Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(503): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCCTCCCTCCCCTCTCCTTCCTT CCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCT CCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTT TTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTA CACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTC CCTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCCCCTTCCCTCCCTTC CCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCC CTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTCCC CTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0092 a0001c0004t0027g0092	1	218	0.0046	510	c.80+ others(527): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCCTCCCT CCCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCT CCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCT CCCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTC CCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTT CCCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTC CCCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTC TCCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTCCCTTTCC CTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(503): Show CTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCTTCCCCTCCCCTTCCC TCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCT CCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCTTC CCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCCCCTTT TCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTAC ACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCCCTCC CTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCCCCTTCCCTCCCTTCC CCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCCCCTCCCCTCCCC TTCCCTCCCTTCCCCTCCCCTCCCCCTCCCTTTCCCTCCCCTCCCCTCCC CTCCCTTCCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0127 a0001c0004t0009g0127	1	218	0.0046	510	c.80+ others(527): Show c.80+30515_80+30516insCCCCTTCCCTCCCTTTCCCTCCCCTCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTC TCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTC CCCTCTCCTTCCTTCCCCTCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCTCTCCCCTC CCTCCCCTCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCTCC CCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTC CCTCCCCTCCCCTCCCTTTCCCTCCTCTTCCCTCTCCTCCCTTCCCGTCC CCTTCCCTCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCT CCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCCTCCCTTTCC CTCCCCTCCCCTCCCCTCCCTTCCCATCCCCT		RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(503): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCAC ATGGGGAGGAGCGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGG GGAGGAGGGGGCCGCGAGGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGG CCACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGG AGGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGGCGC GTGGGGAGGAGAGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGG GGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCC CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGA GGGGGCCGCGC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	67	0.0149	510	c.159 others(527): Show c.1590+407_1590+408insGCGCGGCCCCCTCCTCCCCACACGGCGC CTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCC TCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCCACACGG CGCCTCCTCCCCACGCGGCCCTCTCCTCCCCACGCGCCCCCCCTCCTCCC CACGCCTTCCCCTCCTCCCCACGGGGCCCCCCTCCTCTCCTCACGGCCCC CTCCTCCCCACGCGGCGCCTCCTCCCCATGTGGCCCCCTCCTCCCCACGC GGCTCCCTCCTCCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCT CCCCACGGGGCCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGCGGC CCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCATGTGGCCCCCTCCTCCCC ATGCCTTCCCCTCCTCCCCACGCCTTCCCCTC		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23						chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(503): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	412	0.0024	510	c.205 others(522): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(503): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0066 a0003c0003t0001g0066	1	412	0.0024	510	c.205 others(522): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTACTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACTGCACACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTACTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(503): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG GAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAG GGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGG GAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGA GGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGG GGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGG AGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	318	0.0031	510	c.36 others(521): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGG GGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGAG GAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGA GGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGG AGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGG AGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAG GAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGG ACGGGGGAGGAGGGGAGGGGGGAGGG		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2923		chr19	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(503): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	276	0.0036	510	c.132 others(527): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RNF223_chr1_1065967_1079306	1076389	T T	CGGGGACT others(503): Show CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCCGGGAG GCTGAGTCTACGGGGACTCCGTGCGGGGAGGCTGAGTCTATGGGGACTCC GTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTA TGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAG GCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	510	c.-23 others(521): Show c.-2383_-2382insTAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGC CTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAG TCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGC CTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAG TCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCATAGACTCAGCCTCC CCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCCGTAGC CTCAGCCTCCCGGCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAG TCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCC CCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGC CTCAGCCTCCCCCCACGGAGTCCCCG		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2083		chr1	TogoVar
RPH3AL_chr17_207389_357807	217802	C C	CCCAAGGC others(503): Show CCCAAGGCATTTCATTCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTC TGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTC CCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTG GCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAG TTATTACAGAGCCCTTCTTCTGCGCTAAAATTGCCCTCACTGGAATCAGG ACCCCGAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTT CTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCAT TTCATTCCTGTTTGGGGCAGTTACTACAGAGCCCTTCTTCTGCGCTAAAA TTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGG CAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGA AATCAGGACCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01515.hp1 HG02055.hp1 HG00140.hp2 HG01515.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0001t0020 a0001c0003t0018 a0001c0001t0016 a0001c0001t0020 a0001c0003t0018	a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0003t0018g0019 a0001c0001t0016g0093 a0001c0001t0020g0127 a0001c0003t0018g0019	3	133	0.0226	510	c.727 others(527): Show c.727+1820_727+1821insAGGTCCTGATTTCAGCGAGGCCAATTTT AGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAA ATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAG GGCTCTGTAGTAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTCGGGGTCCTGATTCCAGTGAGGG CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAAT GAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAAACAGGAATGAAATGCCTTGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	217823	C C	TTGGGGCA others(503): Show TTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCC CCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCT GCGCTAAAATTGGCCTCACTGGAATCAGGACCCCGAAGGCATTTCGTTCC CATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGG CCTCGTTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGT TATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGAAATCAGGA CCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTTC TTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCATT TCATTCCCATC	intron_variant intron_variant	MODIFIER	HG04184.hp2 NA18993.hp2 HG04184.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0004 a0001c0002t0003 a0001c0006t0004	a0001c0002t0003g0033 a0001c0006t0004g0022 a0001c0002t0003g0033 a0001c0006t0004g0022	2	133	0.0150	510	c.727 others(527): Show c.727+1800_727+1801insATGGGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAAACAGGAAT GAAATGCCTTGGGGGTCCTGATTTCAACGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTCGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAGATGGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCGA GGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGA TGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGC GCAGAAGAAGGGCTCTGTAATAACTGCCCCAA		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	218312	C C	CCCAAGGC others(503): Show CCCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTC TGCGCTAAAATTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTC CCATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTG GCCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCCATCTGGGGCAG TTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACTGGAATCAGG ACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCCTTT CTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCCCCAAGGCAT TTCATTCCTGTTTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAA TTGGCCTCACTGGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGG CAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGA AATCAGGACCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	133	0.0075	510	c.727 others(527): Show c.727+1310_727+1311insAGGTCCTGATTTCAGCGAGGCCAATTTT AGTGCAGAAGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAA ATGCCTTGGGGGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAG GGCTCTGTAATAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTG ATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAA CTGCCCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTCCAGTGAGGC CAATTTTAGCGCAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAAT GAAATGCCTTGGGGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAG AAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGG GGTCCTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAA TAACTGCCCCAGATGGGAATGAAATGCCTTGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9						chr17	TogoVar
RRBP1_chr20_17608679_17687242	17659162	C C	CCCTGGTT others(503): Show CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0118 a0015c0118	a0015c0118t0002 a0015c0118t0002	a0015c0118t0002g0147 a0015c0118t0002g0147	1	350	0.0029	510	c.134 others(519): Show c.1345_1346insACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGG	p.Gln others(523): Show p.Gln448_Gly449insAspLysLysAlaGluGlyAlaGlnAsnGlnGl yArgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaG lnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAla GluGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGl yLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrP roAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAla GluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGl yLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrP roAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAla GluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGl yLysLysAlaGluGlyAlaGlnAsnGln	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1658/5049	1345/4233	449/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGATCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp2 HG01243.hp2	a0056 a0056	a0056c0069 a0056c0069	a0056c0069t0002 a0056c0069t0002	a0056c0069t0002g0284 a0056c0069t0002g0284	1	350	0.0029	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGATCCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProIleGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGATCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCCTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02258.hp2 HG02280.hp1 HG03130.hp2 others(1): Show HG02258.hp2 HG02280.hp1 HG03130.hp2 HG03579.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0002 a0020c0017t0002	a0020c0017t0002g0003 a0020c0017t0002g0285 a0020c0017t0002g0003 a0020c0017t0002g0285	4	350	0.0114	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGATCCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspArgLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProIleGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGATCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA21309.hp1 NA21309.hp1	a0057 a0057	a0057c0067 a0057c0067	a0057c0067t0008 a0057c0067t0008	a0057c0067t0008g0015 a0057c0067t0008g0015	1	350	0.0029	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGATCCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProIleGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02055.hp2 HG02258.hp1 HG02717.hp2 others(2): Show HG02055.hp2 HG02258.hp1 HG02717.hp2 HG02818.hp2 HG03139.hp1	a0017 a0097 a0017 a0097	a0017c0021 a0017c0082 a0097c0044 a0017c0021 a0017c0082 a0097c0044	a0017c0021t0002 a0017c0082t0002 a0097c0044t0002 a0017c0021t0002 a0017c0082t0002 a0097c0044t0002	a0017c0021t0002g0161 a0017c0021t0002g0163 a0017c0021t0002g0164 others(2): Show a0017c0021t0002g0161 a0017c0021t0002g0163 a0017c0021t0002g0164 a0017c0082t0002g0162 a0097c0044t0002g0159	5	350	0.0143	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02630.hp1 HG02630.hp1	a0082 a0082	a0082c0106 a0082c0106	a0082c0106t0002 a0082c0106t0002	a0082c0106t0002g0251 a0082c0106t0002g0251	1	350	0.0029	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp2 HG02572.hp2 HG02622.hp2 others(9): Show HG01109.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp1 HG03540.hp2 HG03579.hp2	a0009 a0015 a0009 a0015	a0009c0008 a0015c0014 a0009c0008 a0015c0014	a0009c0008t0002 a0009c0008t0011 a0015c0014t0002 a0009c0008t0002 a0009c0008t0011 a0015c0014t0002	a0009c0008t0002g0247 a0009c0008t0002g0248 a0009c0008t0002g0252 others(9): Show a0009c0008t0002g0247 a0009c0008t0002g0248 a0009c0008t0002g0252 a0009c0008t0002g0253 a0009c0008t0002g0254 a0009c0008t0002g0257 a0009c0008t0011g0249 a0015c0014t0002g0142 a0015c0014t0002g0143 a0015c0014t0002g0144 a0015c0014t0002g0145 a0015c0014t0002g0146	12	350	0.0343	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18940.hp2 NA18940.hp2	a0072 a0072	a0072c0087 a0072c0087	a0072c0087t0004 a0072c0087t0004	a0072c0087t0004g0325 a0072c0087t0004g0325	1	350	0.0029	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp1 NA18949.hp1 NA18990.hp2 others(4): Show HG01243.hp1 NA18949.hp1 NA18990.hp2 NA19065.hp2 NA19080.hp2 NA19086.hp2 NA20752.hp1	a0011 a0059 a0011 a0059	a0011c0009 a0059c0062 a0011c0009 a0059c0062	a0011c0009t0004 a0059c0062t0004 a0011c0009t0004 a0059c0062t0004	a0011c0009t0004g0013 a0011c0009t0004g0327 a0011c0009t0004g0328 others(3): Show a0011c0009t0004g0013 a0011c0009t0004g0327 a0011c0009t0004g0328 a0011c0009t0004g0329 a0011c0009t0004g0330 a0059c0062t0004g0326	7	350	0.0200	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02109.hp2 HG02257.hp1 HG02451.hp1 others(4): Show HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp2 HG06807.hp2	a0010 a0053 a0010 a0053	a0010c0019 a0010c0020 a0053c0076 a0010c0019 a0010c0020 a0053c0076	a0010c0019t0002 a0010c0020t0002 a0053c0076t0002 a0010c0019t0002 a0010c0020t0002 a0053c0076t0002	a0010c0019t0002g0011 a0010c0019t0002g0287 a0010c0020t0002g0286 others(3): Show a0010c0019t0002g0011 a0010c0019t0002g0287 a0010c0020t0002g0286 a0010c0020t0002g0296 a0010c0020t0002g0297 a0053c0076t0002g0298	7	350	0.0200	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01168.hp2 HG04199.hp2 HG01168.hp2 HG04199.hp2	a0077 a0078 a0077 a0078	a0077c0107 a0078c0108 a0077c0107 a0078c0108	a0077c0107t0003 a0078c0108t0001 a0077c0107t0003 a0078c0108t0001	a0077c0107t0003g0194 a0078c0108t0001g0294 a0077c0107t0003g0194 a0078c0108t0001g0294	2	350	0.0057	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAGGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyArgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(503): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCCTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01070.hp2 HG02056.hp2 HG02165.hp1 others(4): Show HG01070.hp2 HG02056.hp2 HG02165.hp1 HG02683.hp1 NA18946.hp1 NA18950.hp2 NA19057.hp1	a0014 a0068 a0014 a0068	a0014c0011 a0068c0088 a0014c0011 a0068c0088	a0014c0011t0002 a0014c0011t0003 a0068c0088t0001 a0014c0011t0002 a0014c0011t0003 a0068c0088t0001	a0014c0011t0002g0061 a0014c0011t0003g0062 a0014c0011t0003g0126 others(4): Show a0014c0011t0002g0061 a0014c0011t0003g0062 a0014c0011t0003g0126 a0014c0011t0003g0127 a0014c0011t0003g0151 a0014c0011t0003g0202 a0068c0088t0001g0201	7	350	0.0200	510	c.129 others(519): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGC	p.Ala others(523): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RTN1_chr14_59590983_59875776	59750589	A A	AATATATC others(503): Show AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATATATTATATCTATAATATATAATATATCTATAATATATATATTA TATCTATAATATATAATATATCTATAATATATATATTATATCTATAATAT ATAATATATCTATAATATATATATTATATCTATAATATATAATATATCTA TAATATATATATTATATCTATAATATATAATATATCTATAATATATATAT TATATCTATAATATATAATATATCTATAATATATAATATATCTATAATAT ATATATTATATATATAATATATAATATATTATATATAATATATAATATAT TATATCTATAATATATTATATGTAATATATATATGTTATATCTATAATAT ATATTATATCTATAATATATAATATATTATATCTATAAATATAATATATT ATATCTATAATATATAATATATTATATCTATAATATATAATATATATATT ATATCTATAAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	172	0.0058	510	c.242 others(527): Show c.242-4109_242-4108insATTATAGATATAATATATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATTATATTTATA GATATAATATATTATATATTATAGATATAATATATATTATAGATATAACA TATATATATTACATATAATATATTATAGATATAATATATTATATATTATA TATAATATATTATATATTATATATATAATATATATATTATAGATATATTA TATATTATAGATATATTATATATTATAGATATAATATATATATTATAGAT ATATTATATATTATAGATATAATATATATATTATAGATATATTATATATT ATAGATATAATATATATATTATAGATATATTATATATTATAGATATAATA TATATATTATAGATATATTATATATTATAGATATAATATATATATTATAG ATATATTATATATTATAGATATAATATATATATTATAGATATATTATATA TTATAGATATAATATATATATTATAGATATAT		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar
SDK1_chr7_3296252_4274000	3975932	A A	AGGGTCCC others(503): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGTAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0105 a0002c0042t0002g0105	1	116	0.0086	510	c.199 others(529): Show c.1994+1437_1994+1438insGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC ACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGTAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(503): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0065 a0001c0072t0065	a0001c0072t0065g0027 a0001c0072t0065g0027	1	116	0.0086	510	c.199 others(529): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGAC GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(503): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCGAGGCTACCACACAGACGGTCCTCCAGAGAATCACTGGGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03139.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0067 a0001c0087 a0001c0067 a0001c0087	a0001c0067t0068 a0001c0087t0009 a0001c0067t0068 a0001c0087t0009	a0001c0067t0068g0001 a0001c0087t0009g0054 a0001c0067t0068g0001 a0001c0087t0009g0054	2	116	0.0172	510	c.199 others(529): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTACCACACAGACGG TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAG GGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44						chr7	TogoVar
SIGIRR_chr11_400716_419999	401197	C C	CGCCCCGC others(503): Show CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCC GCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 NA18970.hp1 HG02293.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0076 a0001c0001t0001g0046 a0001c0001t0001g0076	2	242	0.0083	510	c.46 others(521): Show c.4698_*4699insCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCG GGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCG GGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGC		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4518		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(503): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAACCCT CTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp2 HG02976.hp1 others(1): Show HG02965.hp1 HG02965.hp2 HG02976.hp1 HG06807.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0015 a0003c0037 a0001c0003 a0002c0015 a0003c0037	a0001c0003t0003 a0002c0015t0015 a0003c0037t0003 a0001c0003t0003 a0002c0015t0015 a0003c0037t0003	a0001c0003t0003g0004 a0001c0003t0003g0014 a0002c0015t0015g0085 others(1): Show a0001c0003t0003g0004 a0001c0003t0003g0014 a0002c0015t0015g0085 a0003c0037t0003g0008	4	118	0.0339	510	c.125 others(527): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGTCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(503): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACGCCCAGCCCCCCTCTAACCCTCTGCTCGCCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCC TCTAACCGTCTGCACGCCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCC CCCCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAG CCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC ACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGACCCCCTCTAACCCT CTGCACACCCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0007 a0001c0029t0007	a0001c0029t0007g0012 a0001c0029t0007g0012	1	118	0.0085	510	c.125 others(527): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGTCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTG GGCGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGG		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(503): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGGGGGGCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGG CGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGA AGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGCGG GAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGG GGGGGCGGGAGGGGGGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGG GGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0121 a0001c0002t0008g0121	1	222	0.0045	510	c.914 others(529): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCGCCTC CTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCCC TCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCC GCCCCTCCCGCCCCCCCGCCCCCCCCGCCCCCCCGCCCCCCCCGCCTCCT CCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCC GCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCT CCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCC CCCTGCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCC CTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC		SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9						chr6	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(503): Show CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCT CCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCACCT CCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	160	0.0063	510	c.688 others(527): Show c.688-2442_688-2441insACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCT CCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCT CCACCTCCACCTCCTCCTCCACTTCCTCCTCC		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(503): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCC TCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCT CCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCC TCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCT CCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0065 a0002c0005t0006g0065	1	160	0.0063	510	c.688 others(527): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACTTCCTCCTCCACCTCC TCCTCTACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCT CTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCACCTCCACCTCCTCCTCCACTT		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(503): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCT CCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03041.hp2 HG02647.hp2 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0006g0112 a0002c0002t0002g0133 a0001c0001t0006g0112 a0002c0002t0002g0133	2	160	0.0125	510	c.688 others(527): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCACCTCCACCTCCTCCTCCACTT		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC35F1_chr6_117902264_118322671	117923611	A A	ATATGTAC others(503): Show ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATACATATGTATATATACATATATGTACATATGTACATAT ATACATATGTATATATACATATATGTACATATGTACATATATACATATGT ATATATGCATATATGTACATATGTACATATATACATATGTATATATGCAT ATATGTACATATGTACATATATACATATGTATATATGCATATATGTACAT ATATACATATGTATATATGCATATATGTACATATATACATATGTATATAT GCATATATGTACATATGTACATATATACATATGTATATATACATATATGT ACATATGTACATATGTACATATACATATATGTACATATGTACATATATGT ATATATACATATATGTACATATGTACATATGTACATATGTATATATACAT ATATGTACATATGTACATATGTACATATGTATATATACATATATGTACAT ATGTACATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0116 a0001c0001t0004g0116	1	182	0.0055	510	c.173 others(529): Show c.173+15714_173+15715insTGTACATATGTACATATATACATATG TATATATACATATATGTACATATGTACATATATACATATGTATATATACA TATATGTACATATGTACATATATACATATGTATATATACATATATGTACA TATGTACATATATACATATGTATATATGCATATATGTACATATGTACATA TATACATATGTATATATGCATATATGTACATATGTACATATATACATATG TATATATGCATATATGTACATATATACATATGTATATATGCATATATGTA CATATATACATATGTATATATGCATATATGTACATATGTACATATATACA TATGTATATATACATATATGTACATATGTACATATGTACATATACATATA TGTACATATGTACATATATGTATATATACATATATGTACATATGTACATA TGTACATATGTATATATACATATATGTACATATGTACATATGTACATATG TATATATACATATATGTACATATGTACATATGTA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(503): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	182	0.0055	510	c.173 others(529): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLX9_chr21_44935029_44981973	44981706	C C	CCCTGCAC others(503): Show CCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTG GACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCG GGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGG GACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTT CAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTG TGGTGTTCACGGGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCC TGCGTGTGGTGTTCACGGGGGACAGCGGGGCCTGGACGGGCCCTGCACAC AGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCC TGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGAC GGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGG CCTGGACGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0133 a0003c0003t0001g0133	1	334	0.0030	510	c.49 others(521): Show c.4903_*4904insCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGG GGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGT TCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGT GTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAG CCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCA CACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCGGGGCCTGGACGGGC CCTGCACACAGAGCCTGCGTGTGGTGTTCACGGGGGACAGCGGGGCCTGG ACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGG GCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGA CAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCA GGGGGGACAGCGGGGCCTGGACGGGG		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					4734		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981759	G G	GGGCCCTG others(503): Show GGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGC CTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACA GCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGG GGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGT GTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGC GTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAG AGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTG CACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACGG GGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCC TGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGC GGGGCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	334	0.0030	510	c.49 others(521): Show c.4956_*4957insGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAG AGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTG CGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACA GAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCT GCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGACG GGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGC CTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACA GCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGA GGGGACAGCGGGGCCTGGACGGGCCCTGCACACAGAGCCTGCGTGTGGTG TTCAGAGGGGACAGCGGGGCCTGGAC		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding					4787		chr21	TogoVar
SMIM36_chr17_55444856_55516452	55501090	A A	ATTATATA others(503): Show ATTATATATTATAATATATAATATACTATTTTATATTATAATATATAATA TATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTA TAATATAAAATATAATATACATTATATTTTATGATATATAATATACATTA TATTTTATGATATATAATATACATTATATTTTATGATATATAATATACAT TATATTTTATGATATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATATATTATATTTTATGATATATAAT ATATATTATATTTTATGATATATATTATATATTATATTTTATGATATATA ATATATATTATATTTTATGATATATAATATATATTATATTTTATGATATA TAATATATATTATATTTTATGATATATATTATATATTATATTTTATGATA TATATTATATT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	340	0.0029	510	c.17 others(529): Show c.174+9788_*174+9789insAATATAATATATATCATAAAATATAA TATATAATATATATCATAAAATATAATATATATTATATATCATAAAATAT AATATATATTATATATCATAAAATATAATATATATTATATATCATAAAAT ATAATATATAATATATATCATAAAATATAATATATATTATATATCATAAA ATATAATATATATTATATATCATAAAATATAATGTATATTATATATCATA AAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCA TAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATAT CATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATAT ATCATAAAATATAATGTATATTATATTTTATATTATAATATAAAATATAA TATATATTATATATTATAATATAAAATATAATATATATTATATATTATAA TATAAAATAGTATATTATATATTATAATATATAA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMOC2_chr6_168436184_168672992	168594729	C C	CGGGCATC others(503): Show CGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCC TCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTC ACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCC TCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGA GGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTA AGGCCTCATGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCT GAGGCCTCATGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAA GGCCTCACAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0064 a0001c0002t0002g0054 a0001c0002t0002g0064	2	180	0.0111	510	c.638 others(527): Show c.638-4055_638-4054insTCTTCCTGAGGCCTCACGGGCATCTTTC TAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTT CTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTT TCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCT TTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATC TTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCAT CTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCA TCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTAAGGCCTCATGGGC ATCTTTCTAGAGGATCGCGGAGCTCCTCCTCATTCCTGAGGCCTCATGGG CATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGCCTCACAAGGG GCATCTTTCTAGAGGATCTCCGAGCTCCTCCT		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(503): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03942.hp2 NA18968.hp1 others(1): Show HG00558.hp2 HG03942.hp2 NA18968.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0011 a0001c0003t0035 others(1): Show a0001c0002t0001 a0001c0003t0011 a0001c0003t0035 a0001c0004t0080	a0001c0002t0001g0073 a0001c0003t0011g0302 a0001c0003t0035g0068 others(1): Show a0001c0002t0001g0073 a0001c0003t0011g0302 a0001c0003t0035g0068 a0001c0004t0080g0179	4	356	0.0112	510	c.-11 others(531): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(503): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TATAACATATG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19030.hp1 NA19002.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0014 a0001c0004 a0004c0014	a0001c0004t0038 a0004c0014t0036 a0001c0004t0038 a0004c0014t0036	a0001c0004t0038g0108 a0004c0014t0036g0201 a0001c0004t0038g0108 a0004c0014t0036g0201	2	356	0.0056	510	c.-11 others(531): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATATAACATATGATA		SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(503): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGA AGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGG GGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	251	0.0040	510	c.34 others(519): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTC CCCCTCCCCCTTCCCCCTTCCCCT		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding					130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(503): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAG GGGGAAGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGG GGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGA AGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGG GAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGG GGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0084 a0001c0010t0001g0084	1	251	0.0040	510	c.34 others(519): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTC CCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCG TTCCCGCTTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTC CCCCTCCCCCTTCCCCCTTCCCCT		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding					130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46170127	G G	GCCCCCTG others(503): Show GCCCCCTGCTCCGTGAACATCCTCTGTGGATGGGGAGGAGCCTCCTGCTC TGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATC CTCTGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCC AGGAGGAGCCTCCTGCTCTGTGAACATCCTCTGTGGATGGGGAGGAGCCT CCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTGCTCTGT GAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTTCTCTGTGAACATCCTCT GTGGATGTGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGATGGGGA GGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGATGGGGAGGAGCCTCCTG CTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGTGAACA TCCTCTGTGGATGGGGAGGAGCCCCCTGCTCTGTGAACATCCTCTGTGGA TGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG00140.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0075 a0001c0001t0001g0092	2	251	0.0080	510	c.194 others(527): Show c.194-1470_194-1469insGCTCCTCCCCATCCACAGAGGATGTTCA CAGAGCAGGGGGCTCCTCCCCATCCACAGAGGATGTTCACAGAGCAGGAG GCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCA TCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGA TGTTCACAGAGCAGGGGGCTCCTCCACATCCACAGAGGATGTTCACAGAG AAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAGGAGGCTCC TCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTCCCCATCCA CAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAGAGGATGCT CACAGAGCAGGAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGG GAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGAGGCTCCTCC CCATCCACAGAGGATGTTCACGGAGCAGGGGG		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4						chr21	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(503): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGACAGG GAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAG GGGGGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGG AGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0098 a0001c0004t0001g0098	1	256	0.0039	510	c.22 others(521): Show c.2270_*2271insGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGG AGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGG AGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGG AGGGAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAG GGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGG GAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGA GAGGGAGAGAGAGGGAGAGAGAGGGA		STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding					1888		chr12	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(503): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATATTATATATATTATATATTATATAACTATATATTATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATAATATAACTATATATTATAT ATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0233 a0001c0001t0022g0233	1	268	0.0037	510	c.73 others(521): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATTATATATATTATATATTATATA ACTATATATTATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATAATAT AACTATATATTATATATAATATATAG		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					3940		chr10	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGA others(503): Show GGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGTAGAGCTCACGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAG CTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGG CGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCA GAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATG GGGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACA GCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0293 a0001c0005t0017g0293	1	352	0.0028	510	c.299 others(527): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCATGAGCTCTG CTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGC TCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCC CGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGA GCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTG AGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCACCTCACCCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCG TGAGCTCTACTGTCCCCTTCCCGCCTCACCCC		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TENM4_chr11_78647829_79446030	79139245	T T	TATATATT others(503): Show TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA TATATATTATATTTCTATAAATATATAAAATATATATTATATTTCTATAA ATATATAAAATATATATTATATTTCTATAAATATATAAAATATATATTAT ATTTCTATAAATATATAAAATATATATTATATTTCTATAAATATATAAAA CATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTATAA ATATATAAAACATATATTATATTTCTATAAATATATAAAACATATATTAT ATTTCTATAAATATATAAAACATATATTATATTTCTATAAATATATAAAA CATATATTATATTTCTATAAATATATAAAACATATATTATATTTCTATAA ATATATAAAAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0033 a0001c0021t0002g0033	1	94	0.0106	510	c.-66 others(527): Show c.-66+9464_-66+9465insGTTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATGTTTTATATATTTATAGAAATATAATATATGTTTTATA TATTTATAGAAATATAATATATGTTTTATATATTTATAGAAATATAATAT ATGTTTTATATATTTATAGAAATATAATATATGTTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATATATTTTATATATTTATAGA AATATAATATATATTTTATATATTTATAGAAATATAATATATATTTTATA TATTTATAGAAATATAATATATATTTTATATATTTATAGAAATATAATAT ATATTTTATATATTTATAGAAATATAATATAT		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
THNSL2_chr2_88165346_88191627	88181111	C C	CTCCTCTC others(503): Show CTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0015 a0004c0004t0006g0015	1	54	0.0185	510	c.803 others(527): Show c.803-1588_803-1587insTCCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTC TTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCT		THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8						chr2	TogoVar

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Search Results (Total: 10000 hits)