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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	356241	C C	CCACACAC others(426): Show CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA19004.hp1 NA18963.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0032 a0001c0015t0007 a0001c0001t0032 a0001c0015t0007	a0001c0001t0032g0004 a0001c0015t0007g0026 a0001c0001t0032g0004 a0001c0015t0007g0026	2	133	0.0150	433	c.-37 others(444): Show c.-3743_-3742insTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3435		chr17	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(426): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATATCTATAATATATATATTATA TCTATAATATATAATATATCTATAATATATATATTATATCTATAATATAT AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATAATATATCTATAATATATATATTATATATATAATATATAATATA TTATATATAATATATAATATATTATATATATAATATATAATATATTATAT ATATAATATATAATATATTATATATATAATATATTATATGTAATATATAT ATGTTATATCTATAATATATATTATATCTATAATATATAATATATTATAT CTATAATATATAATATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	172	0.0058	433	c.242 others(450): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATATTATAGATA TAACATATATATATTACATATAATATATTATATATATAATATATTATATA TTATATATATAATATATTATATATTATATATATAATATATTATATATTAT ATATAATATATTATATATTATATATATAATATATATATTATAGATATATT ATATATTATAGATATATTATATATTATAGATATAATATATATATTATAGA TATATTATATATTATAGATATAATATATATATTATAGATATATTATATAT TATAGATATAATATATATATTATAGATATATTATATATTATAGATATAAT ATATATATTATAGATATATTATATATTATAGATATAATATATATATTATA GATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RXRA_chr9_134321455_134445585	134444407	C C	CTTCCCCC others(426): Show CTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTC CTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTC CCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTC CCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCC TCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTC TCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCC TCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCC TCCTCCCTTCCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTTCCCCCTCC CTCCTCCTTCCTCCCTCCTTCCCTCCTTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0126 a0001c0004t0005g0126	1	232	0.0043	433	c.77 others(444): Show c.7793_*7794insTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT CCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCC CTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCT CTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCC CTCCTTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCC CTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCT TCCCTTCCCCCTCCCTCCTCCCTTCCCCCCTCCTCCCTTCCCCCTCCCTC CTTCCTTCCCCCTCCCTCCTCCTTCCTCCCTCCTTCCCTCCTTCCTCCT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3823		chr9	TogoVar
SART1_chr11_65956734_65985137	65971457	T T	TGCTGAGG others(426): Show TGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCAG GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0112 a0002c0001t0001g0112	1	384	0.0026	433	c.157 others(452): Show c.1572+3662_1572+3663insGAAGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCAGGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCAMP1_chr5_78355617_78485739	78430103	A A	AGTATTTG others(426): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACAGTATTTGTTTA TAAATACAGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	332	0.0030	433	c.632 others(450): Show c.632+8149_632+8150insGTTTATAAATACAGTATTTGTTTATAAA TACAGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTGTTTATAAATACTGTGTTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(426): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATATAGAATATAATAT ATAATATATTATATATTATAGAATATAATATATAATATATTATATATTAT AGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	340	0.0029	433	c.17 others(452): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATATATATAATATATTATATATTATATTCT ATAATATATAATATATTATATATTATATTCTATAATATATAATATATTAT ATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATAT ATAATATATTATATATTATATTCTATAATATATAATATATTATATATTAT ATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATAT ATTATATATTATATTCTATAATATATAATATATTATATATTATAGAATAT AATATATAATATATTATATATTATAGAATATAATATATAACATAATATAT ATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168589935	G G	GGGGGCAG others(426): Show GGGGGCAGCCCCAGCCTGGTGGTGGTCAGGTGTGGCATTAGTTTACGGGG CAGCCGGCCTGGTGGTGGTCAGGTGTGGCATTAGTTTAGGGGGCAGCCGG CCTGGTGGTGGTCAGGTGTGGCATTAGTTTAGGGGGCAGCCGGCCTGGTG GTGGTCAGGTGTGGCATTAGTTTAGGGGGCAGCCGGCCTGGTGGTGGTCA GGTGTGGCATGAGTTTACGGGGCAGCCGGCCTGGTGGTGGTCAGGTGTGG CATTAGTTTACGGGGCAGCCGGCCTGGTGGTGGTCAGGTGTGGCATGAGT TTACGGGGCAGCCGGCCTGGTGGTGGTCAGGTGTGGCATTAGTTTACGGG GCAGCCGGCCTGGTGGTGGTCAGGTGTGGCATGAGTTTAGGGGGCAGCCC CAGCCTGGTGGTGGTCAGGTGTGGCATTAGTTTA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18973.hp2 NA19085.hp1 NA18950.hp1 NA18973.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112	3	180	0.0167	433	c.638 others(450): Show c.638-8874_638-8873insCCAGCCTGGTGGTGGTCAGGTGTGGCAT TAGTTTACGGGGCAGCCGGCCTGGTGGTGGTCAGGTGTGGCATTAGTTTA GGGGGCAGCCGGCCTGGTGGTGGTCAGGTGTGGCATTAGTTTAGGGGGCA GCCGGCCTGGTGGTGGTCAGGTGTGGCATTAGTTTAGGGGGCAGCCGGCC TGGTGGTGGTCAGGTGTGGCATGAGTTTACGGGGCAGCCGGCCTGGTGGT GGTCAGGTGTGGCATTAGTTTACGGGGCAGCCGGCCTGGTGGTGGTCAGG TGTGGCATGAGTTTACGGGGCAGCCGGCCTGGTGGTGGTCAGGTGTGGCA TTAGTTTACGGGGCAGCCGGCCTGGTGGTGGTCAGGTGTGGCATGAGTTT AGGGGGCAGCCCCAGCCTGGTGGTGGTCAGGTGTGGCATTAGTTTAGGGG CAGCC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(426): Show ACACACCACACATACACACACACACATACACACACAAACATACACACCAC ACACACATACCCACACACACACATACATACACACCACACACCCCCACACA CATACACACACACAAAAATACACATACACACAAACACACAAATACACACA TACACACAAAAATACACATACACACAAACACACAAATACACACACAGAAA TACACATACATACACACACACACACCCACATACCCACACACATACCCACA CACCCACAAACACACATACACACACACACACAAATACACACACATACATA ACACACCCACACACATACACACACACAATACACATACACACAAACACACA CATACACATACAAAAATACACACATACACACACACAAATACACACATACA CACACATACCCACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	150	0.0067	433	c.107 others(454): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG GGTATGTGTGTGTATGTGTGTATTTGTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTGTTTGTGTGTATGTGTATTGTGTGTGTGTATGTGT GTGGGTGTGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTATGTGTG TTTGTGGGTGTGTGGGTATGTGTGTGGGTATGTGGGTGTGTGTGTGTGTA TGTATGTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATT TTTGTGTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTG TGTGTGTATGTGTGTGGGGGTGTGTGGTGTGTATGTATGTGTGTGTGTGG GTATGTGTGTGTGGTGTGTATGTTTGTGTGTGTATGTGTGTGTGTGTATG TGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325242	G G	GGGGGGGG others(426): Show GGGGGGGGCGGGAAGGAGGGAGGGGGGGGGCGGGGGGCCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGA AGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GCGGGAAGGAGGGAGAAGGAGTCGGGGGGCCGGGAAGGAGGGAGAAGGAG TCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGGCGGGAAGGAGG GAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGG GAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGG GGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGG AGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0135 a0002c0008t0001g0135	1	150	0.0067	433	c.531 others(450): Show c.531+1958_531+1959insGCGACTCCTTCTCCCTCCTTCCCGCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCCGCCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCC CCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGACTCCTTCTCCCTCCT TCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTC CCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACT CCTTCTCCCTCCTTCCCGGCCCCCCGCCCCCCCCCTCCCTCCTTCCCGCC CCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(426): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGTGGGAGGGGGAGAGGGAGGGGGAGGGGGAAGGG GGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAAC GGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGG AGATGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAG GGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGACGGGGGAGGGG AGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0175 a0005c0006t0010g0175	1	251	0.0040	433	c.34 others(442): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGT TCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCC CTTCCCCCTCCCCCTCCCTCTCCCCCTCCCACCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46184511	C C	CCAACCCA others(426): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0132 a0001c0001t0033g0132	1	251	0.0040	433	c.-11 others(444): Show c.-1115_-1114insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		53		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46184511	C C	CCAACCCA others(426): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp2 HG01099.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18952.hp2 NA18954.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19030.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19079.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2	a0001 a0010 a0011 others(1): Show a0001 a0010 a0011 a0013	a0001c0001 a0001c0013 a0001c0016 others(3): Show a0001c0001 a0001c0013 a0001c0016 a0010c0012 a0011c0011 a0013c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0041 a0001c0001t0042 a0001c0013t0032 a0001c0016t0002 a0010c0012t0002 a0011c0011t0004 a0013c0009t0002	a0001c0001t0001g0006 a0001c0001t0001g0146 a0001c0001t0001g0147 others(61): Show a0001c0001t0001g0006 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0070 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0004g0003 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0177 a0001c0001t0013g0149 a0001c0001t0015g0121 a0001c0001t0015g0124 a0001c0001t0015g0128 a0001c0001t0021g0109 a0001c0001t0021g0179 a0001c0001t0024g0022 a0001c0001t0029g0178 a0001c0001t0030g0110 a0001c0001t0031g0114 a0001c0001t0041g0199 a0001c0001t0042g0200 a0001c0013t0032g0127 a0001c0016t0002g0145 a0010c0012t0002g0125 a0011c0011t0004g0160 a0013c0009t0002g0111	83	251	0.3307	433	c.-11 others(444): Show c.-1115_-1114insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		53		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46184633	G G	GCCACACC others(426): Show GCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGG CCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGT GGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCC AGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCACCAC CAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAGGAC CACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACT CAGGACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACG GGCACCCACCACCACCAACCCAGTGGGCAAACAAAAAAAAAAAAAAGAGG AGAGATACCACCACCACCAACCCAGTGGGCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	251	0.0040	433	c.-12 others(444): Show c.-1237_-1236insGCCGGCCCACTGGGTTGGTGGTGGTGGTATCTCT CCTCTTTTTTTTTTTTTTGTTTGCCCACTGGGTTGGTGGTGGTGGGTGCC CGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTG AGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTG GTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTG GTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACT GGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGGTGTGGCCGG CCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		175		chr21	TogoVar
SPOCK3_chr4_166728384_167239494	167109048	A A	AAAAATAT others(426): Show AAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATAT TTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAAT ATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATAT ATAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAA ATATATATAAATATATATTTATATATAAATATATATAAATATATATTTAT ATATAAATATATATAAATATATATTTATATAAAAATATATATAAATATTA TATATTTATATAAAAATATATATAAATATTATATATTTATATAAAAATAT ATATAAATATTATATATTTATATAAAAATATATATAAATATTATATATTT ATATAAAATATATATAAATATTATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	144	0.0069	433	c.190 others(452): Show c.190-46512_190-46511insATATAAATATATAATATTTATATATA TTTTATATAAATATATAATATTTATATATATTTTTATATAAATATATAAT ATTTATATATATTTTTATATAAATATATAATATTTATATATATTTTTATA TAAATATATAATATTTATATATATTTTTATATAAATATATATTTATATAT ATTTATATATAAATATATATTTATATATATTTATATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT AAATATATATTTATATATATTTTTATATAAATATATATTTATATATATTT TTATATAAATATATATTTATATATATTTTTATATAAATATATATTTATAT ATATTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
TAF4_chr20_61969798_62070881	61971395	G G	GTCACACA others(426): Show GTCACACACCGGGCAGACGTGCATTCAACACTGGGTAGACGTGCATTCAG CTTCATCACTGCGTCACACACCGGGCAGACGTGCATTCAACACTGGTAGA CGTGCATTCAGCTTCATCACTGCATCACACACCGGGCAGACGTGCATTCA ACACTGGGTAGACGGGCATTCAGCTTCATCACTGCGTCACACACCGGGCA GACGTGCATTCAACACTGGGTAGACGTGCATTCAGCTTCATCACTGCGTC ACACACCGGGTAGACGTGCATTCAACACTGGGTAGACGTGCATTCAGCTT CATCACTGCATCACACACCGGGTAGACGTGCATTCAACACTGGGTAGACG TGCATTCAGCTTCATCACTGCGTCACACACCGGGCAGACGTGCATTCAAC ACTGGGTAGACGTGCATTCAGCTTCATCACTGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02280.hp1 HG02572.hp2 others(2): Show HG01167.hp2 HG02280.hp1 HG02572.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0128 a0001c0003t0001g0129 others(2): Show a0001c0003t0001g0057 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131	5	314	0.0159	433	c.47 others(444): Show c.4772_*4773insTGCAGTGATGAAGCTGAATGCACGTCTACCCAGT GTTGAATGCACGTCTGCCCGGTGTGTGACGCAGTGATGAAGCTGAATGCA CGTCTACCCAGTGTTGAATGCACGTCTACCCGGTGTGTGATGCAGTGATG AAGCTGAATGCACGTCTACCCAGTGTTGAATGCACGTCTACCCGGTGTGT GACGCAGTGATGAAGCTGAATGCACGTCTACCCAGTGTTGAATGCACGTC TGCCCGGTGTGTGACGCAGTGATGAAGCTGAATGCCCGTCTACCCAGTGT TGAATGCACGTCTGCCCGGTGTGTGATGCAGTGATGAAGCTGAATGCACG TCTACCAGTGTTGAATGCACGTCTGCCCGGTGTGTGACGCAGTGATGAAG CTGAATGCACGTCTACCCAGTGTTGAATGCACGTCTGCCCGGTGTGTGA	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding		3402		chr20	TogoVar
TAF4_chr20_61969798_62070881	61982202	C C	CAAGAGGA others(426): Show CAAGAGGAGACACCAAACCCACACCCACCCCAGAGGAGACACCAAACTCA CACCCCACCCGAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAACA CCAAACCCACAACCCACCGGAGAGGAGACACCAAAACCCACACAACCCAC ATCCACCCGAGAGGAGACACCCAACCTATACCCCACCAGAGAGGAGACAC CAAACCCATACCCCACGAGAGAGGAGACACCAAACCCATACCCCACCAGA GACGAGACACCAAAACCCACACAACCGACACCCACCCAAGAGGAGACACC AAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGAGAG GAAACACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCT ACCAGAGAGGAGACACCAAAACCCACATCCACCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	314	0.0032	433	c.309 others(452): Show c.3091-5868_3091-5867insAGGTGGATGTGGGTTTTGGTGTCTCC TCTCTGGTAGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTT GGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGT GTGGGTTTGGTGTCTCCTCTTGGGTGGGTGTCGGTTGTGTGGGTTTTGGT GTCTCGTCTCTGGTGGGGTATGGGTTTGGTGTCTCCTCTCTCGTGGGGTA TGGGTTTGGTGTCTCCTCTCTGGTGGGGTATAGGTTGGGTGTCTCCTCTC GGGTGGATGTGGGTTGTGTGGGTTTTGGTGTCTCCTCTCCGGTGGGTTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTCGG GTGGGGTGTGAGTTTGGTGTCTCCTCTGGGGTGGGTGTGGGTTTGGTGTC TCCTCTT	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982202	C C	CAAGAGGA others(426): Show CAAGAGGAGACACCAAACCCACACCCACCCCAGAGGAGACACCAAACTCA CACCCCACCCGAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAACA CCAAACCCACAACCCACTGGAGAGGAGACACCAAAACCCACACAACCCAC ATCCACCCGAGAGGAGACACCCAACCTATACCCCACCAGAGAGGAGACAC CAAACCCATACCCCACGAGAGAGGAGACACCAAACCCATACCCCACCAGA GACGAGACACCAAAACCCACACAACCGACACCCACCCAAGAGGAGACACC AAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGAGAG GAAACACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCT ACCAGAGAGGAGACACCAAAACCCACATCCACCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	314	0.0032	433	c.309 others(452): Show c.3091-5868_3091-5867insAGGTGGATGTGGGTTTTGGTGTCTCC TCTCTGGTAGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTT GGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGT GTGGGTTTGGTGTCTCCTCTTGGGTGGGTGTCGGTTGTGTGGGTTTTGGT GTCTCGTCTCTGGTGGGGTATGGGTTTGGTGTCTCCTCTCTCGTGGGGTA TGGGTTTGGTGTCTCCTCTCTGGTGGGGTATAGGTTGGGTGTCTCCTCTC GGGTGGATGTGGGTTGTGTGGGTTTTGGTGTCTCCTCTCCAGTGGGTTGT GGGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTCGG GTGGGGTGTGAGTTTGGTGTCTCCTCTGGGGTGGGTGTGGGTTTGGTGTC TCCTCTT	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61982228	A A	ACCCCAGA others(426): Show ACCCCAGAGGAGACACCAAACTCACACCCCACCCGAGAGGAGACACCAAA CCCACACCCACCTGAGAGGAAACACCAAACCCACAACCCACCGGAGAGGA GACACCAAAACCCACACAACCCACATCCACCCGAGAGGAGACACCCAACC TATACCCCACCAGAGAGGAGACACCAAACCCATACCCCACGAGAGAGGAG ACACCAAACCCATACCCCACCAGAGACGAGACACCAAAACCCACACAACC GACACCCACCCAAGAGGAGACACCAAACCCACACCCACCTGAGAGGAAAC ACCAAACCCACACCCACCTGAGAGGAAACACCAAACCCACACCCACCTGA GAGGAAACACAAACCCACACCCTACCAGAGAGGAGACACCAAAACCCACA TCCACCTGAGAGGAGACACCAAACCCACACCCAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0001 a0017c0022t0001	a0017c0022t0001g0020 a0017c0022t0001g0020	1	314	0.0032	433	c.309 others(452): Show c.3091-5894_3091-5893insGTGGGTGTGGGTTTGGTGTCTCCTCT CAGGTGGATGTGGGTTTTGGTGTCTCCTCTCTGGTAGGGTGTGGGTTTGT GTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTTTCCTCTCAGGTGGGTGTG GGTTTGGTGTTTCCTCTCAGGTGGGTGTGGGTTTGGTGTCTCCTCTTGGG TGGGTGTCGGTTGTGTGGGTTTTGGTGTCTCGTCTCTGGTGGGGTATGGG TTTGGTGTCTCCTCTCTCGTGGGGTATGGGTTTGGTGTCTCCTCTCTGGT GGGGTATAGGTTGGGTGTCTCCTCTCGGGTGGATGTGGGTTGTGTGGGTT TTGGTGTCTCCTCTCCGGTGGGTTGTGGGTTTGGTGTTTCCTCTCAGGTG GGTGTGGGTTTGGTGTCTCCTCTCGGGTGGGGTGTGAGTTTGGTGTCTCC TCTGGGG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TARS2_chr1_150482419_150512602	150482494	T T	TTTTTTTT others(426): Show TTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTGTTGCCCAGGCTGGAGT GCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCA CCACACCTGGCTAATTGTGTATTTTTGGTAGAGACGGGGTTTCTCCATGT TGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTCAG CCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTAATT TTTGTATTTTTAGTAAAGACGGGCTTTCACTATGTTGGCCACGCTGATCT CGAACTCCTGACCTCAGATCCACCTGCCTCAGCCTCCCAAATGCTGAGAT TACAGGCGTGAGCCACTGCATCCAGCCTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0298 a0001c0001t0006g0298	1	400	0.0025	433	c.-49 others(444): Show c.-4957_-4956insTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTGT TGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAT TACAGGCATGTGCCACCACACCTGGCTAATTGTGTATTTTTGGTAGAGAC GGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTG ATCTGCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCTGGCTAATTTTTGTATTTTTAGTAAAGACGGGCTTTCACTATGT TGGCCACGCTGATCTCGAACTCCTGACCTCAGATCCACCTGCCTCAGCCT CCCAAATGCTGAGATTACAGGCGTGAGCCACTGCATCCAGCCTTCTCTC	TARS2	ENSG00000143374.18	transcript	ENST00000369064.8	protein_coding		4924		chr1	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(426): Show GGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAA GAGTCAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGGTTAGGGA GGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	466	0.0022	433	c.50 others(444): Show c.5048_*5049insAGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCC TCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TAACCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTA ACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTGACTC TTGGTCTCCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930786	C C	CAGGGGGT others(426): Show CAGGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCC TAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGACCAAGGGTCAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGACCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCG GGGTCAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGG AGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	466	0.0022	433	c.48 others(444): Show c.4804_*4805insTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCT CCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTGACCC CGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGTCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTGACCCTTGGTCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCTA GGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4583		chr11	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(426): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCA GGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCA TTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02257.hp2 others(16): Show HG01109.hp2 HG01884.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG02922.hp1 HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03579.hp1 NA19240.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 others(5): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0046 a0001c0001t0050 a0003c0003t0025	a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0075 others(15): Show a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0075 a0001c0001t0005g0076 a0001c0001t0005g0131 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0008g0282 a0001c0001t0015g0040 a0001c0001t0015g0200 a0001c0001t0016g0103 a0001c0001t0016g0292 a0001c0001t0016g0293 a0001c0001t0028g0294 a0001c0001t0028g0307 a0001c0001t0046g0041 a0001c0001t0050g0203 a0003c0003t0025g0107	19	402	0.0473	433	c.-32 others(444): Show c.-3217_-3216insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTC TCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTT TTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCT GGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(426): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCA GGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCA TTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0295 a0001c0001t0008g0295	1	402	0.0025	433	c.-32 others(444): Show c.-3217_-3216insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTC TCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTT TTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCT GGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(426): Show TCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGA GTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAA GTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGT TTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCA GGCTGGAATGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCA TTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0040 a0001c0001t0015g0040	1	402	0.0025	433	c.-32 others(444): Show c.-3217_-3216insCAAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCT GTTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCA AACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCT GGCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTC TCTCTCTGTCGCCCAGGCTGGAATGCAGTGGTGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTT TTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCT GGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(426): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG GGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCA GGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCA TTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG04199.hp2 HG03669.hp1 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0303 a0002c0002t0003g0304 a0002c0002t0003g0303 a0002c0002t0003g0304	2	402	0.0050	433	c.-32 others(444): Show c.-3217_-3216insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGGGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTC TCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTT TTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCT GGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(426): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCA GGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCA TTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 NA19000.hp2 HG00280.hp2 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0002 a0001c0001t0002 a0004c0004t0002	a0001c0001t0002g0051 a0004c0004t0002g0257 a0001c0001t0002g0051 a0004c0004t0002g0257	2	402	0.0050	433	c.-32 others(444): Show c.-3217_-3216insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTGTTTTTTGTTTTTTTTTTGAGACAAAGTC TCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTT TTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCT GGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(426): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCACCCA GGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCA TTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG02735.hp2 HG01069.hp1 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0235 a0003c0003t0003g0003 a0003c0003t0003g0235	2	402	0.0050	433	c.-32 others(444): Show c.-3217_-3216insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTC TCTCTCTGTCACCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTT TTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCT GGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TRARG1_chr17_1274662_1305978	1276785	T T	TCAAAAAA others(426): Show TCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTGTTGCTGAGGCTGGAG TGCAGTGGCGTGATCATGGCTCACTGCAACGTCAAACTTCTGGACTCAAG TGATCCTCCTGAACAGCAGGGACTATAAGTGCCTGGCTTGAAACCCAGTT TTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTCTCTCTCTGTCGCCCA GGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTGCCA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCGTGCCACCACACCTGGCAATTTTTTTGTATTTTTAGTAGAAAGGGCA TTTCACTGTGTTGACCAGGGTGATCTCGATCTCCTGGCCTCGTGATCTGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(198): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18992.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0014 a0002c0002t0060 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0008 a0003c0003t0024 a0003c0003t0026 a0003c0003t0033 a0003c0003t0054 a0003c0003t0055 a0003c0003t0058 a0004c0004t0002 a0004c0004t0004 a0005c0005t0009 a0006c0006t0001 a0006c0006t0004 a0007c0007t0007 a0007c0007t0014	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(156): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0180 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0259 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0120 a0001c0001t0002g0145 a0001c0001t0002g0153 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0254 a0001c0001t0002g0279 a0001c0001t0004g0025 a0001c0001t0004g0053 a0001c0001t0004g0089 a0001c0001t0004g0177 a0001c0001t0004g0253 a0001c0001t0004g0275 a0001c0001t0006g0098 a0001c0001t0008g0046 a0001c0001t0008g0286 a0001c0001t0008g0291 a0001c0001t0011g0169 a0001c0001t0011g0172 a0001c0001t0012g0036 a0001c0001t0013g0034 a0001c0001t0017g0028 a0001c0001t0017g0091 a0001c0001t0019g0192 a0001c0001t0019g0193 a0001c0001t0020g0001 a0001c0001t0021g0033 a0001c0001t0022g0022 a0001c0001t0023g0205 a0001c0001t0023g0287 a0001c0001t0027g0281 a0001c0001t0027g0283 a0001c0001t0029g0136 a0001c0001t0030g0005 a0001c0001t0035g0058 a0001c0001t0047g0150 a0001c0001t0049g0072 a0001c0001t0051g0174 a0002c0002t0003g0003 a0002c0002t0003g0008 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0215 a0002c0002t0003g0220 a0002c0002t0003g0221 a0002c0002t0003g0224 a0002c0002t0003g0225 a0002c0002t0003g0227 a0002c0002t0003g0231 a0002c0002t0003g0238 a0002c0002t0003g0240 a0002c0002t0003g0244 a0002c0002t0004g0018 a0002c0002t0004g0233 a0002c0002t0004g0234 a0002c0002t0007g0017 a0002c0002t0007g0210 a0002c0002t0007g0223 a0002c0002t0014g0222 a0002c0002t0014g0226 a0002c0002t0060g0118 a0003c0003t0001g0011 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0297 a0003c0003t0001g0299 a0003c0003t0003g0003 a0003c0003t0003g0213 a0003c0003t0003g0214 a0003c0003t0003g0241 a0003c0003t0003g0249 a0003c0003t0003g0250 a0003c0003t0004g0248 a0003c0003t0007g0229 a0003c0003t0007g0230 a0003c0003t0007g0242 a0003c0003t0008g0296 a0003c0003t0024g0301 a0003c0003t0024g0302 a0003c0003t0026g0300 a0003c0003t0033g0207 a0003c0003t0054g0106 a0003c0003t0055g0109 a0003c0003t0058g0298 a0004c0004t0002g0185 a0004c0004t0002g0261 a0004c0004t0004g0268 a0005c0005t0009g0016 a0005c0005t0009g0216 a0005c0005t0009g0217 a0006c0006t0001g0001 a0006c0006t0001g0160 a0006c0006t0001g0184 a0006c0006t0004g0247 a0007c0007t0007g0017 a0007c0007t0007g0219 a0007c0007t0014g0243	201	402	0.5000	433	c.-32 others(444): Show c.-3217_-3216insCAAAAAAAAAAAAAGAGAGAGGGGTCTTGTTCTG TTGCTGAGGCTGGAGTGCAGTGGCGTGATCATGGCTCACTGCAACGTCAA ACTTCTGGACTCAAGTGATCCTCCTGAACAGCAGGGACTATAAGTGCCTG GCTTGAAACCCAGTTTTTTTTTGTTTTTTGTTTTTTTTTGAGACAAAGTC TCTCTCTGTCGCCCAGGCTGGAATGCAGTGGCGTGATCTCGGCTCACTGC AACCTCCGCCTGCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGATTACAGGTGCGTGCCACCACACCTGGCAATTTTTTTGTATTT TTAGTAGAAAGGGCATTTCACTGTGTTGACCAGGGTGATCTCGATCTCCT GGCCTCGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG	TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding		2876		chr17	TogoVar
TSPAN9_chr12_3072379_3291559	3198398	C C	CACCAGCA others(426): Show CACCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGGCCACCAC CAGCACAGGCCACCACCAGCACAGGTCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAG GTCACCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTC ACCACCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGCTCAC CACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCA CCAGCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACC AGCACCATCAGCACAGGCCACCACCAGCACAGCTCACCACCAGCACAGGC CACCACCAGCACAGGCCACCACCAGCACAGGTCA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0087 a0001c0003t0010g0087	1	288	0.0035	433	c.-17 others(450): Show c.-17-2779_-17-2778insACCAGCACAGCTCACCACCAGCACAGGT CACACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCAC CAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGCCACCACCAG CACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCA CAGGTCACACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAG CTCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGC CACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCA CCACCAGCACAGGCCACCACCAGCACCATCAGCACAGGCCACCACCAGCA CAGCTCACCACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACA GGTCA	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8			chr12	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(426): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	334	0.0030	433	c.657 others(448): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCC TCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTT CCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCT CCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(426): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTT CCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	334	0.0030	433	c.657 others(448): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTT CCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCT CCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(426): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	334	0.0030	433	c.657 others(448): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCCTTCCTCCCTTCCCC CTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCT CCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(426): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC CTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCC TCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	334	0.0030	433	c.657 others(448): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTC CTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCT CCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TTLL8_chr22_50013575_50063298	50028975	C C	CCCCCACA others(426): Show CCCCCACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCC ACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACAC CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCATCCTGAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0191 a0004c0004t0002g0191	1	224	0.0045	433	c.225 others(452): Show c.2251+1454_2251+1455insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGA GTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGGTCTTTACGAGGGTA TGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029029	C C	CCTCGTAA others(426): Show CCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCC CATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACA CCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACAC ACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	224	0.0045	433	c.225 others(452): Show c.2251+1400_2251+1401insTGTGTGTGGGGGTCTTCAGGACGGTG TGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTT TAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATG GTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCT TTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TXNRD2_chr22_19870522_19946818	19907728	G G	GCCGTGGG others(426): Show GCCGTGGGTAGCAGTGACCGCTCTCAGGAGAGTGTGGGCGCTGTGGGTAG CAGTGACCACTCTCAGGAGAGTGTGGGCACACCATGGGTAGCAGTGACCG CTCTCAGGAGAGTGTGGGCGCCGTGGGTAGCAGTGACCGCTCTCAGGAGA GTGTGGGCACCGTGGGTAGCAGTGACCGCTCTCAGGAGAGTGTGGGCGCC GTGGGTAGCAGTGACCGCTCTCAGGAGAGTGTGGGCGCTGTGGGTAGCAG TGACCACTCTCAGGAGAGTGTGGGCACACCATGGGTAGCAGTGACCGCTC TCAGGAGAGTGTGGGCGCCGTGGGTAGCAGTGACCGCTCTCAGGAGAGTG TGGGCGCCGTGGGTAGCAGTGACCGCTCTCAGGAGAGTGTGGGCGCTGTG GGTAGCAGTGACCACTCTCAGGAGAGTGTGGGCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0214 a0004c0027t0001g0214	1	372	0.0027	433	c.662 others(450): Show c.662+3648_662+3649insTGCCCACACTCTCCTGAGAGTGGTCACT GCTACCCACAGCGCCCACACTCTCCTGAGAGCGGTCACTGCTACCCACGG CGCCCACACTCTCCTGAGAGCGGTCACTGCTACCCACGGCGCCCACACTC TCCTGAGAGCGGTCACTGCTACCCATGGTGTGCCCACACTCTCCTGAGAG TGGTCACTGCTACCCACAGCGCCCACACTCTCCTGAGAGCGGTCACTGCT ACCCACGGCGCCCACACTCTCCTGAGAGCGGTCACTGCTACCCACGGTGC CCACACTCTCCTGAGAGCGGTCACTGCTACCCACGGCGCCCACACTCTCC TGAGAGCGGTCACTGCTACCCATGGTGTGCCCACACTCTCCTGAGAGTGG TCACTGCTACCCACAGCGCCCACACTCTCCTGAGAGCGGTCACTGCTACC CACGG	TXNRD2	ENSG00000184470.21	transcript	ENST00000400521.7	protein_coding	8/17			chr22	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(426): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATGATCTTAAAGTGCAGAAAAACATAAAACATTATGTTCTTAAC TTCAACTCATATCAAGATGAGTAACTTGGTTGCATAAGAGAAGCAATAAA GAAGTGAAAACAGGCTGGGCGCAGTGGCTCACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02257.hp2 others(6): Show HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG03516.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0008 a0001c0003 a0006c0008	a0001c0003t0014 a0001c0003t0017 a0001c0003t0023 others(2): Show a0001c0003t0014 a0001c0003t0017 a0001c0003t0023 a0001c0003t0025 a0006c0008t0019	a0001c0003t0014g0179 a0001c0003t0014g0180 a0001c0003t0014g0181 others(6): Show a0001c0003t0014g0179 a0001c0003t0014g0180 a0001c0003t0014g0181 a0001c0003t0017g0154 a0001c0003t0017g0155 a0001c0003t0023g0178 a0001c0003t0025g0177 a0006c0008t0019g0175 a0006c0008t0019g0176	9	282	0.0319	433	c.156 others(448): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATGGGGTTTTTTTGCTTTTTGTTTTGTTTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGATCTCGGCTT ACTGCAAACCCTGCCTCCTGGGTTCATACCATCCTCCTGCCTCAGCCTCT CGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCAGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCTTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTA CAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
VCX_chrX_7838171_7849143	7844325	T T	TGGTGTGT others(426): Show TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0035 a0035	a0035c0035 a0035c0035	a0035c0035t0001 a0035c0035t0001	a0035c0035t0001g0007 a0035c0035t0001g0007	1	341	0.0029	433	c.30 others(442): Show c.309_*310insGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		183		chrX	TogoVar
VGLL4_chr3_11551069_11648915	11605159	G G	GCCCCCAC others(426): Show GCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCC ATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGC TCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCA ATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCCC GCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATC TTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTCCACAGCTCT GTGAATTCCATCTTCCAAAGCGCCCCCACGCCCCCGCCCACCCCCAATCC TCCACAGCTCTGTGAATTCCATCTTCCAAAGCGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	388	0.0026	433	c.83- others(448): Show c.83-3138_83-3137insGCGCTTTGGAAGATGGAATTCACAGAGCTG TGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAAT TCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTT GGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCG TGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGT GGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGA GGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCA CAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGA AGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGG GGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
XAF1_chr17_6751046_6780647	6751537	A A	AGAAGAAG others(426): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	448	0.0022	433	c.-45 others(444): Show c.-4542_-4541insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	XAF1	ENSG00000132530.17	transcript	ENST00000361842.8	protein_coding		4508		chr17	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCTTC others(426): Show CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCATTCCCCCTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC ACCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCTCCCTTTCCCC TTCCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	246	0.0041	433	c.-10 others(450): Show c.-10-3220_-10-3219insTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CATTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCACCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCTTCCTCCCTTTCCCCTTCCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABCA13_chr7_48166458_48652497	48443861	T T	TCCTCTTT others(427): Show TCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTA CAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTT TCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGG AAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCC TGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACC CTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACA GGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTC CTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAA ACACCCTCTTTCCTTCCTGTTACAGGAGGAAACAC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	178	0.0056	434	c.125 others(457): Show c.12566-11022_12566-11021insCCCTCTTTCCTTCCTGTTACAG GAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCC TTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAA CACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGT TACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTC TTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGA GGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTT CCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTACAGGAGGAAACA CCCTCTTTCCTTCCTGTTACAGGAGGAAACACCCTCTTTCCTTCCTGTTA CAGGAGGAAACA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	42/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(427): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTA TATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18948.hp1 NA18945.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0250 a0001c0001t0001g0252	2	306	0.0065	434	c.130 others(453): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAAT ATAAAAATATTGATATATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTAT ATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172126	G G	GAGGGGGT others(427): Show GAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGATAAATCAGTGGGTGGGATGCATAAATGAGTGGGATGGA TAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGAA TGGGTGGGATGCATAAATGAGTGAGTGGGATGGATAAATGAGGGGGTGGG ATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGCATAA ATGAGTGAGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGAGTGG GTGGGATGGATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATG CATAAATGAGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGT GGGTGGGATGCATAAATGAGTGGGTGGGATGCATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0211 a0003c0007t0001g0211	1	357	0.0028	434	c.278 others(453): Show c.2787+1157_2787+1158insTATGCATCCCACCCACTCATTTATGC ATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACC TCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTAT CCATCCCACCCACTCATTTATCCATCCCACCCACCCATTTATCCATCCCA CTCACTCATTTATGCATCCCACCCACTCATTTATCCATCCCACCCACTCA TTTATCCATCCCACCCCCTCATTTATCCATCCCACTCACTCATTTATGCA TCCCACCCATTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCC ACTCATTTATCCATCCCACTCATTTATGCATCCCACCCACTGATTTATCC ATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCATCC CACCCCCT	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABHD12B_chr14_50867053_50909970	50870981	A A	AAGAGAGA others(427): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGACA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	376	0.0027	434	c.-11 others(445): Show c.-1194_-1193insAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAGAGAGAGAGACAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1071		chr14	TogoVar
ABR_chr17_998519_1184981	1118466	C C	CCTGAGCC others(427): Show CCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCA GCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGT TCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTGA GCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTA TCCCTGAGCCTGAGTCCCTCCCAGCGTTAACCCTGAGCCTGAGTTCTCCC CAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCT GAGCCTGAGTTCTCCCCAGCGTTATCGCTGAGCCTGAGTTCCTCCCAGCG TTATCTCTGAGCCTGAGTTCTCCCCAGCGTTATCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	337	0.0030	434	c.246 others(451): Show c.246+6716_246+6717insCGATAACGCTGGGGAGAACTCAGGCTCA GAGATAACGCTGGGAGGAACTCAGGCTCAGCGATAACGCTGGGGAGAACT CAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGG GGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGAT AACGCTGGGGAGAACTCAGGCTCAGGGTTAACGCTGGGAGGGACTCAGGC TCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGAGGAA CTCAGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCT GGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGG GCTCAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCGTGTCT others(427): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	295	0.0034	434	c.40 others(445): Show c.4092_*4093insACGGGGCAGAGACACGGGACGGGGCAGAGACACG GGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGA GACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACG GGACGGGGCAGGGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGA CACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCA GAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(427): Show GGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGA GGGAGGAGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAA GGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGAGAGAAAATG GAGGAAGGAGGATGGGAACAGGGAGGGAGAGAAGGAGGAAGGAAGGAGGG AAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAG GAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGG GGAGGGAGGGAGGAAGGGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGT AAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAG AGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	366	0.0027	434	c.-50 others(445): Show c.-5004_-5003insGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAA GGAAGAAGGGAGGGAGGGAGGAGGAGGGAGGAGGGAGGAAGGGAGGGAGG GAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGG GAGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGAGGGAGAGAAGG AGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGA AGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGG GAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGGGAGGGGAGAGGAA GAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGA GGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(427): Show GGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGA GGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGA AGAAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAA TGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGA GGGAGGAGATACGTAGGAAGGTTGGTGGAAAGGAAGAGAGAAAGGGGGAA GGAGGGAGGTGGAGGGTAGGTTGGTTGGGTGTGGGATGGCGGTGAGGTGG GGGTGGGTGGGTGGGGGGTAGGGTTGGGGTGAGGAAGTGAGTTGGAGTTG GTGGTGTAGGAGGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAG AGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	366	0.0027	434	c.-50 others(445): Show c.-5004_-5003insGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAA GGAAGAAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAG GGAGGGAGGAAGGGAAGAAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAG GGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGA AGGAGGAAGGAAGGAGGGAGGAGATACGTAGGAAGGTTGGTGGAAAGGAA GAGAGAAAGGGGGAAGGAGGGAGGTGGAGGGTAGGTTGGTTGGGTGTGGG ATGGCGGTGAGGTGGGGGTGGGTGGGTGGGGGGTAGGGTTGGGGTGAGGA AGTGAGTTGGAGTTGGTGGTGTAGGAGGGGATGGAGAAGGGAGGGAGGGA GGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
ADAM9_chr8_38991973_39110261	39045342	A A	AGGTGCGT others(427): Show AGGTGCGTGTGTGTACACCTATAGGTGCGTGTGTGTACACACCTATAGGT GCGTGTGTGTACACACCTATAGGTGCGTGTGTGTACACACCTATAGGTGC GTGTGTGTACACACCTATAGGTGCGTGTGTGTACACACACCTATAGGTGC GTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCTATAGGT GCGTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCTATAG GTGCGTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCTAT AGGTGCGTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCT ATAGGTGCGTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACAC CTATAGGTGCGTGTGTGTACACACACCTATAGGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	332	0.0030	434	c.130 others(453): Show c.1302+3225_1302+3226insGGTGCGTGTGTGTACACCTATAGGTG CGTGTGTGTACACACCTATAGGTGCGTGTGTGTACACACCTATAGGTGCG TGTGTGTACACACCTATAGGTGCGTGTGTGTACACACCTATAGGTGCGTG TGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCTATAGGTGCG TGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCTATAGGTG CGTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCTATAGG TGCGTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCTATA GGTGCGTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACCTA TAGGTGCGTGTGTGTACACACACCTATAGGTGCGTGTGTGTACACACACC TATAGGTG	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21			chr8	TogoVar

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Search Results (Total: 10000 hits)