Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CLPTM1L_chr5_1312752_1350099	1333252	A A	AGATGAGG others(661): Show AGATGAGGATAAGGGGGGGACTACTGTAGATACACGGGATGAGGATAAGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATAC ACATTGGATGAGGATAAGGGGGGACTATTGTATACACACCAGATGAGTAT AAGGGGGGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTG TATACACACCGGATGAGGATAAGGGGAGACTACTGTATACACACGGGATG AGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGGGGGGACTAC TGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACACGG GATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGG GGACTACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACA CACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATA AGGGGAGACTACTGTATACACACCGGATGAGGATAAGGGGAGACTACTGT ATACACACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGA TAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGGACTAC TGTATACACACCGGATGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02572.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0126 a0001c0001t0001g0127	2	370	0.0054	668	c.891 others(685): Show c.891+1036_891+1037insCTCATCCGGTGTGTATACAGTAGTCCCC CCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCT GGTGTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTC TCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCTCCCCTTATCCTCAT CCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAG TAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATC CTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTCATCCCGTGTGTG TATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCC CCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCTCATCCCGTG TGTATACAGTAGTCTCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCC CCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATACTCATC TGGTGTGTATACAATAGTCCCCCCTTATCCTCATCCAATGTGTATACAGT AGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCTTATCCT CATCCCGTGTATCTACAGTAGTCCCCCCCTTATCCTCATC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGAAA others(661): Show AGGGGAAAGGCAGGAAGGGAAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0153 a0001c0007t0001g0153	1	344	0.0029	668	c.85- others(685): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTTCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTTCCCCTTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647412	C C	CCACAATC others(661): Show CCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCTTACTCC ACACCCCTCCTCCAACCCCTCCTCCACAGACCTCCCTCTCGTCCACACCC CTCCAATTCCACAGCCCTCCTCCACCTCCACACACCCAATCCTCCTCCAG TCCTCCTCCTCCACACACCTTCTCCTCCACACACCTTCTCCTCCACACCT CACCTCCTCCTGCACACCCCTACCCCACCGCACCCCTCCCCCTCCTCCTC CACACTCACTCAACACCCCTCCTCCTCCTCATCCCTCCCCTTTCACACCC CTCCTCAACTTCCACACCCCTCCCCCTCCTCACCCCTCCCACTTCAACTC TCCTCCTCACCCCTCCTCCTCTGCCACACCCCTACTCCTCCTCACCCATC ATCCTCCACGCCCCTTCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCT CCTCCTCACTCCTCCTCCTCCTCCACACCCCTTCTCCTCCTCACCCTTTG TCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTC CTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCAC CCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACC CCTCCTGCTCCACATCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0137 a0002c0002t0020g0137	1	276	0.0036	668	c.52 others(679): Show c.5272_*5273insCACAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCTTACTCCACACCCCTCCTCCAACCCCTCCTCCACAGACCTCC CTCTCGTCCACACCCCTCCAATTCCACAGCCCTCCTCCACCTCCACACAC CCAATCCTCCTCCAGTCCTCCTCCTCCACACACCTTCTCCTCCACACACC TTCTCCTCCACACCTCACCTCCTCCTGCACACCCCTACCCCACCGCACCC CTCCCCCTCCTCCTCCACACTCACTCAACACCCCTCCTCCTCCTCATCCC TCCCCTTTCACACCCCTCCTCAACTTCCACACCCCTCCCCCTCCTCACCC CTCCCACTTCAACTCTCCTCCTCACCCCTCCTCCTCTGCCACACCCCTAC TCCTCCTCACCCATCATCCTCCACGCCCCTTCTCCTCCTCACTCCTCCTC CTCCTCCACACCCCTCCTCCTCACTCCTCCTCCTCCTCCACACCCCTTCT CCTCCTCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTC TCTTCACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTC CACACTCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGG TTCCTCCTCCACACCCCTCCTGCTCCACATCCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2068		chr15	TogoVar
DPEP1_chr16_89608642_89643433	89618994	G G	GCCCCCTG others(661): Show GCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCAT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCC TGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCC GCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CCGCTCCCCTCCCTGCAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0051 a0002c0002t0003g0051	1	250	0.0040	668	c.-10 others(687): Show c.-107+5288_-107+5289insTGCTCCCCTCCCTGCAGCCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCG CTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCC GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC2_chr6_480154_698139	601974	A A	ACATTCTC others(661): Show ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCAC ACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACA CCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGC GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACAC ACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTCTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACAT TCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCA AGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAGAACACCCC GTCTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCGAAT CCACACATTCTCACACCAAGAACACCCCGTGTGCGAATCCACACACATTC TCACACCAAGAACACCCCGTGTGCGAATCCACACACATTCTCACACCAAG AACACCCCGTGTGCGAATC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0143 a0001c0001t0004g0143	1	272	0.0037	668	c.743 others(685): Show c.743-2750_743-2749insGATTCGCACACGGGGTGTTCTTGGTGTG AGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTG TGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTG GATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACA CGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCAGACGGGGTGTTC TTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAG AATGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATT CGCACACGGGGTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGG GTGTTCTTGGTGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGG TGTGAGAATGTGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATG TGTGTGGATTCGCACACGGGGTGTTCTTGGTGTGAGAATG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
FAM210A_chr18_13658347_13731558	13675876	C C	CCTGAGCC others(661): Show CCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGC CCTGGCTTCTTTTTTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCG ACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTATT TCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGACTTCTTTATTTCCA GTTTCCTGATTATTAACATTCCTGAGCCCCGGCTTCTTTATTTCCTGTTT CCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGTTTCCTG ATTATTAACATTCCTGAGACCCGACTTCATTTCCAGTTTCCTGATTATTA ACATTCCTGAGCCCTGGCTTCTTGATTTCCAGTTTCCTGATTATTAACAT TCCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTAACATTCCTGAG CCCTGGCTTCTTTATTTCCTGTTTCCTCATTATTAACATTCCTGAGCCCC GACTTCATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACT TCATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCCTCTTTAT TTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCGACTTCATTTCCAGT TTCCTGATTATTAACATTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0284	1	326	0.0031	668	c.474 others(685): Show c.474-3904_474-3903insAAATGTTAATAATCAGGAAACTGGAAAT GAAGTCGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAAGAGG CCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATGAAGTCGGGGC TCAGGAATGTTAATAATCAGGAAACTGGAAATAATGAAGTCGGGGCTCAG GAATGTTAATAATGAGGAAACAGGAAATAAAGAAGCCAGGGCTCAGGAAT GTTAATAATCAGGAAACTGGAAATGAAGTCGGGGCTCAGGAATGTTAATA ATCAGGAAACTGGAAATCAAGAAGCCAGGGCTCAGGAATGTTAATAATCA GGAAACTGGAAATGAAGTCGGGTCTCAGGAATGTTAATAATCAGGAAACA GGAAATAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACAGGAA ATAAAGAAGCCGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAA AGAAGTCACGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAGTCG GGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATGAAGTCGGGGCTCA GGAATGTTAATAATCAGGAAACTGGAAAAAAAGAAGCCAGGGCTCAGGAA TGTTAATAATCAGGAAACTGGAAATGAAGTCGGGGCTCAG	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FOXP1_chr3_70949708_71588728	71435248	A A	AAGGAAGG others(661): Show AAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACG GAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGA GGGAGGGACGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGAGGGAGGGGA GGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGA GGGACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0037 a0001c0001t0060g0037	1	96	0.0104	668	c.-16 others(689): Show c.-168+58177_-168+58178insCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCC TCCCTCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCTCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(661): Show TCCTCCCCCCACGGGACACATCCCCCTCCCCCCACGGGACACATACCCCC TCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTC CAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCA CGGGACACATCCCCCTCCCCCACGGGACACATCCCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGAC ACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATA CCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCC CCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCC TCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTC CCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCC TCCAGGGGACCACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	143	0.0070	668	c.35 others(679): Show c.3546_*3547insGGGGATGTGGTCCCCTGGAGGGAGGGGGGATGTG CCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTC CCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGG GGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGATGTGTCCCCTGGAGGG AGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGTCCCGTGGGGGAGGGGGATGTGTCCCGTGGGGGGAGGGGGGA TGTGTCCCGAGGAGGGAGGGGGGATGTGTTCCCTGGAGGGAGGGGGGATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTC CCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCC GTGGGGGGAGGGGGATGTGTCCCGTGGGGGGAGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding		3231		chr13	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03225.hp1 HG06807.hp1 others(2): Show HG02965.hp2 HG03225.hp1 HG06807.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0022 a0001c0001t0003g0151 a0001c0001t0003g0152	5	408	0.0123	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCACCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCACCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(40): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0002t0002 a0001c0002t0006 a0001c0002t0013 a0001c0002t0018 a0001c0002t0024 a0001c0002t0027 a0001c0002t0031 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0004t0001 a0001c0006t0033 a0001c0007t0003 a0002c0003t0010 a0002c0003t0037 a0003c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0023 others(199): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0017 a0001c0001t0003g0035 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0054 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0118 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0184 a0001c0001t0004g0003 a0001c0001t0004g0010 a0001c0001t0004g0019 a0001c0001t0004g0055 a0001c0001t0004g0097 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0142 a0001c0001t0004g0145 a0001c0001t0004g0185 a0001c0001t0005g0007 a0001c0001t0005g0020 a0001c0001t0005g0096 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0005g0114 a0001c0001t0007g0004 a0001c0001t0007g0048 a0001c0001t0007g0065 a0001c0001t0007g0066 a0001c0001t0007g0069 a0001c0001t0007g0091 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0008g0016 a0001c0001t0008g0040 a0001c0001t0008g0124 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0009g0015 a0001c0001t0009g0021 a0001c0001t0009g0038 a0001c0001t0009g0120 a0001c0001t0009g0121 a0001c0001t0011g0011 a0001c0001t0011g0047 a0001c0001t0011g0143 a0001c0001t0012g0001 a0001c0001t0012g0028 a0001c0001t0012g0182 a0001c0001t0014g0039 a0001c0001t0014g0125 a0001c0001t0015g0001 a0001c0001t0016g0011 a0001c0001t0016g0108 a0001c0001t0016g0113 a0001c0001t0019g0001 a0001c0001t0020g0062 a0001c0001t0020g0133 a0001c0001t0021g0023 a0001c0001t0021g0183 a0001c0001t0022g0067 a0001c0001t0022g0141 a0001c0001t0023g0030 a0001c0001t0025g0003 a0001c0001t0026g0003 a0001c0001t0026g0098 a0001c0001t0028g0061 a0001c0001t0029g0090 a0001c0001t0030g0012 a0001c0001t0032g0095 a0001c0001t0034g0038 a0001c0001t0035g0178 a0001c0001t0040g0012 a0001c0001t0041g0111 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0018 a0001c0002t0002g0029 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0045 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0002g0060 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0089 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0144 a0001c0002t0002g0147 a0001c0002t0006g0002 a0001c0002t0006g0018 a0001c0002t0006g0029 a0001c0002t0006g0045 a0001c0002t0006g0080 a0001c0002t0006g0082 a0001c0002t0013g0008 a0001c0002t0013g0032 a0001c0002t0013g0076 a0001c0002t0018g0006 a0001c0002t0018g0079 a0001c0002t0018g0088 a0001c0002t0024g0031 a0001c0002t0027g0006 a0001c0002t0031g0002 a0001c0002t0036g0002 a0001c0002t0038g0002 a0001c0002t0039g0018 a0001c0004t0001g0023 a0001c0006t0033g0186 a0001c0007t0003g0150 a0002c0003t0010g0014 a0002c0003t0010g0057 a0002c0003t0010g0058 a0002c0003t0010g0059 a0002c0003t0037g0131 a0003c0005t0004g0010	387	408	0.9485	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGGCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	408	0.0025	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGGCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCATGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGAAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCATGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GATC_chr12_120441444_120468749	120467991	A A	AGCTGAGG others(661): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGCAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATG TAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAG ATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCAC CACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGT TGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCC TCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCC TCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGT GGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCA CCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGT CTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTAT AATCCCAGCTACTCAGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	408	0.0025	668	c.80 others(679): Show c.8032_*8033insGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGC CGAGGTTGCAGTGAGCGGAGACAGTGACATCGCACTCCAGCCTGGGCAAC AAGAGCAAAACTCCGTCTCAAAAAAATAAAGCAAAATAAAAAAAACAAAT CCCTCGAACTTTTTCTCTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CACCAGGCTGGGATGTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACT ACAGGCGCGCGCCACCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATC AGTAACTCTAAATCCTCAATATCCTGATCTGTAAAATCTGGTTAACCATA CAGGCCGGGTGAGGTGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCT GAGGCGGGCGGATCACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAAC AAGGAGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTG GTGGCGCATGCCTATAATCCCAGCTACTCAGGAC	GATC	ENSG00000257218.6	transcript	ENST00000551765.6	protein_coding		4243		chr12	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(661): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATT TACAAATATATATATTTATATATATATTTATATTTATATATATTTATATT TATATATATATATATAAATATATATTTATGTATATTTATATATAAATATA AATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0141 a0001c0001t0035g0141	1	208	0.0048	668	c.-97 others(685): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATAAATATATATATTTATATATAAATATATATATTT ATATATATATTTATATATAAATATATATATTTATATATAAATATATATAT TTATATTTACAAATATATATATTTATATATATATTTATATTTATATATAT TTATATTTATATATATATATATAAATATATATTTATGTATATTTATATAT AAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(661): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACAACACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACACACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACATACACACCACAAGCACACCACAC ACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01516.hp1 others(11): Show HG00639.hp2 HG00642.hp1 HG01516.hp1 HG01517.hp2 HG02572.hp1 HG02965.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA18948.hp1 NA18980.hp1 NA18982.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0004 a0001c0001t0004 a0001c0003t0004	a0001c0001t0004g0019 a0001c0001t0004g0041 a0001c0001t0004g0082 others(6): Show a0001c0001t0004g0019 a0001c0001t0004g0041 a0001c0001t0004g0082 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0163 a0001c0003t0004g0020 a0001c0003t0004g0047 a0001c0003t0004g0102	14	380	0.0368	668	c.41 others(679): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGGTATGTGGTGTGTGTGTATCTGGTGTGTGTGG TATGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTGTATGGTTATGTGT GGGGGGTGTGGTGTGGTGTGTGTGTGGTGTGTGGTTTGTGCACTGTGTGT GGTGTGTGGGGTGTGTGTGGTGTGTACAGTGTGTGCAGTGTCTGGGGTGT GTGTGGTGTGTGTGATGTGTGTGGTATGTGTGGTGTGTGAATGTGGTATG TGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGTGTGTGGTGTGTGCAG TGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGGCATGTGCGG CGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGGGTGTTTGTGGTGTGT GGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTCTGTGTGTGGTGTGTC GTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTGTGTGCGGTGTGTGCA GTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGGTGTGTGGTGTATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTTGTGTGTGTGGTGCATGT GTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(661): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACAACACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACTGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACACACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACATACACACCACAAGCACACCACAC ACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	380	0.0026	668	c.41 others(679): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGGTATGTGGTGTGTGTGTATCTGGTGTGTGTGG TATGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTGTATGGTTATGTGT GGGGGGTGTGGTGTGGTGTGTGTGTGGTGTGTGGTTTGTGCACTGTGTGT GGTGTGTGGGGTGTGTGTGGTGTGTACAGTGTGTGCAGTGTCTGGGGTGT GTGTGGTGTGTGTGATGTGTGTGGTATGTGTGGTGTGTGAATGTGGTATG TGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGTGTGTGGTGTGTGCAG TGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGGCATGTGCGG CGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGGGTGTTTGTGGTGTGT GGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTCTGTGTGTGGTGTGTC GTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTGTGTGCAGTGTGTGCA GTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGGTGTGTGGTGTATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGTTGTGTGTGTGGTGCATGT GTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(661): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACACACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACATACACACCACAAGCACACCACAC ACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02451.hp2 HG02630.hp2 others(14): Show HG01243.hp1 HG02451.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19043.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0009 a0001c0001 a0001c0003 a0006c0009	a0001c0001t0004 a0001c0001t0010 a0001c0003t0006 others(3): Show a0001c0001t0004 a0001c0001t0010 a0001c0003t0006 a0001c0003t0007 a0001c0003t0012 a0006c0009t0004	a0001c0001t0004g0118 a0001c0001t0010g0074 a0001c0003t0006g0014 others(10): Show a0001c0001t0004g0118 a0001c0001t0010g0074 a0001c0003t0006g0014 a0001c0003t0006g0042 a0001c0003t0006g0109 a0001c0003t0006g0127 a0001c0003t0006g0128 a0001c0003t0006g0129 a0001c0003t0006g0130 a0001c0003t0007g0057 a0001c0003t0007g0058 a0001c0003t0012g0083 a0006c0009t0004g0123	17	380	0.0447	668	c.41 others(679): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGGTATGTGGTGTGTGTGTATCTGGTGTGTGTGG TATGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTGTATGGTTATGTGT GGGGGGTGTGGTGTGGTGTGTGTGTGGTGTGTGGTTTGTGCACTGTGTGT GGTGTGTGGGGTGTGTGTGGTGTGTACAGTGTGTGCAGTGTCTGGGGTGT GTGTGGTGTGTGTGATGTGTGTGGTATGTGTGGTGTGTGAATGTGGTATG TGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGTGTGTGGTGTGTGCAG TGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGGCATGTGCGG CGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGGGTGTTTGTGGTGTGT GGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTCTGTGTGTGGTGTGTC GTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTGTGTGCGGTGTGTGCA GTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGGTGTGTGGTGTATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGCATGT GTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
ISOC2_chr19_55447985_55466642	55449121	G G	GACCACAC others(661): Show GACCACACACCACACACACCACACACATACACCACACATGCACCACACAC ACACCACACACACCACACACACCACACACACACCACACATACACCACACA CCTCACACACATCACACAGCCCACACACCACACACTGCACACACCGCACA CACACACCAACATACCACACACCAGAGACACACACGACACACCACACACA GACCACACAGACCACACACACCACACACACACCCCACACACCACAAACAC CCCACACACTCCACACACTGCACACACCGCACACGCCGCACATGCCACAC ACACCACACACCACACACACACCACACTGCACACACTGCACACACCACAC ACCCCACATACCACATTCACACACCACACACCACACATACCACATTCACA CACCACACATACCACACACATCACACACACCACACACACCCCAGACACTG CACACACTGTACACACCACACACACCCCACACACCACACACAGTGCACAA ACCACACACCACACACACACCACACCACACCCCCCACACATAACCATACA CAGACCACACATACACACACCACACACCACACATACCACACACACCAGAT ACACACACACCACATACCACACACACATACACACCACAAGCACACCACAC ACACACAAACCACAAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0060 a0001c0003t0007g0060	1	380	0.0026	668	c.41 others(679): Show c.4186_*4187insGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCTTGT GGTGTGTATGTGTGTGTGGTATGTGGTGTGTGTGTATCTGGTGTGTGTGG TATGTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTGTATGGTTATGTGT GGGGGGTGTGGTGTGGTGTGTGTGTGGTGTGTGGTTTGTGCACTGTGTGT GGTGTGTGGGGTGTGTGTGGTGTGTACAGTGTGTGCAGTGTCTGGGGTGT GTGTGGTGTGTGTGATGTGTGTGGTATGTGTGGTGTGTGAATGTGGTATG TGTGGTGTGTGGTGTGTGAATGTGGTATGTGGGGTGTGTGGTGTGTGCAG TGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGGTGTGTGTGGCATGTGCGG CGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGTGGGGTGTTTGTGGTGTGT GGGGTGTGTGTGTGGTGTGTGTGGTCTGTGTGGTCTGTGTGTGGTGTGTC GTGTGTGTCTCTGGTGTGTGGTATGTTGGTGTGTGTGTGCGGTGTGTGCA GTGTGTGGTGTGTGGGCTGTGTGATGTGTGTGAGGTGTGTGGTGTATGTG TGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGGTGTGTGTGTGGTGCATGT GTGGTGTATGTGTGTGGTGTGTGTGGTGTGTGGT	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding		3863		chr19	TogoVar
KCNQ2_chr20_63395208_63477655	63442902	C C	CCACCACC others(661): Show CCACCACCACCATCACCATCACCACCATCACCATCACCACCACCATCACC ATCATCACCATCACCACCACCACCACCATCACCACCATTACCATCACCAT CACCATCACCATCACCACCACCATCACATCAACACCATGACCACCATCAC CACCACCAAAACCATCACCACCACCATCACCACCACCACCACCACCACCA TCACTATCACCACCATCACCATCACCACCACCACCACCACCATCACCATC ACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACCAT CACCATCACCACCATCACCATCACCACCACCACCATCACCATTACCACCA CCATTACCACCACCATCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCACCACCACCATCACCATTATCACCACCACCATCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCATCATCACCATCA CCACCACCACCACCATCACCACCATTACCATCACCATCACCACCATCACC ATCACCACCACCACCATCACCATTACCACCACCATTACCACCACCATCAC CATCACCATCACCACCACCACCACCACCACCATCATCACCACCACCATCA CCATTATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 NA18906.hp1 HG02922.hp1 HG03130.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0021 a0001c0002 a0001c0021	a0001c0002t0036 a0001c0021t0053 a0001c0002t0036 a0001c0021t0053	a0001c0002t0036g0001 a0001c0021t0053g0023 a0001c0002t0036g0001 a0001c0021t0053g0023	3	330	0.0091	668	c.691 others(683): Show c.691-372_691-371insATGGTGGTGGTGATAATGGTGATGGTGGTG GTGATGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGT GGTAATGGTGGTGGTAATGGTGATGGTGGTGGTGGTGATGGTGATGGTGG TGATGGTGATGGTAATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATG ATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGG TGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATG GTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGATGGTGATGG TGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATAGTGATGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGATGGTTTTGGTGGTGGTGATGGTGGT CATGGTGTTGATGTGATGGTGGTGGTGATGGTGATGGTGATGGTGATGGT AATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGTGG TGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(661): Show GGAAGGGAGGTGGAGGGAGAAAAAGAGAGGAGGAGGAGGAAGGAAAGAAG GAGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAG GAGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGG AGAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGG AGGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAG TGAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAA GGAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGA GGAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGG AGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAG AGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGG AAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	386	0.0026	668	c.-46 others(679): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTC TCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCC CTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCC TTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCT CATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCC TCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTC CTCCTCCTCTCTTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(661): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAA GGAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGA GGAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGG AGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAA GAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGG AGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAG AGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGG AAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	386	0.0026	668	c.-46 others(679): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTC TCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTC TCTTCTTTTCTCCCACTTCTCCCTCCTCCCCCTTCACTTCCTCCTCCTCC CCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCC CTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCC TCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCC CTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCT CCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATA others(661): Show TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATATATATATCCATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATC CATATATATATATATCCATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	284	0.0035	668	c.126 others(685): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATATGG ATATATATATATGGATATATATATATGGATATATATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104824299	T T	TATTATAT others(661): Show TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATATTATATATTATATATACAATTAT ATATATTATATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATTATATA TTATATATTATATAATATATTATATATTATATATATTATATATTATATAT TATATATTATATATATAATATATATTATATATTATATATTATATATATTA TATATATTATATATATTATATATAATATATATAATTGTATATATAATATA TAATATATAATATATATAATATATAATATATAATATATAATATATAATAT ATATAATATATAATATATTATATATAATATATAATATATAATATATATAA TATATTATATATAATATATAATATATAATATATATAATATATTATATATA ATATATAATATATAATATATATTATATATATAATATATTATATAATATAT TATATATATAATATATATTATATATTATATACAATATATTATATATTATA TACATTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01257.hp2 HG01258.hp1 HG01074.hp2 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0071	3	86	0.0349	668	c.683 others(687): Show c.683-81879_683-81878insTATATATATATTATATTATATATTAT ATATAATTATATATATTTTATATATTATATATTATATATTATATATTATA TATTATATATATTATATATTATATATTATATATTATATATATTATATATT ATATATACAATTATATATATTATATATATTATATATTATATAATATATTA TATATATAATATATATTATATATTATATATTATATAATATATTATATATA TAATATATTATATATTATATATTATATAATATATTATATATTATATATAT TATATATTATATATTATATATTATATATATAATATATATTATATATTATA TATTATATATATTATATATATTATATATATTATATATAATATATATAATT GTATATATAATATATAATATATAATATATATAATATATAATATATAATAT ATAATATATAATATATATAATATATAATATATTATATATAATATATAATA TATAATATATATAATATATTATATATAATATATAATATATAATATATATA ATATATTATATATAATATATAATATATAATATATATTATATATATAATAT ATTATATAATATATTATATATATAATATATATTATATATTATATACAATA TATTATATATTATATACATTATATATTATATACATTATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LINGO2_chr9_27932617_29218601	28189380	G G	GAAGGAAG others(661): Show GAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGA AGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAG GAAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGA AGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAGGAAG GAAGGGAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGG AGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAG GGAGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGA AGGAAGGGAGGGAGGAAGGGAGGAAGGAAGGAAGGAAGGGAGGAAGGAAG GGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGA AGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGAAAGGAAG GAAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGA AGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAG GGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGGAAGGAAGGAAGGA AGGAAGGGAGGGAGGAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	62	0.0161	668	c.-36 others(689): Show c.-36+105827_-36+105828insTCTTCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTCCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCC TTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTC CCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCC TTTCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCC TTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTCCCTTCCTTCCTT CCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTTCTTCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTC CCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCC TTCCTTCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCCTT CCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCTTCC TCCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMLN_chr3_197955217_198048720	198014390	C C	CCTTCAGA others(661): Show CCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCC CTAACTAGTCTAACTTCTCTGTATCCTTCAGAGCCCCCTAACTAGTCTGA CTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCC TTCAGAGTCCCCTTAACTAGTCTGACTTCTCTGTATCCTTCAGAGCCCCC TAACTACTCTGACTTCTCTCCACTCTTCAGAGCCCCCTAACTAGTCTGAC TTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCGT TCAGAGCCCGCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTA ACTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTACCTAGTCTGACTT CTCTCCACCCATCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTT AGAGCCCTCTAACTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTAAC TAGTCTAACTTCTCTGTATCCTTCAGAGCCCCCTAACTAGTCTGACTTCT CTCCACCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAG AGTCCCCTTAACTAGTCTGACTTCTCTGTATCCTTCAGAGCCCCCTAACT ACTCTGACTTCTCTCCACT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19003.hp2 HG00423.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0121 a0001c0001t0003g0122	2	258	0.0078	668	c.132 others(687): Show c.1320-4803_1320-4802insAACTTCTCTGTATCCTTCAGAGCCCC CTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGA CTTCTCTCCACCCTTCAGAGTCCCCTTAACTAGTCTGACTTCTCTGTATC CTTCAGAGCCCCCTAACTACTCTGACTTCTCTCCACTCTTCAGAGCCCCC TAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGAC TTCTCTCCACCGTTCAGAGCCCGCTAACTAGTCTGACTTCTCTCCACCCT TCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTA CCTAGTCTGACTTCTCTCCACCCATCAGAGCCCCCTAACTAGTCTGACTT CTCTCCACCCTTTAGAGCCCTCTAACTAGTCTGACTTCTCTCCACCCATC AGAGCCCCCTAACTAGTCTAACTTCTCTGTATCCTTCAGAGCCCCCTAAC TAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGACTTCT CTCCACCCTTCAGAGTCCCCTTAACTAGTCTGACTTCTCTGTATCCTTCA GAGCCCCCTAACTACTCTGACTTCTCTCCACTCTTCAGAGCCCCCTAACT AGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCT	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(661): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCATGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGAACACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAG TACCTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCC CAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02486.hp2 others(5): Show HG01891.hp1 HG01891.hp2 HG02486.hp2 HG02897.hp2 HG03453.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0231 a0003c0004t0007g0292 a0003c0004t0007g0294 others(5): Show a0003c0004t0007g0231 a0003c0004t0007g0292 a0003c0004t0007g0294 a0003c0004t0007g0311 a0003c0004t0007g0346 a0003c0004t0007g0411 a0003c0004t0007g0412 a0003c0004t0007g0413	8	448	0.0179	668	c.56 others(679): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCT CCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAG TAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCT CGTGTTCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGC GTGGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGT GCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(661): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAA AGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCC CAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02897.hp1 HG02922.hp2 others(3): Show HG02109.hp2 HG02897.hp1 HG02922.hp2 HG03225.hp1 HG03471.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0015 a0002c0002t0002 a0002c0002t0015	a0002c0002t0002g0209 a0002c0002t0002g0221 a0002c0002t0002g0345 others(3): Show a0002c0002t0002g0209 a0002c0002t0002g0221 a0002c0002t0002g0345 a0002c0002t0002g0416 a0002c0002t0015g0426 a0002c0002t0015g0427	6	448	0.0134	668	c.56 others(679): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCT CCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAG TAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGC GTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGT GCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(661): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA AATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAAAGT ACCTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCC CAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0353 a0002c0002t0001g0353	1	448	0.0022	668	c.56 others(679): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCT CTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGCT CCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCTCGGCTAATTTTTTTGTATTTTTAG TAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACCT CGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAG CCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTGGCCGGGC GTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGT GCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(661): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCATGCC CGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAG ACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAAT ATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCTG AGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCTC AAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGACAAA AGTACCTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTTGCC CAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTTCCTCC CAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0171 a0002c0003t0003g0171	1	448	0.0022	668	c.56 others(679): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAACT GGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGC TCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACTGAAAGC TCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTATTTTTA GTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTCCTGACC TCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGA GCCACTGCGCCTGGCGAGAACATTTTTTTTTAACAGTTAATTGGCCGGGC GTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAGGCAGGTG GATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACATGGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCATGGTGGCGGGT GCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA	LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding		4813		chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(661): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCA CGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCTGTCCCCAC TGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCATCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTC CCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCC ACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCA CTGCCACGTCCCCTGGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGT CCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCC CCGTCCCCACTGCCACAACCCCTCATCCCGTCCCCTACTGCCACATCCCA CCACCACGTCCACACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTC CACTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	264	0.0038	668	c.180 others(687): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGTGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGAT GAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGAC GGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTG GGGACGGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACGGGGCGAG GGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGA TGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CAGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGT GGGGACGGGATGAGGGGACGTGGCAGTGGGGACGTGGCAGTGGGGACGGG GCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1333885	A A	ATCCCATG others(661): Show ATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGT GCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCAT CCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCA CCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCC CATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACC CCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGC CCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCC TGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTA CCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGC ACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCACCCCCATGCCCGT GTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCC ACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGT GCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCATC CCATGCCTACCGTGCTCAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	388	0.0026	668	c.765 others(685): Show c.765+1020_765+1021insTCCCATGCCTACCGTGCTCACCCCCATG CCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCG TGTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCC ATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGT GCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCAC CCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTC ACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCC CCATGCCCGTGTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACC CCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGC CCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCC TGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCT ACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTG CACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCATCCCATGCCCGT GTGCTCACCCCTGCACCCATCCCATGCCTACCGTGCTCAC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(661): Show TCTGCTCTCCCCTCCCCCTCCCCCTCCCTCCCCCCTCCCCCTCCCCCCCT CCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCACCCCTCTCTCCCC TCCCTCTCCCCTCCCCCTCTTCCCCTCCCCTCCTCCTCTTCCTCCCCTCC TCTCTTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCCTCCGTCC CCTCCCCTCCCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCTCCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCTCCCCTCCCCTCCTCCCC CTCCCCTCCTCCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCCTCCTCCCCTCCTCCCTC CTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCCTCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCCTCCTCCCTCCCCTCCCCTCCCCTCTCCCCTCCCTC CCCTCTCCCTCTCCCCACTCCTCCCTCCCTCCCCTCCCCCTCCCTCCCTC CCTCCCTCCCCTCCTCCCTCCCCCCTCCCCTCCCCTCTCCCTCCTCCCCT CCCCTCCATCCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0036 a0002c0008t0001g0036	1	140	0.0071	668	c.114 others(687): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCCTCCCCCTCCCT CCCCCCTCCCCCTCCCCCCCTCCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCACCCCTCTCTCCCCTCCCTCTCCCCTCCCCCTCTTCCCCTCCC CTCCTCCTCTTCCTCCCCTCCTCTCTTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCCTCCGTCCCCTCCCCTCCCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCTCCCCTCCTCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCTCCCCCTCCTCCCCT CCTCCCTCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCC CTCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCTCCTCCCTCCCCTC CCCTCCCCTCTCCCCTCCCTCCCCTCTCCCTCTCCCCACTCCTCCCTCCC TCCCCTCCCCCTCCCTCCCTCCCTCCCTCCCCTCCTCCCTCCCCCCTCCC CTCCCCTCTCCCTCCTCCCCTCCCCTCCATCCCCTCCTCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTTP_chr4_99569824_99628997	99589007	A A	ATATATAT others(661): Show ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	364	0.0028	668	c.394 others(683): Show c.394-636_394-635insTATATATGTTCATATATATATTCATATATA TGTTCATATATATTCATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(661): Show ACATATATATGTTCATATATATACACACATATATATATGTTCATATATAT ACACACATATATATGTTCATATATATACACACATATATATGTTCATATAT ATATTCATATATATATGTTCATGTATATTCATATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	2	364	0.0055	668	c.394 others(683): Show c.394-586_394-585insCACACATATATATATGTTCATATATATACA CACATATATATGTTCATATATATACACACATATATATGTTCATATATATA TTCATATATATATGTTCATGTATATTCATATATATATGTTCATATATATA TTCATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATGTTCATATATATA	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(661): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0286 a0002c0002t0002g0286	1	364	0.0028	668	c.394 others(683): Show c.394-573_394-572insGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MYRIP_chr3_39804609_40265321	40084327	A A	AGATAATA others(661): Show AGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACA TCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCG ATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTA TGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAATACACATC TATGTATTATCTATCGATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	170	0.0059	668	c.332 others(687): Show c.332+40079_332+40080insCTATCGGTAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACA TCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCG ATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTA TGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAATACACATC TATGTATTATCTATCGATCGATAATACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(661): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATATATTTATATATA AATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAATATAT AAATTATATAATTTATAAATTATATAATTTATATATTATATATTATATGT TTATATTAAATATTATATATTATATATTATATATTATATATTTATATTAA ATATTATATATTTATATATTATATATAATATATTTATATTAAATATTATA TTTATATATTATATATATTTATATTAAATATATATTTATATATTATTTAT ATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAAAT ATTATATATTTATATATTATATATTTATATTAAATATTATATATTTATAT ATTATATATATTTATATTAAATATTATATATTTATATATTATATATATTT ATATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTA TATATTTATATATTATATATATTTATATTGAATATTATATATTTATATAT TATATAAATATTATATATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0037 a0003c0007t0001g0037	1	170	0.0059	668	c.166 others(687): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATATATTTATATATAAATATTTATATTTTATATATTTATATATTT TATGATTTTATAAAATATATAAATTATATAATTTATAAATTATATAATTT ATATATTATATATTATATGTTTATATTAAATATTATATATTATATATTAT ATATTATATATTTATATTAAATATTATATATTTATATATTATATATAATA TATTTATATTAAATATTATATTTATATATTATATATATTTATATTAAATA TATATTTATATATTATTTATATTTATATTAAATATTATATATTTATATAT TATATATATTTATATTAAATATTATATATTTATATATTATATATTTATAT TAAATATTATATATTTATATATTATATATATTTATATTAAATATTATATA TTTATATATTATATATATTTATATTAAATATTATATATTTATATATTATA TATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTG AATATTATATATTTATATATTATATAAATATTATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(661): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTA TGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTG TATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATAC TGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	362	0.0028	668	c.-75 others(687): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTAT ATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCA TGCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGT ATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACATACAGTATACATAC ATACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTG TACACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(661): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0009 a0009	a0009c0057 a0009c0057	a0009c0057t0029 a0009c0057t0029	a0009c0057t0029g0179 a0009c0057t0029g0179	1	324	0.0031	668	c.140 others(685): Show c.140+8240_140+8241insCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGC ACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTG CACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCC TGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PARP10_chr8_143972158_143991460	143981666	G G	GTGGTGAT others(661): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAG TGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATG GTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGA CAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0266 a0002c0002t0002g0266	1	380	0.0026	668	c.255 others(687): Show c.2556+1265_2556+1266insTCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCAT CATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACC ACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCA CTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCG TCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCAT CACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCA CCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCAC CATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(661): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	436	0.0046	668	c.-26 others(679): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTA TCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(661): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0014 a0001c0005t0001g0014	1	436	0.0023	668	c.-26 others(679): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTA TCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(661): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACA CACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCT TACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTA CACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCT TACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTA CACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCT TACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCT TACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTA CACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGT CTTACACACAGTCTTACACATGCAGTCTTACACACGCAGTCTTACACACG CAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTCTTACGGT CTTACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03834.hp2 HG03710.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0053 a0001c0001t0001 a0001c0001t0053	a0001c0001t0001g0158 a0001c0001t0053g0154 a0001c0001t0001g0158 a0001c0001t0053g0154	2	210	0.0095	668	c.38- others(683): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGG TCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAG TCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGG TCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGG TCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGG AGTCTTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTACAC ACGCAGTCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTT ACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(661): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCCCTCTCTCCCCCTCCC TCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCC TCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCC TTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTC TCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACT CTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCT TCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCC TCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTC CCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCT CTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCC CCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0044 a0001c0004t0029g0044	1	210	0.0048	668	c.439 others(687): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTC TTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTC TCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTC CTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCT CTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCC CCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCC TCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCT CTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCC CTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCT CCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130392495	C C	CATGTGTG others(661): Show CATGTGTGTGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGT CACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCAGTCACCGTCATCATGTGTGTGCATCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACTGTCATCACATGTGTGCGTCAGTTACC TGGTGAATACTGAATGTTGTGATGACCCAGTCTCCATCATCACGTGTTTG TGTCAGTTACCTGGTGAATATTCGGTGTGATGACCCAGTCACCATCATCA CATGTGTCCGTCAGTCACCTGGTGAATACTGAATGTTGTGATGACCCAGT CACCGTCATCATGTGGGTGCATCAGTCACCTGGTGAATATTGAATGTTGT GATGACTCAGTCACCGTCATCACGTGTGTGCGTCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGTTA CCTGGTGAATATTGAATGTTGTGATGACCCAATCACCATCATCACGTGTG TCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGACCCAGTCACCAT CATCACGTGTGTCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGAC CCAGTCACCATCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03225.hp2 HG03195.hp2 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0018 a0001c0004 a0006c0018	a0001c0004t0007 a0006c0018t0001 a0001c0004t0007 a0006c0018t0001	a0001c0004t0007g0053 a0006c0018t0001g0052 a0001c0004t0007g0053 a0006c0018t0001g0052	2	180	0.0111	668	c.48 others(679): Show c.4865_*4866insACGTGATGATGGTGACTGGGTCATCACAACATTC AATATTCAACAGGTAACTGACGGACACACGTGATGATGGTGACTGGGTCA TCACAACATTCAATATTCAACAGGTAACTGACGGACACACGTGATGATGG TGATTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACA CGTGATGATGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAAC TGACGCACACACGTGATGACGGTGACTGAGTCATCACAACATTCAATATT CACCAGGTGACTGATGCACCCACATGATGACGGTGACTGGGTCATCACAA CATTCAGTATTCACCAGGTGACTGACGGACACATGTGATGATGGTGACTG GGTCATCACACCGAATATTCACCAGGTAACTGACACAAACACGTGATGAT GGAGACTGGGTCATCACAACATTCAGTATTCACCAGGTAACTGACGCACA CATGTGATGACAGTGACCGGGTCATCACAACATTCAATATTCACCAGGTA ACTGATGCACACACATGATGACGGTGACTGGGTCATCACAACATTCAATA TTCACCAGGTAACTGACGGACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACACACACAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3637		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392495	C C	CATGTGTG others(661): Show CATGTGTGTGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGT CACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCAGTCACCGTCATCATGTGTGTGCATCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACTGTCATCACATGTGTGCGTCAGTTACC TGGTGAATACTGAATGTTGTGATGACCCAGTCTCCATCATCACGTGTTTG TGTCAGTTACCTGGTGAATATTCGGTGTGATGACCCAGTCACCGTCATCA CATGTGTCCGTCAGTCACCTGGTGAATACTGAATGTTGTGATGACCCAGT CACCGTCATCATGTGGGTGCATCAGTCACCTGGTGAATATTGAATGTTGT GATGACTCAGTCACCGTCATCACGTGTGTGCGTCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGTTA CCTGGTGAATATTGAATGTTGTGATGACCCAATCACCATCATCACGTGTG TCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGACCCAGTCACCAT CATCACGTGTGTCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGAC CCAGTCACCATCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00741.hp1 others(37): Show HG00280.hp2 HG00642.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01981.hp2 HG02083.hp1 HG02148.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp1 NA18950.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA20752.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0019	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0027 a0001c0028 a0002c0009 a0006c0018 a0019c0038	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0027t0001 a0001c0028t0001 a0002c0009t0001 a0006c0018t0001 a0019c0038t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(37): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0005g0006 a0001c0001t0005g0078 a0001c0002t0001g0021 a0001c0002t0001g0036 a0001c0002t0001g0051 a0001c0002t0001g0162 a0001c0002t0001g0177 a0001c0003t0001g0048 a0001c0003t0001g0077 a0001c0003t0001g0116 a0001c0003t0001g0142 a0001c0003t0001g0154 a0001c0004t0001g0004 a0001c0005t0001g0045 a0001c0005t0001g0085 a0001c0005t0001g0111 a0001c0006t0001g0009 a0001c0006t0001g0075 a0001c0006t0001g0076 a0001c0007t0001g0038 a0001c0007t0001g0149 a0001c0008t0001g0070 a0001c0008t0001g0134 a0001c0008t0001g0143 a0001c0027t0001g0057 a0001c0028t0001g0114 a0002c0009t0001g0147 a0006c0018t0001g0059 a0019c0038t0001g0090	40	180	0.2222	668	c.48 others(679): Show c.4865_*4866insACGTGATGATGGTGACTGGGTCATCACAACATTC AATATTCAACAGGTAACTGACGGACACACGTGATGATGGTGACTGGGTCA TCACAACATTCAATATTCAACAGGTAACTGACGGACACACGTGATGATGG TGATTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACA CGTGATGATGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAAC TGACGCACACACGTGATGACGGTGACTGAGTCATCACAACATTCAATATT CACCAGGTGACTGATGCACCCACATGATGACGGTGACTGGGTCATCACAA CATTCAGTATTCACCAGGTGACTGACGGACACATGTGATGACGGTGACTG GGTCATCACACCGAATATTCACCAGGTAACTGACACAAACACGTGATGAT GGAGACTGGGTCATCACAACATTCAGTATTCACCAGGTAACTGACGCACA CATGTGATGACAGTGACCGGGTCATCACAACATTCAATATTCACCAGGTA ACTGATGCACACACATGATGACGGTGACTGGGTCATCACAACATTCAATA TTCACCAGGTAACTGACGGACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACACACACAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3637		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392495	C C	CATGTGTG others(661): Show CATGTGTGTGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGT CACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCAGTCACCGTCATCATGTGTGTGCATCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACTGTCATCACATGTGTGCGTCAGTTACC TGGTGAATACTGAATGTTGTGATGACCCAGTCTCCATCATCACGTGTTTG TGTCAGTTACCTGGTGAATATTCGGTGTGATGACCCAGTCACCGTCATCA CATGTGTCCGTCAGTCACCTGGTGAATACTGAATGTTGTGATGACCCAGT CACCGTCATCATGTGGGTGCATCAGTCACCTGGTGAATATTGAATGTTGT GATGACTCAGTCACCGTCATCACGTGTGTGCGTCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGTTA CCTGTTGAATATTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTG TCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGACCCAGTCACCAT CATCACGTGTGTCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGAC CCAGTCACCATCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	180	0.0056	668	c.48 others(679): Show c.4865_*4866insACGTGATGATGGTGACTGGGTCATCACAACATTC AATATTCAACAGGTAACTGACGGACACACGTGATGATGGTGACTGGGTCA TCACAACATTCAATATTCAACAGGTAACTGACGGACACACGTGATGATGG TGACTGGGTCATCACAACATTCAATATTCAACAGGTAACTGACGGACACA CGTGATGATGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAAC TGACGCACACACGTGATGACGGTGACTGAGTCATCACAACATTCAATATT CACCAGGTGACTGATGCACCCACATGATGACGGTGACTGGGTCATCACAA CATTCAGTATTCACCAGGTGACTGACGGACACATGTGATGACGGTGACTG GGTCATCACACCGAATATTCACCAGGTAACTGACACAAACACGTGATGAT GGAGACTGGGTCATCACAACATTCAGTATTCACCAGGTAACTGACGCACA CATGTGATGACAGTGACCGGGTCATCACAACATTCAATATTCACCAGGTA ACTGATGCACACACATGATGACGGTGACTGGGTCATCACAACATTCAATA TTCACCAGGTAACTGACGGACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACACACACAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3637		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392495	C C	CATGTGTG others(661): Show CATGTGTGTGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGT CACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCAGTCACCGTCATCATGTGTGTGCATCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACTGTCATCACATGTGTGCGTCAGTTACC TGGTGAATACTGAATGTTGTGATGACCCAGTCTCCATCATCACGTGTTTG TGTCAGTTACCTGGTGAATATTCGGTGTGATGACCCAGTCACCGTCATCA CATGTGTCCGTCAGTCACCTGGTGAATACTGAATGTTGTGATGACCCAGT CACCGTCATCATGTGGGTGCATCAGTCACCTGGTGAATATTGAATGTTGT GATGACTCAGTCACCGTCATCACGTGTGTGCGTCCGTTACCTGGTGAATA TTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGTTA CCTGGTGAATATTGAATGTTGTGATGACCCAATCACCATCATCACGTGTG TCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGACCCAGTCACCAT CATCACGTGTGTCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGAC CCAGTCACCATCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	180	0.0056	668	c.48 others(679): Show c.4865_*4866insACGTGATGATGGTGACTGGGTCATCACAACATTC AATATTCAACAGGTAACTGACGGACACACGTGATGATGGTGACTGGGTCA TCACAACATTCAATATTCAACAGGTAACTGACGGACACACGTGATGATGG TGATTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACA CGTGATGATGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAAC GGACGCACACACGTGATGACGGTGACTGAGTCATCACAACATTCAATATT CACCAGGTGACTGATGCACCCACATGATGACGGTGACTGGGTCATCACAA CATTCAGTATTCACCAGGTGACTGACGGACACATGTGATGACGGTGACTG GGTCATCACACCGAATATTCACCAGGTAACTGACACAAACACGTGATGAT GGAGACTGGGTCATCACAACATTCAGTATTCACCAGGTAACTGACGCACA CATGTGATGACAGTGACCGGGTCATCACAACATTCAATATTCACCAGGTA ACTGATGCACACACATGATGACGGTGACTGGGTCATCACAACATTCAATA TTCACCAGGTAACTGACGGACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACACACACAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3637		chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130392495	C C	CATGTGTG others(661): Show CATGTGTGTGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCAGT CACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGA TGACCCAGTCACCGTCATCATGTGTGTGCATCAGTTACCTGGTGAATATT GAATGTTGTGATGACCCGGTCACTGTCATCACATGTGTGCGTCAGTTACC TGGTGAATACTGAATGTTGTGATGACCCAGTCTCCATCATCATGTGTTTG TGTCAGTTACCTGGTGAATATTCGGTGTGATGACCCAGTCACCGTCATCA CATGTGTCCGTCAGTCACCTGGTGAATACTGAATGTTGTGATGACCCAGT CACCGTCATCATGTGGGTGCATCAGTCACCTGGTGAATATTGAATGTTGT GATGACTCAGTCACCGTCATCACGTGTGTGCGTCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCAGTCACCATCATCACGTGTGTCCGTCAGTTA CCTGGTGAATATTGAATGTTGTGATGACCCAATCACCATCATCACGTGTG TCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGACCCAGTCACCAT CATCACGTGTGTCCGTCAGTTACCTGTTGAATATTGAATGTTGTGATGAC CCAGTCACCATCATCACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	180	0.0056	668	c.48 others(679): Show c.4865_*4866insACGTGATGATGGTGACTGGGTCATCACAACATTC AATATTCAACAGGTAACTGACGGACACACGTGATGATGGTGACTGGGTCA TCACAACATTCAATATTCAACAGGTAACTGACGGACACACGTGATGATGG TGATTGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACA CGTGATGATGGTGACTGGGTCATCACAACATTCAATATTCACCAGGTAAC TGACGCACACACGTGATGACGGTGACTGAGTCATCACAACATTCAATATT CACCAGGTGACTGATGCACCCACATGATGACGGTGACTGGGTCATCACAA CATTCAGTATTCACCAGGTGACTGACGGACACATGTGATGACGGTGACTG GGTCATCACACCGAATATTCACCAGGTAACTGACACAAACACATGATGAT GGAGACTGGGTCATCACAACATTCAGTATTCACCAGGTAACTGACGCACA CATGTGATGACAGTGACCGGGTCATCACAACATTCAATATTCACCAGGTA ACTGATGCACACACATGATGACGGTGACTGGGTCATCACAACATTCAATA TTCACCAGGTAACTGACGGACACGTGATGACGGTGACTGGGTCATCACAA CATTCAATATTCACCAGGTAACTGACACACACAT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3637		chr12	TogoVar

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Search Results (Total: 10000 hits)