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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Select column to sort.

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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
RBFOX3_chr17_79084345_79616051	79495650	C C	CGGGAAGG others(868): Show CGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGC AGAGGGTGGGGAGGTGGGGCAGGGGTACTGGGGGCAGGGATGGGGATGTG GGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGAGGGGTGCAG AGGGTGGGGAGGTGGGGGAAAGGGTACTGGGGCAGGGATGGGGGTGCAGG AAGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGG GGTACTGGGGGCAGGGATGGGGGTGCGGGAAGGTGGGGGAGGGGTGCAGA GGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGCAGGGG TACTGGGGGCAGGGATGGGGATGTGGGAAGGTGGGGGAGGGGTGCAGAGG GTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGGGG TACTGGGGGCAGGGATGGGGATGTGGGAAGGTGGGGGAGGGGTGCAGAGG GTGGGGAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGGT GCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGG AGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGG TGGGGGAGGGGTGCAGAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTG GGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAGGGGTACT GGGGGCAGGGATGGGGATGTGGGAAGGTGGGAAGGTGGGGGAGGGGTGCA GAGGGTGGGAAGGTGGGGGAGGGGTGCAGAGGGTGGGGAGGTGGGGGCAG GGTACTGGGGGCAGGGATGGGGATGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0116 a0001c0001t0006g0116	1	154	0.0065	875	c.-31 others(896): Show c.-319-13053_-319-13052insACATCCCCATCCCTGCCCCCAGTA CCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCC TCTGCACCCCTCCCCCACCTTCCCACCTTCCCACATCCCCATCCCTGCCC CCAGTACCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTT CCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCC CACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCC CTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCCCACCCTCT GCACCCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTCCCC ACCCTCTGCACCCCTCCCCCACCTTCCCACATCCCCATCCCTGCCCCCAG TACCCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTCCCC ACCCTCTGCACCCCTCCCCCACCTTCCCACATCCCCATCCCTGCCCCCAG TACCCCTGCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCAC CCTCTGCACCCCTCCCCCACCTTCCCGCACCCCCATCCCTGCCCCCAGTA CCCCTGCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTTCCCACC TTCCTGCACCCCCATCCCTGCCCCAGTACCCTTTCCCCCACCTCCCCACC CTCTGCACCCCTCCCCCACCTCCCCACCCTCTGCACCCCTCCCCCACCTT CCCACATCCCCATCCCTGCCCCCAGTACCCCTGCCCCACCTCCCCACCCT CTGCACCCCTCCCCCACCTTCCCACCCTCTGCACCCCTCCCCCACCTTCC C	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(868): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATG GACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGT GGCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCC TGACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCT GGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGC ACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAA AAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCA ATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02451.hp1 HG02559.hp1 others(6): Show HG00438.hp1 HG02451.hp1 HG02559.hp1 HG03225.hp1 HG03540.hp1 HG04115.hp2 NA19011.hp1 NA19067.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0025	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0044 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0001g0080 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0025g0043	9	338	0.0266	875	c.-26 others(894): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGTAAAGGACATATCATATTTATTCATACACATGCTGGAATTAT TGGTGCAGACATTTAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTT TTTTTTTTGATGGAGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGT GCAATCTCAGCTCACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCC AGCTAATTTTTTTTATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCA GGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCC ACAGTGCTGGGATTACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTC CATTCTTTTTTTTTTTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGAT AATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAA TAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTT TCCTAGGCAGAGGACCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTA CTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAG CATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCT GAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCA CAGATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAA ATGAAAAGTCTCCCATGTCTACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	90911535	T T	TAGAAACA others(868): Show TAGAAACAGCTCTCAGTAGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCGCC CCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACA ATGGCGGCTTTGCGGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAG AAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAATAGACATGGGAGACT TTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTT GATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGT CCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAA CAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAAT CTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTCTGC CTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCT CCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCA AGAATTATCAATAAAAAAATAAATTAAAAAAAAAATAAATAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0294	1	306	0.0033	875	c.807 others(892): Show c.807-5237_807-5236insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTATTTATTTTTTTTTTAATTTATTTTTTTATTGATAATTCTTG GGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAG GGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGC AGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGAT TAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTT TAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGAC ACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAA CAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAG TCTCCCATGTCTATTTCTTTCTACACAGACACGGCAACCATCCGATTTCT CAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCGCAAAGCCGCCATTG TCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGACGGGG CGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCCGACCTACTGAGAGCTGTTTCT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	7/16			chr14	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(868): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGG AGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAA GAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAG GGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGG AGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAA AGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGG AGAAGGAGGAGGAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGA ATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0125 a0001c0002t0012g0125	1	314	0.0032	875	c.916 others(892): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCTATTC CCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATTCCTCCTCCTTCTCC TCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTT TCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCC TCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCT TTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTT CCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCC TCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTC CCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTG TTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTC TTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCT CCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCT CCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(868): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01255.hp2 others(4): Show HG00735.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01981.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0001c0008 others(1): Show a0001c0002 a0001c0007 a0001c0008 a0002c0010	a0001c0002t0001 a0001c0002t0022 a0001c0007t0050 others(2): Show a0001c0002t0001 a0001c0002t0022 a0001c0007t0050 a0001c0008t0027 a0002c0010t0003	a0001c0002t0001g0195 a0001c0002t0022g0004 a0001c0002t0022g0005 others(4): Show a0001c0002t0001g0195 a0001c0002t0022g0004 a0001c0002t0022g0005 a0001c0002t0022g0006 a0001c0007t0050g0002 a0001c0008t0027g0165 a0002c0010t0003g0209	7	314	0.0223	875	c.916 others(892): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTC TCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCC TTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCC TTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCC TCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTC TTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCC TTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCC TCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTC CCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTG TTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTC TTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCT CCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCT CCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(868): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0062 a0003c0014t0062	a0003c0014t0062g0307 a0003c0014t0062g0307	1	314	0.0032	875	c.916 others(892): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTC TCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCC TTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCC TTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCC TCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTC TTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCC TTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCC TCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTC CCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTG TTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTC TTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCT CCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCT CCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(868): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0079 a0002c0006t0002g0079	1	314	0.0032	875	c.916 others(892): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCT TTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCC CTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTC CTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCT CTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTC CCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTG TTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTC TTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCT CCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCT CCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(868): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	314	0.0032	875	c.916 others(892): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCT TTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCC CTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTC CTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCT CTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTC CCCTCCTCCTCCTTCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTG TTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTC TTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCT CCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCT CCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(868): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAAGGCAGAGGAGGAGGAGG AGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAGGAGGAGAAGGAAGAAAGG GCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGAGGAGGAGGAGGGGAAAGA AGAGGATAAGGAAGAAAGGGAAGAGGAGAGGGAAGAAGAGGAGGAGGAGG GGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAGAGGAGGAGGAGGGGAAGG AAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAGGAGGAGGAAGAGAAAAGG AGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAATGGGAGGAGGAGGAGAGA ATAGAGGAGGAGGAGGGAATAGAGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGGGAGAAGGGAGGAGG AGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0290 a0001c0008t0027g0290	1	314	0.0032	875	c.916 others(892): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTC TCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCC TTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCC TTCCCCTCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCC TCCTCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTC TTTCCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCC TTTCTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCC TCCTCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTC CCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTG TTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTC TTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCT CCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCT CCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(868): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAAGAGAAAAGGAGGAGGAGGAAAAGGAGGAGGAGGGGAAGGAGGAGGAG AAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAGA GAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAACA GGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGGAGGGGA AGGAGAAGAAGGAGGAGGAGGGGAAGGAGAAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAG GGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGA AGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAAGAAGAG GAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAAAGAGGA GGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGGAGAGGG AAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAGAAAAAG AGGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAGAAG GAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAGGAA TGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAG GAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0052 a0002c0006t0009g0052	1	314	0.0032	875	c.916 others(892): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCCCCTCC TCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCTATTCCCTCCTCCTCCTCTATTCTCTCCTCCTCCTCCCATT CCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCCTTTTCTCTTCCTCCTCCT TCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCCTTCCCCTCCTCCTCCTCT TTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCCTCCTCCTCTTCTTCC CTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTTCCCCTCCTCCTCCTC CTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTTCTTCCTTCTCCTCCT CTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCCTCCTCCTCTGCCTTC TCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCT TCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTC CCCTCCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTCCTCCTCCTG TTCCTCCTTCTCCTTTTCCTCCTCCTTCCCCTTCTCCTCCTCCTTTTCTC TTCCTCCTCCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCCCTTTCTTCT CCTCCTCCTTCCCCTCCTCCTCCTTTTCCTCCTCCTCCTTTTCTCTTCCT CCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SHROOM3_chr4_76430229_76788253	76608743	T T	TAGCATAG others(868): Show TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCA TAGCATAGCATAGCATAGCATAGCAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0200 a0002c0002t0003g0200	1	218	0.0046	875	c.323 others(894): Show c.323+52984_323+52985insTAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT AGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCACAGCA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(868): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGA GGGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGA GGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGG CAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGA GGCAGGGAGACAGGGAGGCAGGGAGGCAGGGAGACAGGGAGGCAGGGAGG GAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGA GGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGA GGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGAGGGA GAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGGCAGGGAGAGA GGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGGGAGAGGTAGG GAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0028 a0002c0043t0028	a0002c0043t0028g0052 a0002c0043t0028g0052	1	132	0.0076	875	c.227 others(894): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTG CCTCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCC TCTCCCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCC TCCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCC TCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTC CCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCGCTCCCTCCCTGCCTCCC TCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SRXN1_chr20_641615_658200	641878	C C	CGGGGGCC others(868): Show CGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTG TGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	875	c.68 others(886): Show c.6835_*6836insCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAAC TCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACC CCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4736		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(868): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGG GAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGGGGGGGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0312 a0001c0001t0085g0312	1	322	0.0031	875	c.597 others(892): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCT TCCTTTCCTCCCCCCCCCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTCCTTTCCTC CCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(868): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATATTATATATTTATATTTTATTTTTATATTTATATTA TATATATATTTTTATATTTATATTTATATATTATTATATTATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0011 a0003c0030t0011	a0003c0030t0011g0051 a0003c0030t0011g0051	1	128	0.0078	875	c.143 others(896): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATA TATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT T	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(868): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATATCATATATATTTATATA TTGTATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATATTATATATTTATATTTTATTTTTATATTTATATTA TATATATATTTTTATATTTATATTTATATATTATTATATTATATTTATAT ATTATATAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0016 a0005c0021t0016	a0005c0021t0016g0066 a0005c0021t0016g0066	1	128	0.0078	875	c.143 others(896): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATATCATATATATTTATATATTGTAT AAAAATATATATATCATATATATTTATATATTATATAAAAATATATATAT CATATATATTTATATATTATATAAAAATATATATATCATATATATTTATA TATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATATA TATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT T	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRAF6_chr11_36478769_36515272	36507402	C C	CATACGTA others(868): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TACATACATGTATTATACATACGTAAATGTATATATGTATACACACATGT ATTATACATACGTAAATGTATATATGTATACATACATGTATTATACATAC GTAAATGTATATATGTATACATACATGTATTATACATACGTAAATGTATA TATGTATACATACATGTATTATACATACGTAAATGTATATATGTATACAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATACATACATGTATTATACATACGTAAA TGTATATATGTATACATACATGTATTATACATACGTAAATGTATATATGT ATACATACATGTATTATACATACGTAAATGTATATATGTATATATACATG TATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATA CGTAAATGTATATGTATATATACATGTATTATACATACGTAAATGTATAT ATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATATA CATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTA TACATACGTAAATGTATATATATACATTATACATACGTAAATGTATATAT ATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0276 a0001c0001t0010g0276	1	388	0.0026	875	c.-23 others(892): Show c.-23+2645_-23+2646insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATGTATATATACATTA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATACATGTA TATATACATATATACATTTACGTATGTATAATACATGTATATATACATAT ATACATTTACGTATGTATAATACATGTATATATACATATACATTTACGTA TGTATAATACATGTATATATACATATATACATTTACGTATGTATAATACA TGTATATATACATATATACATTTACGTATGTATAATACATGTATGTATAC ATATATACATTTACGTATGTATAATACATGTATGTATACATATATACATT TACGTATGTATAATACATGTATGTATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATGTAT GTATACATATATACATTTACGTATGTATAATACATGTATGTATACATATA TACATTTACGTATGTATAATACATGTATGTATACATATATACATTTACGT ATGTATAATACATGTATGTATACATATATACATTTACGTATGTATAATAC ATGTGTGTATACATATATACATTTACGTATGTATAATACATGTATGTATA CATATATACATTTACGTATGTATAATACATGTATATATACATATATACAT TTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(868): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTTGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0034 a0001c0002t0012g0034	1	344	0.0029	875	c.218 others(892): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTG GAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABCC4_chr13_95014835_95306451	95025395	A A	ACACACAC others(869): Show ACACACACACATACCCCCACCACACACCCACACACCCCCTCACACACACA CCCACACCCACCACACACCCCCACCACACACCCACATACACCCACACCCC CACCACACACCCATACACACACCCCCACATACTAATACACACACACCCCC ACACCCTCCCACCCCCCCACACCCCCACCACACACCAATACACACCCACA CACCCCCTCACACACACACCCACACACCCATACACACACCCACCACACAC CCATACATACACACCCCCACACCCCCTCACACCCTTCCCCCACTCACCCA TACACAACCCCCCACCACACCCCCACACCCATACACACACACCCCCACCA CACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCACACAC CCATACACACACCCCCACCACACCCCCACACCCATACACACACACACCCC CACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCT CACCCATACACAACCCCCACCACACCCCCACACCCATACACACACACACC CCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCC CTCACCCATACACAACCCCCACCACACCCCCACACCCATACACACACACA CCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCC CCCCACACACCCATACACACACCCCCACACCCCCACCACACCCATACACA CACACCCGTACCCCCTCACACCCTCCCCCCACACACCTATCCCCACCACA CACCCATACACACACACCCACACACACACCACACCCATACACACACATAC CCCCACACCCCCACACACACCCTCCCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0128 a0001c0009t0001g0128	1	248	0.0040	876	c.387 others(895): Show c.3871-3714_3871-3713insAGGGAGGGTGTGTGTGGGGGTGTGGG GGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGGT GTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGT GTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGGG GGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGG GTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGA GGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGG GGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGT GAGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATG GGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGT GTGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGGTTGTGT ATGGGTGAGTGGGGGAAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATG GGTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGT GTGTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTG TGGGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGT GGGGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGG GTGTGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025395	A A	ACACACAC others(869): Show ACACACACACATACCCCCACCACACACCCACACACCCCCTCACACACACA CCCACACCCACCACACACCCCCACCACACACCCACATACACCCACACCCC CACCACACACCCATACACACACCCCCACATACTAATACACACACACCCCC ACACCCTCCCACCCCCCCACACCCCCACCACACACCAATACACACCCACA CACCCCCTCACACACACACCCACACACCCATACACACACCCACCACACAC CCATACATACACACCCCCACACCCCCTCACACCCTTCCCCCACTCACCCA TACACAACCCCCCACCACACCCCCACACCCATACACACACACCCCCACCA CACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCACACAC CCATACACACACCCCCACCACACCCCCACACCCATACACACACACCCCCA CCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCACA CACCCATACACACACCCCCACCACACCCCCACACCCATACACACACACAC CCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCC CCTCACCCATACACAACCCCCACCACACCCCCACACCCATACACACACAC ACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCC CCCCACACACCCATACACACACCCCCACACCCCCACCACACCCATACACA CACACCCGTACCCCCTCACACCCTCCCCCCACACACCTATCCCCACCACA CACCCATACACACACACCCACACACACACCACACCCATACACACACATAC CCCCACACCCCCACACACACCCTCCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0129 a0001c0045t0001g0129	1	248	0.0040	876	c.387 others(895): Show c.3871-3714_3871-3713insAGGGAGGGTGTGTGTGGGGGTGTGGG GGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGGT GTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGT GTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGGG GGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGG TGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGT GTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTG GTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATG GGTGTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGT GTGGTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGGTTGTGT ATGGGTGAGTGGGGGAAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATG GGTGTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGT GTGTGGGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTG TGGGGGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGT GGGGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGG GTGTGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ACAP3_chr1_1287391_1312930	1288493	T T	TCCCCCGT others(869): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCTGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCTGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CTGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	295	0.0034	876	c.50 others(887): Show c.5070_*5071insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACAGGACGGGG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACAGGACGGGGCA GAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGGGACACAGGACGGGGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACACGGGAC GGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3897		chr1	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(869): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATTATATATTCTCATATATATAATATATATA TTCTCATATATAATATATATTCTCATATATATAATATATACTCATATATT ATATATATTCTCATATATTATATATATACTCATATATAATGTATATATTC TAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATAT AATATATATTCTCATATATGACATATTATATATATTCTCATATATATTAT ATATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATAT AATATATTATATATTCTCATATAATATATTATATATTCTCATATAATATA TTATAAATTCTCATATAATATATTATATATTCTCATATATAATATATTAT ATATTCTCATATATAATATATTATATATGCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCAT ATATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATAT ATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	876	c.10 others(889): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGAATATATAAT ATATTATATATGAGAATATATAATATATTATATGAGAATTTATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATAATATATTATATG AGAATATATATTATATATGAGAATATATAATATATATGAGAATATATAAT ATATATGAGAATATATATAATATGTCATATATGAGAATATATATTATATA TGAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAATA TATACATTATATATGAGTATATATATAATATATGAGAATATATATAATAT ATGAGTATATATTATATATATGAGAATATATATTATATATGAGAATATAT ATATTATATATATGAGAATATATAATATATATATGAGAATATATATTATA TATATGAGTATATATAATATATATGAGAATATATATTATATGTATATAAT ATATATAATATATAATATATAATATATACATATATACATATAATATATAA ACATATAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(869): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATTATATATTCTCATATATATAATATATATA TTCTCATATATAATATATATTCTCATATATATAATATATACTCATATATT ATATATATTCTCATATATTATATATATACTCATATATAATGTATATATTC TAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATAT AATATATATTCTCATATATGACATATTATATATATTCTCATATATATTAT ATATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATAT AATATATTATATATTCTCATATAATATATTATATATTCTCATATAATATA TTATAAATTCTCATATAATATATTATATATTCTCATATATAATATATTAT ATATTCTCATATATAATATATTATATATTCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCGC ATATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCAT ATATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATAT ATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	876	c.10 others(889): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGCGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGAATATATAATATATTATATATGAGAATATATAAT ATATTATATATGAGAATATATAATATATTATATGAGAATTTATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATAATATATTATATG AGAATATATATTATATATGAGAATATATAATATATATGAGAATATATAAT ATATATGAGAATATATATAATATGTCATATATGAGAATATATATTATATA TGAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAATA TATACATTATATATGAGTATATATATAATATATGAGAATATATATAATAT ATGAGTATATATTATATATATGAGAATATATATTATATATGAGAATATAT ATATTATATATATGAGAATATATAATATATATATGAGAATATATATTATA TATATGAGTATATATAATATATATGAGAATATATATTATATGTATATAAT ATATATAATATATAATATATAATATATACATATATACATATAATATATAA ACATATAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(869): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATTATATATTCTCATATATATAATATATATA TTCTCATATATAATATATATTCTCATATATATAATATATACTCATATATT ATATATATTCTCATATATTATATATATACTCATATATAATGTATATATTC TAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATAT AATATATATTCTCATATATGACATATTATATATATTCTCATATATATTAT ATATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATAT AATATATTATATATTCTCATATAATATATTATATATTCTCATATAATATA TTATAAATTCTCATATAATATATTATATATTCTCATATATAATATATTAT ATATTCTCATATATAATATATTATATATTCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCAT ATATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATAT ATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01106.hp2 others(5): Show HG01070.hp2 HG01071.hp2 HG01106.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2 NA18977.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0021 a0001c0001t0001 a0001c0001t0009 a0001c0001t0021	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0021g0000 a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0021g0000	8	416	0.0192	876	c.10 others(889): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGAATATATAATATATTATATATGAGAATATATAAT ATATTATATATGAGAATATATAATATATTATATGAGAATTTATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATAATATATTATATG AGAATATATATTATATATGAGAATATATAATATATATGAGAATATATAAT ATATATGAGAATATATATAATATGTCATATATGAGAATATATATTATATA TGAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAATA TATACATTATATATGAGTATATATATAATATATGAGAATATATATAATAT ATGAGTATATATTATATATATGAGAATATATATTATATATGAGAATATAT ATATTATATATATGAGAATATATAATATATATATGAGAATATATATTATA TATATGAGTATATATAATATATATGAGAATATATATTATATGTATATAAT ATATATAATATATAATATATAATATATACATATATACATATAATATATAA ACATATAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(869): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATTATATATTCTCATATATATAATATATATA TTCTCATATATAATATATATTCTCATATATATAATATATACTCATATATT ATATATATTCTCATATATTATATATATACTCATATATAATGTATATATTC TAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATAT AATATATATTCTCATATATGACATATTATATATATTCTCATATATATTAT ATATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATAT AATATATTATATATTCTCATATAATATATTATATATTCTCATATAATATA TTATAAATTCTCATATAATATATTATATATTCTCATATATAATATATTAT ATATTCTCATATATAATATATTATATATTCTCATATATAATATATTATAT ATGCTCATATATAATATATTATATATGCTCATATATAATATATTATATAT GCTCATATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATGTATGCTC ATATATAATATATTATGTATGCTCATATATAATATATTATGTATGCTCAT ATATAATATATTATGTATGAGCATATATAATATATTATGTATGAGCATAT ATAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	416	0.0048	876	c.10 others(889): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGCTCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TACATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGAATATATAATATATTATATATGAGAATATATAAT ATATTATATATGAGAATATATAATATATTATATGAGAATTTATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATAATATATTATATG AGAATATATATTATATATGAGAATATATAATATATATGAGAATATATAAT ATATATGAGAATATATATAATATGTCATATATGAGAATATATATTATATA TGAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAATA TATACATTATATATGAGTATATATATAATATATGAGAATATATATAATAT ATGAGTATATATTATATATATGAGAATATATATTATATATGAGAATATAT ATATTATATATATGAGAATATATAATATATATATGAGAATATATATTATA TATATGAGTATATATAATATATATGAGAATATATATTATATGTATATAAT ATATATAATATATAATATATAATATATACATATATACATATAATATATAA ACATATAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ASAP2_chr2_9201812_9410678	9406031	G G	GTGTCACT others(869): Show GTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGG CCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCT TCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGT CTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACA TCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCT GTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGG ACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGT GTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTTGTCTTCCTCAGGCC TTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTA GGCTTCCTCAGGACTTCAATGTGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0026 a0001c0002t0003g0026	1	210	0.0048	876	c.27 others(887): Show c.2704_*2705insTGTCACTGAGTGGACCTCTGTGACATCTAGTCTT CCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGAC ATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACC TCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCC TCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTT CCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCT TGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTGAGTGGA CCTCTGTGACATCTAGGCTTCCTCAGGACTTCAATGTGTGTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		354		chr2	TogoVar
ASMTL_chrX_1398139_1457909	1447612	C C	CGCCATCT others(869): Show CGCCATCTTGGATAAGCACCACCATCTTGGAGACACACCATCTTGGACAC ACACCGCCATCTTGGAGAAGCACCACCATCTTGGACACACACCATCTTGG ACAAGCACTGCCATCTTGGACATGCATGGCCATCTTTGACACACACCACC ATCTTGGACACACACCGCCATCTTGGATAAGCACCACCATCTTGGACACA CACAGCTATCTTGGATAAGCACTACCATCTTGGACACACACCATCTGGGA CACACACTGCCATCTTGGACCCATAACACCATCTTGGACAAGCACCGCCA TCTTGGACACACCGCCATCTTGGATACACAACACCATCTTGGAAAAGCAC CACCATCTTGGACACACACCGCCATCTTGGATAAGAACCACCATCTTGGA CACACACCATCTTGGACACACACCGCCATCTTGGATAAGAACCACCATCT TGGACACACACCATCTTGGACACACACAGCCATCTTGGATAAGCACCACC ATCTTGGACACACACCATCTTGGACACACACCGCCATCTTGGATAAGCAC CACCATCTTGGACACACACCGCCATCTTGGATAAGCACCACCATCTTGGA CACACACCATCTTGGACACACACTGCCATCTTGGATAAGCACCACCATCT TGGACACACAACATCTTGGACACACACCGCCATCTTGGATAAGCACCACC ATCTTGGACACACACCATCTGGGACACACACTGCCATCTTGGACCCATAA CACCATCTTGGACAAGCACCACCATCTTGGACACACCGCCATCTTGGACA CGCCACCATCTTGGATACACACCACCATCTTGGAAAAGCACCACCATCTT GGACACACAACATCTTGGACACACACT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0122 a0001c0035t0001g0122	1	185	0.0054	876	c.93+ others(891): Show c.93+4260_93+5135dupAGTGTGTGTCCAAGATGTTGTGTGTCCAAG ATGGTGGTGCTTTTCCAAGATGGTGGTGTGTATCCAAGATGGTGGCGTGT CCAAGATGGCGGTGTGTCCAAGATGGTGGTGCTTGTCCAAGATGGTGTTA TGGGTCCAAGATGGCAGTGTGTGTCCCAGATGGTGTGTGTCCAAGATGGT GGTGCTTATCCAAGATGGCGGTGTGTGTCCAAGATGTTGTGTGTCCAAGA TGGTGGTGCTTATCCAAGATGGCAGTGTGTGTCCAAGATGGTGTGTGTCC AAGATGGTGGTGCTTATCCAAGATGGCGGTGTGTGTCCAAGATGGTGGTG CTTATCCAAGATGGCGGTGTGTGTCCAAGATGGTGTGTGTCCAAGATGGT GGTGCTTATCCAAGATGGCTGTGTGTGTCCAAGATGGTGTGTGTCCAAGA TGGTGGTTCTTATCCAAGATGGCGGTGTGTGTCCAAGATGGTGTGTGTCC AAGATGGTGGTTCTTATCCAAGATGGCGGTGTGTGTCCAAGATGGTGGTG CTTTTCCAAGATGGTGTTGTGTATCCAAGATGGCGGTGTGTCCAAGATGG CGGTGCTTGTCCAAGATGGTGTTATGGGTCCAAGATGGCAGTGTGTGTCC CAGATGGTGTGTGTCCAAGATGGTAGTGCTTATCCAAGATAGCTGTGTGT GTCCAAGATGGTGGTGCTTATCCAAGATGGCGGTGTGTGTCCAAGATGGT GGTGTGTGTCAAAGATGGCCATGCATGTCCAAGATGGCAGTGCTTGTCCA AGATGGTGTGTGTCCAAGATGGTGGTGCTTCTCCAAGATGGCGGTGTGTG TCCAAGATGGTGTGTCTCCAAGATGGTGGTGCTTATCCAAGATGGC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
CACNA1H_chr16_1148106_1226768	1185865	G G	GGCGTAGG others(869): Show GGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCG TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGT GAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTA TGGGGCGGGTGAGTAGACGGTCGGCGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG00140.hp2 HG01109.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0036 a0002c0013t0001 a0002c0013t0036	a0002c0013t0001g0176 a0002c0013t0036g0206 a0002c0013t0001g0176 a0002c0013t0036g0206	2	338	0.0059	876	c.300 others(893): Show c.300-9074_300-9073insAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC AGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGT AGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186091	A A	AGGTGAGT others(869): Show AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGC GGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGG CCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTA GGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCC GAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCC GGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0012 a0012	a0012c0036 a0012c0036	a0012c0036t0001 a0012c0036t0001	a0012c0036t0001g0035 a0012c0036t0001g0035	1	338	0.0030	876	c.300 others(893): Show c.300-8843_300-8842insACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC183_chr9_136791338_136812741	136803088	C C	CCCAGGGC others(869): Show CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0091 a0003c0003t0002g0091	1	398	0.0025	876	c.666 others(891): Show c.666+360_666+361insCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC88C_chr14_91266323_91422820	91293336	T T	TCACCTTC others(869): Show TCACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCCGTCCTCACCT GCCACGGTCCACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGT CCCCTCGCCTGCCACAGCTGACCTTCCTGTCCCCTCGCCTGCCACGGCCC ACCTTCCTGTCCCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCT GCCACAGCCCACCTTCCCGTCCTCACCTGCCACGGTCCACCTTCCCATCC TCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCAT CCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCTAC CTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCC CCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCGCCTGCCACAGCCCAC CTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACAGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0276 a0001c0004t0003g0276	1	284	0.0035	876	c.411 others(893): Show c.4112+836_4112+837insGGCTGTGGCAGGCGAGGGGGCAGGAAGG TGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGG GGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGG CAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGG TGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGG GACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGG CAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGG TAGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGA TGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAG GATGGGAAGGTGGACCGTGGCAGGTGAGGACGGGAAGGTGGGCTGTGGCA GGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTG GGCCGTGGCAGGCGAGGGGACAGGAAGGTCAGCTGTGGCAGGCGAGGGGA CAGGAAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTGGACCGTGGCA GGTGAGGACGGGAAGGTGGGCTGTGGCAGGTGAGGGGACAGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CFAP46_chr10_132803392_132947570	132822784	G G	GTGTGTGC others(869): Show GTGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGTGTGCTGATGTGTGC TGTGTGCTGTGTGTGCTGATGTGTGCTGATGTGTGCACTGTGTGCTGTGT GCGGTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGATGTGTGCTGTGT GAGTGCTGATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGTGGTGAT GTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTG TGTGTGCTGTGTGCTGTGTGTGCACTGATGTGTGCTGTGTGCTGTGAGTG CTGATGTGTGCTGTGTGTGCTGATGTGTGCTTTGTATGTGCTGATGTGTG CTGTGTGTGTGCTGATGTGTGCTCTGTGTGCTGATGTGTGCTGTGTGAGT GATGTGTGCTGTCTGTGCGCTGATGTGTGCTGATGTGTGCTGTGTGTGTG CTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGCGCTGATGTGTGC TGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGTTGTGTGTGCTGTG TGAGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGTGTGTGCTGAGTGC TGCTGTGTGCTGTGTGCTGTGTGTGCACTGATGTGTGCTGTGTGTGTGCT GTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGTTGTG TGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGTGTGC TGATGTGTGCTGTGTGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGC TGTGTGTGCAGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTG CACTTGTGTGTGCTGTGTGTGCAGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	246	0.0041	876	c.711 others(895): Show c.7118-7871_7118-7870insTCACTGCACACACAGCACACACAAGT GCACACACAGCACACATCAGCACTCACACAGCACACATCACTGCACACAC AGCACACATCAGCACACATCAGCACTCACACAGCACACACAGCACACATC AGCACACAGCACACATCAGCACACAGCACACATCAGCACTCACACAGCAC ACACAACACACATCAGCACACACAGCACACATCAGCACTCACACAGCACA CAGCACACACACAGCACACATCAGTGCACACACAGCACACAGCACACAGC AGCACTCAGCACACACAGCACACATCAGCACACAGCACACATCAGCACTC ACACAGCACACACAACACACAGCACACACAGCACACATCAGCACTCACAC AGCACACATCAGCGCTCACACAGCACACAGCACACACACAGCACACATCA GCACACACACAGCACACATCAGCACACATCAGCGCACAGACAGCACACAT CACTCACACAGCACACATCAGCACACAGAGCACACATCAGCACACACACA GCACACATCAGCACATACAAAGCACACATCAGCACACACAGCACACATCA GCACTCACAGCACACAGCACACATCAGTGCACACACAGCACACAGCACAC ACAGCACACATCAGCACACACACAGCACACATCACTGCACACACAGCACA CATCACCACACACACAGCACACAGTGCACACATCAGCACACATCAGCACT CACACAGCACACATCAGCACACATCAGCGCACACACAGCACACATCACCG CACACAGCACACAGTGCACACATCAGCACACATCAGCACACACAGCACAC AGCACACATCAGCACACACACAGCACACATCACTGCACACACAGCACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(869): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAAGGGAGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCT GGGGAGGGGGAGGAGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGG GGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGA GCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0031 a0001c0001t0019g0031	1	168	0.0060	876	c.-26 others(885): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC AGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCCAGCTCCCCC TCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCC TCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTC CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCT CCCTTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCC CCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(869): Show GGGAGGGGGGAGGAGGGGGAGCGGGGGGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGG GGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGA GGAGGGGGAGCAGGGGAGGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGGAGGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGG GGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGG AGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGG GGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGA GGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGA GCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTG GAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0023 a0001c0007t0023	a0001c0007t0023g0034 a0001c0007t0023g0034	1	168	0.0060	876	c.-26 others(885): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCC CCTCCTCCCCCCTCCCCTGCTCCCCCTCCCCCTCCCCAGCTCCCCCTCCT CCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCC CCCCTCCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCCAGCTCCCCCTCCTCCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCT GCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTC CCCCTCCTCCCCCCCCCCCGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(869): Show TCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCC TACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCA CGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCC CTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCG GTGGAACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCCTACAGTC CCCTACTCACAACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGA GTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCC CTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCTG GTGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATG ACCCCTGGAGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCT ACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCATGACCCCTGGCAGAACCGTACAGTCCCCTAC TCACAACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGT CCCCTACTCACGACCCCTACAGTCTCCTACTGATGACCCCTGGAGTAACC CTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTC ACAACCCCCGGTGGAACCCTACAGTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01496.hp2 others(2): Show HG01123.hp2 HG01175.hp2 HG01496.hp2 HG03927.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0002g0036 a0001c0001t0003g0090 a0001c0001t0004g0049 others(2): Show a0001c0001t0002g0036 a0001c0001t0003g0090 a0001c0001t0004g0049 a0001c0001t0004g0072 a0001c0002t0003g0122	5	159	0.0315	876	c.811 others(893): Show c.811-1792_811-1791insCCTGGCGGAACCCTACAGTCCCCTACTC ACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCAC AACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACC CTACAGTCCCCTACTCACAACCCCTACACTCTCCTACCCATGACCCCTGG CAGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGA CCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCT ACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCAT GACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCC TACTCATGACCCCTGGAGGAACCCTACAGTCCCCTACTCACGACCCCTAC ACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGA CCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTA CTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCGTACAG TCCCCTACTCACAACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAAC CCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTGATGACCCCTG GAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATC CCCTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CUX2_chr12_111029165_111355554	111326140	T T	TGGGGGAG others(869): Show TGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGG TTTTGTTTATAGTGTGTTGGGGGAGGGGGTTTTGTTTATAGTGTTGTGGT GGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGTGGTGGGT TTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTG ATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTT TTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGA TGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTT TGTTTATAGTGTTGTGGTGGGGGATGGGTGGGTTTTGTTTATAGTGTTGT GATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGT TTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTT GTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGG GTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGT GTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGT TTGTTTATAGTGTTGGGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTG GGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGG TTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGT TGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGTTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp2 HG01891.hp1 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0002 a0001c0009t0001 a0001c0008t0002 a0001c0009t0001	a0001c0008t0002g0022 a0001c0009t0001g0035 a0001c0008t0002g0022 a0001c0009t0001g0035	2	100	0.0200	876	c.292 others(895): Show c.2926+3564_2926+3565insGAGGGGTGGGTTTTGTTTATAGTGTT GTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGGTT TTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTG TGGTGGGGGAGTGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGT GGGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGT GTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTG GGTTTTGTTTATAGTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTG TTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGATGGGTGG GTTTTGTTTATAGTGTTGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTG TGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGT TGTGATGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTG GGTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTG TTGTGGGGGAGGGGTGGGTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTT GGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGT GTTGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATA GTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGG	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DLEC1_chr3_38034208_38129025	38084557	A A	AGTGGTAA others(869): Show AGTGGTAATAGTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAG TAGTGGTAGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTA GTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGT GGTGGTAGTAGTAGTGGTTGTGGTAGTAGTAGTGGTTGTGGTAGTAGTAG TGGTAGTAGTAGTGGTGGTGGTGGTAGTGGTGGTAGTAGTGGTAATAGTG GTGGTGGTAGTAGTAGTAGTGGTTGTGGTGGTAGTAGTGGTAGTAGTGGT GGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGG TAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTA GTAGTAGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAGTAGTGGT GGTGGTAGTAGTGGTGGTAGTAGTGGTAATAGTAGTAGTGGTGGTGGTGG TAGTAGTAGTGGTAGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTG GTGGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTGGTGGTGGTGGT AGTAGTAGTGGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTAGTAGTAG TAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAGTAGTAGTGGTGGTG GTAGTAGTAGTGGTTGTGGTAGTAGTGGTAGTAGTAGTGGTGGTGGTAGT AGTAGTAGTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGG TGGTGGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTGGTG GTAGTAGCAGTGATAGTAATAGTAGTG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0001 a0001c0041t0001	a0001c0041t0001g0278 a0001c0041t0001g0278	1	298	0.0034	876	c.126 others(893): Show c.1261+314_1261+315insGGTAATAGTAGTAGTGGTGGTGGTGGTA GTAGTAGTGGTAGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTGGT GGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTGGTAGTAGTAGTAGTAG TGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTAGTGGTTGTGGTAGTAGTA GTGGTTGTGGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGTGGTAGTGGT GGTAGTAGTGGTAATAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTGG TAGTAGTGGTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTA GTAGTGGTGGTAGTAGTGGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGT GGTGGTAGTAGTGGTGGTAGTAGTAGTGGTAGTAGTAGTGGTGGTGGTAG TAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTGGTAATA GTAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTAGTAGTAGTAGTAGTAGT AGTGGTGGTGGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGTAGTGG TAGTAGTGGTGGTGGTGGTAGTAGTAGTGGTGGTTGTGGTAGTAGTAGTG GTAGTAGTAGTAGTAGTAGTAGTGGTGGTGGTAGTAGTGGTGGTAGTAGT GGTAGTAGTAGTGGTGGTGGTAGTAGTAGTGGTTGTGGTAGTAGTGGTAG TAGTAGTGGTGGTGGTAGTAGTAGTAGTGGTTGTGGTAGTAGTAGTGGTA GTAGTAGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTAGTAGTAGT GGTGGTGGTAGTAGTGGTGGTAGTAGCAGTGATAGTAATAGTAGTGGT	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89634611	C C	CCCTTCCT others(869): Show CCCTTCCTTCCTTCCCTTCCTTCTCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCCTTCCCTTCCTTTCCTTTCCCTTCCTTCCTTCCTTCCT TCCTTTCCCTTTCCCTTCCTTCCTTCCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCTTCCTTCTCCTTCCTTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTCTCCTTCCTCTCCCTTTCCTTCTTCCTTTCCCTT CCTTCCTCCTTCCCTTCCTTCCCTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCT TCCTTCCTTTCCCTTTCCCTTCCTTCCTTTCCTTCCTTCCCTTCCTTCCT TCCTTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCTCCTTTCCTTCCCTTCCCTTCTTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTTCCTTTCCCTTCCTTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTCCCTTCCTTC CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	250	0.0040	876	c.105 others(893): Show c.105-1295_105-1294insTTCCTTCCTTCCCTTCCTTCTCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCCTTCCCTTCCTTTCCTTTC CCTTCCTTCCTTCCTTCCTTCCTTTCCCTTTCCCTTCCTTCCTTCCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTCCTTCTCCTTCCTTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTCTCCTTCCTCTCCCT TTCCTTCTTCCTTTCCCTTCCTTCCTCCTTCCCTTCCTTCCCTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTCCTTCTCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCCTTTCCCTTTCCCTTCCTTCCTTTC CTTCCTTCCCTTCCTTCCTTCCTTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCTTCCCTTCCCTTCTTCCTT TCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTTCCTTTCCCTTCC TTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EML1_chr14_99788413_99947060	99927949	T T	TGGTGGTG others(869): Show TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GAGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0123 a0001c0004t0001g0123	1	288	0.0035	876	c.190 others(895): Show c.1909+7077_1909+7078insTGATGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD3_chr9_137301896_137428162	137379233	T T	TGCCTGGG others(869): Show TGCCTGGGGCCGAGGGGAATGGGGCGTCTGTGTGAGGGGTACGGGGTTCG TGGGTGACAGTGACCGTTGCCTGGGGCCGAGGGGAATGGGGGCGTCTGTG TGAGGGGTACGGGGTTTGTGGGTGACAGTGACCGTTGCCTGGGGCCGAGG GGAATGGGGCCGTCTGTGTGAGGGGTACGGGGTTTGTGGGTGACGGTGAC CATTGCCTGGGGCTGAGGGGAATGGGGCGTCTGTTTGAGGGGTACGGGGT TTGTGGGTGACGGCGACTGGGGCCTGGGGCCGAGGGGAATAGGGGCGTCT GTGTGAGGGGTACGGGGTTTGTGGGTGACGGTGACCGTTGCCTGGGGCCG AGGGGAATGGGGGCGTCTGTGTGAGGGGTACAGGGTTTGTGGGTGATGGT GACCGTTGCCTGGGGCCGAGGGGAATGGGGCATCTGTGTGAGGGGTACAG GGTTTGTGGGTGACGGTGACCGTTGCCTGGGGCCGAGGGGAATGGGGCAT CTGTGTGAGGGGTACGGGGTTTGTGGGTGACGGCGACCGGGGCCTGGGGC CGAGGGGAATGGGGCGTCTGTGTGAGGGGTACGGGGTTTGTGGGTGACGG GGACTGTTGCCTGGGGCCGAGGGGAATGGGGCGTCTGTGTGATGGGTACA GGGTTTGTGGGTGACGGCGACTGGGGCCTGGGGCCGAGGGGAATGGGGCG TCTGTGTGATGGGTACGGGGTTTGTGGGTGACGGCGACTGGGGCCTGGGG CCGAGGGGAATGGGGGCGTCTGTGTGAGGGGTACGGGGTTTGTGGGTGAC GGGGACTGTTGCCTGGGGCCGAGGGGAATGGGGCGTCTGTGTGATGGGTA CAGGGTTTGTGGGTGACGGCGACTGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0029 a0005c0018t0001g0029	1	82	0.0122	876	c.120 others(893): Show c.120+4079_120+4080insCCCAGTCGCCGTCACCCACAAACCCTGT ACCCATCACACAGACGCCCCATTCCCCTCGGCCCCAGGCAACAGTCCCCG TCACCCACAAACCCCGTACCCCTCACACAGACGCCCCCATTCCCCTCGGC CCCAGGCCCCAGTCGCCGTCACCCACAAACCCCGTACCCATCACACAGAC GCCCCATTCCCCTCGGCCCCAGGCCCCAGTCGCCGTCACCCACAAACCCT GTACCCATCACACAGACGCCCCATTCCCCTCGGCCCCAGGCAACAGTCCC CGTCACCCACAAACCCCGTACCCCTCACACAGACGCCCCATTCCCCTCGG CCCCAGGCCCCGGTCGCCGTCACCCACAAACCCCGTACCCCTCACACAGA TGCCCCATTCCCCTCGGCCCCAGGCAACGGTCACCGTCACCCACAAACCC TGTACCCCTCACACAGATGCCCCATTCCCCTCGGCCCCAGGCAACGGTCA CCATCACCCACAAACCCTGTACCCCTCACACAGACGCCCCCATTCCCCTC GGCCCCAGGCAACGGTCACCGTCACCCACAAACCCCGTACCCCTCACACA GACGCCCCTATTCCCCTCGGCCCCAGGCCCCAGTCGCCGTCACCCACAAA CCCCGTACCCCTCAAACAGACGCCCCATTCCCCTCAGCCCCAGGCAATGG TCACCGTCACCCACAAACCCCGTACCCCTCACACAGACGGCCCCATTCCC CTCGGCCCCAGGCAACGGTCACTGTCACCCACAAACCCCGTACCCCTCAC ACAGACGCCCCCATTCCCCTCGGCCCCAGGCAACGGTCACTGTCACCCAC GAACCCCGTACCCCTCACACAGACGCCCCATTCCCCTCGGCCCCAGGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21			chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322412	G G	GGAATATA others(869): Show GGAATATATATATGCAGTATATATATATGAATATATATATGGAATATATA TGGAATATATATATGGAATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATATGTGGAATATATATATGGAATATATATATATGT GGAATATATATATGGAATATATATATGGAATATATACATGGAATATATGT ATATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAAT ATGTGTATATGGAATATATACATGGAATATGTGTATATGGAATATATACA TGGAATATATATATGGAATATATACATGGAATATATATATGGAATATATA CATGGAATATATATATATGGAATATATACATGGAATATATATATATGGAA TATATACATGGAATATATATATATGGAATATATACATGGAATATATATAT ATAGAATATATACATGGAATATATATATGGAATATATACATGGAATATAT ATATATGGAATATATACATGGAATATATACATGGAATATATACATGGAAC ATATACATGGAATATATACATGGAACATATACATGGAATATATATATATG GAACATATACGGAATATATATATGGAATATATATACGGAATATATATATA TGGAATATATATACGGAATATATATATGGAATATATATACGGAATATATA TATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAA TATATATATGGAATATATATATGGAATATGTATATGGAATATATATATAT GGAATATGTATATGGAATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0030 a0002c0002t0002g0030	1	323	0.0031	876	c.-26 others(887): Show c.-2644_-2643insGAATATATATATGCAGTATATATATATGAATATA TATATGGAATATATATGGAATATATATATGGAATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGAATATATATATATGTGGAATATATATATGG AATATATATATATGTGGAATATATATATGGAATATATATATGGAATATAT ACATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGA ATATATACATGGAATATGTGTATATGGAATATATACATGGAATATGTGTA TATGGAATATATACATGGAATATATATATGGAATATATACATGGAATATA TATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAA TATATATATATGGAATATATACATGGAATATATATATATGGAATATATAC ATGGAATATATATATATAGAATATATACATGGAATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATACATGGAATATATACATGGA ATATATACATGGAACATATACATGGAATATATACATGGAACATATACATG GAATATATATATATGGAACATATACGGAATATATATATGGAATATATATA CGGAATATATATATATGGAATATATATACGGAATATATATATGGAATATA TATACGGAATATATATATATGGAATATATATACGGAATATATATATATGG AATATATATACGGAATATATATATGGAATATATATATGGAATATGTATAT GGAATATATATATATGGAATATGTATATGGAATATATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2557		chr21	TogoVar
JAM3_chr11_134064072_134157001	134138396	C C	CGTCAAAG others(869): Show CGTCAAAGTCGTGGTGCTCATGCTGAGAGAAATGTTTATGGCCAGTAGTC CCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAG AGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTC AAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTT AGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAA ATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAG TCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAG CCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAGAGAAATGT TTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGT GGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAG TGGTGGCGTCTCGTCTAAGTCATGGTGCTCATACTGAGAGAAATGTTTAT GGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCTAAGTCGTGGTG CTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGT GGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCC AGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCA TACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCG TCTCGTCGAAGTCGTAGTGCTCATACTGAGAGAAATGTTTATGGCCAATA GTCCCTTAGAGCCAGTGGTAGCGTCTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02572.hp1 others(2): Show HG02055.hp1 HG02145.hp2 HG02572.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0260 a0001c0001t0014g0261 a0001c0001t0014g0262 others(2): Show a0001c0001t0014g0260 a0001c0001t0014g0261 a0001c0001t0014g0262 a0001c0001t0014g0263 a0001c0001t0014g0264	5	390	0.0128	876	c.77- others(891): Show c.77-1452_77-1451insAAAGTCGTGGTGCTCATGCTGAGAGAAATG TTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCG TGGTGCTCATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCA GTGGTGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTA TGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCAAAGTCGTGGT GCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGG TGGCGTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGC CAATAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTC ATACTGAGAGAAATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTGGC GTCTCGTCAAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAAT AGTCCCTTAGAGCCAGTGGTGGCGTCTCGTCTAAGTCATGGTGCTCATAC TGAGAGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCT CGTCTAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTC CCTTAGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTGGTGCTCATACTGAG AGAAATGTTTATGGCCAGTAGTCCCTTAGAGCCAGTGGTGGCGTCTCGTC GAAGTCGTGGTGCTCATACTGAGAGAAATGTTTATGGCCAGTAGTCCCTT AGAGCCAGTGGTGGCGTCTCGTCGAAGTCGTAGTGCTCATACTGAGAGAA ATGTTTATGGCCAATAGTCCCTTAGAGCCAGTGGTAGCGTCTGGTC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(869): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCC CCACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCCACAGCCAC CCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAG CCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCC CCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	312	0.0032	876	c.-41 others(891): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCCACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCCACAGCCA CCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACA GCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCC CCACAGCCGCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCC CCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA5_chr20_62304065_62372312	62360519	G G	GTGGAGGG others(869): Show GTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGT GGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTGG GTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGG GTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGAT GGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGG GTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGGT GGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGG GTGGGTGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGAT GGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAG ATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAG GAATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGATGGGTGG GTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGGTGGGTGGAGGGAT AGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAG GGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGG GTGGATGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATA GATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGATGGGTGGGTAGAA GGATAGGTAGGTGGGTGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0129 a0003c0129	a0003c0129t0001 a0003c0129t0001	a0003c0129t0001g0067 a0003c0129t0001g0067	1	186	0.0054	876	c.450 others(893): Show c.450+1880_450+1881insTCCACCCACCCACCCACCTACCTATCCT TCTACCCACCCATCCACCCATCTATCCCTCCACCCACCCACCACCCATCT ATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCATCCACC CACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCCATCTATCCC TCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCACCCATCTA TCCCTCCACCCACCCATCCACCCACCCACCCACCTACCTATCCTTCTACC CACCCATCCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTATTCC TCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATC TATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCACCCA TCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCACCCACC CATCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCA CCCACCCATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACC CACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCA TCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCACC CATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCACCCA CCCATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACC CACCCACCCATCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCA CCCACCCACCTACCTATCCTTCTACCCACCCACCCATCTATCCCTCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LARS1_chr5_146108034_146187650	146174615	A A	ATATATAT others(869): Show ATATATATCCATATATATATATATCCATATATATATATATCCATATATAT ATATCCATATATATATATCCATATAATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATCCATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0257 a0002c0002t0002g0257	1	284	0.0035	876	c.126 others(893): Show c.126-1842_126-1841insATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATGGATATATATATGG ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATATATGGATATATATAT GGATATATATATATATGGATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATTATATGGATATATATATATGGATATA TATATATGGATATATATATATATGGATATATATATATATGGATATATA	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(869): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGT CATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATA GTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATA GTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGT TATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTA TGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACA CAGTTATGTATGTATGTAAAACTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG01891.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	2	422	0.0047	876	c.-29 others(887): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATATGT ATATAAAACTATAGTCATATATGTATATAAAACTATATATAGTCATATAT GTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTC ATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATACAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATAT AAAACTATATATAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATATAGTCATATATGTATATAAAACTATATAGTTATATAT GTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGT ATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAT GTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAA CTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAA AACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGT ATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(869): Show TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACC CTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACC TCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATC TACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCA CACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTCACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCA CCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACT CATGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACCCTTACATCTACCTCCACACCCACACTTACACTCATGCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0227 a0001c0002t0004g0227	1	290	0.0035	876	c.129 others(895): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTT ACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1930159	C C	CCCCACTG others(869): Show CCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGC CCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCC CTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACG TCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTG CCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCC CACTGCCACAACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCG TCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGC CCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCC CTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCAC AACCCACCACCACGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCGCTG CCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCCTCGCCCCGTCCC CGCTGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCCTC GCCCCGTCCCCACTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTC CCCCTCGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCC ACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCA CCGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCATC CCCCACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	264	0.0038	876	c.180 others(895): Show c.1807+6527_1807+6528insACGGGGCGAGGGGACGTGGCAGTGGG GGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCG GTGGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACG TGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGGGACGGGG CGAGGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGC GGGGACGGGGCGAGGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTG GCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGT TGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGA GGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGG GGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGG ACGGGGCGAGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGT GGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTG GCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGG ACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGA GGGGGACGTGGCAGTGTGGACGTGGTGGTGGGTTGTGGCAGTGGGGACGG GGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(869): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC CTCCCCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTC TCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTC CCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTC CCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCT TCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTC TCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCC TCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCTCCTCCCCTCCCTCTCCTCCGCTCCCCTCCCCTCTCCTC CACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTC CACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTC CCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTC CCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	318	0.0031	876	c.-49 others(887): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGAGA GGGGAGGGGAGCGGAGGAGAGGGAGGGGAGGAGAGAGGAGGGGAGGAGAG GGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAG GGGAGGAGAGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGC GGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGC GGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGG GGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGA GGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGA GAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGA GCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGA GAGAGGAGGGGAGGGGAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAG AGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(869): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCTCTCTCTCCTCCCC TCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCTCCTCCCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCTCCTCTCTCCTCCCC TCCCCTCCCCTCTCCTCCCCTCCCCTCCCTCTCTCCTCCGCTCCGCTCCC CTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCTCCTCTCCCC TCCCTTCCCCTCTCCTCCCTCCCTCCCCTCCTCTCTCCTCCCCTCTCCCT CCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCTCCCT TCCCCTCTCCTCCCCTCCTCTCTTCCTCCCCTCCCCTCTCCTCCGCTCCT CTCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCT CCCCTCTCCTCCGCTCCTCTCCCCTCCTTCCCCTCTCCTCCCCTCCTCTC TCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTC CCCTCCTCTCTCCTCCCCTCCCCCTCTCCTCCGCTCCCCTCCCCTCTCCT CCACTCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTC CACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCCTCCCCTCTCCTCCCCT CCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCTC CCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	318	0.0031	876	c.-49 others(887): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGAG CCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGAG GAGAGGGGAGGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGAGTGGAGGAGAG GGGAGGGGAGCGGAGGAGAGGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAG CGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGAGAGGAGCG GAGGAGAGGGGAGGGGAGGAAGAGAGGAGGGGAGGAGAGGGGAAGGGAGG GAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGAGA GGGGAGGAGAGAGGAGGGGAGGGAGGGAGGAGAGGGGAAGGGAGGGGAGA GGAGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCG GAGCGGAGGAGAGAGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGG AGAGAGGAGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGG GAGGAGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGG AGGAGAGAGGGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGA GGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGG AGAGAGAGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar

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