACATATATACA CATATGTGTATATGTATATGTACACATATATACACATATGTGTATATGTA TATGTACACATATATACACATATGTGTATATGTATATGTACACATATATA CACATATGTGTATATGTATATGTACACATATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGAP6_chr10_49983406_50015499	49989627	T T	TAAAATCA others(307): Show TAAAATCAGAATGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0004 a0013c0032t0004	a0013c0032t0004g0215 a0013c0032t0004g0215	1	406	0.0025	314	c.292 others(329): Show c.292+267_292+268insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAATCAGAATGGAGG	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)