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
TUBB6_chr18_12303241_12331616	12312311	T T	TAAAAAAT others(300): Show TAAAAAATATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02717.hp1 HG03540.hp1 others(1): Show HG01167.hp1 HG02717.hp1 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0042 a0001c0001t0002g0141 a0001c0001t0002g0142	4	402	0.0100	307	c.277 others(324): Show c.277+1268_277+1269insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAATATA	TUBB6	ENSG00000176014.13	transcript	ENST00000317702.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
TWIST2_chr2_238843085_238915534	238870469	A A	ACACACAC others(300): Show ACACACACCACACCCCACACACACCACACACACCACACACACCACACACA CCCACCCCCCACACACCACACCCCACACACACCACACACCCCACACACAC ATCACATACCCCACACACCACACACCCCACACACACCACACACCCCCCAC ACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCACACACACCACACAAACCACACACCCTACACACCC CACACACACCACACACACACATCACATACCACACACACATCACATACCAC ACACAAAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	338	0.0030	307	c.35 others(326): Show c.35+21741_*35+21742insACCACACCCCACACACACCACACACA CCACACACACCACACACACCCACCCCCCACACACCACACCCCACACACAC CACACACCCCACACACACATCACATACCCCACACACCACACACCCCACAC ACACCACACACCCCCCACACACCACACACCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCACACACACCACACAAAC CACACACCCTACACACCCCACACACACCACACACACACATCACATACCAC ACACACATCACATACCACACACAAACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870742	C C	CCCCACAC others(300): Show CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACC CCACACACACCACACCCCATACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCACACACACCACACCCCATACACACCACACCCCATACACACCACACCCC ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	338	0.0030	307	c.35 others(326): Show c.35+22009_*35+22010insCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCATACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(300): Show CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTG TGGGACGGGGGTTGGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTTGGA GGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0022 a0002c0011t0004g0022	1	344	0.0029	307	c.218 others(324): Show c.2182+158_2182+159insGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGATGGGGCTCGAGGCTGTGGGACGGGGGTTGGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAG GCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679372	T T	TACATGTT others(300): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0221 a0001c0001t0027g0221	1	250	0.0040	307	c.82+ others(322): Show c.82+5920_82+5921insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATAT TTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATAT ATATTTATATATTTAATTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(300): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATTTATATATTATATTTATGTAATATATAATATATATT TATATTATATTTATGTAATATATAATATATATTTATATATTATATTTATG TAATATATAATATATATTTATATATTATATTTATGTAATATATAATATAT ATTTATATATTATATTTATGTAATATATAATATATATTTATATATTATAT TTATGTAATATATAATATATATTTATATATTATATTTATGTAATATATAA TATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0177 a0001c0027t0001g0177	1	204	0.0049	307	c.213 others(326): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATATAA ATATATATTATATATTACATAAATATAATATAAATATATATTATATATTA CATAAATATAATATATAAATATATATTATATATTACATAAATATAATATA TATATTATATATTACATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(300): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATATACTATATATAGTATATATGTAATA TATACTATATATAGTATATATGTAATATATATATACTATATATAGTATAT ATGTAATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATATACTATATATATAGTATATATGTAATATAT ATATACTA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0083 a0001c0004t0002g0083	1	188	0.0053	307	c.458 others(326): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATATACTATATATAGTATATATGTAATATATAC TATATATAGTATATATGTAATATATATATACTATATATAGTATATATGTA ATATATACTATATATAGTATATATGTAATATATATACTATATATAGTATA TATGTAATATATATATACTATATATATAGTATATATGTAATATATATATA CTATATATATAGTATATATGTAATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(300): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATCAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	328	0.0031	307	c.802 others(324): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATCAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAATTAAAATTAAAT	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(300): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	328	0.0031	307	c.802 others(324): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAATTAAAATTAAAT	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(300): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01099.hp1 others(6): Show HG00140.hp1 HG00323.hp2 HG01099.hp1 HG01256.hp1 HG01952.hp2 HG02735.hp1 HG02896.hp1 NA18954.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0083 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0001g0156 a0001c0001t0001g0245 a0001c0001t0001g0325 a0001c0001t0002g0284	9	328	0.0274	307	c.802 others(324): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK1_chr14_96792382_96886609	96818064	T T	TGGATCCT others(300): Show TGGATCCTTCTACCTACTATCTCAAAAGTCAGAAACGGAAATACAGTTAA GGCTTCAGGGAATGCTTCCCTTGTAGGGGAAAGTGATAGCAGTGAGGTGT CTTGGGCTTGTGTTTGCAAATGTACCACACTGTGCATTCTCAGTTGAAAA CTAACTCTGCAGTTAGTGTTTCTCTTTTAGAACTTTTAGAAGTTTTTTAA GGAATAAAAGTTGAGAAAGTACATTTGATACTATATTTTAAGCATTTTAC TCACTATACCAAAACATTTTATAACCTAACGTTGATCACTTTTCTAATAC AAGTCAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	278	0.0036	307	c.-5- others(324): Show c.-5-15100_-5-15099insCAAAGGATCCTTCTACCTACTATCTCAA AAGTCAGAAACGGAAATACAGTTAAGGCTTCAGGGAATGCTTCCCTTGTA GGGGAAAGTGATAGCAGTGAGGTGTCTTGGGCTTGTGTTTGCAAATGTAC CACACTGTGCATTCTCAGTTGAAAACTAACTCTGCAGTTAGTGTTTCTCT TTTAGAACTTTTAGAAGTTTTTTAAGGAATAAAAGTTGAGAAAGTACATT TGATACTATATTTTAAGCATTTTACTCACTATACCAAAACATTTTATAAC CTAACGTTGATCACTTTTCTAATACAAGT	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
VRK1_chr14_96792382_96886609	96818169	G G	GCTTGTGT others(300): Show GCTTGTGTTTGCAAATGTACCACACTGTGCATTCTCAGTTGAAAACTAAC TCTGCAGTTAGTGTTTCTCTTTTAGAACTTTTAGAAGTTTTTTAAGGAAT AAAAGTTGAGAAAGTACATTTGATACTATATTTTAAGCATTTTACTCACT ATACCAAAACATTTTATAACCTAACGTTGATCACTTTTCTAATACAAGTC AAAGGATCCTTCTACCTACTATCTCAAAAGTCAGAAACGGAAATACAGTT AAGGCTTCAGGGAATGCTTCCCTTGTAGGGGAAAGTGATAGCAGTGAGGT GTCTTGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG02622.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0083 a0001c0002t0001g0085	2	278	0.0072	307	c.-5- others(324): Show c.-5-15100_-5-15099insCAAAGGATCCTTCTACCTACTATCTCAA AAGTCAGAAACGGAAATACAGTTAAGGCTTCAGGGAATGCTTCCCTTGTA GGGGAAAGTGATAGCAGTGAGGTGTCTTGGACTTGTGTTTGCAAATGTAC CACACTGTGCATTCTCAGTTGAAAACTAACTCTGCAGTTAGTGTTTCTCT TTTAGAACTTTTAGAAGTTTTTTAAGGAATAAAAGTTGAGAAAGTACATT TGATACTATATTTTAAGCATTTTACTCACTATACCAAAACATTTTATAAC CTAACGTTGATCACTTTTCTAATACAAGT	VRK1	ENSG00000100749.9	transcript	ENST00000216639.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(300): Show ACAGGACTCATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18979.hp2 NA18998.hp1 HG01257.hp1 NA18979.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0250 a0001c0001t0003g0255 a0001c0001t0009g0359 a0001c0001t0003g0250 a0001c0001t0003g0255 a0001c0001t0009g0359	3	382	0.0079	307	c.143 others(322): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR45B_chr17_82609562_82653444	82631586	A A	ACAGGACT others(300): Show ACAGGACTCATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCACTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTTCCCAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0270	1	382	0.0026	307	c.143 others(322): Show c.143-565_143-564insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTGGGAAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGTGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAATGAGTCCTG	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding	2/9			chr17	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(300): Show ATATATAATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATATAATATATATATATAATATATATATATATAATATATATA TATAATATATATATATATAATATATATATTATATATATATTATATATATA TAATATATATATTATATATATAATATATATATAATATATATATATTATAT ATATATAATATATATATTATATATATATTATATATATATATATTATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	330	0.0030	307	c.38 others(318): Show c.3884_*3885insAATATATATATTATATATATATTATATATATATT ATATATATATTATATATATATTATATATATAATATATATATATATAATAT ATATATAATATATATATTATATATATATAATATATATATATTATATATAT ATTATATATATAATATATATATTATATATATATAATATATATATAATATA TATATTATATATATATATATTATATATATATATTATATATATATATATTA TATATATATATTATATATATATATATTATATATATATATTATATATATAT ATATTATATATATATATTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR89_chr14_63592039_63646871	63620897	C C	CAAAAAAA others(300): Show CAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	284	0.0035	307	c.-32 others(324): Show c.-32+4030_-32+4031insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACGACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTTTTTTTTTTTTTT	WDR89	ENSG00000140006.12	transcript	ENST00000620954.2	protein_coding	2/2			chr14	TogoVar
WNK1_chr12_747579_916452	878786	T T	TTTTTTTT others(300): Show TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG01069.hp2 others(32): Show HG00408.hp2 HG00423.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01515.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02300.hp2 HG02735.hp2 HG02809.hp2 HG03490.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18965.hp2 NA19054.hp1 NA19058.hp2 NA19068.hp1 NA19077.hp2 NA19091.hp2 NA20752.hp1	a0004 a0005 a0023 a0004 a0005 a0023	a0004c0004 a0004c0020 a0005c0006 others(2): Show a0004c0004 a0004c0020 a0005c0006 a0005c0027 a0023c0019	a0004c0004t0003 a0004c0004t0022 a0004c0020t0003 others(4): Show a0004c0004t0003 a0004c0004t0022 a0004c0020t0003 a0005c0006t0003 a0005c0006t0009 a0005c0027t0003 a0023c0019t0003	a0004c0004t0003g0073 a0004c0004t0003g0074 a0004c0004t0003g0076 others(32): Show a0004c0004t0003g0073 a0004c0004t0003g0074 a0004c0004t0003g0076 a0004c0004t0003g0078 a0004c0004t0003g0079 a0004c0004t0003g0080 a0004c0004t0003g0081 a0004c0004t0003g0082 a0004c0004t0003g0083 a0004c0004t0003g0086 a0004c0004t0003g0087 a0004c0004t0003g0088 a0004c0004t0003g0089 a0004c0004t0003g0092 a0004c0004t0003g0094 a0004c0004t0003g0095 a0004c0004t0003g0096 a0004c0004t0022g0085 a0004c0020t0003g0084 a0005c0006t0003g0042 a0005c0006t0003g0100 a0005c0006t0003g0101 a0005c0006t0003g0102 a0005c0006t0003g0116 a0005c0006t0003g0119 a0005c0006t0003g0132 a0005c0006t0003g0138 a0005c0006t0003g0139 a0005c0006t0009g0021 a0005c0006t0009g0047 a0005c0006t0009g0048 a0005c0006t0009g0124 a0005c0006t0009g0279 a0005c0027t0003g0075 a0023c0019t0003g0093	35	284	0.1232	307	c.237 others(324): Show c.2373+433_2373+434insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTTTTTTTT	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
WWOX_chr16_78094654_79217667	78238901	T T	TGGCCCAA others(300): Show TGGCCCAAAATACCTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0001 a0004c0023t0001	a0004c0023t0001g0001 a0004c0023t0001g0001	1	142	0.0070	307	c.516 others(326): Show c.516+74630_516+74631insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCAAAATACCTTTCT	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFP1_chr16_75143524_75177234	75165105	T T	TCCATAAA others(300): Show TCCATAAATCGAGTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0047 a0001c0006t0028g0047	1	364	0.0028	307	c.16- others(322): Show c.16-1649_16-1648insTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCCATAAATCGAGTTTT	ZFP1	ENSG00000184517.12	transcript	ENST00000570010.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370986	T T	TCACATAT others(300): Show TCACATATGATATATATCATATATATCACATGTGATATATATCATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCATATGTGATATATATCATATATATC ATATGTGATATATATCATATATCATATATCATATATATCATATATCATAT ATATCATATGTGATATATATGATATATATGATATATATCATATATGATAT ATATGATATATATCATATATGATATATATGATATATCACATATATATGAT ATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	350	0.0029	307	c.-34 others(318): Show c.-3486_-3485insCACATATGATATATATCATATATATCACATGTGA TATATATCATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATATATCATATGTGATA TATATCATATATATCATATGTGATATATATCATATATCATATATCATATA TATCATATATCATATATATCATATGTGATATATATGATATATATGATATA TATCATATATGATATATATGATATATATCATATATGATATATATGATATA TCACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3382		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370986	T T	TCACATAT others(300): Show TCACATATGATATATATCATATATATCACATGTGATATATATCATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ATATGTGATATATAGCATATATATCATATGTGATATATAGCATATATATC ATATATCATATATATCATATATATCATATATCATATATATCATATATCAT ATATCATATATATCATATATCATATATATCATATGTGATATATATGATAT ATATGATATATATCATATATGATATATATGATATATCACATATATATGAT ATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 NA18940.hp1 NA18942.hp2 others(3): Show HG02698.hp2 NA18940.hp1 NA18942.hp2 NA18973.hp2 NA19003.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0106 a0001c0001t0003g0002 a0001c0001t0003g0106	6	350	0.0171	307	c.-34 others(318): Show c.-3486_-3485insCACATATGATATATATCATATATATCACATGTGA TATATATCATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCATATGTGATATATAGCATATATATCATATGTGATA TATAGCATATATATCATATATCATATATATCATATATATCATATATCATA TATATCATATATCATATATCATATATATCATATATCATATATATCATATG TGATATATATGATATATATGATATATATCATATATGATATATATGATATA TCACATATATATGATATATATCA	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3382		chr10	TogoVar
ZNF737_chr19_20532992_20570781	20563166	A A	AAGTTTCC others(300): Show AAGTTTCCTTTCATCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGCAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02257.hp2 others(4): Show HG01884.hp1 HG02145.hp2 HG02257.hp2 HG02647.hp1 HG02970.hp1 HG03516.hp1 NA18522.hp2	a0005 a0007 a0005 a0007	a0005c0007 a0005c0013 a0007c0010 a0005c0007 a0005c0013 a0007c0010	a0005c0007t0011 a0005c0013t0011 a0007c0010t0014 a0005c0007t0011 a0005c0013t0011 a0007c0010t0014	a0005c0007t0011g0027 a0005c0013t0011g0200 a0005c0013t0011g0201 others(3): Show a0005c0007t0011g0027 a0005c0013t0011g0200 a0005c0013t0011g0201 a0007c0010t0014g0199 a0007c0010t0014g0202 a0007c0010t0014g0203	7	336	0.0208	307	c.3+2 others(320): Show c.3+2471_3+2472insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTG AGGCAAGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAGATGAAAGGAAACT	ZNF737	ENSG00000237440.9	transcript	ENST00000427401.9	protein_coding	1/3			chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049575	C C	CCACTCCC others(301): Show CCACTCCCTCCCCGAGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCCA CCACTCCCTCCCTGTGACCCCCCCACCACTGCCCTCCCCGTGAGCCCCCC CACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGTGAACCCCC CACCACTCCCTCGCCCGTGAGCCCCCCCACCACTCCCTCCCTGTGAGCCC CCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCCTGTGAGCC CCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCCCTCCCCGT GAACCCCCA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0023 a0004c0004t0001g0023	1	30	0.0333	308	c.255 others(325): Show c.2552+151_2552+152insAGCCCCCCCACCACTCCCTCCCCGTGAA CCCCCCCACCACTCCCTCCCTGTGACCCCCCCACCACTGCCCTCCCCGTG AGCCCCCCCACCACTCCCTCCCCGTGAACCCCCCACCACTCCCTCCCCGT GAACCCCCCACCACTCCCTCGCCCGTGAGCCCCCCCACCACTCCCTCCCT GTGAGCCCCCCGACCGCTCCCTCCCCGTGAGGCCCCCCACCACTCCCTCC TGTGAGCCCCCCCGGACCACTCCCTCCCCGTGAGGCCCCCCACCACTCCC CTCCCCGTGAACCCCCACACTCCCTCCCCG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABR_chr17_998519_1184981	1052370	C C	CGGAAGGG others(301): Show CGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCGGGAAG GGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGCTCACAGGGTCAGAGGGAGGGTTCCGGAACGGGCTGGGGGAGGGCTCA CAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGT CAGAGGGAGGGTTCCGGAACGGGCTGGGGGAGGGCTCACAGGGTCAGAGG GAGGGTTCG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 NA18906.hp1 HG03209.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0042 a0001c0002t0060 a0001c0002t0007 a0001c0002t0042 a0001c0002t0060	a0001c0002t0007g0295 a0001c0002t0042g0016 a0001c0002t0060g0234 a0001c0002t0007g0295 a0001c0002t0042g0016 a0001c0002t0060g0234	3	337	0.0089	308	c.156 others(327): Show c.1562-1737_1562-1736insCGAACCCTCCCTCTGACCCTGTGAGC CCTCCCCCAGCCCGTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCC CCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCC CGTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCC GGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCCGAACCCTCCCT CTGACCCTGTGACCCCTCCCCCAGCCCCTTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288457	C C	CCGTGTCT others(301): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	308	c.51 others(319): Show c.5106_*5107insACGGAGCAGAGACACGGGACGGAGCAGAGACTCG GGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAG CAGGGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGA GACACGGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3933		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289579	T T	TCCCGTGT others(301): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	295	0.0034	308	c.39 others(319): Show c.3984_*3985insGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2811		chr1	TogoVar
ACOT11_chr1_54543228_54615329	54561776	C C	CAGAGGGG others(301): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCTCTCACCTCCCGGACGGGGCAGCTG GCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	388	0.0026	308	c.33+ others(325): Show c.33+13434_33+13435insAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC AGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCTCTC ACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGCCGGGT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACP6_chr1_147637230_147675524	147653083	T T	TCCCAAAT others(301): Show TCCCAAATTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTGTTTT ACTGGTTTTTTTTTTTTTTGAGATGGAGTCTTGCCCTGTCACCCAGGTTG GAATGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTC ACGCCATTTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCC GCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCTT CTCGGCCTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0125 a0001c0003t0003g0125	1	404	0.0025	308	c.781 others(323): Show c.781-535_781-534insGAGGCCGAGAAGGGTGGATCACGAGGTCAG GAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTA CTCAGGAGGCTGAGACAGGAAAATGGCGTGAACCCGGGAGGTGGAGCTTG CAGTGAGCCGAGATCACGCCACTGCATTCCAACCTGGGTGACAGGGCAAG ACTCCATCTCAAAAAAAAAAAAAACCAGTAAAACAGGCCAGGCGCGGTGG CTCACACCTGTAATCCCAGCAATTTGGG	ACP6	ENSG00000162836.12	transcript	ENST00000583509.7	protein_coding	6/9			chr1	TogoVar
ACSS2_chr20_34871612_34932959	34885959	T T	TAGGCAAT others(301): Show TAGGCAATTACTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG02976.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0013 a0002c0004t0001g0014	2	312	0.0064	308	c.374 others(325): Show c.374+2985_374+2986insTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAGGCAATTACTATTT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACVR2A_chr2_147840029_147935822	147892494	A A	AAACTTTT others(301): Show AAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	338	0.0030	308	c.56- others(323): Show c.56-3798_56-3797insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCAACTTTTTT	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(301): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGG AAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAG GGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGA TGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0035 a0002c0022t0035	a0002c0022t0035g0040 a0002c0022t0035g0040	1	228	0.0044	308	c.259 others(329): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTC TCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(301): Show ACCATTTTAAACATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCACTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC ACGCCCAGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00621.hp2 others(19): Show HG00438.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG01433.hp1 HG01981.hp2 HG02015.hp1 HG02155.hp1 HG02293.hp2 HG03225.hp1 HG03654.hp1 NA18943.hp1 NA18962.hp1 NA18964.hp1 NA18988.hp1 NA19012.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19081.hp1 NA19088.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0001c0007 a0001c0010 others(7): Show a0001c0002 a0001c0007 a0001c0010 a0001c0017 a0001c0041 a0001c0074 a0003c0006 a0003c0012 a0005c0024 a0005c0075	a0001c0002t0004 a0001c0002t0007 a0001c0007t0002 others(16): Show a0001c0002t0004 a0001c0002t0007 a0001c0007t0002 a0001c0007t0004 a0001c0007t0018 a0001c0010t0007 a0001c0010t0009 a0001c0017t0002 a0001c0017t0037 a0001c0041t0040 a0001c0074t0002 a0003c0006t0001 a0003c0006t0003 a0003c0012t0001 a0003c0012t0003 a0003c0012t0043 a0003c0012t0049 a0005c0024t0002 a0005c0075t0071	a0001c0002t0004g0158 a0001c0002t0007g0180 a0001c0007t0002g0057 others(19): Show a0001c0002t0004g0158 a0001c0002t0007g0180 a0001c0007t0002g0057 a0001c0007t0004g0137 a0001c0007t0018g0046 a0001c0010t0007g0130 a0001c0010t0009g0022 a0001c0017t0002g0138 a0001c0017t0002g0156 a0001c0017t0002g0173 a0001c0017t0037g0047 a0001c0041t0040g0165 a0001c0074t0002g0188 a0003c0006t0001g0056 a0003c0006t0003g0036 a0003c0012t0001g0225 a0003c0012t0003g0049 a0003c0012t0043g0118 a0003c0012t0049g0143 a0005c0024t0002g0135 a0005c0024t0002g0153 a0005c0075t0071g0187	22	228	0.0965	308	c.790 others(325): Show c.790-8337_790-8336insGCTGGGCGTGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(301): Show ACCATTTTAAACATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCACTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(72): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18955.hp2 NA18975.hp2 NA18983.hp1 NA18984.hp2 NA18993.hp2 NA19000.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19065.hp1 NA19088.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0002 a0001c0005 a0001c0007 others(28): Show a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0001c0014 a0001c0018 a0001c0025 a0001c0034 a0001c0046 a0001c0047 a0002c0001 a0002c0004 a0002c0011 a0002c0022 a0002c0057 a0002c0064 a0002c0070 a0002c0071 a0003c0006 a0003c0009 a0003c0015 a0003c0019 a0003c0048 a0004c0003 a0004c0008 a0004c0031 a0005c0040 a0006c0016 a0007c0023 a0008c0067 a0010c0063	a0001c0002t0002 a0001c0002t0065 a0001c0005t0002 others(57): Show a0001c0002t0002 a0001c0002t0065 a0001c0005t0002 a0001c0005t0011 a0001c0005t0012 a0001c0005t0072 a0001c0007t0018 a0001c0010t0020 a0001c0014t0030 a0001c0018t0010 a0001c0018t0016 a0001c0018t0070 a0001c0025t0008 a0001c0034t0060 a0001c0046t0008 a0001c0047t0005 a0002c0001t0002 a0002c0001t0004 a0002c0001t0005 a0002c0001t0007 a0002c0001t0024 a0002c0001t0033 a0002c0001t0055 a0002c0001t0056 a0002c0004t0002 a0002c0004t0004 a0002c0004t0006 a0002c0004t0007 a0002c0004t0019 a0002c0004t0032 a0002c0004t0074 a0002c0011t0022 a0002c0011t0063 a0002c0022t0005 a0002c0057t0022 a0002c0064t0005 a0002c0070t0067 a0002c0071t0025 a0003c0006t0001 a0003c0006t0021 a0003c0006t0048 a0003c0009t0001 a0003c0009t0050 a0003c0015t0001 a0003c0015t0003 a0003c0019t0001 a0003c0048t0041 a0004c0003t0001 a0004c0003t0003 a0004c0003t0027 a0004c0008t0001 a0004c0008t0003 a0004c0031t0001 a0005c0040t0004 a0006c0016t0002 a0006c0016t0024 a0006c0016t0059 a0007c0023t0001 a0008c0067t0004 a0010c0063t0068	a0001c0002t0002g0169 a0001c0002t0065g0071 a0001c0005t0002g0075 others(72): Show a0001c0002t0002g0169 a0001c0002t0065g0071 a0001c0005t0002g0075 a0001c0005t0011g0179 a0001c0005t0012g0211 a0001c0005t0072g0133 a0001c0007t0018g0045 a0001c0010t0020g0004 a0001c0014t0030g0001 a0001c0018t0010g0006 a0001c0018t0010g0007 a0001c0018t0016g0223 a0001c0018t0070g0119 a0001c0025t0008g0077 a0001c0034t0060g0157 a0001c0046t0008g0112 a0001c0047t0005g0209 a0002c0001t0002g0059 a0002c0001t0002g0174 a0002c0001t0004g0121 a0002c0001t0005g0191 a0002c0001t0007g0094 a0002c0001t0024g0175 a0002c0001t0033g0010 a0002c0001t0055g0087 a0002c0001t0056g0074 a0002c0004t0002g0167 a0002c0004t0004g0151 a0002c0004t0006g0099 a0002c0004t0007g0204 a0002c0004t0019g0048 a0002c0004t0032g0039 a0002c0004t0074g0228 a0002c0011t0022g0103 a0002c0011t0063g0053 a0002c0022t0005g0097 a0002c0022t0005g0181 a0002c0057t0022g0073 a0002c0064t0005g0150 a0002c0070t0067g0164 a0002c0071t0025g0162 a0003c0006t0001g0170 a0003c0006t0021g0088 a0003c0006t0021g0089 a0003c0006t0048g0134 a0003c0009t0001g0110 a0003c0009t0050g0086 a0003c0015t0001g0085 a0003c0015t0003g0041 a0003c0019t0001g0152 a0003c0048t0041g0168 a0004c0003t0001g0068 a0004c0003t0001g0069 a0004c0003t0001g0093 a0004c0003t0001g0098 a0004c0003t0001g0101 a0004c0003t0001g0190 a0004c0003t0003g0012 a0004c0003t0027g0034 a0004c0008t0001g0061 a0004c0008t0001g0100 a0004c0008t0001g0114 a0004c0008t0001g0163 a0004c0008t0003g0024 a0004c0008t0003g0042 a0004c0031t0001g0070 a0005c0040t0004g0132 a0006c0016t0002g0082 a0006c0016t0002g0194 a0006c0016t0024g0200 a0006c0016t0059g0096 a0007c0023t0001g0072 a0007c0023t0001g0206 a0008c0067t0004g0083 a0010c0063t0068g0055	75	228	0.3290	308	c.790 others(325): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(301): Show ACCATTTTAAACATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCAGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0054 a0005c0032t0054	a0005c0032t0054g0060 a0005c0032t0054g0060	1	228	0.0044	308	c.790 others(325): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(301): Show ACCATTTTAAACATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCACTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCAGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG04228.hp2 HG00099.hp2 HG04228.hp2	a0004 a0008 a0004 a0008	a0004c0003 a0008c0058 a0004c0003 a0008c0058	a0004c0003t0001 a0008c0058t0005 a0004c0003t0001 a0008c0058t0005	a0004c0003t0001g0084 a0008c0058t0005g0149 a0004c0003t0001g0084 a0008c0058t0005g0149	2	228	0.0088	308	c.790 others(325): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(301): Show ACCATTTTAAACATTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCAGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG04115.hp2 NA19000.hp2 HG00558.hp1 HG04115.hp2 NA19000.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0001 a0004c0054 a0007c0023 a0002c0001 a0004c0054 a0007c0023	a0002c0001t0073 a0004c0054t0001 a0007c0023t0026 a0002c0001t0073 a0004c0054t0001 a0007c0023t0026	a0002c0001t0073g0227 a0004c0054t0001g0080 a0007c0023t0026g0031 a0002c0001t0073g0227 a0004c0054t0001g0080 a0007c0023t0026g0031	3	228	0.0132	308	c.790 others(325): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100292165	G G	GGGAGTCA others(301): Show GGGAGTCACGAGAGACGCTCACCCCGTGAGAAACTACGAGACACGCTCAC CCCGTGGGGAGTCACGAGAGACGCTCACCCCGTGGGGAGTCACGAGAGAC GCTCACCCCGTGGGGAGTCACGAGAGACGCTCACCCCGTGGGGAGTCACG AGAGACGCTCACCCCGTGGGGAGTCACGAGAGACGCTCACCCCGTGGGGA GTCACGAGAGACGCTCACCCCGTGGGGAGTCACGAGAGACGCTCACCCCG TGGGGAGTCACGAGAGACGCTCACCCCGTGGGGAGTCACGAGAGACGCTC AGCCCGTGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG03669.hp2 HG01257.hp2 HG01258.hp2 HG03669.hp2	a0001 a0005 a0001 a0005	a0001c0021 a0005c0020 a0001c0021 a0005c0020	a0001c0021t0005 a0005c0020t0005 a0001c0021t0005 a0005c0020t0005	a0001c0021t0005g0219 a0005c0020t0005g0220 a0005c0020t0005g0221 a0001c0021t0005g0219 a0005c0020t0005g0220 a0005c0020t0005g0221	3	228	0.0132	308	c.617 others(327): Show c.617-10765_617-10764insTCACGGGCTGAGCGTCTCTCGTGACT CCCCACGGGGTGAGCGTCTCTCGTGACTCCCCACGGGGTGAGCGTCTCTC GTGACTCCCCACGGGGTGAGCGTCTCTCGTGACTCCCCACGGGGTGAGCG TCTCTCGTGACTCCCCACGGGGTGAGCGTCTCTCGTGACTCCCCACGGGG TGAGCGTCTCTCGTGACTCCCCACGGGGTGAGCGTCTCTCGTGACTCCCC ACGGGGTGAGCGTCTCTCGTGACTCCCCACGGGGTGAGCGTGTCTCGTAG TTTCTCACGGGGTGAGCGTCTCTCGTGACTCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADAMTS3_chr4_72275969_72574221	72456174	A A	ATATACTG others(301): Show ATATACTGTATATACTATATATATTTTATATATAGTATATATACTGTATA TACTATATATATTTTATATATAGTATATATACTGTATATACTATATATAT TTTATATATATTTTATATATAGTATGTACTCTATATATTTTATATATAGT ATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATA TAGTATGTACTCTATATATTTTATATATAGTATGTACTATATATTTTATA TATAGTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATA TATAGTATG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18971.hp1 NA18962.hp2 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0122 a0002c0002t0001g0123	2	182	0.0110	308	c.505 others(327): Show c.505-41204_505-41203insCATACTATATATAAAATATATAGTAC ATACTATATATAAAATATATAGTACATACTATATATAAAATATATAGTAC ATACTATATATAAAATATATAGAGTACATACTATATATAAAATATATAGA GTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATA TAGAGTACATACTATATATAAAATATATATAAAATATATATAGTATATAC AGTATATATACTATATATAAAATATATATAGTATATACAGTATATATACT ATATATAAAATATATATAGTATATACAGTATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500842	A A	AGGGAGGA others(301): Show AGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGA GGGGGAGGGGGAGGAGGGAGGAGGGAGGGGGGAGGAGGGGGGGAGGAGGG GAGGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGAAGGAG GAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAG GGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAG GAGGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	352	0.0028	308	c.51 others(319): Show c.5172_*5173insCGTCCCCTCCTCCCCGCCCTCCCCTCCTCCCCCC TCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTC CCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCTCCTCCCCCTCCCCTCC TCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCCTCCCCT CCTCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCT CCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCCTCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4179		chr19	TogoVar
ADCY2_chr5_7391138_7835081	7704000	C C	CAAAAAAA others(301): Show CAAAAAAAAAAAAAAGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0017 a0007c0020t0001g0017	1	140	0.0071	308	c.111 others(327): Show c.1110-2731_1110-2730insAGTTTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTT CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCT GCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRA3_chr4_22382376_22521066	22414000	T T	TAAAAGAA others(301): Show TAAAAGAAGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02896.hp1 others(2): Show HG02572.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0029 a0002c0003 a0001c0002 a0001c0029 a0002c0003	a0001c0002t0001 a0001c0029t0002 a0002c0003t0001 a0001c0002t0001 a0001c0029t0002 a0002c0003t0001	a0001c0002t0001g0034 a0001c0029t0002g0018 a0002c0003t0001g0030 others(2): Show a0001c0002t0001g0034 a0001c0029t0002g0018 a0002c0003t0001g0030 a0002c0003t0001g0115 a0002c0003t0001g0118	5	290	0.0172	308	c.181 others(325): Show c.1810-187_1810-186insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTACTTCTTTT	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	12/18			chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61847833	A A	ATATATAT others(301): Show ATATATATAATATAAAATATATTATATATAATATAAAATATATTATATAT AATATAAAATATATTATATATATAATATAAAATATATTATATATATAATA TAAAATATATTATATATATAATATAAAATATATTATATATATAATATAAA ATATATTATATATAATATAAAATATATTATATATAATATAAAATATATTA TATATAATATAAAATATATTATATATATAATATAAAATATATTATATATA TAATATAAAATATATTATATATATAATATAAAATATATTATATATAATAT AAAATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0058 a0001c0002t0033g0058	1	58	0.0172	308	c.148 others(329): Show c.1480+34015_1480+34016insTAATATAAAATATATTATATATAT AATATAAAATATATTATATATATAATATAAAATATATTATATATATAATA TAAAATATATTATATATAATATAAAATATATTATATATAATATAAAATAT ATTATATATAATATAAAATATATTATATATATAATATAAAATATATTATA TATATAATATAAAATATATTATATATATAATATAAAATATATTATATATA ATATAAAATATATTATATATAATATAAAATATATTATATATAATATAAAA TATATTATATATAATATAAAATATATTATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61847896	T T	TTATATAT others(301): Show TTATATATATAATATAAAATATATTATATATATAATATAAAATATATTAT ATATAATATAAAATATATTATATATAATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATATAATATAAAATATAT TATATATATAATATAAAATATATTATATATAATATAAAATATATTATATA TAATATAAAATATATTATATATAATATAAAATATATTATATATAATATAA AATATATTA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0036 a0001c0014t0036	a0001c0014t0036g0048 a0001c0014t0036g0048	1	58	0.0172	308	c.148 others(329): Show c.1480+34015_1480+34016insTAATATAAAATATATTATATATAT AATATAAAATATATTATATATAATATAAAATATATTATATATAATATAAA ATATATTATATATAATATAAAATATATTATATATAATATAAAATATATTA TATATATAATATAAAATATATTATATATATAATATAAAATATATTATATA TATAATATAAAATATATTATATATATAATATAAAATATATTATATATAAT ATAAAATATATTATATATAATATAAAATATATTATATATAATATAAAATA TATTATATATAATATAAAATATATTATATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFAP1_chr4_7753714_7944861	7790660	T T	TAAAAACA others(301): Show TAAAAACACTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 NA18522.hp2 HG01109.hp1 HG01884.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0017 a0001c0012t0018 a0001c0003t0017 a0001c0012t0018	a0001c0003t0017g0207 a0001c0012t0018g0199 a0001c0012t0018g0203 a0001c0003t0017g0207 a0001c0012t0018g0199 a0001c0012t0018g0203	3	318	0.0094	308	c.141 others(327): Show c.1412+3020_1412+3021insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAAAGTGTTTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	11/17			chr4	TogoVar
AFF2_chrX_148495617_149005663	148581072	C C	CACACATA others(301): Show CACACATATATACACATATGTGTATATATGTATATATACACATATATACA CATATGTGTATATGTATATGTACACATATATACACATATGTGTATATGTA TATGTACACATATATACACATATGTGTATATGTATATGTACACATATATA CACATATGTGTATATGTATATGTACACATATATACACATATGTGTATATG TATATGTACACATATATACACATATGTGTATATGTATATGTACACATATA TACACATATGTGTATATGTATATGTACACATATATACACATATGTGTATA TGTATATGT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0024 a0001c0001t0083g0024	1	169	0.0059	308	c.48- others(325): Show c.48-70914_48-70913insCATATGTGTATATATGTATATATACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACATATATACACATATG TGTATATGTATATGTACACATATATACACATATGTGTATATGTATATGTA CACATATATACACATATGTGTATATGTATATGTACACATATATACACATA TGTGTATATGTATATGTACACATATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(301): Show TACACATATGTGTATATGTATATACACACATATATACACATATGTGTATA TGTATATATACACATATATACACATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CACATATAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	169	0.0059	308	c.48- others(325): Show c.48-70914_48-70913insCATATGTGTATATGTATATACACACATA TATACACATATGTGTATATGTATATATACACATATATACACATATGTGTA TATGTATATATACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACATATATACACATATG TGTATATGTATATGTACACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(301): Show TACACATATGTGTATATGTATATATACACATATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CACATATAC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	169	0.0059	308	c.48- others(325): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATGTATATGTACACA TATATACACATATGTGTATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACATATATACACATATG TGTATATGTATATGTACACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(301): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATACACGTATTTCCATATAGAT ATTCTATAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	236	0.0042	308	c.409 others(327): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TGTATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATATGGAAATACGTATATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(301): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	236	0.0042	308	c.409 others(327): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATATGGAAATACGTATATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKAP10_chr17_19899302_19982828	19910326	A A	AAAAAAAA others(301): Show AAAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGCTCACACCTGTAA TCCTAGCACTTTGGGAGGCTGAGGTGGATGGATCACCTGAGGTCAGGAGT TTGAGACCAGCCTGGCCAACATGACGAAACCATGTCTCTACTAAAAATAT AAATAATAAAAAAAATTAGCTGGGTAGTAGGCACCTGTAATCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCAGGAGGCGGAGGTTGC AGTAAGTCTAGATCGCACCATTGCACTACAGTCTGGGTGACAGAGCAAGA CTCTGTCTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02083.hp2 others(13): Show HG00408.hp2 HG00438.hp2 HG02083.hp2 HG02155.hp2 NA18944.hp2 NA18951.hp1 NA18957.hp2 NA18961.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA19012.hp1 NA19063.hp1 NA19070.hp2 NA19077.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0008 a0003c0003t0015 others(1): Show a0003c0003t0005 a0003c0003t0008 a0003c0003t0015 a0003c0003t0029	a0003c0003t0005g0236 a0003c0003t0005g0239 a0003c0003t0005g0243 others(13): Show a0003c0003t0005g0236 a0003c0003t0005g0239 a0003c0003t0005g0243 a0003c0003t0005g0244 a0003c0003t0005g0246 a0003c0003t0005g0248 a0003c0003t0005g0252 a0003c0003t0005g0272 a0003c0003t0008g0241 a0003c0003t0008g0247 a0003c0003t0008g0268 a0003c0003t0008g0269 a0003c0003t0008g0270 a0003c0003t0015g0240 a0003c0003t0015g0250 a0003c0003t0029g0242	16	278	0.0576	308	c.183 others(325): Show c.1835-349_1835-348insGAGACAGAGTCTTGCTCTGTCACCCAGA CTGTAGTGCAATGGTGCGATCTAGACTTACTGCAACCTCCGCCTCCTGGG TTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTG CCTACTACCCAGCTAATTTTTTTTATTATTTATATTTTTAGTAGAGACAT GGTTTCGTCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGAT CCATCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCA TGCCCGGCCTTTTTTTTTTTTTTTTTTTTT	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	12/14			chr17	TogoVar

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Search Results (Total: 10000 hits)