JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
GTPBP6_chrX_299759_323796	315827	C C	CACACACA others(704): Show CACACACACACACACTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAA CACATACACACGCAGACACACACACACACACAAACACACAGTAAATACAT CCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGACAC ACACAAACACAGTAAACACATGCTGGCAGGGACACAAACACATACACACG CAGACACACACACACACACAGTAAATACATCCCGACAGGGACAGACACAC ACACACACAGACACATACACAGAGACACACACAAACACAGTAAACACATC CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA CACACACTAAATACATCCCGACAGGGACAGACACAGACACACACACAGAG ACACACACAAACACAGTAAACACATCCCAGCAGGGACACAAACACATACA CACGCAGACACACACACACACACACAAACAGTAAATACATCCCGACAGGG ACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACATC CCGGCAGGGACACAAACACATACACACGCAGACACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACAGACACACACACAG AGACACACACAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	155	0.0065	711	c.488 others(726): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTGTCTGTGT CTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTT ACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC TGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT GTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGTG TCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGATGTGTTTACTGTGTTT GTGTGTGTCTCTGTGTATGTGTCTGTGTGTGTGTGTGTCTGTCCCTGTCG GGATGTATTTACTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTG TCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTCT CTGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT TGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCTGGGA TGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCC CTGTCGGGATGTATTTAGTGTGTGTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	323558	G G	GTGTGTGT others(704): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCT CCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAG GTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTC AGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATG AGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGT GTGTGTGTTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCG TCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTC AGGGACGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCA ATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGA GGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGT TCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGT GTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGG TTCCGTCTGCCCTGTTCATAGAGACGGAATGAGGGCGTCCCCAGGTGGTG AGCTCAGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0090 a0003c0004t0002g0090	1	155	0.0065	711	c.-47 others(722): Show c.-4772_-4771insTGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACGTCCCTGAGCTCACCACC TGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGA GCCCAGGAGATTGACGGCTACACACACACACACACACACACACACACACG TCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGG GCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACACACACAC ACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGGGACGCC CTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGA CTGACGGCTACACACACACAACACACACACACACACACACACACAAACGT CCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGG CAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACACA CACACACACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATC TCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTAC ACACACACACACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4763		chrX	TogoVar
HBQ1_chr16_175459_186179	186102	G G	GGAGGAAC others(704): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCAACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	711	c.49 others(722): Show c.4994_*4995insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGG GAACAGCAACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACA GCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4924		chr16	TogoVar
HCN2_chr19_584881_622159	602222	C C	CCCTCCTC others(704): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCAC TCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGATGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0008 a0001c0020t0008	a0001c0020t0008g0010 a0001c0020t0008g0010	1	408	0.0025	711	c.633 others(728): Show c.633-1097_633-1096insCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTCCTGCGTGGATGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCC TGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT TCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(704): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCC TGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT TCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0004 a0001c0026t0004	a0001c0026t0004g0051 a0001c0026t0004g0051	1	408	0.0025	711	c.633 others(728): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCT CTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC CTGCGTGGACGCCCCACTTCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HLA-DRB1_chr6_32573775_32594848	32587399	A A	AAATAAAT others(704): Show AAATAAATTGAATATAAATTGACTCTCCTTGTAACCATACAGTAGCTTCT CGTATCTATTTAAATAAAATTCAGTCCGGCCGCGGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATTATCTGAGGTCAGGAG TTCGAGACCAGCATGGTCAACATGGTGATACCCCATGTCTACTAAAAATA CAAAAAAATAAAAATTAGCCAGGTATGGTGGTGGGTGCCTGTAATCTCAG ATACTTGGGAAGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGAAGG TTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAA CGAAACTCCGTCTCAAAAAAAAAAAAATAGGCCAGGCGTGGTGGCTCACA CCTGTAGTCTCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCA GGAGATGGAGACCACCCTGGCTAACATGACGAAATGCCCTCACTACTAAA AATACTAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTA CTAGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGCTTG CAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGCGAG ACTCCATCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAATA AATAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0028 a0028	a0028c0031 a0028c0031	a0028c0031t0003 a0028c0031t0003	a0028c0031t0003g0050 a0028c0031t0003g0050	1	208	0.0048	711	c.100 others(728): Show c.100+2243_100+2244insATTTTATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTTTTGAGATGGAGTCTCGCTTTGTTGCCCA GGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCACCTCCTG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGG CACCCGCCACCACACCTGGCTAATTTTTAGTATTTTTAGTAGTGAGGGCA TTTCGTCATGTTAGCCAGGGTGGTCTCCATCTCCTGACCTCGTGATCCAC CTGCCTCGGCCTCCCAAAGTGCTGAGACTACAGGTGTGAGCCACCACGCC TGGCCTATTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTGTTGCCCAGGC TGGAGTGCAATGGTGCAATCTCGGCTCACTGCAACCTTCGCCTCCCTGGT TCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTATCTGAGATTACAGGCAC CCACCACCATACCTGGCTAATTTTTATTTTTTTGTATTTTTAGTAGACAT GGGGTATCACCATGTTGACCATGCTGGTCTCGAACTCCTGACCTCAGATA ATCTGTCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC CGCGGCCGGACTGAATTTTATTTAAATAGATACGAGAAGCTACTGTATGG TTACAAGGAGAGTCAATTTATATTCAATTTATT	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding	1/5			chr6	TogoVar
HPCAL1_chr2_10297904_10432604	10399408	A A	ACCATCAC others(704): Show ACCATCACCATCATCACCACCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCA CCACCACCACCATCACCGCCACCACCACCACCATCACCGCCACCACCACC ACCATCACCGCCACCACCACCACCATCACCGCCACCACCACCACCACCAT CACCACCACCACCATCACCATCATCACCACCACCACCACCACCGCCACCA CCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCGCCACC ATCACCGCCACCACCGCCACCACCACCGCCACCACCGCCACCATCACCAC CACCACCATCACCATCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCGCCACCACCACCACC ATCACCACCGCCACCATCACCATCATCACCACCACCACCACCACCATCAC CACCACCATCACCACCATCACCACCACCATCACCACCGCCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCATCACC ACCACCATCATCACCACCATCACCACCACCATCATCACCACCATCATCAC CACCATCACCACCACCATCACCACCACCATCATCACCACCATCACCACCA CCACCATCGCCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	314	0.0032	711	c.-25 others(728): Show c.-25+2491_-25+2492insTCACCATCATCACCACCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCACCGCCACCA CCACCACCATCACCGCCACCACCACCACCATCACCGCCACCACCACCACC ATCACCGCCACCACCACCACCATCACCGCCACCACCACCACCATCACCGC CACCACCACCACCACCATCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCGCCACCACCACCACCACCACCGCCACCACCACCACCATC ACCGCCACCACCGCCACCATCACCGCCACCACCGCCACCACCACCGCCAC CACCGCCACCATCACCACCACCACCATCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCATCACCACCACCACCACCATCACC ACCGCCACCACCACCACCATCACCACCGCCACCATCACCATCATCACCAC CACCACCACCACCATCACCACCACCATCACCACCATCACCACCACCATCA CCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCAT CATCACCACCATCATCACCACCATCACCACCACCATCACCACCACCATCA TCACCACCATCACCACCACCACCATCGCCGCCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(704): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	323	0.0031	711	c.-36 others(722): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(704): Show CATATATGTATATATGTTCCATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGGAACCAA TACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATAT ATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	323	0.0031	711	c.-36 others(722): Show c.-3670_-3669insATATATGTATATATGTTCCATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGGAACCAATACATACATGGAACATATATATGTGGAACCAATAC ATACATGGAACATATATATGTGGAACCAATACATACATGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATG TGGAACCAATACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132172970	T T	TCTCCCTT others(704): Show TCTCCCTTCCCTCTCTCTCCTTCCCTCTCTCTCTCTCCTCTCCTTCCCTC TCCCTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTC CCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTACC TCTCTCTCTCTCCCCCTCTCCTTCCCGCTCTCTCTCTCTCCCCCTCTCCT TCCCTCTCTCTCTCCCTCGTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCT CTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTTCCTTC CCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCTTC CCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCGTCCCCCTCTCCTT CCCTCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCC TTCCCTCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCT CCCCCTCTCCTTCCCTCTCTCCCTCCCCATCTCCTTCCCTCTCTCCCTCT CCCCCTCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCC TTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCC CCCTCTCCCTCCCGCTCTCTCCCTCTCCCGCCCGCTCTCTCCCTCTCCCT CCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0153 a0001c0006t0025g0153	1	158	0.0063	711	c.11 others(732): Show c.1103+3940_*1103+3941insCCTTCCCTCTCTCTCCTTCCCTCT CTCTCTCTCCTCTCCTTCCCTCTCCCTCCCTCTCTCTCTCCCTCTCCTTC CCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTC TCTCTCTCCCCCTCTCCTTACCTCTCTCTCTCTCCCCCTCTCCTTCCCGC TCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCTCGTCCTTCCCT CTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCT CTCTCTCTCCCCCTCTTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTC TCTCTCTCCCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCC TCTCTCTCGTCCCCCTCTCCTTCCCTCTCTCTCTCTCTCCCCCTCTCCTT CCCTCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCTTCCCCCTCTCCTTCC CCCTCTCCTTCCCCCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCCTCCCC ATCTCCTTCCCTCTCTCCCTCTCCCCCTCTCCTTCCCTCTCTCTCCCTCT CCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCCTTCCCTCTCT CTCTCCCCTTCCCTCTCTCTCCCCCTCTCCCTCCCGCTCTCTCCCTCTCC CGCCCGCTCTCTCCCTCTCCCTCCCTCTCCCTCCCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(704): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	711	c.-27 others(722): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(704): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCACTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18982.hp1 NA19068.hp1 others(1): Show NA18955.hp1 NA18982.hp1 NA19068.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	4	370	0.0108	711	c.-27 others(722): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAA GGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409037	C C	CCTCCTCT others(704): Show CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCTCTCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCTCTCTCCTCTCCCTCTCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCCTCTCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0002 a0007c0006t0002	a0007c0006t0002g0025 a0007c0006t0002g0025	1	370	0.0027	711	c.-27 others(722): Show c.-2761_-2760insTGAGGGAGAGGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGAGAGGGAGAGGAGAG AGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGAGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2703		chr12	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(704): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATATTATTTATATATAT ATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	260	0.0039	711	c.125 others(728): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATTTATATATATATTTATATATATATTTATA TATATATTATTTATATATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124506780	G G	GAGGATTT others(704): Show GAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGG AGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGCGGGTAGGGA GGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAG GATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAG GATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGG ATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTT CAGGTGGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGG TCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGT GGGGGGGTAGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	260	0.0039	711	c.624 others(728): Show c.624+8664_624+8665insCGGGGGGTAGACAGGATTTCAGGTGAGG GGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGAGGC GGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTGAGGGG GGTAGGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGAGGGGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTGAGGGGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAG GGAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAGG ATTTCAGGTGGGGGGGTAGACAGGATTTCAGGT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124610422	A A	AGGGTGAG others(704): Show AGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGT GGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGC GGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTG GAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCG GGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGG AGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGG GTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGA GCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGG TGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGT GAGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGTGAGGG TGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAGGT GAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGAGC GGGTGAGGGTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	260	0.0039	711	c.717 others(728): Show c.717-2828_717-2827insGTGGAGCGGGTGAGGGTGCGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGG GTGCGGGTGAGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGAGGGTGAG GGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTGACGGAGCGGGTGAGGG TGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGGTGCAG GTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTGATGGA GCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGCGGGTGCGGG TGCAGGTGAGGGTGCTGATGGAGCGGGCGAGGGTGAGGGTGAGGGTGCTG ATGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	CGAGCAGC others(704): Show CGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	711	c.-42 others(721): Show c.-4291delTinsCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCT AGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCG CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCC CACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCAC ACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCG	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4158		chr8	TogoVar
MICAL3_chr22_17782649_18029561	17876865	G G	GGGAGGTT others(704): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAG TTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTA TGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAT GGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGT TAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0018 a0001c0046t0018	a0001c0046t0018g0174 a0001c0046t0018g0174	1	274	0.0037	711	c.224 others(730): Show c.2242-4843_2242-4842insATAACTTCCCTAACCTCCATAACCTC CATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC CTAACCTCCATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAAC TTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACC TCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCT CCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCC TAACCTCCCTAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877387	T T	TGGAGGTT others(704): Show TGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAA GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGT TATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGG AGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTAGGGAGCTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTAT GAAGGTTAGGGAGGTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGT TAGGGAGGTTAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0274 a0001c0002t0037g0274	1	274	0.0037	711	c.224 others(730): Show c.2242-5365_2242-5364insGTAACCTCCCTAACCTTCATAACCTC CCTAACCTCCATAACTTCTCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAAC CTCCATAACTTCTCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACC TCCCTAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTA ACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAAGCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACTTCCCTAACCTCCCTAACCTCCATAACTTCTCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877558	T T	TGGAGGTT others(704): Show TGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TTATGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGA GGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA GTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	274	0.0037	711	c.224 others(730): Show c.2242-5536_2242-5535insCTCACCTCCATAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCT CACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTC CATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCATAACCTCCATAACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(704): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCC TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGAC AGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGAT CTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG01243.hp2 others(23): Show HG00673.hp2 HG01109.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA18963.hp1 NA18980.hp2 NA18981.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0029 a0001c0001t0035 a0001c0001t0063	a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0049 others(14): Show a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0049 a0001c0001t0002g0106 a0001c0001t0002g0176 a0001c0001t0002g0182 a0001c0001t0002g0206 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0003g0002 a0001c0001t0003g0196 a0001c0001t0003g0231 a0001c0001t0014g0229 a0001c0001t0029g0032 a0001c0001t0035g0194 a0001c0001t0035g0203 a0001c0001t0063g0204	26	418	0.0622	711	c.23 others(722): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTG GCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAG TCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGC CTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCC AGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTT TTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCAT GCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(704): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCC TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGAC AGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGAT CTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	418	0.0024	711	c.23 others(722): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCAT GCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(704): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCC TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGAC AGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGAT CTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00741.hp2 others(26): Show HG00099.hp1 HG00323.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01358.hp1 HG01928.hp1 HG01975.hp2 HG01981.hp1 HG02129.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02976.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp2 NA18969.hp1 NA18990.hp1 NA18997.hp1 NA18997.hp2 NA19088.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0021 a0001c0001t0031 a0001c0001t0075 a0001c0001t0076 a0001c0004t0003 a0002c0002t0003	a0001c0001t0002g0004 a0001c0001t0003g0002 a0001c0001t0005g0007 others(14): Show a0001c0001t0002g0004 a0001c0001t0003g0002 a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0025 a0001c0001t0005g0147 a0001c0001t0007g0012 a0001c0001t0007g0155 a0001c0001t0007g0160 a0001c0001t0007g0161 a0001c0001t0021g0045 a0001c0001t0021g0221 a0001c0001t0031g0041 a0001c0001t0075g0154 a0001c0001t0076g0157 a0001c0004t0003g0209 a0002c0002t0003g0072	29	418	0.0694	711	c.23 others(722): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCAT GCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(704): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCA CAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCT CTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATC CCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAG GTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATA GAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCC CTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAA GAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCC TCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATT ACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGAC AGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGAT CTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	418	0.0024	711	c.23 others(722): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCAT GCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(704): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATATAAATATAAATATATAAATATATATATATAATTAT ATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATA TTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAA ATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGT TTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0297 a0001c0001t0023g0297	1	312	0.0032	711	c.293 others(730): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATATAAATATAAATATATAAATATATATATATAATTATATATATATAT TTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTT CTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAATAT ATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATA TGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(704): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATATAAATATAAATATATAAATATATATATATAATTAT ATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATA TTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATGTTTATATAA ATATAAATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGT TTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0194 a0001c0001t0001g0195	2	312	0.0064	711	c.293 others(730): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATATAAATATAAATATATAAATATATATATATAATTATATATATATAT TTAGGTCCTCTGGTTTTGGTTTTTTTTATATATATATATATTTAGGTCTT CTGGTTTTGGTTTTATATATATATTTATATGTTTATATAAATATAAATAT ATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATA TGTATATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(704): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCACTAGGATGGAGTGG AGGGGGCTGGGAAGGCATCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGA AGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18971.hp2 HG02056.hp1 NA18971.hp2	a0010 a0158 a0010 a0158	a0010c0005 a0158c0084 a0010c0005 a0158c0084	a0010c0005t0001 a0158c0084t0001 a0010c0005t0001 a0158c0084t0001	a0010c0005t0001g0064 a0158c0084t0001g0136 a0010c0005t0001g0064 a0158c0084t0001g0136	2	249	0.0080	711	c.148 others(730): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGATGCCTTCCCAGCCCCCTCCACTCCATCCTAG TGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCT TCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG CGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCT TCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTC CATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAG CGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTT CCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGC GCTGGACGCCTTCCAAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCG CTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(704): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCT TTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTC TCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCT CCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT TCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCTTTTGCC TCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTCTCCTTC CCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCCTC TTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTC CCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	223	0.0045	711	c.289 others(728): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCC TCTCCCCTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCC CTCCTCTTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCT CCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCC CTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTC TTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCT CTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NOTCH1_chr9_136489433_136551048	136535730	A A	AGGGGGGA others(704): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0270 a0001c0004t0010g0270	1	324	0.0031	711	c.140 others(728): Show c.140+8293_140+8294insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATT GCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTC ATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535841	T T	TCACTCAG others(704): Show TCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGA GGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGG TGGGAGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGAGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCGGGG CAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCA GGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGG AGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGG GAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGGGGGG AGCACTCAGGATCCCTCCCAGGAGCAACGGGTACAGGGTGGGTGGAGGGG GGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGTGGGT GGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGG TGGAGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp1 HG01993.hp1 others(2): Show HG00280.hp2 HG01361.hp1 HG01993.hp1 HG02602.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0006 a0001c0009t0002 a0001c0002t0006 a0001c0009t0002	a0001c0002t0006g0040 a0001c0009t0002g0042 a0001c0009t0002g0048 others(2): Show a0001c0002t0006g0040 a0001c0009t0002g0042 a0001c0009t0002g0048 a0001c0009t0002g0129 a0001c0009t0002g0144	5	324	0.0154	711	c.140 others(728): Show c.140+8182_140+8183insCTCCCCTCTCCACCCACCCTGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTG CACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCT GTACCCGTTGCTCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCAT GCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCC TGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACT CCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTC CACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCT CCACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCT CCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCT GAGTGATCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGGGAG GGATCCTGAGTGATCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCC CCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACC CATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACC CTGCACCCATTGCCCCGGGAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTACT others(704): Show CTTGTACTACAGTATAGTATACTATACTACAGTATAGTATACTATACTAC AGTATAGTATACTATACTACAGTATAGTATACTATACTACAGTATAGTAT ACTATACTACAGTATAGTATACTATACTACAGTATAGTATACTATACTAT ACTACAGTATAGTATACTATACTACAGTATAGTATACTATACTATACTAC AGTATAGTATACTATACTATACTACAGTATAGTATACTATACTATACTAC AGTATAGTATACTATACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATACTATACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATAGTCTACTATACTACAGTATAGTATAGTCTACTATACTAC AGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0098 a0005c0006t0011g0098	1	318	0.0031	711	c.-27 others(730): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTAGACTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTATAGTATACTATACTGTAGTATAGTAGAC TATACTATACTGTAGTATAGTATAGTATACTATACTGTAGTATAGTATAG TATACTATACTGTAGTATAGTATAGTATACTATACTGTAGTATAGTATAG TATACTATACTGTAGTATAGTATACTATACTGTAGTATAGTATAGTATAC TATACTGTAGTATAGTATACTATACTGTAGTATAGTATACTATACTGTAG TATAGTATACTATACTGTAGTATAGTATACTATACTGTAGTATAGTATAC TATACTGTAGTATAGTATACTATACTGTAGTACAA	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4			chr17	TogoVar
PARP10_chr8_143972158_143991460	143981512	G G	GTGATGAT others(704): Show GTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGT GATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATG ATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GATGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATG GTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGA CAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGA AGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	380	0.0026	711	c.255 others(730): Show c.2556+1419_2556+1420insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCA CCTTCACCACTCACTGTCGTCACCACCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCT TCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCAC CATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTG TCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCAC CATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACC ACCTTCACCACTCACTGTCGTCACCACCATCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(704): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGG TGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAG TGGGGATGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATG GTGATGGTGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGA TGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGAT TGTTGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTG ATGGTGATGGTGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGG TGATGGTGACTGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTG ACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTG GTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACA GTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0210 a0002c0002t0003g0210	1	380	0.0026	711	c.255 others(730): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCACCACCTTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(704): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTAATACATATATAACATGTATTACATA TATGTAATACATATATAACATGTATTACATATATGTAATACATATATAAC ATGTATTACATATATGTAATACATATATAACATGTATTACATATATGTAA TACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	400	0.0025	711	c.70 others(722): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTAATACATATAT AACATGTATTACATATATGTAATACATATATAACATGTATTACATATATG TAATACATATATAACATGTATTACATATATGTAATACATATATAACATGT ATTACATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCA others(704): Show CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCC ACCCACTGCCCAGATACGGACCCCCCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCA CTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCGCCCA CTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCGGCC CACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACC CCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTG CCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	292	0.0034	711	c.471 others(726): Show c.471+312_471+313insACCCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCC CCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCCACCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACT GCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGAC CCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGC CCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCC CCCCCGCCCACTGCCCAGATACGGACCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909801	A A	ACCCACTG others(704): Show ACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGAC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCC CCCCCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCGCCCACT GCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCA CCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCG GCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGG ACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCA GATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTG CTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATACGGACCCCCCC CCGCCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACG GACCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	292	0.0034	711	c.471 others(726): Show c.471+337_471+338insCCCCCCACCCACTGCCCAGATACGGACCCC CCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACG GACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCCCCACCCACTGC CCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCCACCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGG ACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCCGCCCACTGCC CAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCC ACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCC ACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACC CCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGAT ACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTT CCCAAATATGGACCTGGCCCACCCACTGCCCAGATACGGACCCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGAC CCCCCCCCGCCCACTGCCCAGATACGGACCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(704): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCACCACCATCACTACCATA ACCACCATCACCATCATCACCATCATTACCATCATCATCACCATCACCAC CACCATCATCACCATAACCACCACCACCATCACCATAACCATCACCACCA TCATCACCATCACCACTACCGTCACCATCACCACCACCATCACTACCATC ACCATCACCACCACCATTATCACCATCACCACCATCATCACCACCATCAC CACCATCATCACCATCACCACCACCATCACGATTATCACCATCACCGCCA TCATTACCACCATCATCACCATCACCACCACCATCACCACCGCCACCATC ATCACCACCACCACCATCACCAGCGCCACCACCACCATCACCATCACCAC CACCACCATCACCATCGCCACCATCATCACCATTATCATCACCATTGTCA CCATTATCACCATCATCACCATTATCACCATTATCCTCACCATCACCACC ATCACCATCACA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	300	0.0033	711	c.120 others(730): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGGTGGCGGTGG TGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTG ATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGAT GATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGG TGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTT ATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGGTGATGGTGAT GATGATGGTAATGATGGTGATGATGGTGATGGTGGTTATGGTAGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTG GTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGTGATGGTGTTGGTTA TGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGATGATGATGGTGGTG GTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(704): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCATCACCACCACCATCACTACCATAACC ACCATCACCATCATCACCATCATTACCATCATCATCACCATCACCACCAC CATCATCACCATAACCACCACCACCATCACCATAACCATCACCACCATCA TCACCATCACCACTACCGTCACCATCACCACCACCATCACTACCATCACC ATCACCACCACCATTATCACCATCACCACCATCATCACCACCATCACCAC CATCATCACCATCACCACCACCATCACGATTATCACCATCACCGCCATCA TTACCACCATCATCACCATCACCACCACCATCACCACCGCCACCATCATC ATCACCACCACCACCATCACCAGCGCCACCACCACCATCACCATCACCAC CACCACCATCACCATCGCCACCATCATCACCATTATCATCACCATTGTCA CCATTATCACCATCATCACCATTATCACCATTATCCTCACCATCACCACC ATCACCATCACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	300	0.0033	711	c.120 others(730): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGCGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGGTGATGGT GATGATGATGGTAATGATGGTGATGATGGTGATGGTGGTTATGGTAGTGA TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTG GTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGTGATGGTGTTGGTTA TGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGATGATGATGGTGGTG GTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2123906	C C	CTGTAGTT others(704): Show CTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTC ATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGT GGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	286	0.0035	711	c.335 others(730): Show c.335-11356_335-11355insTGTAGTTAGGGTCATGGCTGTAGTTA GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133749	T T	TCTCTCCA others(704): Show TCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTCCCCTCTCTCCCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCT GTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT TCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCCCTCCCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTTCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	227	0.0044	711	c.23 others(722): Show c.2317_*2318insCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACC TCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCC ACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCT GTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCC TCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTTCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2037		chr19	TogoVar
RBPMS_chr8_30379541_30577256	30388444	C C	CTATAGCT others(704): Show CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAAGCTAACTTATAACTTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	304	0.0033	711	c.66+ others(726): Show c.66+3352_66+3353insAGCTAACTTATAACTTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF168_chr3_196463783_196508768	196478998	C C	CGCCTGGC others(704): Show CGCCTGGCCATTATTTTATTTATTTTTTTTTGAGACGGCGTCTCACTCTA TTGCCCAGGTTGGAGTGCAGTGGTGCAGTCTCAGCTCACTGCAACCTCCA CCTCCTGAGTTTTAAGCAATTCTCTCTGCCTCAGCCTCCCGAGTAGCTGG GATTACAGGTGCTCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAG AGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCA GGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAG CCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCC ATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACC TCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCT AATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTG GTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGT GCTGGGATTACAGGTGCTCGCCACCACACCCGGCTAATTTTTGTATTTTT AGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGA CCTCAGGTGATCCACCCACCTCAGCTTCCCAAAGTGTTAGGATTACAGGT GTGAGCCACCGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp1 HG02615.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0045 a0001c0010t0045	a0001c0010t0045g0011 a0001c0010t0045g0011	2	350	0.0057	711	c.681 others(728): Show c.681-3687_681-3686insACGGTGGCTCACACCTGTAATCCTAACA CTTTGGGAAGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACC AGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTA GCCGGGTGTGGTGGCGAGCACCTGTAATCCCAGCACTTTGGGAGGCTGAG GTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG GCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGC TCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCT GAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTC TACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCTCACACCTGTAATCC CAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCA AGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAA AATTAGCCGGGTGTGGTGGCGAGCACCTGTAATCCCAGCTACTCGGGAGG CTGAGGCAGAGAGAATTGCTTAAAACTCAGGAGGTGGAGGTTGCAGTGAG CTGAGACTGCACCACTGCACTCCAACCTGGGCAATAGAGTGAGACGCCGT CTCAAAAAAAAATAAATAAAATAATGGCCAGGC	RNF168	ENSG00000163961.4	transcript	ENST00000318037.3	protein_coding	4/5			chr3	TogoVar
RPEL1_chr10_103240887_103253016	103251100	A A	ACCACCAT others(704): Show ACCACCATCACCACCTCCACCACCACCACCACCAACACCACCACGACTAC CATCACCACCACCATCACCACCTCCACCATCATCACCACCTCCACCATCA CCACCTCCAACACCACCACCACCACCATCACCACCTCCACCACCATCACC ACCTCCACCATCACCACCACCACCATCACCACCACCACCACCATCACCAC CTCCAACACCACCTCCACCACCACCACCACCACCACCATCACCACCTCCA CCACCATCATCACCTCCACCACAACCACCATCACCACCACCACCATCACC ACCTGCACCACCATCACCACCTCCACCACCATCACCACCACCTCCACCAC TATCACCACCTCCACCACCACCACCACCACCATCACCACCTCCACCACCA TCACCACCTCCACCACCTCCACCACCATCACCACCTCCACCACTACCATC ACCACCACCAACACCACCACCATCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCATCACCACCTCCACCACCATCACCACCT CCACCACCATCACCACCTCCACCACCATCACCACCTCCACTACCATCACC ACCTCCACCACCACCACCATCACCATCACCACCACCACCACCTCCACCAC CATCATCACCACCACCACCACCTCCACCACCACCATCACCACCACCACCA CCACCATCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	375	0.0027	711	c.44 others(722): Show c.4417_*4418insCCACCATCACCACCTCCACCACCACCACCACCAA CACCACCACGACTACCATCACCACCACCATCACCACCTCCACCATCATCA CCACCTCCACCATCACCACCTCCAACACCACCACCACCACCATCACCACC TCCACCACCATCACCACCTCCACCATCACCACCACCACCATCACCACCAC CACCACCATCACCACCTCCAACACCACCTCCACCACCACCACCACCACCA CCATCACCACCTCCACCACCATCATCACCTCCACCACAACCACCATCACC ACCACCACCATCACCACCTGCACCACCATCACCACCTCCACCACCATCAC CACCACCTCCACCACTATCACCACCTCCACCACCACCACCACCACCATCA CCACCTCCACCACCATCACCACCTCCACCACCTCCACCACCATCACCACC TCCACCACTACCATCACCACCACCAACACCACCACCATCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCATCACCACCTCCA CCACCATCACCACCTCCACCACCATCACCACCTCCACCACCATCACCACC TCCACTACCATCACCACCTCCACCACCACCACCATCACCATCACCACCAC CACCACCTCCACCACCATCATCACCACCACCACCACCTCCACCACCACCA TCACCACCACCACCACCACCATCACCT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3085		chr10	TogoVar
SART1_chr11_65956734_65985137	65971177	A A	AGCTGCTG others(704): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATG GTGGGATTCATG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01433.hp1 others(1): Show HG00642.hp1 HG00642.hp2 HG01433.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0219 a0001c0002t0002g0220 others(1): Show a0001c0002t0002g0204 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0227	4	384	0.0104	711	c.157 others(730): Show c.1572+3356_1572+3357insGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19			chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(704): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTC CTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTC ATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATT CTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTA TCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCC CCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCC AAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACA AGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACA AGCACTGCTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCA TAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCAT AGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCAC TGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0063 a0003c0001t0001g0063	1	280	0.0036	711	c.89- others(724): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAGAATGA GGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGAATGAG GAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGAGGAG AGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAG GGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGG AGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGGGGAGG GTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGT TGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGA GCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGC TATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATG CTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCT TGTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(704): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTC CTCATTCTATCCCCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTC ACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACT ATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACC CCCCCCAAGCATAGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCC CCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCC CCCACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTATCCCCCC ACAAGCATTGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACA AGCATCACTCCAGCCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGC ATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCAACAAGCAT AGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCAC TGCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0015 a0015	a0015c0033 a0015c0033	a0015c0033t0009 a0015c0033t0009	a0015c0033t0009g0061 a0015c0033t0009g0061	1	280	0.0036	711	c.89- others(724): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTTGGGGGGGTAGA ATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAGTG AGGAGAGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGG AGAGTAGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGA GTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAGAATGAGGAGAG TGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGAATGAGGAGAGT TGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATGAGGAGAGTAGG GGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGGAGG GCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTT GGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGGGGAGGGTTGAA GCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGC TATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATG CTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCT TGTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(704): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATATTCCAT ATATATATATATTCCATATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TAAATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATTCCATATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT TCCATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp1 HG03831.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0102 a0001c0001t0001g0112	2	324	0.0062	711	c.115 others(728): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATTTATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT GGAATATATATATATATATGGAATATATATATATATGGAATATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERINC2_chr1_31408213_31439678	31431886	C C	CAGGGTGG others(704): Show CAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATA GGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTT AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GAGAGGGTGGAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0201 a0001c0004t0003g0201	1	376	0.0027	711	c.101 others(730): Show c.1014-1074_1014-1073insTTAGGGTGGAGAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGG AGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGTTAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTA GGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGAGAGG GTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGT TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC10A7_chr4_146248981_146526940	146430021	T T	TAATACAC others(704): Show TAATACACTAACCAGTTACAATCTATAGTAACCCATTACAATCTAGATGG AAACTCACTCCAAAAGCTAAATAACCATAAAAGGAAAGCTGGAGAAATTG CTTTTGAGATAGGTTTTGAAGGACAGCTAGGATAATAGAATGGATGGGAA CAGTGCAAGCAAAGAGGTGGGAGCAGAAAAAGGTCCAAGTGTTAGAGGAT GCTTTATAAGTATAAAGGCAATGAAAAAAAATCCATAAAGGAAAAAATGG ACAAACGTGACATACATAAAAATTTTAAAATTCTATAACCATATGCAAAG TAACAAACCCCAACTAATACACTGAACTATACAAAAAAATTCATTCAAAA CGGATCACAGGACTAAATGTAAAAACAAAAATTAAGGGCCGGGCGCGGTG GCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0129 a0001c0001t0016g0129	1	244	0.0041	711	c.435 others(730): Show c.435+12761_435+12762insTTTTTTTTTTTTTTTTTTTGTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC CTTAATTTTTGTTTTTACATTTAGTCCTGTGATCCGTTTTGAATGAATTT TTTTGTATAGTTCAGTGTATTAGTTGGGGTTTGTTACTTTGCATATGGTT ATAGAATTTTAAAATTTTTATGTATGTCACGTTTGTCCATTTTTTCCTTT ATGGATTTTTTTTCATTGCCTTTATACTTATAAAGCATCCTCTAACACTT GGACCTTTTTCTGCTCCCACCTCTTTGCTTGCACTGTTCCCATCCATTCT ATTATCCTAGCTGTCCTTCAAAACCTATCTCAAAAGCAATTTCTCCAGCT TTCCTTTTATGGTTATTTAGCTTTTGGAGTGAGTTTCCATCTAGATTGTA ATGGGTTACTATAGATTGTAACTGGTTAGTGTATT	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	5/11			chr4	TogoVar
SLC4A8_chr12_51419831_51520763	51498773	C C	CGGAGGCT others(704): Show CGGAGGCTGAGGCACAAGAATCGCTTGAACCCATGAGGCAGAGGTTGCAG TGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACT TTGTCTCAAAAAAAAAAAAAAAGGTAATATAAGTTGCATAAATCTCTTTA GAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCCCTTTGGCCCA GCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAGCAATGTAGAC AAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAATTAGAGTAAA TGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATTTTTTTTTGAG ACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCGTGATCTCAGC TCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCT CCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCAGCTAATTTTT GTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGATGGTCTTAA TCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTTTTAAAAAATAC TTAATGATGATAAGTATTTTGTAATGATACTCAATGATGTGTGCTGTAGT CCCAGCTACTCG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	358	0.0028	711	c.308 others(730): Show c.3081+1662_3081+1663insCAAGAATCGCTTGAACCCATGAGGCA GAGGTTGCAGTGAGCCGAGATTGTGCCACTCCACTCCAGCCTGGGCGACA GAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAGGTAATATAAGTTGCATA AATCTCTTTAGAGGGCAGTTTAACCTTAGAGTCTTAAAAACGTATATGCC CTTTGGCCCAGCAACTCTAATTTTTAAATTTATCCTAAGGATATAATTAG CAATGTAGACAAAATATTTTAATTGTGGTGACATAAAGAAAAAAAGAAAA TTAGAGTAAATGTATTACAATGGAATATTGTACAACAGTTTAAAAAAATT TTTTTTTGAGACAGAGTCTCGCTCTGTCTCCAGACTGGAGTGCAGTGGCG TGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCT GCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCA GCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGG ATGGTCTTAATCTCTTGACCTCGTGATCCACCCTCCTCAGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGTCTAAAAATAAAGTTT TAAAAAATACTTAATGATGATAAGTATTTTGTAATGATACTCAATGATGT GTGCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA	SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr12	TogoVar

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Search Results (Total: 8931 hits)