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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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
DGKB_chr7_14140049_14907751	14635300	A A	AGGGAGCT others(915): Show AGGGAGCTTAGGCTCTATCCATCCTCTCTCCCTCAATATGTGTCTATGTG TGTGTCTGGAAAGGAAATGCAACTGAAATTTCAGGAAAGGGTACCTAGTG CAATGGATGTTTAAAAACTTAAAAGATATCAAATGTTTTCAATAAAATGT AAAGAATTTATCTTTATACAGATATCCAAATCATCTCAAACATGGATTTC TAAATATAAAAGCAATCAGCAAGAACAACTAAAACAATTTTAGCATTTTT GGCTTGCCTACTTGATTAGCTAGCAAAAGATGCCATTAGAAATGAGTAAC ACCCTCTACTTAGCTAGGTCTCATAAAATCATTAGAAGTAAATATCATTA AAGAGGTGTTCTTCAATTTAAGTCGTGACCTGCCATAAGAATATTTGAAT ATTTACACACTTGTAAAATAATTTTACAATGACTACCCATTCTTTTGACC CCACTCTCTGGTATATTCTACTCTTTTTACTCTTCACGTCTATTTTTCTC TAGTCTCTCTATTGTTTTTCTTTCCATTCCTTTTCTGAAAGTCTGGTCTA GGTTCCTTAAATTTATTTCAAGCATTATTAATTGTTGGGGACTGCAGCAT GAACATAAAAACTGCTTTAAAATACAGGGTATTGAGTAAAGCAACTATTG CTTCTGCCACTTGCAAGGTTTTAGGTAATTTTCTTAATCTCCCTAAACTT CACATTCCTCAAATGTTCACCGGGCATCATAATTATACCTACCTGTAGGA TTAAAAGGATAATGTGTGACACATTTAAGTTCTCAATAAATGGTTAACTG TTTTATTAACATTAGAACCAAAATGATTCCCTTAGTTTTCACTGCATGCT TAAGAACTCAGCAAGAAATGATGGGTTATACTTTCTTCATCTGAACATTT TTTTTTGTTGCTAATAAGTGGAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0112 a0001c0004t0002g0112	1	148	0.0068	922	c.113 others(941): Show c.1135-5033_1135-5032insATCCACTTATTAGCAACAAAAAAAAA TGTTCAGATGAAGAAAGTATAACCCATCATTTCTTGCTGAGTTCTTAAGC ATGCAGTGAAAACTAAGGGAATCATTTTGGTTCTAATGTTAATAAAACAG TTAACCATTTATTGAGAACTTAAATGTGTCACACATTATCCTTTTAATCC TACAGGTAGGTATAATTATGATGCCCGGTGAACATTTGAGGAATGTGAAG TTTAGGGAGATTAAGAAAATTACCTAAAACCTTGCAAGTGGCAGAAGCAA TAGTTGCTTTACTCAATACCCTGTATTTTAAAGCAGTTTTTATGTTCATG CTGCAGTCCCCAACAATTAATAATGCTTGAAATAAATTTAAGGAACCTAG ACCAGACTTTCAGAAAAGGAATGGAAAGAAAAACAATAGAGAGACTAGAG AAAAATAGACGTGAAGAGTAAAAAGAGTAGAATATACCAGAGAGTGGGGT CAAAAGAATGGGTAGTCATTGTAAAATTATTTTACAAGTGTGTAAATATT CAAATATTCTTATGGCAGGTCACGACTTAAATTGAAGAACACCTCTTTAA TGATATTTACTTCTAATGATTTTATGAGACCTAGCTAAGTAGAGGGTGTT ACTCATTTCTAATGGCATCTTTTGCTAGCTAATCAAGTAGGCAAGCCAAA AATGCTAAAATTGTTTTAGTTGTTCTTGCTGATTGCTTTTATATTTAGAA ATCCATGTTTGAGATGATTTGGATATCTGTATAAAGATAAATTCTTTACA TTTTATTGAAAACATTTGATATCTTTTAAGTTTTTAAACATCCATTGCAC TAGGTACCCTTTCCTGAAATTTCAGTTGCATTTCCTTTCCAGACACACAC ATAGACACATATTGAGGGAGAGAGGATGGATAGAGCCTAAGCTCCC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	13/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14635300	A A	AGGGAGCT others(915): Show AGGGAGCTTAGGCTCTATCCATCCTCTCTCCCTCAATATGTGTCTATGTG TGTGTCTGGAAAGGAAATGCAACTGAAATTTCAGGAAAGGGTACCTAGTG CAATGGATGTTTAAAAACTTAAAAGATATCAAATGTTTTCAATAAAATGT AAAGAATTTATCTTTATACAGATATCCAAATCATCTCAAACATGGATTTC TAAATATAAAAGCAATCAGCAAGAACAACTAAAACAATTTTAGCATTTTT GGCTTGCCTACTTGATTAGCTAGCAAAAGATGCCATTAGAAATGAGTAAC ACCCTCTACTTAGCTAGGTCTCATAAAATCATTAGAAGTAAATATCGTTA AAGAGGTGTTCTTCAATTTAAGTCGTGACCTGCCATAAGAATATTTGAAT ATTTACACACTTGTAAAATAATTTTACAATGACTACCCATTCTTTTGACC CCACTCTCTGGTATATTCTACTCTTTTTACTCTTCACGTCTATTTTTCTC TAGTCTCTCTATTGTTTTTCTTTCCATTCCTTTTCTGAAAGTCTGGTCTA GGTTCCTTAAATTTATTTCAAGCATTATTAATTGTTGGGGACTGCAGCAT GAACATAAAAACTGCTTTAAAATACAGGGTATTGAGTAAAGCAACTATTG CTTCTGCCACTTGCAAGGTTTTAGGTAATTTTCTTAATCTCCCTAAACTT CACATTCCTCAAATGTTCACCGGGCATCATAATTATACCTACCTGTAGGA TTAAAAGGATAATGTGTGACACATTTAAGTTCTCAATAAATGGTTAACTG TTTTATTAACATTAGAACCAAAATGATTCCCTTAGTTTTCACTGCATGCT TAAGAACTCAGCAAGAAATGATGGGTTATACTTTCTTCATCTGAACATTT TTTTTTGTTGCTAATAAGTGGAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp1 others(36): Show HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01515.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG03942.hp1 HG06807.hp2 NA18612.hp1 NA18968.hp2 NA18988.hp2 NA18993.hp2 NA19057.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0013 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0039 a0001c0001t0041 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0013 a0001c0003t0014 a0001c0003t0037 a0001c0004t0001 a0001c0004t0004 a0001c0008t0003 a0001c0013t0017 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0047 others(36): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0140 a0001c0001t0002g0036 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0039g0022 a0001c0001t0041g0147 a0001c0002t0001g0053 a0001c0002t0004g0088 a0001c0002t0009g0064 a0001c0002t0022g0013 a0001c0002t0040g0068 a0001c0003t0001g0006 a0001c0003t0001g0136 a0001c0003t0002g0063 a0001c0003t0002g0116 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0037g0005 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0008t0003g0077 a0001c0013t0017g0084 a0002c0007t0006g0030 a0002c0007t0006g0041 a0004c0011t0002g0110	39	148	0.2635	922	c.113 others(941): Show c.1135-5033_1135-5032insATCCACTTATTAGCAACAAAAAAAAA TGTTCAGATGAAGAAAGTATAACCCATCATTTCTTGCTGAGTTCTTAAGC ATGCAGTGAAAACTAAGGGAATCATTTTGGTTCTAATGTTAATAAAACAG TTAACCATTTATTGAGAACTTAAATGTGTCACACATTATCCTTTTAATCC TACAGGTAGGTATAATTATGATGCCCGGTGAACATTTGAGGAATGTGAAG TTTAGGGAGATTAAGAAAATTACCTAAAACCTTGCAAGTGGCAGAAGCAA TAGTTGCTTTACTCAATACCCTGTATTTTAAAGCAGTTTTTATGTTCATG CTGCAGTCCCCAACAATTAATAATGCTTGAAATAAATTTAAGGAACCTAG ACCAGACTTTCAGAAAAGGAATGGAAAGAAAAACAATAGAGAGACTAGAG AAAAATAGACGTGAAGAGTAAAAAGAGTAGAATATACCAGAGAGTGGGGT CAAAAGAATGGGTAGTCATTGTAAAATTATTTTACAAGTGTGTAAATATT CAAATATTCTTATGGCAGGTCACGACTTAAATTGAAGAACACCTCTTTAA CGATATTTACTTCTAATGATTTTATGAGACCTAGCTAAGTAGAGGGTGTT ACTCATTTCTAATGGCATCTTTTGCTAGCTAATCAAGTAGGCAAGCCAAA AATGCTAAAATTGTTTTAGTTGTTCTTGCTGATTGCTTTTATATTTAGAA ATCCATGTTTGAGATGATTTGGATATCTGTATAAAGATAAATTCTTTACA TTTTATTGAAAACATTTGATATCTTTTAAGTTTTTAAACATCCATTGCAC TAGGTACCCTTTCCTGAAATTTCAGTTGCATTTCCTTTCCAGACACACAC ATAGACACATATTGAGGGAGAGAGGATGGATAGAGCCTAAGCTCCC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	13/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14635300	A A	AGGGAGCT others(915): Show AGGGAGCTTAGGCTCTATCCATCCTCTCTCCCTCAATATGTGTCTATGTG TGTGTCTGGAAAGGAAATGCAACTGAAATTTCAGGAAAGGGTACCTAGTG CAATGGATGTTTAAGAACTTAAAAGATATCAAATGTTTTCAATAAAATGT AAAGAATTTATCTTTATACAGATATCCAAATCATCTCAAACATGGATTTC TAAATATAAAAGCAATCAGCAAGAACAACTAAAACAATTTTAGCATTTTT GGCTTGCCTACTTGATTAGCTAGCAAAAGATGCCATTAGAAATGAGTAAC ACCCTCTACTTAGCTAGGTCTCATAAAATCATTAGAAGTAAATATCGTTA AAGAGGTGTTCTTCAATTTAAGTCGTGACCTGCCATAAGAATATTTGAAT ATTTACACACTTGTAAAATAATTTTACAATGACTACCCATTCTTTTGACC CCACTCTCTGGTATATTCTACTCTTTTTACTCTTCACGTCTATTTTTCTC TAGTCTCTCTATTGTTTTTCTTTCCATTCCTTTTCTGAAAGTCTGGTCTA GGTTCCTTAAATTTATTTCAAGCATTATTAATTGTTGGGGACTGCAGCAT GAACATAAAAACTGCTTTAAAATACAGGGTATTGAGTAAAGCAACTATTG CTTCTGCCACTTGCAAGGTTTTAGGTAATTTTCTTAATCTCCCTAAACTT CACATTCCTCAAATGTTCACCGGGCATCATAATTATACCTACCTGTAGGA TTAAAAGGATAATGTGTGACACATTTAAGTTCTCAATAAATGGTTAACTG TTTTATTAACATTAGAACCAAAATGATTCCCTTAGTTTTCACTGCATGCT TAAGAACTCAGCAAGAAATGATGGGTTATACTTTCTTCATCTGAACATTT TTTTTTGTTGCTAATAAGTGGAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0029 a0001c0001t0021g0029	1	148	0.0068	922	c.113 others(941): Show c.1135-5033_1135-5032insATCCACTTATTAGCAACAAAAAAAAA TGTTCAGATGAAGAAAGTATAACCCATCATTTCTTGCTGAGTTCTTAAGC ATGCAGTGAAAACTAAGGGAATCATTTTGGTTCTAATGTTAATAAAACAG TTAACCATTTATTGAGAACTTAAATGTGTCACACATTATCCTTTTAATCC TACAGGTAGGTATAATTATGATGCCCGGTGAACATTTGAGGAATGTGAAG TTTAGGGAGATTAAGAAAATTACCTAAAACCTTGCAAGTGGCAGAAGCAA TAGTTGCTTTACTCAATACCCTGTATTTTAAAGCAGTTTTTATGTTCATG CTGCAGTCCCCAACAATTAATAATGCTTGAAATAAATTTAAGGAACCTAG ACCAGACTTTCAGAAAAGGAATGGAAAGAAAAACAATAGAGAGACTAGAG AAAAATAGACGTGAAGAGTAAAAAGAGTAGAATATACCAGAGAGTGGGGT CAAAAGAATGGGTAGTCATTGTAAAATTATTTTACAAGTGTGTAAATATT CAAATATTCTTATGGCAGGTCACGACTTAAATTGAAGAACACCTCTTTAA CGATATTTACTTCTAATGATTTTATGAGACCTAGCTAAGTAGAGGGTGTT ACTCATTTCTAATGGCATCTTTTGCTAGCTAATCAAGTAGGCAAGCCAAA AATGCTAAAATTGTTTTAGTTGTTCTTGCTGATTGCTTTTATATTTAGAA ATCCATGTTTGAGATGATTTGGATATCTGTATAAAGATAAATTCTTTACA TTTTATTGAAAACATTTGATATCTTTTAAGTTCTTAAACATCCATTGCAC TAGGTACCCTTTCCTGAAATTTCAGTTGCATTTCCTTTCCAGACACACAC ATAGACACATATTGAGGGAGAGAGGATGGATAGAGCCTAAGCTCCC	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	13/25			chr7	TogoVar
EXD3_chr9_137301896_137428162	137327999	T T	TAAAAACA others(915): Show TAAAAACAACTAATATACACCCATATGATGAGTAAAACAACTAATATACT CCCATATGATGAGTAAAAACAACTAATATATACCCACATGATGAGTAAAA CAACTAATATACTCCCATATGATGAGTAAAACAACTAATATACTCCCATA AGATGAGTAAAAACAACAAATATACACCAACATGATGAGTAAAAAAAACG AATATACACCCACATGATGAGTGAAAACAAAAAATATACACCCCCATGAT GAGTAAAAACAACTAATATACACCCATATGATGAGTAAAAACAATGAATA TACAGACACATGGTGAGTAAAACAACTAATATACACCCATATGATGAGTA AAAACAACTAATAAACACCCACATGATGAGTAAAAACAACGAATAAACAA CCACATGATGAGTAAAAACAACTAATAAACACCCATATGATGAGTAAAAA CAACGAATAAACACCCATATGATGAGTAAAACAACTAATATACTCCCATA TGATGAGTAAAAACATCGAATAAACACCCATATGATGAGTAAAACAACTA ATATACTCCCATATGATGAGTAAAACAATTAATATACTCCCATATGATGA GTAAAAACAACAAATATACACCCACATGATGAGTAAAAACAACTAATATA CACCTACATGATGAGTAAAAACAATGAACAAACACCCACATGATGAGTAA AAACAACTAATATAAACCCACATCATGAGTAAAAACAACTAATATACTCC CATATGATGAGTAAAAACAACTAATATACACCCACATGATGAGTAAAAAC AACGAATAAACACCCACATGATGAGTAAAAACAACGAATATACACCCACA TGATGAGTAAAAACAACAAATAAACACCCACATGATGAGTAAAAACAACT AATATACTCCCACATGATGAGTA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0033 a0016c0026t0001g0033	1	82	0.0122	922	c.199 others(941): Show c.1999-3857_1999-3856insTACTCATCATGTGGGAGTATATTAGT TGTTTTTACTCATCATGTGGGTGTTTATTTGTTGTTTTTACTCATCATGT GGGTGTATATTCGTTGTTTTTACTCATCATGTGGGTGTTTATTCGTTGTT TTTACTCATCATGTGGGTGTATATTAGTTGTTTTTACTCATCATATGGGA GTATATTAGTTGTTTTTACTCATGATGTGGGTTTATATTAGTTGTTTTTA CTCATCATGTGGGTGTTTGTTCATTGTTTTTACTCATCATGTAGGTGTAT ATTAGTTGTTTTTACTCATCATGTGGGTGTATATTTGTTGTTTTTACTCA TCATATGGGAGTATATTAATTGTTTTACTCATCATATGGGAGTATATTAG TTGTTTTACTCATCATATGGGTGTTTATTCGATGTTTTTACTCATCATAT GGGAGTATATTAGTTGTTTTACTCATCATATGGGTGTTTATTCGTTGTTT TTACTCATCATATGGGTGTTTATTAGTTGTTTTTACTCATCATGTGGTTG TTTATTCGTTGTTTTTACTCATCATGTGGGTGTTTATTAGTTGTTTTTAC TCATCATATGGGTGTATATTAGTTGTTTTACTCACCATGTGTCTGTATAT TCATTGTTTTTACTCATCATATGGGTGTATATTAGTTGTTTTTACTCATC ATGGGGGTGTATATTTTTTGTTTTCACTCATCATGTGGGTGTATATTCGT TTTTTTTACTCATCATGTTGGTGTATATTTGTTGTTTTTACTCATCTTAT GGGAGTATATTAGTTGTTTTACTCATCATATGGGAGTATATTAGTTGTTT TACTCATCATGTGGGTATATATTAGTTGTTTTTACTCATCATATGGGAGT ATATTAGTTGTTTTACTCATCATATGGGTGTATATTAGTTGTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FOXK2_chr17_82514732_82609602	82586499	C C	CGGGGGGG others(915): Show CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAATGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAG AGGGGGGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAG GGGGGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	308	0.0033	922	c.157 others(939): Show c.1576+299_1576+300insGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGG GCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
GPIHBP1_chr8_143208218_143222170	143218345	C C	CCCAACAC others(915): Show CCCAACACCACCCCAACACCACCCCACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCACCACCCCCAACACCACCCAACACCATCC CCCACACCACCCCCAACACCACCCAACACCACCCCACACCACCCCCACAC CACCCAACACCGCCCCCAACACCACCCCCAACACCACCCCAACACCACCC CCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCATCCCC AACACCACCCCAACACCATCCCCAACACCACCCCCAACACCACCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCA TCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCCCAA TAACCCCCCAACACCACCCCCAACACCACCACAACACCATCCCCAACACC ACCCCCAATACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCA ACACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCCAACACC ACCCCAACACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCC CAACACCATCCCCCACACCACCCCCAACACCACCCCCACACTGCCCCCAC ACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACC TCCCCAACACCACCCCCAACACCACCCAACACCATGCCCCACACCACCCC CAACACCACCCCCAACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	922	c.28 others(933): Show c.2827_*2828insCCAACACCACCCCAACACCACCCCACACCACCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCA CACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCCAACACCACCCCCACCACCCCCAACACCACCC CAACACCACCCCAACACCACCCCCAACACCACCCCCACCACCCCCAACAC CACCCAACACCATCCCCCACACCACCCCCAACACCACCCAACACCACCCC ACACCACCCCCACACCACCCAACACCGCCCCCAACACCACCCCCAACACC ACCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACC CCCAACACCATCCCCAACACCACCCCAACACCATCCCCAACACCACCCCC AACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACA CCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCA TCCCCAACACCCCAATAACCCCCCAACACCACCCCCAACACCACCACAAC ACCATCCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCAC CCCAACACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCAA CACCACCCCAACACCACCCCAACACCACCCAACACCATCCCCCACACCAC CCCCAACACCACCCCCAACACCATCCCCCACACCACCCCCAACACCACCC CCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAA CACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCAT GCCCCACACCACCCCCAACACCACCCCCAACACCACCT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1176		chr8	TogoVar
GRAMD4_chr22_46615386_46684785	46635113	A A	AGCCACTC others(915): Show AGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGCCCCCAGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTG GGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGA ACCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCG TGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGC CCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCC GACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCC CCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCAC TCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCT GTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCCGGCCACTCCTGTC CTGGGGAACCGTGTCCTGCCTGCCCCCACCCCCGGCCACTCCTGTCCTGG GGGACCGTGTCTTCCCTGCCCCCGACCCCCGGCCACTCCTGTCCTGGGGA ACCGTGTCCTGCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCG TGTCCTCCCTGCCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0183 a0001c0001t0011g0183	1	328	0.0031	922	c.163 others(939): Show c.163-2709_163-2708insGACCGTGTCCTCCCTGCCCCCGCCCCCA GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTC CTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGG GGAACCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAA CCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGT GTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCC TCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCC TGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCC CCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCA CCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCC TGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGC CACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACT CCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCCGGCCACTCCT GTCCTGGGGAACCGTGTCCTGCCTGCCCCCACCCCCGGCCACTCCTGTCC TGGGGGACCGTGTCTTCCCTGCCCCCGACCCCCGGCCACTCCTGTCCTGG GGAACCGTGTCCTGCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGA CCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
KRTAP4-5_chr17_41143924_41154825	41144157	T T	TTTTCTTG others(915): Show TTTTCTTGCTGCCCAGATGGAGCAAACTTACCAAGACAGGGGAATTGCAA TAGAGAAAGAGTTTAATGTGCATAGAGCCAGCTAAAAGGAGACCAGAGCT TTGTTATTATTCATATCAGCCTCCTTGAAAATTAGGAGGTTAGAGTTTTT CAAGGATAGTTTTGTGAGCAAAGGAATGGGTGCTGCTGATTGGTTGTGGA TGCAATCATAGGGCTGTGGACCATGGTCCTTGTGAGCTGAGTTTGCTTCA GGCAGCGGGGTCGGTGGGGGCAGGACCAGCTGAGTCAAGAGTCACAGGTC CAGGTGGGCCTACTGATTGTCAGAAATGCAAAAACATGAAAGACGTCTCA AAAATCTAATTTTAGGTTCTACAGTAGTGATGTTATCTGCAGGAGTAATT GGGGAAGTTGCAAATCTTGCGACCCTGCAGATAACATCACTACTGTAGAA CCTAAAATTAGATTTTTGAGACGTCTTTTCATGTTTTTGCATTTCTGACA ATCAGTAGGCCCAGCTGGACCTGTGACTCTTGACTCAGCTGGTCCTGCCC CCACCGACCCCCGCTGCCTGAAGCAAACTCAGCTCACAAGGACCATGGTC CACAGCCCTATGATTGCATCCACAACCAATCAGCAGCACCCATTCCTTTG CTCATAAAACTATCCTTGAAAAACTCTAGCCTCCTAAGTGGCTGGTAATT GCTTATGTCTACACCTTAGCAGAACTCAGGCTCCTCTCATCCTCTTAACC TGGTGAACTTTCATTAGTTTTACAAAGGTGGTTTAGTTTTGTGGAATGGA TATTATCATTTAAAACTATAAACTAAATTCCTCCCCCAGGTTAGCTTGGC CCAAGCCCAGGGCAATTTGGAGGTTAAAGGCAAGATAGGAGTTGGTTCAA TCAGATCTCTTCCACTGTGATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	922	c.50 others(933): Show c.5064_*5065insTTATCACAGTGGAAGAGATCTGATTGAACCAACT CCTATCTTGCCTTTAACCTCCAAATTGCCCTGGGCTTGGGCCAAGCTAAC CTGGGGGAGGAATTTAGTTTATAGTTTTAAATGATAATATCCATTCCACA AAACTAAACCACCTTTGTAAAACTAATGAAAGTTCACCAGGTTAAGAGGA TGAGAGGAGCCTGAGTTCTGCTAAGGTGTAGACATAAGCAATTACCAGCC ACTTAGGAGGCTAGAGTTTTTCAAGGATAGTTTTATGAGCAAAGGAATGG GTGCTGCTGATTGGTTGTGGATGCAATCATAGGGCTGTGGACCATGGTCC TTGTGAGCTGAGTTTGCTTCAGGCAGCGGGGGTCGGTGGGGGCAGGACCA GCTGAGTCAAGAGTCACAGGTCCAGCTGGGCCTACTGATTGTCAGAAATG CAAAAACATGAAAAGACGTCTCAAAAATCTAATTTTAGGTTCTACAGTAG TGATGTTATCTGCAGGGTCGCAAGATTTGCAACTTCCCCAATTACTCCTG CAGATAACATCACTACTGTAGAACCTAAAATTAGATTTTTGAGACGTCTT TCATGTTTTTGCATTTCTGACAATCAGTAGGCCCACCTGGACCTGTGACT CTTGACTCAGCTGGTCCTGCCCCCACCGACCCCGCTGCCTGAAGCAAACT CAGCTCACAAGGACCATGGTCCACAGCCCTATGATTGCATCCACAACCAA TCAGCAGCACCCATTCCTTTGCTCACAAAACTATCCTTGAAAAACTCTAA CCTCCTAATTTTCAAGGAGGCTGATATGAATAATAACAAAGCTCTGGTCT CCTTTTAGCTGGCTCTATGCACATTAAACTCTTTCTCTATTGCAATTCCC CTGTCTTGGTAAGTTTGCTCCATCTGGGCAGCAAGAAA	KRTAP4-5	ENSG00000198271.5	transcript	ENST00000343246.6	protein_coding		4766		chr17	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(915): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAAGGAACAAAGGAA GGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGG AGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGG GAGGGAGGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAG GGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGA AGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGG AAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGA GGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGG AGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02970.hp1 HG03195.hp1 HG02897.hp2 HG02970.hp1 HG03195.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0002c0026 a0011c0028 a0002c0003 a0002c0026 a0011c0028	a0002c0003t0005 a0002c0026t0002 a0011c0028t0003 a0002c0003t0005 a0002c0026t0002 a0011c0028t0003	a0002c0003t0005g0010 a0002c0026t0002g0016 a0011c0028t0003g0011 a0002c0003t0005g0010 a0002c0026t0002g0016 a0011c0028t0003g0011	3	88	0.0341	922	c.507 others(941): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGAAGG AAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAGGAA GGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGA AGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAG AAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGGAAGAAA GAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGG AAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGG AAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGC AGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYO1F_chr19_8515778_8582442	8543693	G G	GTGCTGGT others(915): Show GTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGG TGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTG GTGGTGGTGGTGCTGGTGGTGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGCTGGTGCGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGG TGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGG TGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTG GTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCT GGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGG TGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTG GTGGTGGTGCTGGTGGTGGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTG GTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	342	0.0029	922	c.152 others(939): Show c.1524+603_1524+604insGCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCAGCACCACCACCACCACCACCACCAGCACCACCA CCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCAGCACCACCACCACCACCACCACCAGCACCACCACCACCACCAC CACCAGCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA GCACCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACC ACCACCACCACCAGCACCACCACCACCCACCACCAGCACCACCACCACCA CCACCAGCACCACCACCACCACCACCACCAGCACCACCACCACCACCACC AGCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCAGCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCA CCACCACCACCACCAGCACCACCACCACCACCACCACCAGCACCACCACC ACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCAGCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA GCACCACCACCACCACCACCAGCACCACCACCACCACCACCAGCACCACC ACCACCACCACCACCAGCACCACCACCACCACGCACCAGCACCACCACCA CCACCACCACCACCACCACCACCACACCACCAGCACCACCACCACCACCA CCACCAGCACCACCACCACCACCACCACCAGCACCACCACCACCACCACC AGCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAGCAC CACCACCACCACCACCAGCACCACCACCACCACCACCACCAGCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(915): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATAAATATTTATATTTTATA TATTTATATATTTTATATATTTATATATAAATATTTATATTTTATATATT TATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATA TATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATAT AATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATAT ATTATATATTATATATTATATATTTATATTAAATATTATATATTTATATA TTATATATAATATATTTATATTAAATATTATATATTTATATATTATATAT ATTTATATTAAATATTATATATTTATATATTATTTATATTTATATTAAAT ATTATATATTTATATATTATATATATTTATATTAAATATTATATATTTAT ATATTATTTATATTTATATTAAATATTATATATTTATATATTATATATAT TTATATTAAATATTATATATTTATATATTATATATATTTATATTAAATAT TATATATTTATATATTATATATATTTATATTAAATATTATATATTTATAT ATTATATATATTTATATTAAATATTATATATTTATATATTATATATAATA TATTTATATTGAATATTATATATTTATATATTATATATAATATATTTATA TTGAATATTATATATTTATATATTATATATAATATATTTATATTGAATAT TATATATTTATATATTATATATAATATATTTATATTGAATATTATATATT TATATATTATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	170	0.0059	922	c.166 others(941): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATAA ATATTTATATTTTATATATTTATATATTTTATATATTTATATATAAATAT TTATATTTTATATATTTATATATTTTATGATTTTATAAAATATATAATTT ATATAATTTATAAATTATATAATTTATATATTATATATAATATGTTTATA TTAAATATTATATATTATATATTATATATTATATATTATATATTTATATT AAATATTATATATTTATATATTATATATAATATATTTATATTAAATATTA TATATTTATATATTATATATATTTATATTAAATATTATATATTTATATAT TATTTATATTTATATTAAATATTATATATTTATATATTATATATATTTAT ATTAAATATTATATATTTATATATTATTTATATTTATATTAAATATTATA TATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTA TATATATTTATATTAAATATTATATATTTATATATTATATATATTTATAT TAAATATTATATATTTATATATTATATATATTTATATTAAATATTATATA TTTATATATTATATATAATATATTTATATTGAATATTATATATTTATATA TTATATATAATATATTTATATTGAATATTATATATTTATATATTATATAT AATATATTTATATTGAATATTATATATTTATATATTATATATAATATATT TATATTGAATATTATATATTTATATATTATATAAATATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1L_chr2_1784113_2336275	2295593	C C	CAGAGAGA others(915): Show CAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGA GAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGA GAGAGAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGA GAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGA GAGAGAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGA GAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGA GAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGAGAGA CAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGA GAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGA CAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGA GACAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGA GAGAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGAGA GACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGA TAGAGAGACAGACAGACAGAGAGAGAGAGAGACAGACAGACAGAGAGAGA CAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGA GACAGACAGACAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGACA GACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGATAGA GAGACAGACAGACAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGAGA GAGACAGACAGACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0076 a0001c0005t0002g0076	1	104	0.0096	922	c.-52 others(943): Show c.-520-11091_-520-11090insCTCTCTCTCTGTCTGTCTGTCTCT CTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTGTCTGTCTGTCTCT CTATCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCT GTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCT CTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGT CTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTAT CTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCT CTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCT CTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCT CTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGT CTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCT CTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGT CTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCT CTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCT CTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCT CTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCT CTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCT CTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCT CTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
PAIP1_chr5_43521267_43562077	43541207	C C	CTCCGCCT others(915): Show CTCCGCCTCCCGGGTTCACCCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGCTACAGGCGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTTG TAGAGACAGGGTTTCCAGGTTAGCCAGGATGGTCTCGGTCTCCTGACCTC GTGATCCGCCTGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCAGCCCATTCCAAGTATTTTTATAAAGATACTAGTCGGCCG GGCGCGGTGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGG GCGGATCACCAGGTCAGCAGATCGAGACCATCCTGGCTAACACGGTGAAA CTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGCCTGGTGGCGGGCGT GCCTGTAGTCCCAGCTACTAGGAAGGCTGAGGCAGGAGAATGCTGTGAAC GGAGGCGGAGCTTGCAGTGAGCCAAGATCGCGCGCCACTGCACTCCAGCC TGGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGATACTAGTTTTTTTCTTACTCATTCCCAAGAGGCCC CTCTTTTCGTATTAAATAAATAAGCTCATTGCCATGTGTTATACACTATC TGATTTTTACTTCATAAATGTATGCCTTCCCCCCAAAATGCTGCAATCCA TATGTAACTAAATGTATTAATCTCTTGTTTTAGGGCCTGTGGGTATCATG TCTTGTTTAAAAGGTCTTTACCATGCCAAGATTTCTGTTTACTTGCCAAT TTCCCACTTAGCATTTATCATTTCAACTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTG TGATCCGGGCTCACACTGCAAGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	350	0.0029	922	c.734 others(939): Show c.734+1796_734+1797insCCTTGCAGTGTGAGCCCGGATCACACCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGTTGAAATGATAAATGCTAAGTGGGAAATTGG CAAGTAAACAGAAATCTTGGCATGGTAAAGACCTTTTAAACAAGACATGA TACCCACAGGCCCTAAAACAAGAGATTAATACATTTAGTTACATATGGAT TGCAGCATTTTGGGGGGAAGGCATACATTTATGAAGTAAAAATCAGATAG TGTATAACACATGGCAATGAGCTTATTTATTTAATACGAAAAGAGGGGCC TCTTGGGAATGAGTAAGAAAAAAACTAGTATCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCCAGGCTG GAGTGCAGTGGCGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCGTTCA CAGCATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGACTACAGGCACGCC CGCCACCAGGCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGAGTTTCA CCGTGTTAGCCAGGATGGTCTCGATCTGCTGACCTGGTGATCCGCCCGTC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCGGCC GACTAGTATCTTTATAAAAATACTTGGAATGGGCTGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGTGGCAGGCGGATCACGAGGT CAGGAGACCGAGACCATCCTGGCTAACCTGGAAACCCTGTCTCTACAAAA AATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTAGCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGGGTGAACCCGGGAGGCGGA	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	4/10			chr5	TogoVar
PCCA_chr13_100084093_100535435	100451904	C C	CTCTCTCC others(915): Show CTCTCTCCTCTTCCTCTCTCTCCTCTTCCTCTCTCTCTCTCCCCTTCCTC TCTTTCTCTCCCTTCCTCTCTCTCTCCTCTTCCTCCCTGTCTCCTCTTCC TCCCTCTCTCCTCTTCCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCTCT TCCTCTCTCTCTCTCCCTCTTCCTCTCTGTCTCCTCCTTTTCCTCTCTCT CTTCCTCTCTCTGTCTCCTCTTCTGTCTCCTCCTCTCTCTGTCTCCTCCT CTCTCTGTCTCCTCCTCTCTCTGTCTCCTCTTCCTCTCTGTCTTCTTCTC TCTCTCTCTTCTTCCTCTCTCTCTCCTTTCTCTTTCCTCTTCCTCTCTCC TCTCCCTCTCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCCTCTCCCTCTC CCTCTCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCCTCTCCCCCTCCCTC TCTCTCTCCTCTCCCCCTCCCTCTCTCTCTCCTCTCCCCCTCCCTCTCTC TCTCCTCTCCCCCTCCCTCTCTCTCTCCTCTCCCCCTCCCTCTCTCTCTC CTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCTCTCCTCTC CCCCTTTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCT CTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCTCCTCTCCCTCTCTCTT CTCCCTCTCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCTCTCTCC TCTCCCTCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCTCCTCTCC CTCTCTCCTCTCCCTCTCTCTCTTCTCCCTCTCTCTCTCCGCTCTCCTCT CTCTCCTCTCCCTCTCTCTCGTCTCCCTCTCTCTCCTCTCCCTCTCTCTC CTCTCCCTCTCTCTCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	174	0.0058	922	c.189 others(941): Show c.1899+2599_1899+2600insTCTCTCCTCTTCCTCTCTCTCCTCTT CCTCTCTCTCTCTCCCCTTCCTCTCTTTCTCTCCCTTCCTCTCTCTCTCC TCTTCCTCCCTGTCTCCTCTTCCTCCCTCTCTCCTCTTCCTCTCTCTCTC CTCTTCCTCTCTCTCTCTCCTCTTCCTCTCTCTCTCTCCCTCTTCCTCTC TGTCTCCTCCTTTTCCTCTCTCTCTTCCTCTCTCTGTCTCCTCTTCTGTC TCCTCCTCTCTCTGTCTCCTCCTCTCTCTGTCTCCTCCTCTCTCTGTCTC CTCTTCCTCTCTGTCTTCTTCTCTCTCTCTCTTCTTCCTCTCTCTCTCCT TTCTCTTTCCTCTTCCTCTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTC CCTCTCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCCTCTCCCTCTCCCTC TCTCTCTCCTCTCCCCCTCCCTCTCTCTCTCCTCTCCCCCTCCCTCTCTC TCTCCTCTCCCCCTCCCTCTCTCTCTCCTCTCCCCCTCCCTCTCTCTCTC CTCTCCCCCTCCCTCTCTCTCTCCTCTCCCCCTCTCTCCTCTCCCCCTCT CTCCTCTCCCCCTCTCTCCTCTCCCCCTTTCTCCTCTCCCTCTCTCTCCT CTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCTCCTCTC CCTCTCTCCTCTCCCTCTCTCTTCTCCCTCTCTCTCTCCTCTCCCTCTCT CTCTCCTCTCCCTCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTC TCTCCTCTCCCTCTCTCCTCTCCCTCTCTCCTCTCCCTCTCTCTCTTCTC CCTCTCTCTCTCCGCTCTCCTCTCTCTCCTCTCCCTCTCTCTCGTCTCCC TCTCTCTCCTCTCCCTCTCTCTCCTCTCCCTCTCTCTCCTCTCCCT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	21/23			chr13	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(915): Show AGGGGGATGTGGGAGATGAGGGGGACGGGGGGGACGGGGGGGACGCGGGG GACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGG GGGGGACGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGA CGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGG GGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGAC GCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGG GGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGACGC GGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGG ACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGCG GGGGACGCGGGGGACGGGGGGGACGGGGGGACGCGGGGGACGCGGGGGAC GGGGGGGACGAGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGG GGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACG CGGGGGACGCGGGGGACGCGGGGGACGAGGGGGACGCGGGGGACGCGGGG GACGCGGGGGACGGGGGGGACGGGGGGACGCGGGGGACGCGGGGGACGGG GGGGACGAGGGGGACGCGGGGGACGGGGGGACGCGGGGGACGGGGGGGAC GCGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGG GGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACG GGGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGG GACGCGGGGGGCGGGGGGGGCGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0001 a0003c0022t0001	a0003c0022t0001g0185 a0003c0022t0001g0185	1	188	0.0053	922	c.147 others(939): Show c.1474-959_1474-958insCCGCCCCCCCCGCCCCCCGCGTCCCCCC CGCCCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCC CCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGC GTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCCGTCCCCCGCGTCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCCCGT CCCCCGCGTCCCCCGCGTCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCG CGTCCCCCGCGTCCCCCTCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCC CCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCC GTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCTCGTCCCCCCCGTCCC CCGCGTCCCCCGCGTCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGT CCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCC GCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTC CCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGC GTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCG TCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCC CGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCGTCCCCCCCGTC CCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCG CGTCCCCCCCGTCCCCCCCGTCCCCCTCATCTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(915): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGA TGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0017 a0002c0004t0017	a0002c0004t0017g0155 a0002c0004t0017g0155	1	340	0.0029	922	c.227 others(939): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCT CACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGAT GGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCT CTGAGGAGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCA GCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(915): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	304	0.0033	922	c.66+ others(937): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388495	A A	ATAACTTA others(915): Show ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03017.hp2 NA20905.hp2 HG01346.hp1 HG03017.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268	3	304	0.0099	922	c.66+ others(937): Show c.66+3370_66+3371insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388500	T T	TTATAGCT others(915): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0199 a0001c0001t0009g0199	1	304	0.0033	922	c.66+ others(937): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF150_chr4_140854807_141138469	140999942	A A	AAAGAAAG others(915): Show AAAGAAAGAAGAAGAAAGAAGAAAGAAGAAGGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0058 a0001c0001t0089g0058	1	184	0.0054	922	c.485 others(941): Show c.485-32070_485-32069insCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCCTTCTTCTTTCTTCTTTCTTCTTCTTTCTT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
SAMD11_chr1_918923_949574	934861	G G	GCGTTACA others(915): Show GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG GGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGG CGGGGGAGTCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGC GGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCTGCTC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0185	1	434	0.0023	922	c.843 others(937): Show c.843-884_843-883insCCGTTACAGGTGGGCGGGGGGGGCTGCTCC GTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGC TGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAG TCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC31A1_chr9_113216544_113269492	113250305	T T	TAAGAAAA others(915): Show TAAGAAAATGTGGCACATATACACCATGGAATATTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAGAT CACACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGA AAAAAAAAAAAAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAA AACAGTGCGAAATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTT CAGCTTCATTAACTTCTATAATTTGAAATTATCCCAATTATTACCTGACA TGTACTAAAATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGA TAATTTTTCTCTCTGTATATATTTATATAGTCACATATATGCACATACAT TATACAAGCATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTG TTTTCTTTATCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATT AGAAGTAAAGGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTA CACTTAAATTATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0324 a0001c0001t0005g0324	1	418	0.0024	922	c.-35 others(939): Show c.-35-5777_-35-5776insTTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAGCATTGGGAGAT ATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAGATCACACCACTGC ACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAAAAAAAAAAA AAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAAACAGTGCGAA ATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCAGCTTCATTA ACTTCTATAATTTGAAATTATCCCAATTATTACCTGACATGTACTAAAAT TCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATAATTTTTCTC TCTGTATATATTTATATAGTCACATATATGCACATACATTATACAAGCAT TACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTTTTCTTTATC TTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAGAAGTAAAGG AGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTACACTTAAATTA TTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAAATGTGGCACATATACACCATGGAATA	SLC31A1	ENSG00000136868.11	transcript	ENST00000374212.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC31A1_chr9_113216544_113269492	113250305	T T	TAAGAAAA others(915): Show TAAGAAAATGTGGCACATATACACCATGGAATATTATGCAGCCATAAAAA ATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAG CATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATC ACACCACTGCACTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAA AAAAAAAAAAAAAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAA AACAGTGCGAAATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTT CAGCTTCATTAACTTCTATAATTTGAAATTATCCCAATTATTACCTGACA TGTACTAAAATTCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGA TAATTTTTCTCTCTGTATATATTTATATAGTCACATATATGCACATACAT TATACAAGCATTACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTG TTTTCTTTATCTTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATT AGAAGTAAAGGAGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTA CACTTAAATTATTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0327 a0001c0001t0005g0327	1	418	0.0024	922	c.-35 others(939): Show c.-35-5777_-35-5776insTTATGCAGCCATAAAAAATGATGAGTTC ATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAA ACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTG GGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTC TGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGGTAGCATTGGGAGAT ATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCA CATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAA CTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAGATCACACCACTGCA CTCCAGCCTGGGTGTCAAAGCGAGACCCTGTCTCAGGAAAAAAAAAAAAA AAAAAAAAAAGGCTTAATTGATTGAACCAGATTCGAGAAAACAGTGCGAA ATTATAATTTTCTCAATACTGTAAATATTTTTCAATCTTCAGCTTCATTA ACTTCTATAATTTGAAATTATCCCAATTATTACCTGACATGTACTAAAAT TCCCTAAAATGGATCTTGAGTAACATTTTCACAGTACGATAATTTTTCTC TCTGTATATATTTATATAGTCACATATATGCACATACATTATACAAGCAT TACTTTTCTATAACTGTAAGGTCAGAATTTGAAGTTGTGTTTTCTTTATC TTTTTATTTCCAATACTTGGCATCAAGTTGATATTCATTAGAAGTAAAGG AGGAAGGAAATGAATAATCTTCAGATACTAAGAACATTACACTTAAATTA TTATTAAATCTAATTTGCATTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAAATGTGGCACATATACACCATGGAATA	SLC31A1	ENSG00000136868.11	transcript	ENST00000374212.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC38A10_chr17_81239811_81300307	81249456	G G	GAGGAGGG others(915): Show GAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGA GGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAAGGAGGGAGAAGGAGGG AGGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAA GAGGAGGGAGAAGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAG GGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGG AGAAGGAGGGAGGGAGGAGGAGGGAGAAGGGGGGAGGCAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGCAAGAGGAGGGAGAA GGAGGGAGAAGGAGGGAGAAGGAGGGAGAAGGGAGGAGGAGGGAGAAGGA GGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGG GAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGA GGGAGGAGGGAGGGAAGAGGAGGGAGAAAGAGGGAGGGAAGAGGAGGGAG AAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGAA GGAGGGAGGGAAGAGGAAGGAGAAGGAGGGAGGGAGGAGGGAGGGAAGAG GAGGGAGAAAGAGGGAGGGAAGAGGAGGGAAAAGGAGGGAGGGAAGAGGA GGGAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGG GAGAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGAA GAAGGAGGGAGGGAAGAGGAGGGAGAAGGAGGGAGGGAAGAGGAGGGAGA AGGAGGGAGGGAGAAGGAAGGAGGGAAGAGGGAGAAGAGAGGAGGGAGAA AGAGGGAGGCGAGAGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0082 a0002c0001t0002g0082	1	214	0.0047	922	c.206 others(941): Show c.2065+2036_2065+2037insTCTCCCTCCTCTCGCCTCCCTCTTTC TCCCTCCTCTCTTCTCCCTCTTCCCTCCTTCCTTCTCCCTCCCTCCTTCT CCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTTC CTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCT CCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCC TCTTCCCTCCCTCCTTTTCCCTCCTCTTCCCTCCCTCTTTCTCCCTCCTC TTCCCTCCCTCCTCCCTCCCTCCTTCTCCTTCCTCTTCCCTCCCTCCTTC TCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTCCCTCCCTCTTTCTCCCTCCTCTTCCCTCCCTCCTCCCTCC CTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCT CCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCC TTCTCCCTCCTCCTCCCTTCTCCCTCCTTCTCCCTCCTTCTCCCTCCTTC TCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTC CCTCCTCTTGCCTCCCCCCTTCTCCCTCCTCCTCCCTCCCTCCTTCTCCC TCCTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTC CTCTTGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCTTCTCCCTCCTCTTC CCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCTCCTCCC TCCTTCTCCCTCCTTCTCCCTCCTCTTGCCTCCCTCCTTCTCCCTCCTCT TGCCTCCCTCCTTCTCCCTCCTCTTCCCTCCCTCCTTCTCCCTCCT	SLC38A10	ENSG00000157637.13	transcript	ENST00000374759.8	protein_coding	14/15			chr17	TogoVar
SLC5A8_chr12_101150493_101215238	101180717	T T	TAAAAAAA others(915): Show TAAAAAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC CAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGC AAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATC ATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGG AACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGA AGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGAC CCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTG CTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAG CAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAG AAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGA TGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTC TCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTC ATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATAT CACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAATAATAATAATAATAA TAATAATTTAAGATGTACATATATTCCATCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	375	0.0027	922	c.116 others(939): Show c.1166-622_1166-621insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGATGGAATATATGTACATCTTAAATTATTATTATT ATTATTATTATTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACA TGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGT GCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGC TATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATT CCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTG AGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATG ATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATT TTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAA TCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATT GTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCA TGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAA ATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCAC AATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTAT TTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTG CCATTCTAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATT TCTCTGATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGC ATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTTTTT	SLC5A8	ENSG00000256870.3	transcript	ENST00000536262.3	protein_coding	9/14			chr12	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(915): Show GGAGAGGAAAGGAAGGAGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGG GAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG AAAGGAAGGAGGGAGGAAAGAAAGAGGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGGAGGAAAGGAAGGAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	322	0.0031	922	c.597 others(939): Show c.597+1546_597+1547insTCCCCCCCCTCCCTCCTTCCTTTCCTCC CTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCTCCTTCCTTTCCTCCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCT TCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCTCCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC CTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCT CCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCTTTCTTTCCTCCCTCCTTCCTTTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCT CCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(915): Show ACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCC CCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCAT CCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCA CACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATC CACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTA CTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCA CCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCA TCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCA CCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTA TCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCAT CCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTAT CCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACAC CCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCCA CCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCCA CACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCA GCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTA TCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	258	0.0039	922	c.113 others(941): Show c.113-25872_113-25871insCATCCCCCATCCTATCTACCCCCCCA CCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCC CCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATC CACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATC CACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCA CCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCT ACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCC ATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCC ACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTC ATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCC ATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCA GTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCT ATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCT ATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCC ACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATT CATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCC TATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(915): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCCACCC CCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCAT CCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCA CACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATC CACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTA CTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCA CCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCA TCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCA CCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTA TCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCAT CCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTAT CCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACAC CCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCCA CCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCCA CACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCA GCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTA TCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	258	0.0039	922	c.113 others(941): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCC CCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATC CACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATC CACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCA CCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCT ACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCC ATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCC ACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTC ATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCC ATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCA GTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCT ATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCT ATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCC ACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATT CATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCC TATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(915): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCAT CCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCA CACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATC CACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTA CTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCA CCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCA TCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCA CCCATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTA TCTATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCAT CCTATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTAT CCTATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACAC CCACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCCA CCCACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCCA CACTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCA GCCAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTA TCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18612.hp2 HG02083.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0205 a0001c0001t0001g0140 a0001c0001t0001g0205	2	258	0.0078	922	c.113 others(941): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCTCCCATCCTATCCACCCC CCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATC CACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATC CACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCA CCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCT ACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCC ATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCC ACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTC ATCCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCC ATCCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCA GTCTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCT ATCTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCT ATCTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCC ACCCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATT CATCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCC TATCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(915): Show CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGTGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGAC AGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGG GTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGG GACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTC ACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGA ACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGG CGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGC AGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGT GGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGAC AGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGG GGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCAC GGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0059 a0002c0001t0014g0059	1	352	0.0028	922	c.299 others(939): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCT CTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTT CCCGCCCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCC CTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	376820	T T	TCCGTGCC others(915): Show TCCGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCACCCAGCCTCT CCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTATGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGC CTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTATGCCCCACCCA GCCTCTCCCCTCTGTGCCCCCACCCAGCCTCTCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTG CCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCC CCCCGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCT CTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCC ACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	370	0.0027	922	c.-85 others(931): Show c.-851_-850insGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGG GCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGG GTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGAGAGGCTGGGTGGGGGCACAGAGGGGAGAGGCTGGGTGGGGCATA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CGGGGGGGGAGAGGCTGGGTGGGGCATAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGG GGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGGAGAGGCTGGGTGGGGCACGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		795		chr19	TogoVar
TMEM255B_chr13_113754226_113821995	113812938	G G	GTCACAGG others(915): Show GTCACAGGTCCCGGGTGGGTCACAGGCCCCAGGTGGGTCACAGGTCCCGG GTGGGTCACGGGATAGGTCTCGGGTGGATCACAGATCCCGGGTGGGTCAC AGGTCCTGGGTGGGTCACAGGCCCCGGGTGGGTCACAGGTCCTGGGTGGG TCACAGGCCCCGGGTGCGTCACAGGTCCCGGGTGGGTCACAGGACAGGTC TCGGGTGGATCACAGGTCCCGGGTGGGTCACAGGCCCCAGGTGGGTCACA GGTCCCGGGTGGGTCACAGGATAGGTCTCGGGTGGATCACAGATCCCGGG TGGGTCACAGGTCCCGAGTGGGTCACAGGTCCCGGGTGGGTCACAGGTCC CGGGTGGGTCACAGGATAGGTCTCGGGTAGATCACAGATCCCGGGTGGGT CACAGGTCCTGGGTGGGTCACAGGTCCCGGGTGGGTCACAGGTCCCGGGT GGGTCACAGGATAGGTCTCGGGTGGATCACAGATCCCGGGTGGGTCACAG GTCCTGGGTGGGTCACAGGTCCCGGGTGGGTCACAGGTCCCGGGTGGGTC ACAGGATAGGTCTCGGGTGGATCACAGATCCCGGGTGGGTCACAGGTCCT GGGTGGGTCACAGGCCCCGGGTGGGTCACAGGTCCCGGGTGGGTCACAGG TCCCGGGTGGGTCACAGGACAGGTCTCGGGTGGATCACAGGTCCCGGGTG GGTCACAGGTCCCGGTTGGGTCACAGGTCCCGGGTGGGTCACAGGTCCCG AGTGGGTCACAGGTCCCGGGTGGGTCACAGGCCCCGGGTGAGTCACAGGT CCCGGGTGGGTCACAGGTCCCGGGTGGGTCACAGGTCCCGGGTGGGTCAC AGGTCCTGGGTGGGTCACAGGCCCCGGGTGCGTCACAGGTCCCAGGTGGG TCACAGGACAGGTCTCGGGTGGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0118 a0001c0002t0043g0118	1	260	0.0039	922	c.10 others(933): Show c.1039_*1040insAGGTCCCGGGTGGGTCACAGGCCCCAGGTGGGTC ACAGGTCCCGGGTGGGTCACGGGATAGGTCTCGGGTGGATCACAGATCCC GGGTGGGTCACAGGTCCTGGGTGGGTCACAGGCCCCGGGTGGGTCACAGG TCCTGGGTGGGTCACAGGCCCCGGGTGCGTCACAGGTCCCGGGTGGGTCA CAGGACAGGTCTCGGGTGGATCACAGGTCCCGGGTGGGTCACAGGCCCCA GGTGGGTCACAGGTCCCGGGTGGGTCACAGGATAGGTCTCGGGTGGATCA CAGATCCCGGGTGGGTCACAGGTCCCGAGTGGGTCACAGGTCCCGGGTGG GTCACAGGTCCCGGGTGGGTCACAGGATAGGTCTCGGGTAGATCACAGAT CCCGGGTGGGTCACAGGTCCTGGGTGGGTCACAGGTCCCGGGTGGGTCAC AGGTCCCGGGTGGGTCACAGGATAGGTCTCGGGTGGATCACAGATCCCGG GTGGGTCACAGGTCCTGGGTGGGTCACAGGTCCCGGGTGGGTCACAGGTC CCGGGTGGGTCACAGGATAGGTCTCGGGTGGATCACAGATCCCGGGTGGG TCACAGGTCCTGGGTGGGTCACAGGCCCCGGGTGGGTCACAGGTCCCGGG TGGGTCACAGGTCCCGGGTGGGTCACAGGACAGGTCTCGGGTGGATCACA GGTCCCGGGTGGGTCACAGGTCCCGGTTGGGTCACAGGTCCCGGGTGGGT CACAGGTCCCGAGTGGGTCACAGGTCCCGGGTGGGTCACAGGCCCCGGGT GAGTCACAGGTCCCGGGTGGGTCACAGGTCCCGGGTGGGTCACAGGTCCC GGGTGGGTCACAGGTCCTGGGTGGGTCACAGGCCCCGGGTGCGTCACAGG TCCCAGGTGGGTCACAGGACAGGTCTCGGGTGGATCAC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	1040	INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930591	A A	AGGGTTAG others(915): Show AGGGTTAGGGAGGCCGGGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGG TTAGGAAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCAGGGGTTA GGGAGGCCAGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAG CCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGC TGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTT AAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAG GGAGGCTGGGGTTAGGGAGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	466	0.0022	922	c.49 others(933): Show c.4999_*5000insCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCC TCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTA ACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCA GCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTC CTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCC AGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCT CCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACC CTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCGGGCTCCCTAACCC CAGCCTCCCTAACCCCAGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGC CTCCCTGACCCCTGGCCTCCCTAACCCCGGCCTTCCTAACCCCAGCCTTC CTAACCCCCAGCCTCCCTACCCCCGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4778		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870478	A A	ACACCCCA others(915): Show ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCATACACACCACACCCACACACACCACA CCCCACACACACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACACCC CACACACACCACACACCCCACACACACCACACCCCACACACACCACACAC CCCACCACACCACACACACCCACACACACCACACCCCCACACACACCACA CCCCACACACACCACACCCCACACACACCCCACACCCCACACACACCACA CCCCACACCACCACACACCCCACACACACCACACCCCACACCACCACACC CCACACACCACACCCCACACACCACCACCCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCCACACACACCACACCCCA CACACACACCACACACCCCACACACACCACACACACCACACCCCACACAC CACACCCCACACACACCACACACCCCACACCACACCACCACACCCCACAC ACACACCCCACACACACCACACACCCCACACACACCACACACACCACACC CACACACACCACACCCCACACACCCCACACACACCACACACCCCACACAC ACCACACACACCACACCCCACACCACCACACACCACCACACCACACCACA CACACCACACCCCACACACACCACACCCCACACACCCCACACACCACACC CACACACCCCACACACACCACACCCCACACACCACACACACCACACCCCA CACACCACCACACACACCACACCCCCACACACACCACACCCACACACCCA CACACACCACACCCCACACACCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	338	0.0030	922	c.35 others(941): Show c.35+21748_*35+21749insCCCATACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCATACACA CCACACCCACACACACCACACCCCACACACACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACACCCCACCACACCACACACACCCACACACACC ACACCCCCACACACACCACACCCCACACACACCACACCCCACACACACCC CACACCCCACACACACCACACCCCACACCACCACACACCCCACACACACC ACACCCCACACCACCACACCCCACACACCACACCCCACACACCACCACCC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACC CCCACACACACCACACCCCACACACACACCACACACCCCACACACACCAC ACACACCACACCCCACACACCACACCCCACACACACCACACACCCCACAC CACACCACCACACCCCACACACACACCCCACACACACCACACACCCCACA CACACCACACACACCACACCCACACACACCACACCCCACACACCCCACAC ACACCACACACCCCACACACACCACACACACCACACCCCACACCACCACA CACCACCACACCACACCACACACACCACACCCCACACACACCACACCCCA CACACCCCACACACCACACCCACACACCCCACACACACCACACCCCACAC ACCACACACACCACACCCCACACACCACCACACACACCACACCCCCACAC ACACCACACCCACACACCCACACACACCACACCCCACACACCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATTT others(915): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGT AATATATTTATATATTATATTTATGTAATATATTATATATTATATTTATG TAATATATTATATATTATATTTATGTAATATATTATATATTATATTTATG TAATATATTATATATTATATTTATGTAATATATTATATATTATATTTATG TAATATATTATATATTATATTTATGTAATATATTATATATTATATTTATG TAATATATTATATATTATATTTATGTAATATATTATATATTATATTTATG TAATATATTATATATTATATTTATGTAATATATAATATTTATATATTATA TTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATAT TTATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGT AATATATAATATTTATATATTATATTTATGTAATATATAATATTATATAT TATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATA ATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATTT ATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTTA TATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAAT ATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATAT TTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0187 a0001c0004t0023g0187	1	204	0.0049	922	c.213 others(941): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TATATAAATATTATATATTACATAAATATAATATATAAATATTATATATT ACATAAATATAATATATAAATATTATATATTACATAAATATAATATATAA ATATTATATATTACATAAATATAATATATAAATATTATATATTACATAAA TATAATATATAAATATTATATATTACATAAATATAATATATAAATATTAT ATATTACATAAATATAATATATAAATATTATATATTACATAAATATAATA TATAATATTATATATTACATAAATATAATATATAAATATTATATATTACA TAAATATAATATATAAATATTATATATTACATAAATATAATATATAAATA TTATATATTACATAAATATAATATATAAATATTATATATTACATAAATAT AATATATAAATATTATATATTACATAAATATAATATATAATATATTACAT AAATATAATATATAATATATTACATAAATATAATATATAATATATTACAT AAATATAATATATAATATATTACATAAATATAATATATAATATATTACAT AAATATAATATATAATATATTACATAAATATAATATATAATATATTACAT AAATATAATATATAATATATTACATAAATATAATATATAATATATTACAT AAATATAATATATAATATATTACATAAATATAATATATAAATATATTACA TAAATATAATATATAAATATATATTATATATTACATAAATATAATATATA AATATATATTATATATTACATAAATATAATATATAAATATATATTATATA TTACATAAATATAATATATAAATATATATTATATATTACATAAATATAAT ATATAAATATATATTATATATTACATAAATATAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
ABCB5_chr7_20610667_20762008	20668924	A A	AGGAAGTG others(916): Show AGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGG GGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0015 a0002c0003t0003g0015	1	360	0.0028	923	c.170 others(944): Show c.1707+10331_1707+10332insAGTCCGGGAGGGAGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGA GGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668924	A A	AGGAAGTG others(916): Show AGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GGGGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGG GGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02486.hp2 HG02922.hp2	a0018 a0024 a0018 a0024	a0018c0037 a0024c0093 a0018c0037 a0024c0093	a0018c0037t0001 a0024c0093t0001 a0018c0037t0001 a0024c0093t0001	a0018c0037t0001g0065 a0024c0093t0001g0075 a0018c0037t0001g0065 a0024c0093t0001g0075	2	360	0.0056	923	c.170 others(944): Show c.1707+10331_1707+10332insAGTCCGGGAGGGAGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGGGGTGG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGGA GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGA GGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668924	A A	AGGAAGTG others(916): Show AGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGGTTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG GGGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGG GGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0004 a0010c0026t0004	a0010c0026t0004g0072 a0010c0026t0004g0072	1	360	0.0028	923	c.170 others(944): Show c.1707+10331_1707+10332insAGTCCGGGAGGGAGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGTTGG GGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGAGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGGGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGTGGAG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCACCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGAG GGGGGGTCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCCCCCCCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(916): Show AACCACCCCTCCTAATCCCACCAGACAACCTGCCCGCCATGAGCACCTCC CTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTA ATGCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACAGACACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACC ACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCC TAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA GGAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGC ACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCT CCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	368	0.0027	923	c.401 others(940): Show c.401+8336_401+8337insACCACCCCTCCTAATCCCACCAGACAAC CTGCCCGCCATGAGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGACACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATC CCCCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACG GGCACCTCCCTCCTAATCCCAGGAGACCACCTGCCCACCACAGGCACCTC CCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAA TCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(916): Show TGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGCGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	298	0.0034	923	c.955 others(940): Show c.955-6211_955-6210insAACGTTGGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGA GGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(916): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC CTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	391	0.0026	923	c.36 others(934): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCCTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCT CCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
CADM2_chr3_84953989_86079429	85548235	G G	GATAGAAG others(916): Show GATAGAAGGTATTGGATGTAGAGGGAAAATACTATCAGAGATGAGGAGTG TATGACATGGATAAATTAATTTACATCCTCTCCTGTCATATCCCCTAAAT GATTATTTTGCAAAAGAGACTAAATCTGTGGAGTTTCTAGATTTTTCCCC CAAGACAATTCCCACAAATGGAATTGTCTCATTTCCATTTGTTTGCATTG TGTACTTTCACAAATATTCAGGAGTAAACTCTTAAGAATCTGGTAGGTAT GTACTGCTCAAGCTTTATGCATCCTTTTTAAGTTAGACCGAACAGCTTAT CTTTGTTCCACAGAATAGCATACAGTACAGAGAGTGTTGACTATTACAGA GAAAGGCTCTAACTCTGCTTGAGAAGATTAAGACACCTCTGAAAAATGAA CCCTTTGTCTAACCACAGACCAGGGAGAACACGGGCCTAGAAAATGACTC CTTCCTGCTGCCTTTGCTGTCGCTCTGAGGCCTGCCCGAAGGGCACTGCC ACTCACTTACCGTCAAACACCTCTCTCAGCTCTGGAGCGGCACTGCCATA TGACTGATAATTTTCTACTGTTGAAAAGAAAAGTGGACTGTCCCACAGCT CTGTGCTGTCCGTCTTGTGGGAAAACCTACCAGGAGAGGTTCCCATTATT TACTTGCAGCCAATATAGAAGGAGTACAAAGAGTCGTAGAATTTCATTTC AGACCCTTTTTTATTTTTTTTTCTTGGATTTCAAAACAATCATAATGAAG ATTTCTAAGATTTTGGAAGGGCCTTAAATAGGAAGCACTATTTCTGCTGC CTGGGAACACTGTAGATGGTGCGTGGTGTGAGAGTGCATGCCTCAGACCT TCTCTGTGGCACTATTAAAATAAACATGTACCGTCTTGTTAAATCACAGG TGATTTAGATTTCAAGTTGCTGAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp2 others(18): Show HG00140.hp2 HG00280.hp1 HG00423.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02129.hp1 HG02293.hp1 HG02486.hp2 HG02818.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp2 HG03834.hp2 HG06807.hp1 NA18949.hp1 NA18977.hp2 NA18982.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0028 a0001c0001t0045 a0001c0004t0001	a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0002g0138 others(18): Show a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0002g0138 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0083 a0001c0001t0015g0076 a0001c0001t0015g0077 a0001c0001t0015g0133 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0022g0081 a0001c0001t0022g0087 a0001c0001t0028g0122 a0001c0001t0045g0134 a0001c0004t0001g0111	21	146	0.1438	923	c.62- others(942): Show c.62-178286_62-178285insTAGAAGGTATTGGATGTAGAGGGAAA ATACTATCAGAGATGAGGAGTGTATGACATGGATAAATTAATTTACATCC TCTCCTGTCATATCCCCTAAATGATTATTTTGCAAAAGAGACTAAATCTG TGGAGTTTCTAGATTTTTCCCCCAAGACAATTCCCACAAATGGAATTGTC TCATTTCCATTTGTTTGCATTGTGTACTTTCACAAATATTCAGGAGTAAA CTCTTAAGAATCTGGTAGGTATGTACTGCTCAAGCTTTATGCATCCTTTT TAAGTTAGACCGAACAGCTTATCTTTGTTCCACAGAATAGCATACAGTAC AGAGAGTGTTGACTATTACAGAGAAAGGCTCTAACTCTGCTTGAGAAGAT TAAGACACCTCTGAAAAATGAACCCTTTGTCTAACCACAGACCAGGGAGA ACACGGGCCTAGAAAATGACTCCTTCCTGCTGCCTTTGCTGTCGCTCTGA GGCCTGCCCGAAGGGCACTGCCACTCACTTACCGTCAAACACCTCTCTCA GCTCTGGAGCGGCACTGCCATATGACTGATAATTTTCTACTGTTGAAAAG AAAAGTGGACTGTCCCACAGCTCTGTGCTGTCCGTCTTGTGGGAAAACCT ACCAGGAGAGGTTCCCATTATTTACTTGCAGCCAATATAGAAGGAGTACA AAGAGTCGTAGAATTTCATTTCAGACCCTTTTTTATTTTTTTTTCTTGGA TTTCAAAACAATCATAATGAAGATTTCTAAGATTTTGGAAGGGCCTTAAA TAGGAAGCACTATTTCTGCTGCCTGGGAACACTGTAGATGGTGCGTGGTG TGAGAGTGCATGCCTCAGACCTTCTCTGTGGCACTATTAAAATAAACATG TACCGTCTTGTTAAATCACAGGTGATTTAGATTTCAAGTTGCTGACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85548235	G G	GATAGAAG others(916): Show GATAGAAGGTATTGGATGTAGAGGGAAAATACTATCAGAGATGAGGAGTG TATGACATGGATAAATTAATTTACATCCTCTCCTGTCATATCCCCTAAAT GATTATTTTGCAAAAGAGACTAAATCTGTGGAGTTTCTAGATTTTTCCCC CAAGACAATTCCCACAAATGGAATTGTCTCATTTCCATTTGTTTGCATTG TGTACTTTCACAAATATTCAGGAGTAAACTCTTAAGAATCTGGTAGGTAT GTACTGCTCAAGCTTTATGCATCCTTTTTAAGTTAGACCGAACAGCTTAT CTTTGTTCCACAGAATAGCATACAGTACATAGAGTGTTGACTATTACAGA GAAAGGCTCTAACTCTGCTTGAGAAGATTAAGACACCTCTGAAAAATGAA CCCTTTGTCTAACCACAGACCAGGGAGAACACGGGCCTAGAAAATGACTC CTTCCTGCTGCCTTTGCTGTCGCTCTGAGGCCTGCCCGAAGGGCACTGCC ACTCACTTACCGTCAAACACCTCTCTCAGCTCTGGAGCGGCACTGCCATA TGACTGATAATTTTCTACTGTTGAAAAGAAAAGTGGACTGTCCCACAGCT CTGTGCTGTCCGTCTTGTGGGAAAACCTACCAGGAGAGGTTCCCATTATT TACTTGCAGCCAATATAGAAGGAGTACAAAGAGTCGTAGAATTTCATTTC AGACCCTTTTTTATTTTTTTTTCTTGGATTTCAAAACAATCATAATGAAG ATTTCTAAGATTTTGGAAGGGCCTTAAATAGGAAGCACTATTTCTGCTGC CTGGGAACACTGTAGATGGTGCGTGGTGTGAGAGTGCATGCCTCAGACCT TCTCTGTGGCACTATTAAAATAAACATGTACCGTCTTGTTAAATCACAGG TGATTTAGATTTCAAGTTGCTGAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01069.hp1 others(34): Show HG00621.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02015.hp2 HG02129.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02895.hp2 HG03239.hp2 HG03491.hp1 HG03579.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp2 NA18906.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18984.hp1 NA18989.hp1 NA18995.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0020 a0001c0001t0023 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0050	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0063 others(34): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0119 a0001c0001t0002g0137 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0062 a0001c0001t0003g0113 a0001c0001t0004g0105 a0001c0001t0004g0117 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0128 a0001c0001t0007g0029 a0001c0001t0007g0082 a0001c0001t0010g0020 a0001c0001t0012g0057 a0001c0001t0020g0043 a0001c0001t0023g0003 a0001c0001t0032g0112 a0001c0001t0035g0036 a0001c0001t0036g0106 a0001c0001t0039g0072 a0001c0001t0041g0056 a0001c0001t0044g0041 a0001c0001t0050g0107	37	146	0.2534	923	c.62- others(942): Show c.62-178286_62-178285insTAGAAGGTATTGGATGTAGAGGGAAA ATACTATCAGAGATGAGGAGTGTATGACATGGATAAATTAATTTACATCC TCTCCTGTCATATCCCCTAAATGATTATTTTGCAAAAGAGACTAAATCTG TGGAGTTTCTAGATTTTTCCCCCAAGACAATTCCCACAAATGGAATTGTC TCATTTCCATTTGTTTGCATTGTGTACTTTCACAAATATTCAGGAGTAAA CTCTTAAGAATCTGGTAGGTATGTACTGCTCAAGCTTTATGCATCCTTTT TAAGTTAGACCGAACAGCTTATCTTTGTTCCACAGAATAGCATACAGTAC ATAGAGTGTTGACTATTACAGAGAAAGGCTCTAACTCTGCTTGAGAAGAT TAAGACACCTCTGAAAAATGAACCCTTTGTCTAACCACAGACCAGGGAGA ACACGGGCCTAGAAAATGACTCCTTCCTGCTGCCTTTGCTGTCGCTCTGA GGCCTGCCCGAAGGGCACTGCCACTCACTTACCGTCAAACACCTCTCTCA GCTCTGGAGCGGCACTGCCATATGACTGATAATTTTCTACTGTTGAAAAG AAAAGTGGACTGTCCCACAGCTCTGTGCTGTCCGTCTTGTGGGAAAACCT ACCAGGAGAGGTTCCCATTATTTACTTGCAGCCAATATAGAAGGAGTACA AAGAGTCGTAGAATTTCATTTCAGACCCTTTTTTATTTTTTTTTCTTGGA TTTCAAAACAATCATAATGAAGATTTCTAAGATTTTGGAAGGGCCTTAAA TAGGAAGCACTATTTCTGCTGCCTGGGAACACTGTAGATGGTGCGTGGTG TGAGAGTGCATGCCTCAGACCTTCTCTGTGGCACTATTAAAATAAACATG TACCGTCTTGTTAAATCACAGGTGATTTAGATTTCAAGTTGCTGACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85548235	G G	GATAGAAG others(916): Show GATAGAAGGTATTGGATGTAGAGGGAAAATACTATCAGAGATGAGGAGTG TATGACATGGATAAATTAATTTACATCCTCTCCTGTCATATCCCCTAAAT GATTATTTTGCAAAAGAGACTAAATCTGTGGAGTTTCTAGATTTTTCCCC CAAGACAATTCCCACAAATGGAATTGTCTCATTTCCATTTGTTTGCATTG TGTACTTTCACAAATATTGAGGAGTAAACTCTTAAGAATCTGGTAGGTAT GTACTGCTCAAGCTTTATGCATCCTTTTTAAGTTAGACCGAACAGCTTAT CTTTGTTCCACAGAATAGCATACAGTACAGAGAGTGTTGACTATTACAGA GAAAGGCTCTAACTCTGCTTGAGAAGATTAAGACACCTCTGAAAAATGAA CCCTTTGTCTAACCACAGACCAGGGAGAACACGGGCCTAGAAAATGACTC CTTCCTGCTGCCTTTGCTGTCGCTCTGAGGCCTGCCCGAAGGGCACTGCC ACTCACTTACCGTCAAACACCTCTCTCAGCTCTGGAGCGGCACTGCCATA TGACTGATAATTTTCTACTGTTGAAAAGAAAAGTGGACTGTCCCACAGCT CTGTGCTGTCCGTCTTGTGGGAAAACCTACCAGGAGAGGTTCCCATTATT TACTTGCAGCCAATATAGAAGGAGTACAAAGAGTCGTAGAATTTCATTTC AGACCCTTTTTTATTTTTTTTTCTTGGATTTCAAAACAATCATAATGAAG ATTTCTAAGATTTTGGAAGGGCCTTAAATAGGAAGCACTATTTCTGCTGC CTGGGAACACTGTAGATGGTGCGTGGTGTGAGAGTGCATGCCTCAGACCT TCTCTGTGGCACTATTAAAATAAACATGTACCGTCTTGTTAAATCACAGG TGATTTAGATTTCAAGTTGCTGAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	146	0.0069	923	c.62- others(942): Show c.62-178286_62-178285insTAGAAGGTATTGGATGTAGAGGGAAA ATACTATCAGAGATGAGGAGTGTATGACATGGATAAATTAATTTACATCC TCTCCTGTCATATCCCCTAAATGATTATTTTGCAAAAGAGACTAAATCTG TGGAGTTTCTAGATTTTTCCCCCAAGACAATTCCCACAAATGGAATTGTC TCATTTCCATTTGTTTGCATTGTGTACTTTCACAAATATTGAGGAGTAAA CTCTTAAGAATCTGGTAGGTATGTACTGCTCAAGCTTTATGCATCCTTTT TAAGTTAGACCGAACAGCTTATCTTTGTTCCACAGAATAGCATACAGTAC AGAGAGTGTTGACTATTACAGAGAAAGGCTCTAACTCTGCTTGAGAAGAT TAAGACACCTCTGAAAAATGAACCCTTTGTCTAACCACAGACCAGGGAGA ACACGGGCCTAGAAAATGACTCCTTCCTGCTGCCTTTGCTGTCGCTCTGA GGCCTGCCCGAAGGGCACTGCCACTCACTTACCGTCAAACACCTCTCTCA GCTCTGGAGCGGCACTGCCATATGACTGATAATTTTCTACTGTTGAAAAG AAAAGTGGACTGTCCCACAGCTCTGTGCTGTCCGTCTTGTGGGAAAACCT ACCAGGAGAGGTTCCCATTATTTACTTGCAGCCAATATAGAAGGAGTACA AAGAGTCGTAGAATTTCATTTCAGACCCTTTTTTATTTTTTTTTCTTGGA TTTCAAAACAATCATAATGAAGATTTCTAAGATTTTGGAAGGGCCTTAAA TAGGAAGCACTATTTCTGCTGCCTGGGAACACTGTAGATGGTGCGTGGTG TGAGAGTGCATGCCTCAGACCTTCTCTGTGGCACTATTAAAATAAACATG TACCGTCTTGTTAAATCACAGGTGATTTAGATTTCAAGTTGCTGACA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(916): Show GGTGGTGGTGATGATGATGATGATGATGGTGATGATGATGATGATGGTGA TGATGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATG ATGATGGTGATGATGGTGATGATGATGGTGATGGTGATGATGACGGTGAT GATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGA TGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGAT GATGATGATGGTGGTGATGATGATGGTGATGGTGATGATGGTGATGATGA TGGTGATGATGATGATGGTGGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGAGGATGATGATGATGGTGATGATGATGGTGGTGATGATGGT GATGGTGATGGTGATGATGGTGATGATGATGATGATGGTGATGATGGTGA TGATGATGATGGTGATGATGGTGATGATGGTGATGGTTATGATGGTGATG GTGATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGAT GATGATGATGAGGAGGATGATGATGGTGATGATGATGGTGATGACGATGA TGGTGATGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGATG ATGATGAGGATGGTGATGATGGTGATGGTGATGATGATGGTGAGGATGGT GATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGA TGATGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGATGATGGTGATTATGATGATGATGATGAT GGTGATGATGATGGTGATGATGAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	320	0.0031	923	c.937 others(938): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGATGGTGA TGATGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTG ATGATGAGGATGATGATGATGATGGTGATGATGGTGATGATGATGGTGAT GGTGATGATGACGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGA TGATGATGGTGATGATGATGATGGTGATGATGAGGATGATGATGGTGATG ATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGAT GGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGATGGTGATGG TGATGATGGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGAGGATGATGATGATGGTGATGAT GATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGATGA TGATGGTGATGATGGTGATGATGATGATGGTGATGATGGTGATGATGGTG ATGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGT GATGGTGATGATAAGGATGATGATGATGAGGAGGATGATGATGGTGATGA TGATGGTGATGACGATGATGGTGATGATGATGGTGATGACGATGATGGTG ATTGTGATGATGGTGATGATGATGAGGATGGTGATGATGGTGATGGTGAT GATGATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGA TGGTGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGGTGAT TATGATGATGATGATGATGGTGATGATGATGGTGATGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(916): Show GGTGGTGGTGATGATGATGATGATGATGGTGATGATGATGATGATGGTGA TGATGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATG ATGATGGTGATGATGGTGATGATGATGGTGATGGTGATGATGACGGTGAT GATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGA TGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGAT GATGATGATGGTGGTGATGATGATGGTGATGGTGATGATGGTGATGATGA TGGTGATGATGATGATGGTGGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGAGGATGATGATGATGGTGATGATGATGGTGGTGATGATGGT GATGGTGATGGTGATGATGGTGATGATGATGATGGTGATGATGGTGATGA TGATGATGGTGATGATGGTGATGATGGTGATGGTTATGATGGTGATGGTG ATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGATGAT GATGATGAGGAGGATGATGATGGTGATGATGATGGTGATGACGATGATGG TGATGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGATGATG ATGAGGATGGTGATGATGGTGATGGTGATGATGATGGTGAGGATGGTGAT GATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGATGA TGATGGTGATGATGATGATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGATGATGGTGATTATGATGATGATGATGAT GGTGATGATGATGGTGATGATGAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	320	0.0031	923	c.937 others(938): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGATGGTGA TGATGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTG ATGATGAGGATGATGATGATGATGGTGATGATGGTGATGATGATGGTGAT GGTGATGATGACGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGA TGATGATGGTGATGATGATGATGGTGATGATGAGGATGATGATGGTGATG ATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGAT GGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGATGGTGATGG TGATGATGGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGAGGATGATGATGATGGTGATGAT GATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGATGA TGGTGATGATGGTGATGATGATGATGGTGATGATGGTGATGATGGTGATG GTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGAT GGTGATGATAAGGATGATGATGATGAGGAGGATGATGATGGTGATGATGA TGGTGATGACGATGATGGTGATGATGATGGTGATGACGATGATGGTGATT GTGATGATGGTGATGATGATGAGGATGGTGATGATGGTGATGGTGATGAT GATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGATGG TGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGGTGAT TATGATGATGATGATGATGGTGATGATGATGGTGATGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(916): Show GGTGGTGGTGATGATGATGATGATGATGGTGATGATGATGATGATGGTGA TGATGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATG ATGATGGTGATGATGGTGATGATGATGGTGATGGTGATGATGACGGTGAT GATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGA TGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGATGATGGTG ATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGGTGAT GATGATGATGGTGGTGATGATGATGGTGATGGTGATGATGGTGATGATGG TGATGATGATGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGATG GTGATGAGGATGATGATGATGGTGATGATGATGGTGGTGATGATGGTGAT GGTGATGGTGATGATGGTGATGATGATGATGATGGTGATGATGGTGATGA TGATGATGGTGATGATGGTGATGATGGTGATGGTTATGATGGTGATGGTG ATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATAAGGATGAT GATGATGAGGAGGATGATGATGGTGATGATGATGGTGATGACGATGATGG TGATGATGATGGTGATGACGATGATGGTGATTGTGATGATGGTGATGATG ATGAGGATGGTGATGATGGTGATGGTGATGATGATGGTGAGGATGGTGAT GATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGTGATGA TGATGGTGATGATGATGATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGATGATGGTGATTATGATGATGATGATGAT GGTGATGATGATGGTGATGATGAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	320	0.0031	923	c.937 others(938): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGATGGTGA TGATGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTG ATGATGAGGATGATGATGATGATGGTGATGATGGTGATGATGATGGTGAT GGTGATGATGACGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGA TGATGATGGTGATGATGATGATGGTGATGATGAGGATGATGATGGTGATG ATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGAT GGTGATGATGATGGTGATGATGATGATGGTGGTGATGATGATGGTGATGG TGATGATGGTGATGATGGTGATGATGATGATGGTGGTGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGAGGATGATGATGATGGTGATGATGAT GGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGATGATGA TGGTGATGATGGTGATGATGATGATGGTGATGATGGTGATGATGGTGATG GTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGAT GGTGATGATAAGGATGATGATGATGAGGAGGATGATGATGGTGATGATGA TGGTGATGACGATGATGGTGATGATGATGGTGATGACGATGATGGTGATT GTGATGATGGTGATGATGATGAGGATGGTGATGATGGTGATGGTGATGAT GATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGATGATGG TGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGGTGAT TATGATGATGATGATGATGGTGATGATGATGGTGATGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AAGGGGGA others(916): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	344	0.0029	923	c.85- others(940): Show c.85-13053_85-13052insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89588191	G G	GCCCCCGT others(916): Show GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTG TCACCCGTGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCAGCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCGTGT GTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCC CGTGTCACCCGTGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGC GTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAG ATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCC GTGTGTCACCCACAGAAACACGGC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	348	0.0029	923	c.928 others(938): Show c.928-470_928-469insACAGATACACGGCCCCCGTGTCACCCGCGT GTCACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGA TACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCC CCGTGTCACCCGTGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCG CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCGTGTCAGCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACC CGTGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACATGGC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGG CCCCCCGTGTCACCCGTGTGTCACCCACAGAAACACGGCCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACC CACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGT CACCCGTGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(916): Show GTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACTATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCT GCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGCTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0134 a0001c0001t0011g0134	1	396	0.0025	923	c.513 others(940): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACTATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGCTGCCACCACTACCTGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGC TGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar

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Search Results (Total: 6036 hits)