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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(1080): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGGGTCAGA CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTG GAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACA CTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGA GTCAGACCAAGGTTGCAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGCTGGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	242	0.0041	1087	c.360 others(1106): Show c.360+26940_360+26941insTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTGCAA CCTTGGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCG GGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC CACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCT GACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGG TACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCC AGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTG GTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
SDK1_chr7_3296252_4274000	3977277	C C	CGGTCCTC others(1080): Show CGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACA GACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCG AGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGGGT CCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0009 a0009	a0009c0082 a0009c0082	a0009c0082t0001 a0009c0082t0001	a0009c0082t0001g0076 a0009c0082t0001g0076	1	116	0.0086	1087	c.199 others(1106): Show c.1994+2752_1994+2753insGGGGTCCCGGGGCTGAGGCTGCCACA CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC ACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCC GGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGG GTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGG GGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTG GGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SPATA3_chr2_230991121_231013040	231005580	T T	TCATCACC others(1080): Show TCATCACCACCACCATCATCACCACCACCATCACCATCATCACCACCACC ATCACCATCATCATCACCACCACCACCATCATCACATCACTATCATCACC ACCACCATCACCATCATCATCACCATCACCATCATCACCATCACCATCAC CACCATCAACATCACCATCATCACCATCACCATCATCACCACCATCATCA CCATCACCATCACCACCATCATCATCACCATCACCATCATCATCATCACC ACCATCATCACCACCATTACCATCATCATCACTATCACCACCACCACCAT CACCATCACCACCATCACCATCACCACCACCACCATCACCATCACCACCA CCACCATCACCATCATCACCACCACCACCATCACCATCACCACCACCACC ACCATCATCACTACCACCACCACCATCATCACCACCATCATCACCACCAT GACCATCGTCACCACCACCATCATCACCACCATAATCACCACCACCATCA TCACCGTCACCATCATCACCACTACCATCACCACCACCACCATCATCACC ACCACCATCATCACCATCATCATATCATCACCATCATCATCATCATCACC ACCACCATCATCACCACCACCACCATCATCATCACCACCACCACCATCAT CACCATCATCATCACCATCACCATCATCATAACCATCACTATCACCACCA TCATCACCATCATCATCACCATCACCATCATCATAACCATCACTATCACC ACCACCACCACCATCACCACCACCATCACCATCATCACTGCCATCATCAC CATCACCATCATCACCACCACCATCACCACCACCATCACCACCACCACCA CCATCACCATCACCATCACCACCACCACCATCACCATCATCACCGCCATC ATCACCATCACCATCACCACCACCATTGCCATCATCACCGCCATCATCAC CATCACCATCACCATCACCACCAGCATCACCATCATCATCACCACCACCA TCATCACCATCATTACCACCATCACCATCAGCATCGCGATCATCATCACC ATTATCATCACCACCACCATCATCACCATCATCATCAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	436	0.0023	1087	c.11 others(1106): Show c.118+1467_*118+1468insCCACCACCATCATCACCACCACCATC ACCATCATCACCACCACCATCACCATCATCATCACCACCACCACCATCAT CACATCACTATCATCACCACCACCATCACCATCATCATCACCATCACCAT CATCACCATCACCATCACCACCATCAACATCACCATCATCACCATCACCA TCATCACCACCATCATCACCATCACCATCACCACCATCATCATCACCATC ACCATCATCATCATCACCACCATCATCACCACCATTACCATCATCATCAC TATCACCACCACCACCATCACCATCACCACCATCACCATCACCACCACCA CCATCACCATCACCACCACCACCATCACCATCATCACCACCACCACCATC ACCATCACCACCACCACCACCATCATCACTACCACCACCACCATCATCAC CACCATCATCACCACCATGACCATCGTCACCACCACCATCATCACCACCA TAATCACCACCACCATCATCACCGTCACCATCATCACCACTACCATCACC ACCACCACCATCATCACCACCACCATCATCACCATCATCATATCATCACC ATCATCATCATCATCACCACCACCATCATCACCACCACCACCATCATCAT CACCACCACCACCATCATCACCATCATCATCACCATCACCATCATCATAA CCATCACTATCACCACCATCATCACCATCATCATCACCATCACCATCATC ATAACCATCACTATCACCACCACCACCACCATCACCACCACCATCACCAT CATCACTGCCATCATCACCATCACCATCATCACCACCACCATCACCACCA CCATCACCACCACCACCACCATCACCATCACCATCACCACCACCACCATC ACCATCATCACCGCCATCATCACCATCACCATCACCACCACCATTGCCAT CATCACCGCCATCATCACCATCACCATCACCATCACCACCAGCATCACCA TCATCATCACCACCACCATCATCACCATCATTACCACCATCACCATCAGC ATCGCGATCATCATCACCATTATCATCACCACCACCATCATCACCATCAT CATCACCATCA	SPATA3	ENSG00000173699.17	transcript	ENST00000433428.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SUFU_chr10_102498972_102638535	102637395	T T	TATATATT others(1080): Show TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATAACTAAATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATTATATATATATTATATATTATATAA CTATATATTATATATATATATTATATATTATATAACTATATATTATATAT ATATTATATTATATAACTATATATTATATATTATATATATTATATATTAT ATAACTATATATTATATATAATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATATATATTATATATTATATAACTATATATTATATATATATATTA TATATTATATAACATATATTATATATATATATTATATATTATATAACTAT ATATTATATATATATATTATATATTATATAACTATATATTATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0089 a0001c0002t0030g0089	1	268	0.0037	1087	c.72 others(1098): Show c.7240_*7241insATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTAAATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATTATATATAATATATATATTATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATTATATATATA TTATATATTATATAACTATATATTATATATATATATTATATATTATATAA CTATATATTATATATATATTATATTATATAACTATATATTATATATTATA TATATTATATATTATATAACTATATATTATATATAATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATATATATTATATATTATATAACTATATAT TATATATATATATTATATATTATATAACATATATTATATATATATATTAT ATATTATATAACTATATATTATATATATATATTATATATTATATAACTAT ATATTATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3861		chr10	TogoVar
TMEM68_chr8_55733758_55778378	55744308	T T	TAAAATAT others(1080): Show TAAAATATCATCAAAGGAATCCAAAACAGGCAGGCCATATGGAACACGCA GTCATGGATTGTACCAAAAGTTGAAAGTATTGCTTACACATCAAAACACA GAAATACACCCTATCCTACAGGTCACACACACACACACACACACACACAC ACACACACAAAATCACTAGATACTAATTTTTGGAATATTCAACTTTAAAG TAAAAAAAGTAAAAAAAAAAAAATCACAGGTAAAATGAATAAACAAAACT TCTGGAATAATTTCTGATTTGCCATTAAATTCTAAATAAATGAGCCAAGA AAAAATTAGAAGAAATAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCA ATACTCTGGAAGACCAAGGCGGGGGGCGGGGGGGGCGTGGATCACCTGAG GTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCTTGTCTCTGC TAAAAATACAAAAATTAGCTAGGCATGCTGGCACATGCCTGTAGTCCCAG CTACTCTGGAGGCTGAGGTGGGAGAATCACTTGAAGCTGAGAGGTGGAGG TTGCAGTGAGCCGAAATCATGCCAGCATACTCCAGCCTGGGCAATAGAGA GAGACTCTGTCTCAAAAAAAAAAAATGTAAATAAATAAATAAATAAATAA ATCCACACAAAAGTTAAAGATCTCATCAATCTTCCTTTCCACTTTAAATC TGATAAAAAGGGAAAAAAATAAGACTTAAAAAACAATGCAGTACCAACAA AATAGCAATGTTATACATAAAAGAAACAAGGACAGTTTAAAGCTCTTCAG AAGGGGACTTGTAAGTAGATAGGAACATTAACAATAATAGCGCTAGGATA AAAAACAAAACAAAACAAATAATGCCAGGAATATGTAATATAATCAATTA AATATAATACACAAACCATAGGATACAATAACAAGCTGAATACTTCAAAA TAAGAAACAGGTATTGCAAAGAAAAAGCACACCTAATCATTAACATTGCT ATAATTACATTAAAATCTGATTTTTTAAATCTATAAATAAAGGATAGGTA AAAAGAACTTTCCAGTGTAAATGTATTATGGTACAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19030.hp1 HG02109.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0068 a0001c0001t0006g0186 a0001c0001t0006g0068 a0001c0001t0006g0186	2	372	0.0054	1087	c.749 others(1102): Show c.749-689_749-688insTTTTGTACCATAATACATTTACACTGGAAA GTTCTTTTTACCTATCCTTTATTTATAGATTTAAAAAATCAGATTTTAAT GTAATTATAGCAATGTTAATGATTAGGTGTGCTTTTTCTTTGCAATACCT GTTTCTTATTTTGAAGTATTCAGCTTGTTATTGTATCCTATGGTTTGTGT ATTATATTTAATTGATTATATTACATATTCCTGGCATTATTTGTTTTGTT TTGTTTTTTATCCTAGCGCTATTATTGTTAATGTTCCTATCTACTTACAA GTCCCCTTCTGAAGAGCTTTAAACTGTCCTTGTTTCTTTTATGTATAACA TTGCTATTTTGTTGGTACTGCATTGTTTTTTAAGTCTTATTTTTTTCCCT TTTTATCAGATTTAAAGTGGAAAGGAAGATTGATGAGATCTTTAACTTTT GTGTGGATTTATTTATTTATTTATTTATTTACATTTTTTTTTTTTGAGAC AGAGTCTCTCTCTATTGCCCAGGCTGGAGTATGCTGGCATGATTTCGGCT CACTGCAACCTCCACCTCTCAGCTTCAAGTGATTCTCCCACCTCAGCCTC CAGAGTAGCTGGGACTACAGGCATGTGCCAGCATGCCTAGCTAATTTTTG TATTTTTAGCAGAGACAAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAA CTTCTGACCTCAGGTGATCCACGCCCCCCCCGCCCCCCGCCTTGGTCTTC CAGAGTATTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTATTTCTTC TAATTTTTTCTTGGCTCATTTATTTAGAATTTAATGGCAAATCAGAAATT ATTCCAGAAGTTTTGTTTATTCATTTTACCTGTGATTTTTTTTTTTTTAC TTTTTTTACTTTAAAGTTGAATATTCCAAAAATTAGTATCTAGTGATTTT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACCTGTAGGATAGGG TGTATTTCTGTGTTTTGATGTGTAAGCAATACTTTCAACTTTTGGTACAA TCCATGACTGCGTGTTCCATATGGCCTGCCTGTTTTGGATTCCTTTGATG ATATTTT	TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	6/7			chr8	TogoVar
TMEM68_chr8_55733758_55778378	55744308	T T	TAAAATAT others(1080): Show TAAAATATCATCAAAGGAATCCAAAACAGGCAGGCCATATGGAACACGCA GTCATGGATTGTACCAAAAGTTGAAAGTATTGCTTACACATCAAAACACA GAAATACACCCTATCCTACAGGTCACACACACACACACACACACACACAC ACACACACAAAATCACTAGATACTAATTTTTGGAATATTCAACTTTAAAG TAAAAAAAGTAAAAAAAAAAAAATCACAGGTAAAATGAATAAACAAAACT TCTGGAATAATTTCTGATTTGCCATTAAATTCTAAATAAATGAGCCAAGA AAAAATTAGAAGAAATAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCA ATACTCTGGAAGACCAAGGCGGGGGGCGGGGGGGGGCGTGGATCACCTGA GGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCTTGTCTCTG CTAAAAATACAAAAATTAGCTAGGCATGCTGGCACATGCCTGTAGTCCCA GCTACTCTGGAGGCTGAGGTGGGAGAATCACTTGAAGCTGAGAGGTGGAG GTTGCAGTGAGCCGAAATCATGCCAGCATACTCCAGCCTGGGCAATAGAG AGAGACTCTGTCTCAAAAAAAAAAAAGTAAATAAATAAATAAATAAATAA ATCCACACAAAAGTTAAAGATCTCATCAATCTTCCTTTCCACTTTAAATC TGATAAAAAGGGAAAAAAATAAGACTTAAAAAACAATGCAGTACCAACAA AATAGCAATGTTATACATAAAAGAAACAAGGACAGTTTAAAGCTCTTCAG AAGGGGACTTGTAAGTAGATAGGAACATTAACAATAATAGCGCTAGGATA AAAAACAAAACAAAACAAATAATGCCAGGAATATGTAATATAATCAATTA AATATAATACACAAACCATAGGATACAATAACAAGCTGAATACTTCAAAA TAAGAAACAGGTATTGCAAAGAAAAAGCACACCTAATCATTAACATTGCT ATAATTACATTAAAATCTGATTTTTTAAATCTATAAATAAAGGATAGGTA AAAAGAACTTTCCAGTGTAAATGTATTATGGTACAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp2 HG03927.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0079 a0001c0001t0006g0198 a0001c0001t0001g0079 a0001c0001t0006g0198	2	372	0.0054	1087	c.749 others(1102): Show c.749-689_749-688insTTTTGTACCATAATACATTTACACTGGAAA GTTCTTTTTACCTATCCTTTATTTATAGATTTAAAAAATCAGATTTTAAT GTAATTATAGCAATGTTAATGATTAGGTGTGCTTTTTCTTTGCAATACCT GTTTCTTATTTTGAAGTATTCAGCTTGTTATTGTATCCTATGGTTTGTGT ATTATATTTAATTGATTATATTACATATTCCTGGCATTATTTGTTTTGTT TTGTTTTTTATCCTAGCGCTATTATTGTTAATGTTCCTATCTACTTACAA GTCCCCTTCTGAAGAGCTTTAAACTGTCCTTGTTTCTTTTATGTATAACA TTGCTATTTTGTTGGTACTGCATTGTTTTTTAAGTCTTATTTTTTTCCCT TTTTATCAGATTTAAAGTGGAAAGGAAGATTGATGAGATCTTTAACTTTT GTGTGGATTTATTTATTTATTTATTTATTTACTTTTTTTTTTTTGAGACA GAGTCTCTCTCTATTGCCCAGGCTGGAGTATGCTGGCATGATTTCGGCTC ACTGCAACCTCCACCTCTCAGCTTCAAGTGATTCTCCCACCTCAGCCTCC AGAGTAGCTGGGACTACAGGCATGTGCCAGCATGCCTAGCTAATTTTTGT ATTTTTAGCAGAGACAAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAAC TTCTGACCTCAGGTGATCCACGCCCCCCCCCGCCCCCCGCCTTGGTCTTC CAGAGTATTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTATTTCTTC TAATTTTTTCTTGGCTCATTTATTTAGAATTTAATGGCAAATCAGAAATT ATTCCAGAAGTTTTGTTTATTCATTTTACCTGTGATTTTTTTTTTTTTAC TTTTTTTACTTTAAAGTTGAATATTCCAAAAATTAGTATCTAGTGATTTT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACCTGTAGGATAGGG TGTATTTCTGTGTTTTGATGTGTAAGCAATACTTTCAACTTTTGGTACAA TCCATGACTGCGTGTTCCATATGGCCTGCCTGTTTTGGATTCCTTTGATG ATATTTT	TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	6/7			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507379	T T	TACGTATA others(1080): Show TACGTATATATACATGTATTATACATACATAAATGTATATACGTATATAT ACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTAT ACATACATAAATGTATATACGTATATATACATGTATTATACATACATAAA TGTATATACGTATATATACATGTATTATACATACATAAATGTATATACGT ATATATACATGTATTATACATACATAAATGTATATACGTATATATACATG TATTATACATACATAAATGTATATACGTATATATACATGTATTATACATA CATAAATGTATATACGTATATATACATGTATTATACATACATAAATGTAT ATACGTATATATACATGTATTATACATACATAAATGTATATACGTATATA TACATGTATTATACATACATAAATGTATATACGTATATATACATGTATTA TACATACATAAATGTATATACGTATATATACATGTATTATACATACATAA ATGTATATACGTATATATACATGTATTATACATACATAAATGTATATACG TATATATACATGTATTATACATACATAAATGTATATACGTATATATACAT GTATTATACATACATAAATGTATATACGTATATATACATGTATTATACAT ACGTAAATGTATATATACATTATACATACGTAAATGTATATATGTATATA TACATTATACATACGTAAATGTATATATGTATATATACATTATACATACG TAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATATATACATTATACATA CGTAAATGTATATATGTATATATACATTATACATACGTAAATGTATATAT GTATATATACATTATACATACGTAAATGTATATATGTATATATACATTAT ACATACGTAAATGTATATATGTATATATACATTATACATACGTAAATGTA TTATACATAAATGTATATATGTATATATACATGTATTATACATACATAAA TGTATATATGTATATATACATGTATTATACATACATAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19058.hp1 NA18949.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0252 a0001c0001t0004g0253	2	388	0.0052	1087	c.-23 others(1104): Show c.-23+2668_-23+2669insTTATGTATGTATAATACATGTATATATA CATATATACATTTATGTATGTATAATACATGTATATATACATATATACAT TTATGTATAATACATTTACGTATGTATAATGTATATATACATATATACAT TTACGTATGTATAATGTATATATACATATATACATTTACGTATGTATAAT GTATATATACATATATACATTTACGTATGTATAATGTATATATACATATA TACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTA TAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTAT GTATAATGTATATATACATATATACATTTACGTATGTATAATGTATATAT ACATTTACGTATGTATAATACATGTATATATACGTATATACATTTATGTA TGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATACA TGTATATATACGTATATACATTTATGTATGTATAATACATGTATATATAC GTATATACATTTATGTATGTATAATACATGTATATATACGTATATACATT TATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTAT AATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTAT ATATACGTATATACATTTATGTATGTATAATACATGTATATATACGTATA TACATTTATGTATGTATAATACATGTATATATACGTATATACATTTATGT ATGTATAATACATGTATATATACGTATATACATTTATGTATGTATAATAC ATGTATATATACGTATATACATTTATGTATGTATAATACATGTATATATA CGTATATACATTTATGTATGTATAATACATGTATATATACGTATATACAT TTATGTATGTATAATACATGTATATATACGTATATACATTTATGTATGTA TAATACATGTATATATACGTATATACATTTATGTATGTATAATACATGTA TATATACGT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
U2AF2_chr19_55650035_55679716	55670482	T T	TCCGTGCA others(1080): Show TCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGCCCGTGCACCCT GCTGCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0083 a0001c0007t0002g0083	1	394	0.0025	1087	c.129 others(1104): Show c.1293+808_1293+809insCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCA CCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGCCCGTGCAC CCTGCTGCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACC CTGCTGTCC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
U2AF2_chr19_55650035_55679716	55670482	T T	TCCGTGCA others(1080): Show TCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCC GTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGT GCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCC TGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGCCCGTGCACCCT GCTGCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCT GCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTG CTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0084 a0001c0002t0002g0084	1	394	0.0025	1087	c.129 others(1104): Show c.1293+808_1293+809insCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCCTGTGCACCCTGCT GTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGT CCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGT CCCTGCACCCTGCTGTCCCTGCACCCTGCTGTCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCC CGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTC CGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCC TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGC ACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCTGCA CCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGCCCGTGCAC CCTGCTGCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACC CTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACC CTGCTGTCCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGCACC CTGCTGTCC	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1081): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02976.hp2 HG02572.hp1 HG02976.hp2	a0007 a0047 a0007 a0047	a0007c0016 a0047c0059 a0007c0016 a0047c0059	a0007c0016t0003 a0047c0059t0003 a0007c0016t0003 a0047c0059t0003	a0007c0016t0003g0051 a0047c0059t0003g0012 a0007c0016t0003g0051 a0047c0059t0003g0012	2	360	0.0056	1088	c.170 others(1109): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1081): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGG GGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0007 a0007	a0007c0032 a0007c0032	a0007c0032t0003 a0007c0032t0003	a0007c0032t0003g0020 a0007c0032t0003g0020	1	360	0.0028	1088	c.170 others(1109): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGCGGAGGGGGGGTCGGCCAGCCGCCCTGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCC	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS3_chr4_72275969_72574221	72456215	T T	TTTATGTA others(1081): Show TTTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTAT ATATAGTATGTACTATATATATTTTATATATAGTATGTACTATATATATT TTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGTATAG TATGTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTAT ATATATTTTATACATAGTATATACATTGTATATACTATATATATTTTATA CATAGTATATACAATGTATATACTATATATATTTTATATATAGTATATAC ACTGTATATACTATATATATTTTATATATAGTATATACACTGTATATACT ATATATATTTTATATATAGTATATACACTGTATATACTATATATATTTTA TATATAGTATATACACTGTATATACTATATATATTTTATATATAGTATAT ACAGTGTATATACTATATATATTATATATATAGTATATACACTGTATATA CTATATATATTATATATATAGTATATACACTGTATATACTATATATATTT TAGATATAGTATATACACTGTATATACTATATATATTTTAGATATAGTAT ATACACTGTATATACTATATATATTTTATATATAGTATATACACTGTATA TACTATATATATTTTATATATAGTATATACACTGTATATACTATATATAT TTTATATATAGTATATACACTGTATATACTATATATATTTTATATATAGT ATATACACTGTATATACTATATATATTTTATATATAGTATATACACTGTA TATACTATATATATTTTATATATAGTATATACACTGTATATACTATATAT ATTTTATATATAGTATATACACTGTATATACTATATATATTTTATATATA GTATATACACTGTATATACTATATATTTTATATATAGTATATACACTGTA TATACTATATATATTTTATATATAGTATATACACTGTATATACTATATAT ATTTTATATATAGTATATACACTGTATATACTATATATATTTTATATATA GTATATATACTGTATATACTATATATATTTTATATATAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0007 a0001c0006t0005g0007	1	182	0.0055	1088	c.505 others(1107): Show c.505-41245_505-41244insCTATATATAAAATATATATAGTATAT ACAGTATATATACTATATATAAAATATATATAGTATATACAGTGTATATA CTATATATAAAATATATATAGTATATACAGTGTATATACTATATATAAAA TATATATAGTATATACAGTGTATATACTATATATAAAATATATAGTATAT ACAGTGTATATACTATATATAAAATATATATAGTATATACAGTGTATATA CTATATATAAAATATATATAGTATATACAGTGTATATACTATATATAAAA TATATATAGTATATACAGTGTATATACTATATATAAAATATATATAGTAT ATACAGTGTATATACTATATATAAAATATATATAGTATATACAGTGTATA TACTATATATAAAATATATATAGTATATACAGTGTATATACTATATATAA AATATATATAGTATATACAGTGTATATACTATATATAAAATATATATAGT ATATACAGTGTATATACTATATCTAAAATATATATAGTATATACAGTGTA TATACTATATCTAAAATATATATAGTATATACAGTGTATATACTATATAT ATAATATATATAGTATATACAGTGTATATACTATATATATAATATATATA GTATATACACTGTATATACTATATATAAAATATATATAGTATATACAGTG TATATACTATATATAAAATATATATAGTATATACAGTGTATATACTATAT ATAAAATATATATAGTATATACAGTGTATATACTATATATAAAATATATA TAGTATATACAGTGTATATACTATATATAAAATATATATAGTATATACAT TGTATATACTATGTATAAAATATATATAGTATATACAATGTATATACTAT GTATAAAATATATATAGTACATACTATACATAAAATATATATATAGTATA TACAATGTACATACTATACATAAAATATATATATAGTATATACAATGTAC ATACTATACATAAAATATATATAGTACATACTATATATAAAATATATATA GTACATACTATATATAAAATATATATAGTACATACTATATATAAAATATA TATAGTACATAA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1081): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAGG GGGAGGGGAGGGGGAGGGGAAGGGGAAGAGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGG GAAGGGGGAAGGGGGATGAGGAAGGGGGAAGGGGGATGGGGAAGGGGGAT AGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGG ATGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAAGGGGGATG GGGAAGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGGGATGGGGA AGGGGGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGG GGGAAGGTCGATGGGGAAGGGGGATGGGAAGGGGAGGGGAAGGGTGGAAG GGGGATGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGA TGGGGAAGGGGGATGGGGAAGGGGGGCAGGGGGATGGGGAAGGGGGATGG GGAAGGGGGATGGGGAAGGGGGATGGGGAAGAGGAGATGGGGAAGGGGGG ATGGGGAAGGGAGATGGGGAAGGGGAGGGGGAGGGGGAAGGGGAGGGGGA GGGGGAAGGGGGATGGGGAGGGGGAGGAGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	238	0.0042	1088	c.787 others(1103): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTC CCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATC GACCTTCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCC CATCCCCCTTCCCCATCCCCCTTCCCCATCGACCTTCCCCCTTCCCCATC CCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCCCATCCCC CTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCC CCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCT TCCCCCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCT TCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCCCCTTCCCCTCCCCC TCCCCTCCCCCTTCCCCACCCCATCCCCCTTCCCTATCCCCCTCCCCTCC CCCCTCCCCATCCCCTCCCCCTCCCCCTTCCCCACCCCCATCCCCCTTCC CCATCCCCCTTCGCCTCCCCCTCCCCTCCACCTCCCCATCCCCTCCACCT CCCCATCCCCTCCACGTCCCCCTCCCCTCCAACCTCCCCCTCCCCTCCAA CCTCCCCCTTCCCCTTCATCCTCTCCCTCTGTTTTCCCCCTTCCCCTTCA TCCTCTTCCTCTGTTTTCCCCCTTCTCTTTCCCCTCCCCTTCCCCTCCCC TTTCTCCTCCCCTTCCATTCCCGTTTCTCCTCCCTTTCCCCTCCCCTTTC CCCTCCCCTTCCCCTCCCCTTTTGCCTCCCATTTCCCCTCCCGTTTCCCC TCCCCTTTTTTCTCTCCCCTTTTTCCTCTCCTTTTTCCCTCTCCCTCCTC CCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP19_chr10_97217179_97297637	97251448	G G	GGAAGGGG others(1081): Show GGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAG GGAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGG GAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGG AAAAGGGAAGGAGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAG GGAAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAG GGGAAGGGGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGGAAGGGGAAT GGAAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGG AAGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGG GGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG AAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGGGA AAGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGA AAAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGA AGGAAGGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAA GGGGAAGGGAAGGGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGG AGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAG GGAAGGTGGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAG GGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAA GGGAAAGGAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAG GGAAGAGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGG GAAAAGGAGAAGAAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAG GAAGGGGGAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	242	0.0041	1088	c.927 others(1105): Show c.927+4869_927+4870insATCTTCCCCTTCCCTTTCCCTTCCCCTC CCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCTTCCTTTCC CCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCTTC TTCTCCTTTTCCCTTCCCCTTCCCCTCCCCTTCTCCTTCCCTTCCCCTTC CTTTCTCTTCCCTTCCCCTTCCCTTCCCTTCCCCTTTCCTTTCCCTCCCC CTTCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCTTCCCCTCCCCCTTCC CTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCCCTTCC TTCCACCTTCCCTTCCCCCCCTTCCTTTCCCCTTCCCCTCCCCTTCCCCT CCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCTTTCCCC TTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCC TCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTT CTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCT TCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCTT CCCCTTCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCCTCCCCCTTCCCTT TCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCTTCCCCTTC CTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCCTCTCCCTTTCT TTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCT TTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCT CCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTCCCCCTTCCTTCC TTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCC CTTCCCCTTC	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1081): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAG AAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAG GAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAG AAAGGGAGAGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAG GGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGG GAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGG AGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAG GGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATGGAA GGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAG GGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGGCAAG GGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGG GAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAGGGAAGG GGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGGAGG GGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGTGGAAGGAAGGGGAAGGGG AATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGGAGGGG AAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAGGGGGAGGGAAAGGA AAGGGGAAGGGAAGGGGAAGGGAAGAGAAAGGAAGGGGAAGGGAAGGAGA AGGGGAGGGGAAGGGGAAGGGAAAAGGAGAAGAAGAGGGGAAGGGGAGGG GAAGGGAAGGGGAAAGGAAGGAAGGGGGAGGGGAAAGGAAGGAAGGGGGA GGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGA AGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 HG02615.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0238 a0001c0001t0005g0236 a0001c0001t0005g0238	2	242	0.0083	1088	c.927 others(1105): Show c.927+4817_927+4818insCCCCTTCCCCTCCTCTTCTCCTTCCTTT TCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCC TCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTC CCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCT TCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTT CCCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTC CCTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCT TCCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCC TTTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCC TTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTC CTTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCT TTTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCC TTTCCCTTCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCT TTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCC CCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCC CCTTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCC TCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCC TCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTT CCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCT TCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTCCCCCTTCCTT CCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1081): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAG AAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAG GAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAG AAAGGGAGAGGGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGA AGGGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAA GGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGG GAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGA GGGAAAGGAAAGGGGAATGGAAGGGAAGGGAAAGGAAGGGGAAGGGAAGG GGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAA GGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGG GAAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGG GAAGGGAAGGGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGG GGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGA AGGTGGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGA AGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGG AAAGGAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGA AGAGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAA AAGGAGAAGAAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAA GGGGGAGGGGAAAGGAAGGAAGGGAGGAGGGGAAGGGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGA AGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	242	0.0041	1088	c.927 others(1105): Show c.927+4817_927+4818insCCCCTTCCCCTCCTCTTCTCCTTCCTTT TCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCC TCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCCCTTCCTTCCTT TCCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCTC TTCTTCTCCTTTTCCCTTCCCCTTCCCCTCCCCTTCTCCTTCCCTTCCCC TTCCTTTCTCTTCCCTTCCCCTTCCCTTCCCTTCCCCTTTCCTTTCCCTC CCCCTTCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCTTCCCCTCCCCCT TCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCCCT TCCTTCCACCTTCCCTTCCCCCCCTTCCTTTCCCCTTCCCCTCCCCTTCC CCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCTTTC CCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTTC CCCTCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCC CTCCCCTTCCCTTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCT CCTCCCCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCATTCCCC TTTCCTTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCC TTCCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTC CCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCC TCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTT CCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCT TCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTCCCCCTTCCTT CCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25758488	C C	CCACCTGC others(1081): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCCATCACCTGCTCCACCCTAACTCATTCCGA CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCA TTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCCATCACCTGCTCCACCCTAACTCATTCCCACCAC CTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCCACCACCTGCTCCACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0067 a0002c0067	a0002c0067t0001 a0002c0067t0001	a0002c0067t0001g0053 a0002c0067t0001g0053	1	300	0.0033	1088	c.655 others(1107): Show c.655-22348_655-22347insATCGGAATGAGTTAGGGTGGAGCAGG TGGTGGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGT TAGGGTGGAGCAGGTGGTGGGAATGAGTTAGGGTGGAGCAGGTGATGGGA ATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATGGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(1081): Show ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG CATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGTGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGTGTAGGGG CCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0022 a0022	a0022c0114 a0022c0114	a0022c0114t0006 a0022c0114t0006	a0022c0114t0006g0189 a0022c0114t0006g0189	1	338	0.0030	1088	c.300 others(1105): Show c.300-9309_300-9308insCCGGAGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGG CATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGC ATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44181720	C C	CACATACA others(1081): Show CACATACAGACACAACCACACCACACACACACACACACTCACAGACACAA CCACACCACACACACATACACACTCACATACAGACACAACCACACCACAC TCACACATACACACTCATACAGACACAACCACACCACACTCACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACATACACACTCACATACAGAC AACCACACCACACTCACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACTCACATACAGACACAACCACACCACACTCACACATACAC ACTCACATACAGACACAACCACACCACACTCACACACACACATACACACT CACATACAGACACAACCACACCACACTCACACACACACACATACACACTC ACATACAGACACAACCACACCACACACACACATACACACTCACATACAGA CACAACCACACCACACTCACACACACATACACACTCACATACAGACACAA CCACACCACACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACATACACACTCACATACAGACACAACCACACCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACTCACATACAGACACAACCACA CCACACACACACACTCACAGACACAACCACACCACACACACATACACACT CACATACAGACACAACCACACCACTCACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACATACACACTCACAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0370 a0008c0008t0001g0370	1	460	0.0022	1088	c.193 others(1105): Show c.1938+403_1938+404insTACAGACACAACCACACCACACACACAC ACACACTCACAGACACAACCACACCACACACACATACACACTCACATACA GACACAACCACACCACACTCACACATACACACTCATACAGACACAACCAC ACCACACTCACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACATACACACTCACATACAGACACAACCACACCACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAT ACACACTCACATACAGACAACCACACCACACTCACACACACATACACACT CACATACAGACACAACCACACCACACTCACACACACACATACACACTCAC ATACAGACACAACCACACCACACACACACTCACATACAGACACAACCACA CCACACTCACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACTCA CATACAGACACAACCACACCACACACACACACTCACAGACACAACCACAC CACACACACATACACACTCACATACAGACACAACCACACCACTCACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(1081): Show TGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGCCAAGGT GAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAA GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0028 a0028	a0028c0020 a0028c0020	a0028c0020t0002 a0028c0020t0002	a0028c0020t0002g0022 a0028c0020t0002g0022	1	398	0.0025	1088	c.666 others(1103): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG CCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(1081): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	398	0.0025	1088	c.666 others(1103): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(1081): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGT ATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACTAT GTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGT ATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTAT ATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATAC TACATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCA TATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACA TACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATATA GTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19009.hp2 HG02630.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0224 a0001c0001t0001g0233	2	448	0.0045	1088	c.51+ others(1103): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATACTATATGATATACA TAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATA CTATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGT ATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTAT ATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGT AGTATACATACTATATGATATACATAGTATGTAGTATACATACTATATGA TATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTA TACATACTATATGATATACATAGTATGTAGTATACATACTATATGATATA CATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(1081): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATG TACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTA TACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACA TCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACT ACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCAT ATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACAT GCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	448	0.0022	1088	c.51+ others(1103): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACAT ACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG CATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTA TATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATG TAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATG ATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGT ATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGT ACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATAC ATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(1081): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGG ACAGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGAGGAGGAC AGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGATGG AAGGAGGGAGAGAGGGAGGGGAGGATGGAAGGACGGAGGGAGGGAGGGAC GGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGG AGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGAC AGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAG AGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAG GGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGG AGGGAGGGAGGGGAGGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAA GGAGGGAGGGATGGAGGGAGGGATGGAAGGATGGAGGGAGGAAAGAATGG AGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAG GGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGG AGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAG GGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGG AGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAG GGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGA GTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGT GGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGA ATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGACT GGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAATGG AGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0077 a0001c0025t0003g0077	1	126	0.0079	1088	c.415 others(1109): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCC TCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATT CTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATCCTTCCATCCCTCCC TCCATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCGTC CTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCT CCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCC CCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCC TCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTC CCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCT TCCATCCTCCCCTCCGTCCCTCCCTCCCTCCGTCCTTCCATCCTCCCCTC CCTCTCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCTTCCATCCTCCCC TCCCTCCCTCCCTCTGTCCTCCTCTCCCTCCCTCCTTCCATCCTCCCCTC CCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCC TCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DPEP1_chr16_89608642_89643433	89619063	C C	CCCCCCCG others(1081): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC ATGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCC TCCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCTCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	250	0.0040	1088	c.-10 others(1107): Show c.-107+5350_-107+5351insGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCC CTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ETHE1_chr19_43501719_43532201	43517389	C C	CAGCACTT others(1081): Show CAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAG ACCAGTCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATATAAAAA TTAGCTGGGTGTTATGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAAGAGAATCGCGTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAA CATCGCACCACTGTACTACAGCCTGGGCAACACAGTGAGGCTCCATCTTG GAAAAAAACATATATATGTATAAAATGCATTTTTTTAAAGACAGGGCCTC ACACTGTACCCAGGCTGGAGTACAGTGGCGCAATCATATCTCACTGCTGC CTGAACTCCCAGGCTCAAGCGATCCTCCCACACCAGCCTTTCCAGTAGCC GGGACTATAGGCGCACCAGCATGCCTGGCTAATTTGTTTTTAATTTTTTG TAGAGACAGGGTCTTGCAGTGTTGCCCAGGCTGGTCTCAAATACCTGGGC TCAAACTATCCTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCAT GAACCACTGTGCCCAGCCTATTACTATTATTTATTTATTTTTTTTTTTGA GACGGAATCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGAACTCG GCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGGCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACACCCAGCTAATTT TTTTTGTATTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGG TCTCCATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCT GGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTATTATTATTAACTAAT ACAAAAATATCTACAATCTACTTCAGTTCATAGGAAAGAAAAGTTTTAAT AAGACAAATTAAATGACACACCATGAGGAAACAGTCGAACACGTCTAGAA TGTGGAATATTTTAGAAGACAGCATGTCAGGAAGCTTCAAAAGTCAATAC CCTGGAGGGCCAAGCACAGTGGCTGATGCCTGTAATCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	408	0.0025	1088	c.376 others(1105): Show c.376-5824_376-5823insAGGATTACAGGCATCAGCCACTGTGCTT GGCCCTCCAGGGTATTGACTTTTGAAGCTTCCTGACATGCTGTCTTCTAA AATATTCCACATTCTAGACGTGTTCGACTGTTTCCTCATGGTGTGTCATT TAATTTGTCTTATTAAAACTTTTCTTTCCTATGAACTGAAGTAGATTGTA GATATTTTTGTATTAGTTAATAATAATAAGGCCAGGCGCGGTGGCTCACG CCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCA GGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAA AAATACAAAAAAAATTAGCTGGGTGTGATGGTGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGC TTGCAGTGAGCCGAGTTCATGCCACTGCACTCCAACCTGGGTGACAGAGC GAGATTCCGTCTCAAAAAAAAAAATAAATAAATAATAGTAATAGGCTGGG CACAGTGGTTCATGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGTGGGA GGATAGTTTGAGCCCAGGTATTTGAGACCAGCCTGGGCAACACTGCAAGA CCCTGTCTCTACAAAAAATTAAAAACAAATTAGCCAGGCATGCTGGTGCG CCTATAGTCCCGGCTACTGGAAAGGCTGGTGTGGGAGGATCGCTTGAGCC TGGGAGTTCAGGCAGCAGTGAGATATGATTGCGCCACTGTACTCCAGCCT GGGTACAGTGTGAGGCCCTGTCTTTAAAAAAATGCATTTTATACATATAT ATGTTTTTTTCCAAGATGGAGCCTCACTGTGTTGCCCAGGCTGTAGTACA GTGGTGCGATGTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCACGCGAT TCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCATAA CACCCAGCTAATTTTTATATTTTTAGTAGAGACGGTGTTTCACTATGTTG GCCAGACTGGTCTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTC CCAAAGTGCT	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	3/6			chr19	TogoVar
ETHE1_chr19_43501719_43532201	43517389	C C	CAGCACTT others(1081): Show CAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAG ACCAGTCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATATAAAAA TTAGCTGGGTGTTATGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAAGAGAATCGCGTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAA CATCGCACCACTGTACTACAGCCTGGGCAACACAGTGAGGCTCCATCTTG GAAAAAAACATATATATGTATAAAATGCATTTTTTTAAAGACAGGGCCTC ACACTGTACCCAGGCTGGAGTACAGTGGCGCAATCATATCTCACTGCTGC CTGAACTCCCAGGCTCAAGCGATCCTCCCACACCAGCCTTTCCAGTAGCC GGGACTATAGGCGCACCAGCATGCCTGGCTAATTTGTTTTTAATTTTTTG TAGAGACAGGGTCTTGCAGTGTTGCCCAGGCTGGTCTCAAATACCTGGGC TCAAACTATCCTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCAT GAACCACTGTGCCCAGCCTATTACTATTATTTATTTTTTTTTTTTTTTGA GACGGAATCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGAACTCG GCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGGCTCAGC CTCCCGAGTAGCTGGAACTACAGGCGCCCACCATCACACCCAGCTAATTT TTTTTGTATTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGG TCTCCATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCT GGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTATTATTATTAACTAAT ACAAAAATATCTACAATCTACTTCAGTTCATAGGAAAGAAAAGTTTTAAT AAGACAAATTAAATGACACACCATGAGGAAACAGTCGAACACGTCTAGAA TGTGGAATATTTTAGAAGACAGCATGTCAGGAAGCTTCAAAAGTCAATAC CCTGGAGGGCCAAGCACAGTGGCTGATGCCTGTAATCCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	408	0.0025	1088	c.376 others(1105): Show c.376-5824_376-5823insAGGATTACAGGCATCAGCCACTGTGCTT GGCCCTCCAGGGTATTGACTTTTGAAGCTTCCTGACATGCTGTCTTCTAA AATATTCCACATTCTAGACGTGTTCGACTGTTTCCTCATGGTGTGTCATT TAATTTGTCTTATTAAAACTTTTCTTTCCTATGAACTGAAGTAGATTGTA GATATTTTTGTATTAGTTAATAATAATAAGGCCAGGCGCGGTGGCTCACG CCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCA GGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAA AAATACAAAAAAAATTAGCTGGGTGTGATGGTGGGCGCCTGTAGTTCCAG CTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGC TTGCAGTGAGCCGAGTTCATGCCACTGCACTCCAACCTGGGTGACAGAGC GAGATTCCGTCTCAAAAAAAAAAAAAAATAAATAATAGTAATAGGCTGGG CACAGTGGTTCATGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGTGGGA GGATAGTTTGAGCCCAGGTATTTGAGACCAGCCTGGGCAACACTGCAAGA CCCTGTCTCTACAAAAAATTAAAAACAAATTAGCCAGGCATGCTGGTGCG CCTATAGTCCCGGCTACTGGAAAGGCTGGTGTGGGAGGATCGCTTGAGCC TGGGAGTTCAGGCAGCAGTGAGATATGATTGCGCCACTGTACTCCAGCCT GGGTACAGTGTGAGGCCCTGTCTTTAAAAAAATGCATTTTATACATATAT ATGTTTTTTTCCAAGATGGAGCCTCACTGTGTTGCCCAGGCTGTAGTACA GTGGTGCGATGTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCACGCGAT TCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCATAA CACCCAGCTAATTTTTATATTTTTAGTAGAGACGGTGTTTCACTATGTTG GCCAGACTGGTCTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTC CCAAAGTGCT	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	3/6			chr19	TogoVar
ETHE1_chr19_43501719_43532201	43517389	C C	CAGCACTT others(1081): Show CAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAG ACCAGTCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATATAAAAA TTAGCTGGGTGTTATGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAAGAGAATCGCGTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAA CATCGCACCACTGTACTACAGCCTGGGCAACACAGTGAGGCTCCATCTTG GAAAAAAACATATATATGTATAAAATGCATTTTTTTAAAGACAGGGCCTC ACACTGTACCCAGGCTGGAGTACAGTGGCGCAATCATATCTCACTGCTGC CTGAACTCCCAGGCTCAAGCGATCCTCCCACACCAGCCTTTCCAGTAGCC GGGACTATAGGCGCACCAGCATGCCTGGCTAATTTGTTTTTAATTTTTTG TAGAGACAGGGTCTTGCAGTGTTGCCCAGGCTGGTCTCAAATACCTGGGC TCAAACTATCCTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCAT GAACCACTGTGCCCAGCCTATTACTATTATTTATTTTTTTTTTTTTTTGA GACGGAATCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGAACTCG GCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGGCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACACCCAGCTAATTT TTTTTGTATTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGG TCTCCATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCT GGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTATTATTATTAACTAAT ACAAAAATATCTACAATCTACTTCAGTTCATAGGAAAGAAAAGTTTTAAT AAGACAAATTAAATGACACACCATGAGGAAACAGTCGAACACGTCTAGAA TGTGGAATATTTTAGAAGACAGCATGTCAGGAAGCTTCAAAAGTCAATAC CCTGGAGGGCCAAGCACAGTGGCTGATGCCTGTAATCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00609.hp1 others(56): Show HG00140.hp2 HG00323.hp2 HG00609.hp1 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02257.hp1 HG02559.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp1 HG06807.hp1 NA18945.hp2 NA18947.hp1 NA18956.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18975.hp2 NA18983.hp2 NA18994.hp1 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19082.hp1 NA19088.hp2 NA19089.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0141 a0001c0002t0001g0011 a0001c0002t0001g0013 others(47): Show a0001c0001t0001g0141 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084	59	408	0.1446	1088	c.376 others(1105): Show c.376-5824_376-5823insAGGATTACAGGCATCAGCCACTGTGCTT GGCCCTCCAGGGTATTGACTTTTGAAGCTTCCTGACATGCTGTCTTCTAA AATATTCCACATTCTAGACGTGTTCGACTGTTTCCTCATGGTGTGTCATT TAATTTGTCTTATTAAAACTTTTCTTTCCTATGAACTGAAGTAGATTGTA GATATTTTTGTATTAGTTAATAATAATAAGGCCAGGCGCGGTGGCTCACG CCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCA GGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAA AAATACAAAAAAAATTAGCTGGGTGTGATGGTGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGC TTGCAGTGAGCCGAGTTCATGCCACTGCACTCCAACCTGGGTGACAGAGC GAGATTCCGTCTCAAAAAAAAAAAAAAATAAATAATAGTAATAGGCTGGG CACAGTGGTTCATGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGTGGGA GGATAGTTTGAGCCCAGGTATTTGAGACCAGCCTGGGCAACACTGCAAGA CCCTGTCTCTACAAAAAATTAAAAACAAATTAGCCAGGCATGCTGGTGCG CCTATAGTCCCGGCTACTGGAAAGGCTGGTGTGGGAGGATCGCTTGAGCC TGGGAGTTCAGGCAGCAGTGAGATATGATTGCGCCACTGTACTCCAGCCT GGGTACAGTGTGAGGCCCTGTCTTTAAAAAAATGCATTTTATACATATAT ATGTTTTTTTCCAAGATGGAGCCTCACTGTGTTGCCCAGGCTGTAGTACA GTGGTGCGATGTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCACGCGAT TCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCATAA CACCCAGCTAATTTTTATATTTTTAGTAGAGACGGTGTTTCACTATGTTG GCCAGACTGGTCTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTC CCAAAGTGCT	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	3/6			chr19	TogoVar
ETHE1_chr19_43501719_43532201	43517389	C C	CAGCACTT others(1081): Show CAGCACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAG ACCAGTCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATATAAAAA TTAGCTGGGTGTTATGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAAGAGAATCGCGTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAA CATCGCACCACTGTACTACAGCCTGGGCAACACAGTGAGGCTCCATCTTG GAAAAAAACATATATATGTATAAAATGCATTTTTTTAAAGACAGGGCCTC ACACTGTACCCAGGCTGGAGTACAGTGGCGCAATCATATCTCACTGCTGC CTGAACTCCCAGGCTCAAGCGATCCTCCCACACCAGCCTTTCCAGTAGCC GGGACTATAGGCGCACCAGCATGCCTGGCTAATTTGTTTTTAATTTTTTG TAGAGACAGGGTCTTGCAGTGTTGCCCAGGCTGGTCTCAAATACCTGGGC TCAAACTATCCTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCAT GAACCACTGTGCCCAGCCTATTACTATTATTTATTTTTTTTTTTTTTTGA GACGGAATCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGAACTCG GCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGGCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACACCCAGCTAATTT TTTTTGTATTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGG TCTCCATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCT GGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTATTATTATTAACTAAT ACAAAAATATCTACAATCTACTTCAGTTCATAGGAAAGAAAAGTTTTAAT AAGACAAATTAAATGACACACCATGAGGAAACAGTCGAACACGTCTAGAA TGTGGAATATTTTAGAAGACAGCATGTCAGGAAGCTTCAAAAGTCAATAC CCTGGAGGGCCAAGCACAGTGGCTGATGCCTGTAATCCT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	408	0.0025	1088	c.376 others(1105): Show c.376-5824_376-5823insAGGATTACAGGCATCAGCCACTGTGCTT GGCCCTCCAGGGTATTGACTTTTGAAGCTTCCTGACATGCTGTCTTCTAA AATATTCCACATTCTAGACGTGTTCGACTGTTTCCTCATGGTGTGTCATT TAATTTGTCTTATTAAAACTTTTCTTTCCTATGAACTGAAGTAGATTGTA GATATTTTTGTATTAGTTAATAATAATAAGGCCAGGCGCGGTGGCTCACG CCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCA GGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAA AAATACAAAAAAAATTAGCTGGGTGTGATGGTGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGC TTGCAGTGAGCCGAGTTCATGCCACTGCACTCCAACCTGGGTGACAGAGC GAGATTCCGTCTCAAAAAAAAAAAAAAATAAATAATAGTAATAGGCTGGG CACAGTGGTTCATGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGTGGGA GGATAGTTTGAGCCCAGGTATTTGAGACCAGCCTGGGCAACACTGCAAGA CCCTGTCTCTACAAAAAATTAAAAACAAATTAGCCAGGCATGCTGGTGCG CCTATAGTCCCGGCTACTGGAAAGGCTGGTGTGGGAGGATCGCTTGAGCC TGGGAGTTCAGGCAGCAGTGAGATATGATTGCGCCACTGTACTCCAGCCT GGGTACAGTGTGAGGCCCTGTCTTTAAAAAAATGCATTTTATACATATAT ATGTTTTTTTCCAAGATGGAGCCTCACTGTGTTGCCCAGGCTGTAGTACA GTGGTGCGATGTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCACGCGAT TCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCATAA CACCCAGCTAATTTTTATATTTTTAGTAGAGACGGTGTTTCACTATGTTG GCCAGACTGGTCTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTC CCAAAGTGCT	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	3/6			chr19	TogoVar
ETHE1_chr19_43501719_43532201	43517389	C C	CAGGACTT others(1081): Show CAGGACTTTGGGAGGCTGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAG ACCAGTCTGGCCAACATAGTGAAACACCGTCTCTACTAAAAATATAAAAA TTAGCTGGGTGTTATGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAAGAGAATCGCGTGAACCCGGGAGGCAGAAGTTGCAGTGAGCCAA CATCGCACCACTGTACTACAGCCTGGGCAACACAGTGAGGCTCCATCTTG GAAAAAAACATATATATGTATAAAATGCATTTTTTTAAAGACAGGGCCTC ACACTGTACCCAGGCTGGAGTACAGTGGCGCAATCATATCTCACTGCTGC CTGAACTCCCAGGCTCAAGCGATCCTCCCACACCAGCCTTTCCAGTAGCC GGGACTATAGGCGCACCAGCATGCCTGGCTAATTTGTTTTTAATTTTTTG TAGAGACAGGGTCTTGCAGTGTTGCCCAGGCTGGTCTCAAATACCTGGGC TCAAACTATCCTCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCAT GAACCACTGTGCCCAGCCTATTACTATTATTTATTTTTTTTTTTTTTTGA GACGGAATCTCGCTCTGTCACCCAGGTTGGAGTGCAGTGGCATGAACTCG GCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGGCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCACCATCACACCCAGCTAATTT TTTTTGTATTTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGG TCTCCATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCT GGGATTATAGGCGTGAGCCACCGCGCCTGGCCTTATTATTATTAACTAAT ACAAAAATATCTACAATCTACTTCAGTTCATAGGAAAGAAAAGTTTTAAT AAGACAAATTAAATGACACACCATGAGGAAACAGTCGAACACGTCTAGAA TGTGGAATATTTTAGAAGACAGCATGTCAGGAAGCTTCAAAAGTCAATAC CCTGGAGGGCCAAGCACAGTGGCTGATGCCTGTAATCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	408	0.0025	1088	c.376 others(1105): Show c.376-5824_376-5823insAGGATTACAGGCATCAGCCACTGTGCTT GGCCCTCCAGGGTATTGACTTTTGAAGCTTCCTGACATGCTGTCTTCTAA AATATTCCACATTCTAGACGTGTTCGACTGTTTCCTCATGGTGTGTCATT TAATTTGTCTTATTAAAACTTTTCTTTCCTATGAACTGAAGTAGATTGTA GATATTTTTGTATTAGTTAATAATAATAAGGCCAGGCGCGGTGGCTCACG CCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCATGAGGTCA GGAGATGGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTGAA AAATACAAAAAAAATTAGCTGGGTGTGATGGTGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGTGGAGC TTGCAGTGAGCCGAGTTCATGCCACTGCACTCCAACCTGGGTGACAGAGC GAGATTCCGTCTCAAAAAAAAAAAAAAATAAATAATAGTAATAGGCTGGG CACAGTGGTTCATGCCTGTAATCCCAGGACTTTGGGAGGCTGAGGTGGGA GGATAGTTTGAGCCCAGGTATTTGAGACCAGCCTGGGCAACACTGCAAGA CCCTGTCTCTACAAAAAATTAAAAACAAATTAGCCAGGCATGCTGGTGCG CCTATAGTCCCGGCTACTGGAAAGGCTGGTGTGGGAGGATCGCTTGAGCC TGGGAGTTCAGGCAGCAGTGAGATATGATTGCGCCACTGTACTCCAGCCT GGGTACAGTGTGAGGCCCTGTCTTTAAAAAAATGCATTTTATACATATAT ATGTTTTTTTCCAAGATGGAGCCTCACTGTGTTGCCCAGGCTGTAGTACA GTGGTGCGATGTTGGCTCACTGCAACTTCTGCCTCCCGGGTTCACGCGAT TCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCACACCATAA CACCCAGCTAATTTTTATATTTTTAGTAGAGACGGTGTTTCACTATGTTG GCCAGACTGGTCTCGAACTCCTGACCTTGTGATCCGCCTGCCTCAGCCTC CCAAAGTCCT	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	3/6			chr19	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1081): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATATAA TATATAATATATAATATATAATATAATATATAATATATAATATATAATAT AATATATAATGTAATATATAATATATAATATAATATATAATATATAATAT ATAATATAATATATAATATATAATATATAATATATAATATAATATATAAT ATACAATACATAATATATAATGTATAATATAATATATAATATAATATAAA ATATATAATATATAATATATAATATTATATATTTTATATATGCATTTCTT CTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGG TAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTA CTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCA CATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAG TTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACAC TCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGT TTTCTACTTCCTTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAA ATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTC ATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTT GCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGT GGCTGACCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGG GTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATA TTATTTTATATGTGATATATATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 NA18942.hp2 NA18980.hp1 others(1): Show HG03710.hp1 NA18942.hp2 NA18980.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0029 a0001c0001t0014 a0001c0002t0029	a0001c0001t0014g0050 a0001c0001t0014g0051 a0001c0001t0014g0053 others(1): Show a0001c0001t0014g0050 a0001c0001t0014g0051 a0001c0001t0014g0053 a0001c0002t0029g0052	4	366	0.0109	1088	c.-36 others(1099): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATATAATATAATATATAATATAATATATAATATA ATATATAATATATAATATATAATATATAATATATAATATAATATATAATA TATAATATATAATATAATATATAATGTAATATATAATATATAATATAATA TATAATATATAATATATAATATAATATATAATATATAATATATAATATAT AATATAATATATAATATACAATACATAATATATAATGTATAATATAATAT ATAATATAATATAAAATATATAATATATAATATATAATATTATATATTTT ATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACT GGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTT CATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAG CTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCA GTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATG CTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATA CTAATCTGGAATGGTTTTCTACTTCCTTCTGTCAATGCATGTCCTCTGAC CTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTT CACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCA ACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCAT CCAGTGGCCCTGGGTGGCTGACCATCATGGAATCCATTGCACCCTTGTCC TCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGA TATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTAT ACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1081): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATATAATATAATATATAATATAATATATAATATAATATATAATATATAA TATATAATATATAATATATAATATAATATATAATATATAATATATAATAT AATATATAATGTAATATATAATATATAATATAATATATAATATATAATAT ATAATATAATATATAATATATAATATATAATATATAATATAATATATAAT ATACAATACATAATATATAATGTATAATATAATATATAATATAATATAAA ATATATAATATATAATATATAATATTATATATTTTATATATGCATTTCTT CTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGG TAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTA CTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCA CATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAG TTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACAC TCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGT TTTCTACTTCCTTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAA ATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTC ATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTT GCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGT GGCTGACCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGG GTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATATA TTATTTTATATGTGATATATATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 NA18942.hp2 NA18980.hp1 others(2): Show HG03710.hp1 NA18942.hp2 NA18980.hp1 NA19011.hp2 NA19080.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0030 a0005c0006t0001g0048 a0005c0006t0001g0123 others(1): Show a0005c0006t0001g0030 a0005c0006t0001g0048 a0005c0006t0001g0123 a0005c0006t0001g0124	5	348	0.0144	1088	c.87 others(1097): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATAAATAATATAAT ATATAATATATAATATATAATATAATATATAATATAATATATAATATAAT ATATAATATATAATATATAATATATAATATATAATATAATATATAATATA TAATATATAATATAATATATAATGTAATATATAATATATAATATAATATA TAATATATAATATATAATATAATATATAATATATAATATATAATATATAA TATAATATATAATATACAATACATAATATATAATGTATAATATAATATAT AATATAATATAAAATATATAATATATAATATATAATATTATATATTTTAT ATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGG CCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCA TATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCT CAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGT CCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCT AGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACT AATCTGGAATGGTTTTCTACTTCCTTCTGTCAATGCATGTCCTCTGACCT TTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCTTCA CTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCAAC TTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCC AGTGGCCCTGGGTGGCTGACCATCATGGAATCCATTGCACCCTTGTCCTC TGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATGATA TATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTATAC AA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
IQSEC3_chr12_61767_183455	163272	C C	CCCTCCCT others(1081): Show CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCT CCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAA CCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTC CTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCC CTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0187 a0001c0003t0002g0187	1	282	0.0036	1088	c.258 others(1105): Show c.2584-202_2584-201insGCCCTCCCCTCCCCTCCCTCCACAGAAC CGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCC TCCCTCCACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCC TCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCA CAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCC CTCCCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCT CCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCG GACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTC CCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGC CCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTC CACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTC CCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCT CCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCC TCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGA GCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCC TCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCC TCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCCCTCCA CAGAACCGGA	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(1081): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCACCCCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCCC CACAGCCACCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC ACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCAC AGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACC CCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	312	0.0032	1088	c.-41 others(1103): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCACCCCCCACAGCCACCCCCACAGCCACCCCCCCACAGCCACCCC CCACAGCCACCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCGCCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCA CAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCC CCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGC CACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAG CCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LORICRIN_chr1_153254687_153267124	153256767	A A	ATAGTCAC others(1081): Show ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTAT ATAAAACTATATATAGTCACATATGTATATAAAACTATAGTCACATATGT ATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAC ATACAGTCATATATGTATATAAAACTACATACAGTCATATATGTATATAA AACTACATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATAT ACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATATAGTCATAT ATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTAT ATATGTATATAAAACTATAGTTATATATGTATATAAAACTAGTTATATAT GTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGT ATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAA AACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAA CTATATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAACTATATACAGTTATGTATGTATGTAAAACTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	422	0.0024	1088	c.-29 others(1099): Show c.-2990_-2989insTAGTCACATATGTATATAAAACTATATATAGTCA CATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATA TAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAAC TATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAAC TATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATA TGTATATAAAACTACATACAGTCATATATGTATATAAAACTACATACAGT CATATATGTATATAAAACTACATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAAC TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATATACAGTCATATATGTATATAAAACTATATAGTCATATATG TATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAC TATATATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATA AAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATA AAACTAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAAC TATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTA TAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTA TATATGTATGTAAAACTATATAGTTATATATGTATGTAAAACTATATACA GTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTA TATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2919		chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364365	G G	GCTTACAC others(1081): Show GCTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCACTT ACATCCACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCCACCCAC ACTTACACCCACGCTTACATCTACCTCCACACCCGCACTTACATCCACCC ACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTTAC ATCTACCTCCACACTCGCACTTACACCCACGCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACCCACACTTACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0102 a0001c0011t0001g0102	1	290	0.0035	1088	c.129 others(1107): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC GCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC GCGCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC GCCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCGCACTTACATCCACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCC ACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC GCCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCAC TTACATCCACCCACACTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTAC ACCCACACTTACATCTACCTCCACACTCGCACTTACACCCACGCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACCCACAC TTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTTACACCCAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364375	A A	ACGCTTAC others(1081): Show ACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACACCCACGCTTACACCCACCCTTACATCT ACCTCCACACCCGCACTTACACCCACCCTTACATCTACCTCCACACCCGC ACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCGCACTTACACCCACCCTTACATCTACCTCCACACCCGCACTCACACCC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACGCTTACATCTACCT CCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACGCTTAC ATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCCGCGC TTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCAC ACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	290	0.0035	1088	c.129 others(1107): Show c.1290-1048_1290-1047insGCTTACATCTACCTCCACACCCACAC TTACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCAC GCTTACACCCACCCTTACATCTACCTCCACACCCGCACTTACACCCACCC TTACATCTACCTCCACACCCGCACTCACACCCACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCGCACTTACACCCACCCTTACATCTAC CTCCACACCCGCACTCACACCCACCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACAT CTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACGCTTACATCTACCTCCACACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACGCTT ACATCTACCTCCACACCCGCGCTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCT ACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACGC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(1081): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCACACCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGC CTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAG TGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCAC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCC GCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCC GCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC GTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0023 a0004c0004t0002g0023	1	292	0.0034	1088	c.218 others(1103): Show c.2189-97_2189-96insAGGCGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGG GGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAG GAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGA GGAGGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGG CACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGGCACACT CGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MEI1_chr22_41694503_41804454	41712204	C C	CAAAAAAA others(1081): Show CAAAAAAAAAAAAAAAAAAAAAAAAAGCATTGTGTTTTTTTTGTTTGTTT GTTTGTTTTTTTGATACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGCCATTG CGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGATTTCACCGTGTTA GCCAGGATGGTCTCGATTTCTTGACCTCATGATCCGTTCTGACCCCCCGG GGGATTTTCCTTCATCATTTTCCTTCTAGGCCACCCTTGAGTGGGGCTAC AATCCTGCAGCCATCCACTTCTGGTTGGTATCAGCATGGCTTGCAGAACC ATCAGACCTCAGGAACTTCACCTAGGTGGAAAGCACTAGAGGAAGACTAA GGGTGAGGGGTGAAGGACTTGCTCCTTCCTCATGGTTCCTGTTTGCTTTC TTCCTGCTTCTTGTTTCTGTGCGTGTTCGCCTAGAATGCTTCTTGAACCT CCAGTGACAGAACCTTCCCACAGCAGCTGCTGAATTTAGTTTGCAGCTTT TCCAACCTTACCGAATCTCTCCTCAAAGCCACCAGCAGAAGTACCACAAA TGATTGTAGAGAAGGGTGGGTTTGGAGCTAAGAGATAATGTTGTAATAAT TGGCTATAGGAACTTGCCTATAATTCTTTTTTTTTAGTATATATAAAGGA GCAAACTGAGGAAAGAAATAGTAGAGATAATATAAAATAGCAGTTTTTGG CCAGGCACAGTGGCTCACACCTATAGTCCCTGGGAGGCCAAGGCGGGCGG ATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGTAGAAGCC CCATCTCTACTAAAAGTATAAAAAATTAGCCAGGCGTGGGGGGCGGGTGC CTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCC AGGAGGCAGAAGTTGCAGTGAGGCGAGATCATGCCAGTGCACTCCAGCCT GGGCAACAAGAGTAAAACTCCGGCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	260	0.0039	1088	c.350 others(1105): Show c.350-1786_350-1785insAAAAAAAAAAAAAGCATTGTGTTTTTTT TGTTTGTTTGTTTGTTTTTTTGATACGGAGTCTCGCTCTGTTGCCCAGGC TGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGC CCGCCATTGCGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGATTTC ACCGTGTTAGCCAGGATGGTCTCGATTTCTTGACCTCATGATCCGTTCTG ACCCCCCGGGGGATTTTCCTTCATCATTTTCCTTCTAGGCCACCCTTGAG TGGGGCTACAATCCTGCAGCCATCCACTTCTGGTTGGTATCAGCATGGCT TGCAGAACCATCAGACCTCAGGAACTTCACCTAGGTGGAAAGCACTAGAG GAAGACTAAGGGTGAGGGGTGAAGGACTTGCTCCTTCCTCATGGTTCCTG TTTGCTTTCTTCCTGCTTCTTGTTTCTGTGCGTGTTCGCCTAGAATGCTT CTTGAACCTCCAGTGACAGAACCTTCCCACAGCAGCTGCTGAATTTAGTT TGCAGCTTTTCCAACCTTACCGAATCTCTCCTCAAAGCCACCAGCAGAAG TACCACAAATGATTGTAGAGAAGGGTGGGTTTGGAGCTAAGAGATAATGT TGTAATAATTGGCTATAGGAACTTGCCTATAATTCTTTTTTTTTAGTATA TATAAAGGAGCAAACTGAGGAAAGAAATAGTAGAGATAATATAAAATAGC AGTTTTTGGCCAGGCACAGTGGCTCACACCTATAGTCCCTGGGAGGCCAA GGCGGGCGGATCACCTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACAT GTAGAAGCCCCATCTCTACTAAAAGTATAAAAAATTAGCCAGGCGTGGGG GGCGGGTGCCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCA CTTGAACCCAGGAGGCAGAAGTTGCAGTGAGGCGAGATCATGCCAGTGCA CTCCAGCCTGGGCAACAAGAGTAAAACTCCGGCTCAAAAAAAAAAAAAAA AAAAAAAAAA	MEI1	ENSG00000167077.13	transcript	ENST00000401548.8	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(1081): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAT TATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0223 a0002c0002t0006g0224 a0002c0002t0006g0223 a0002c0002t0006g0224	2	288	0.0069	1088	c.483 others(1103): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAT TATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
PAK2_chr3_196734857_196837647	196811357	C C	CCCTTCCT others(1081): Show CCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCCTTCCTCCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTCCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCT TTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCT TCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCT CCCTCCCTTCCTTCCCTCCCTTGCTTCCCTTCCTTCCCTTCCCTCCCTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCC TTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCT CCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTTCCCTTCCT TCCCTTCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTC CCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0112 a0001c0001t0064g0112	1	178	0.0056	1088	c.773 others(1103): Show c.773+710_773+711insTTCCCTTCCTTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTC CCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCCTCCCTTCCTCCCCTTCCCTCCCTCCCTTCCTTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCT TCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTCCCCTTCCCTCCCTCCCTTCC TTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCTCCCTT CCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCCTCCCTTCCTTCCCTCCCTTGCTTCCCTTCCTTCC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCCTTCCTTCCCT CCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTTCCTTCCCTTCCTTC CTTCCCTTCCTTCCCTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCTTCCC TTCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASA3_chr13_113972783_114137623	114099909	A A	ACAGCAGC others(1081): Show ACAGCAGCCCCCCCACAGCCCCCCACAGCAGCTCCCCCACAGCCCCCCAC AGCCCCCCACAGCCCCCCCACAGCAGCTCCCCCACAGCCCCCCACAGCAG CCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCTCC CCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCCA CAGCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCAGCT CCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCC CACAGCCCCCCACAGCAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGC AGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCC CCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCACA GCCCCCCCACAGCCCCCCCACAGCAGCTCCCCCACAGCCCCCCACAGCAG CCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCAGCCCC CCACAGCCCCCACAGCCCCCCGTAGCCCCCACCCCACAGCCCCCACAGCA GCCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCC CCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCA CAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCC CCCCCCAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCC CACAGCCCCCACAGCAGCCCCCCCAGCAGCCCCCCCACAGCCCCCCCACA GCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCC CACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCA GCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCAGCAGCCCC CCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCAC AGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	67	0.0149	1088	c.56- others(1105): Show c.56-26073_56-26072insGGGCTGTGGGGGGGCTGCTGTGGGGGCT GTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGG GGGGCTGTGGGGGGGCTGCTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGT GGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCT GCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGGGGGGGCTGCTG TGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGG CTGCTGGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTG TGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGT GGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGC TGTGGGGGGGCTGCTGTGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGT GGGGGCTGTGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGG CTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGAGCTGCTGTGGGGGGGC TGTGGGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGG GGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCT GTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGCTGT GGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGG GGCTGTGGGGGAGCTGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGCT GTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGG GGGGCTGTGGGGGAGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGG CTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGAGCTGCTGTGGGGGGGC TGTGGGGGGCTGTGGGGGGCTGTGGGGGAGCTGCTGTGGGGGGCTGTGGG GGGGCTGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79483438	G G	GCCTCCCT others(1081): Show GCCTCCCTCCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTCCTTGC CTGCCTCCCTCCCTCCCTGCCTGCCTGCATCCCTCCCTCCTTCCCTCCCT GCCTGCCTGCCTACCTGCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTGCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTCCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTGCCTGTCTCCCTCCCTCC CTGCCTGCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCT CCCTGCCTGCCTCCCTCCCTTCCTGCCTGCCTCCCTCCCTGCCTGCCTGC CTCCCTCCCTCCCTCCCCACCTGCCTACCTCCCTCCTTCCCTGCCTCCCT CCTTCCCTGCCTCCCTCCCTCCCTGCCTCCCTGCCTACCTGCCTGCCTCC CTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTCCCTCCCTCCCT CCCTCCCTGCCTGCCTACCTGCCTGCCTCCCTCCCTGCCTCCCTCCCTCC CTGCCTGCCTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCT GCCTGTCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGC CTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTGTCTCCCT CCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTTCCTGC CTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTGCCT CCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTGCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTTCCTGCCT GCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTCCCTGCCTGCCTACCTGCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTCCTCCC CCACCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTGCCTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	154	0.0065	1088	c.-31 others(1105): Show c.-319-841_-319-840insGAGGCAGGCAGGCAGGCAGGGAGGGAGG GAGGGAGGTGGGGGAGGAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGA GGGAGGCAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGTAGGCAGG CAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGA GGGAGGGAGGCAGGCAGGAAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGG CAGGGAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGTGGGGA AGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGG GAGGGAGGCAGGCAGGAAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCA GGGAGGGAGGGAGGGAGACAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAG GAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGGA GGGAGACAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGAGGGAGG CAGGCAGGCAGGGAGGGAGGGAGGCAGGGAGGGAGGCAGGCAGGTAGGCA GGCAGGGAGGGAGGGAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGGAGG GAGGCAGGGAGGGAGGCAGGCAGGTAGGCAGGGAGGCAGGGAGGGAGGGA GGCAGGGAAGGAGGGAGGCAGGGAAGGAGGGAGGTAGGCAGGTGGGGAGG GAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGCAGGCAGGAAGGGAGGGA GGCAGGCAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAGGCAGGGAGG GAGGCAGGCAGGGAGGGAGGGAGACAGGCAGGGAGGGACGGAGGGAGGGA GGGAGGGAGGCAGGGAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGGAGG GAGGCAGGCAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGTA GGCAGGCAGGCAGGGAGGGAAGGAGGGAGGGATGCAGGCAGGCAGGGAGG GAGGGAGGCAGGCAAGGAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGA GGGAGGGAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79483438	G G	GCCTCCCT others(1081): Show GCCTCCCTCCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTCCTTGC CTGCCTCCCTCCCTCCCTGCCTGCCTGCATCCCTCCCTCCTTCCCTCCCT GCCTGCCTGCCTACCTGCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTGCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTCCCTCCTCCCTC CCTGCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTGCCTGTCTCCCTCCC TCCCTGCCTGCCTCCCTCCCTGCCTGCCTCCCTCCCTCCCTGCCTGCCTC CCTCCCTGCCTGCCTCCCTCCCTTCCTGCCTGCCTCCCTCCCTGCCTGCC TGCCTCCCTCCCTCCCTCCCCACCTGCCTACCTCCCTCCTTCCCTGCCTC CCTCCTTCCCTGCCTCCCTCCCTCCCTGCCTCCCTGCCTACCTGCCTGCC TCCCTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTCCCTCCCTC CCTCCCTCCCTGCCTGCCTACCTGCCTGCCTCCCTCCCTGCCTCCCTCCC TCCCTGCCTGCCTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTC CCTGCCTGTCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTGCC TGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTGTCTC CCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTTCC TGCCTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTG CCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTGCCTCCC TCCCTCCCTCCCTGCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTTCCTG CCTGCCTCCCTCCCTCCTTCCCCACCTCCCTCCCTCCCTCCCTGCCTCCC CTCCCTCCCTCCCTGCCTGCCTACCTGCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTGCCTGCCTCCCTCCCTCCTTCC CCACCTCCCTCCCTCCCTCCCTGCCTGCCTGCCTGCCTC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	154	0.0065	1088	c.-31 others(1105): Show c.-319-841_-319-840insGAGGCAGGCAGGCAGGCAGGGAGGGAGG GAGGGAGGTGGGGAAGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGA GGCAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGTAGGCAGGCAGG GAGGGAGGGAGGGGAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGG AGGGAGGCAGGCAGGAAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAG GGAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGG AGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGAG GGAGGCAGGCAGGAAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAGGG AGGGAGGGAGGGAGACAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAG GGAGGGAGGCAGGCAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGG AGACAGGCAGGGAGGGAGGGAGGGAGGTGGGGAAGGAGGGAGGGAGGCAG GCAGGCAGGGAGGGAGGGAGGCAGGGAGGGAGGCAGGCAGGTAGGCAGGC AGGGAGGGAGGGAGGGAGGGAGGCAGGCAGGCAGGGAGGGAGGGAGGGAG GCAGGGAGGGAGGCAGGCAGGTAGGCAGGGAGGCAGGGAGGGAGGGAGGC AGGGAAGGAGGGAGGCAGGGAAGGAGGGAGGTAGGCAGGTGGGGAGGGAG GGAGGGAGGCAGGCAGGCAGGGAGGGAGGCAGGCAGGAAGGGAGGGAGGC AGGCAGGGAGGGAGGCAGGCAGGGAGGGAGGGAGGCAGGCAGGGAGGGAG GCAGGCAGGGAGGGAGGGAGACAGGCAGGGAGGGACGGAGGGAGGGAGGG AGGGAGGCAGGGAGGGAGGAGGGAGGCAGGCAGGCAGGGAGGGAGGGAGG GAGGCAGGCAGGGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGCAGGTA GGCAGGCAGGCAGGGAGGGAAGGAGGGAGGGATGCAGGCAGGCAGGGAGG GAGGGAGGCAGGCAAGGAGGGAGGGAGGGAGGCAGGCAGGGAGGGAGGGA GGGAGGGAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(1081): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATATATTTAT ATTATATAAATATAATATAATTATATAATTATATTATATAAATATAATAT AATTATATAATTATATTATATAAATATAATATAATTATATAATTATATAA TATAATTATATTATATAAATATAATAATATAATATAATTATATAAATATA ATAATATAATATAATTATATAAATATAATAATATAATATAATAATATAAT ATAATATAATTATATTTTTATATAATATAATTATATTATATAATTATATA ATATAATATAATTATATTATGTAATTATATAATATAATATAATTATATTA TATTATATAATTACATAATATAATATAATTATATTATATAATTATATAAT ATAATATAATATAATTATATTATATAATTATATAATAAATATAATATAAT TATATTATATAATTATATTATAAATATAATATAATTATATTATATAATTA TATTATAAATATAATATAATTATATTATATAATTATATTATAAATATAAT ATAATTATATTATATAATTATATAATAAATATAATATAATTATATTATAT AATTATATAATAAATATAATATAATTATATTATATAATTATATAATAAAT ATAATATAATTATATTATATAATTATATAATAAATATAATATAATTATAT TATATAATTATATAATAATATAATATAATTATATTATATAATTATATAAT AATATAATATAATTATATTATATAATTATATAATAAATATAATATAATTA TATTATATAATTATATAATAAATATAATATAATTATATTATATAATATGA TATAATATAATATAATATAATATAATATAATTATATTATATAATTATATA ATATAATATAATATAATTATATTATATGATTATATATAATTACATAATAT AATATAATATAATTATATTATATGATTATATATAATTAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0093 a0001c0001t0021g0093	1	304	0.0033	1088	c.347 others(1103): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATATAATTAT ATAATATATTTATATTATATAAATATAATATAATTATATAATTATATTAT ATAAATATAATATAATTATATAATTATATTATATAAATATAATATAATTA TATAATTATATAATATAATTATATTATATAAATATAATAATATAATATAA TTATATAAATATAATAATATAATATAATTATATAAATATAATAATATAAT ATAATAATATAATATAATATAATTATATTTTTATATAATATAATTATATT ATATAATTATATAATATAATATAATTATATTATGTAATTATATAATATAA TATAATTATATTATATTATATAATTACATAATATAATATAATTATATTAT ATAATTATATAATATAATATAATATAATTATATTATATAATTATATAATA AATATAATATAATTATATTATATAATTATATTATAAATATAATATAATTA TATTATATAATTATATTATAAATATAATATAATTATATTATATAATTATA TTATAAATATAATATAATTATATTATATAATTATATAATAAATATAATAT AATTATATTATATAATTATATAATAAATATAATATAATTATATTATATAA TTATATAATAAATATAATATAATTATATTATATAATTATATAATAAATAT AATATAATTATATTATATAATTATATAATAATATAATATAATTATATTAT ATAATTATATAATAATATAATATAATTATATTATATAATTATATAATAAA TATAATATAATTATATTATATAATTATATAATAAATATAATATAATTATA TTATATAATATGATATAATATAATATAATATAATATAATATAATTATATT ATATAATTATATAATATAATATAATATAATTATATTATATGATTATATAT AATTACATAATATAATATAATATAATTATATTATATGATTATATATAATT ACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(1081): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATTATATAATATATTTATATTAT ATAAATATAATATAATTATATAATATATTTATATTATATAAATATAATAT AATTATATAATATAATTATATTATATAAATATAATATAATTATATAATAT AATTATATTATATAAATATAATATAATTATATAATTATATAATATAATTA TATTATATAAATATAATATAATTATATAATTATATAATATAATTATATTA TATAAATATAATAATATAATATAATTATATAAATATAATAATATAATATA ATTATATAAATATAATAATATAATATAATAATATAATATAATATAATTAT ATTTTTATATAATATAATTATATTATATAATTATATAATATAATTATATT ATATTATGTAATTATATAATATAATATAATTATATTATATTATATAATTA CATAATATAATATAATTATATTATATAATTACATAATATAATATAATTAT ATTATATAATTATATAATATAATATAATATAATTATATTATATAATTATA TAATAAATATAATATAATTATATTATATAATTATATTATAAATATAATAT AATTATATTATATAATTATATAATAAATATAATATAATTATATTATATAA TTATATAATAAATATAATATAATTATATTATATAATTATATAATAAATAT AATATAATTATATTATATAATTATATAATAAATATAATATAATTATATTA TATAATTATATAATAATATAATATAATTATATTATATAATTATATAATAA TATAATATAATTATATTATATAATTATATAATAATATAATATAATTATAT TATATAATTATATAATAATATAATATAATTATATTATATAATATGATATA ATATAATATAATATAATATAATATAATTATATTATATAATTATATAATAT AATATAATATAATTATATTATATGATTATATATAATTAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	304	0.0033	1088	c.347 others(1103): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATTATATAAT ATATTTATATTATATAAATATAATATAATTATATAATATATTTATATTAT ATAAATATAATATAATTATATAATATAATTATATTATATAAATATAATAT AATTATATAATATAATTATATTATATAAATATAATATAATTATATAATTA TATAATATAATTATATTATATAAATATAATATAATTATATAATTATATAA TATAATTATATTATATAAATATAATAATATAATATAATTATATAAATATA ATAATATAATATAATTATATAAATATAATAATATAATATAATAATATAAT ATAATATAATTATATTTTTATATAATATAATTATATTATATAATTATATA ATATAATTATATTATATTATGTAATTATATAATATAATATAATTATATTA TATTATATAATTACATAATATAATATAATTATATTATATAATTACATAAT ATAATATAATTATATTATATAATTATATAATATAATATAATATAATTATA TTATATAATTATATAATAAATATAATATAATTATATTATATAATTATATT ATAAATATAATATAATTATATTATATAATTATATAATAAATATAATATAA TTATATTATATAATTATATAATAAATATAATATAATTATATTATATAATT ATATAATAAATATAATATAATTATATTATATAATTATATAATAAATATAA TATAATTATATTATATAATTATATAATAATATAATATAATTATATTATAT AATTATATAATAATATAATATAATTATATTATATAATTATATAATAATAT AATATAATTATATTATATAATTATATAATAATATAATATAATTATATTAT ATAATATGATATAATATAATATAATATAATATAATATAATTATATTATAT AATTATATAATATAATATAATATAATTATATTATATGATTATATATAATT ACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RIMBP2_chr12_130391133_130721299	130393221	T T	TGTGTCTG others(1081): Show TGTGTCTGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCA CCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATG ACCCGGTCACCGTCATCACGTGTGTCTGTCAGTTACCTGGTGAATATTGA ATGTTGTGATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACCTGGT GAATATTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTGTCCGTC AGTTACCTGGTGAATATTGAATGTTGTGATGACCTGGTCACCGTCATCAC GTGTGTCCATCAGTTACCTGGTGAATATTGAACGTTGTGATGACCCGGTC ACCGTCATCACGTGTGTCTGTCAGTTACCTGGTGAATATTGAATGTTGTG ATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACCTGGTGAATATTG AATGTTGTGATGACCCGGTCACCGTCATCACGTGTGTCCGTCAGTTACCT GGTGAATATTGAATGTTGTGATGACCTGGTCACCGTCATCACGTGTGTCC ATCAGTTACCTGGTGAATATTGAGTGTTGTGATGACCTGGTCACCGTCAT CACGTGTGTCCATCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCG GTCACCGTCATCACGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTT GTGATGACCTGGTCACCGTCATCACGTGTGTCCATCAGTTACCTGGTGAA TATTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTGTCTGTCAGT TAACTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCACGTG GGTGCGTCAGTTACCTGGCGAATATTGAGTGTTGTGATGACCCAGTCACC GTCATCACGTGTCCGTCAGTTACCTGGTGAATACTGAATGTTGTGATGAC CCGGTCACCGTCATCACGTGTGTCCGTCAGTTACCTGGTGAATATTGAAT GTTGTGAGGACCCGGTCACCATCATCACGTGTGTCTGTCAGTTACCTGGT GAGTATTGAATGTTGTGATGACCCGATCACCGTCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	180	0.0056	1088	c.41 others(1099): Show c.4139_*4140insGTGATGACGGTGATCGGGTCATCACAACATTCAA TACTCACCAGGTAACTGACAGACACACGTGATGATGGTGACCGGGTCCTC ACAACATTCAATATTCACCAGGTAACTGACGGACACACGTGATGACGGTG ACCGGGTCATCACAACATTCAGTATTCACCAGGTAACTGACGGACACGTG ATGACGGTGACTGGGTCATCACAACACTCAATATTCGCCAGGTAACTGAC GCACCCACGTGATGACGGTGACCGGGTCATCACAACATTCAATATTCACC AGTTAACTGACAGACACACGTGATGACGGTGACCGGGTCATCACAACATT CAATATTCACCAGGTAACTGATGGACACACGTGATGACGGTGACCAGGTC ATCACAACATTCAATATTCACCAGGTAACTGACGGACACACGTGATGACG GTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGATGGACAC ACGTGATGACGGTGACCAGGTCATCACAACACTCAATATTCACCAGGTAA CTGATGGACACACGTGATGACGGTGACCAGGTCATCACAACATTCAATAT TCACCAGGTAACTGACGGACACACGTGATGACGGTGACCGGGTCATCACA ACATTCAATATTCACCAGGTAACTGACGGACACGTGATGACGGTGACCGG GTCATCACAACATTCAATATTCACCAGGTAACTGACAGACACACGTGATG ACGGTGACCGGGTCATCACAACGTTCAATATTCACCAGGTAACTGATGGA CACACGTGATGACGGTGACCAGGTCATCACAACATTCAATATTCACCAGG TAACTGACGGACACACGTGATGACGGTGACCGGGTCATCACAACATTCAA TATTCACCAGGTAACTGACGGACACGTGATGACGGTGACCGGGTCATCAC AACATTCAATATTCACCAGGTAACTGACAGACACACGTGATGACGGTGAC CGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACGTGAT GACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGACAG ACAC	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		2911		chr12	TogoVar
RPH3AL_chr17_207389_357807	355823	A A	AACAGTCG others(1081): Show AACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACAC AGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCA CAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGC GCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACAC ACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCG CCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGC GACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACC ACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCA CAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCC ACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCG CGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACA CACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTCACAGTC GCCTCCACAGGCGACCGCGCACCACACACACTCACAGTCGCCTCCACAGG CGACCGCGCACCACACACACTCACAGTCGCCTCCACAGGCGACCGCGCAC CACACACACTCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTC ACAGTCGCCTCCACAGGCGACCGCGCACCACACACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	133	0.0075	1088	c.-33 others(1099): Show c.-3325_-3324insGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTG TGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCG CGGTCGCCTGTGGAGGCGACTGTGAGTGTGTGTGGTGCGCGGTCGCCTGT GGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTG TGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGT GGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTC GCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGG CGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGT GTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGC GCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTG TGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3017		chr17	TogoVar
SPAAR_chr9_35904490_35916686	35914217	T T	TTGTATGT others(1081): Show TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTGTA AGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTAGTGTGTG TGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTAGTG TGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGT GGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATG CTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATG CTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTG TATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTG TATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTGTGTT TTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTT TTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTG TGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTG TGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTG TGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTG TGTTTTTGTTTGCTGTACTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTG TGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTG TGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTG TGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTG AGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG02723.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0009 a0001c0001t0005g0002 a0001c0001t0005g0009	2	420	0.0048	1088	c.35 others(1099): Show c.3526_*3527insTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTAGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTAGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGT ATGCTGTAGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTAGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGT GTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGT GTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGT GTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGA GTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTA GTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA GTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTG TGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTG TGTAGTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTA TGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGC TGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTTTTTGTTTGCTGTACTGTGTGTGTAAGTTGTA TGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGTAGTGTGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGC TGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGT TGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGT AAGC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2532		chr9	TogoVar
TMEM68_chr8_55733758_55778378	55744308	T T	TAAAATAT others(1081): Show TAAAATATCATCAAAGGAATCCAAAACAGGCAGGCCATATGGAACACACA GTCATGGATTGTACCAAAAGTTGAAAGTATTGCTTACACATCAAAACACA GAAATACACCCTATCCTACAGGTCACACACACACACACACACACACACAC ACACACACACAAAATCACTAGATACTAATTTTTGGAATATTCAACTTTAA AGTAAAAAAAGTAAAAAAAAAAAAAATCACAGGTAAAATGAATAAACAAA ACTTCTGGAATAATTTCTGATTTGCCATTAAATTCTAAATAAATGAGCCA AGAAAAAATTAGAAGAAATAGGCTGGGCACAGTGGCTCACGCCTGTAATC CCAATACTCTGGAAGACCAAGGCGGGGGGCGGGGGGGGCGTGGATCACCT GAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCTTGTCTC TGCTAAAAATACAAAAATTAGCTAGGCATGCTGGCACATGCCTGTAGTCC CAGCTACTCTGGAGGCTGAGGTGGGAGAATCACTTGAAGCTGAGAGGTGG AGGTTGCAGTGAGCCGAAATCATGCCAGCATACTCCAGCCTGGGCAATAG AGAGAGACTCTGTCTCAAAAAAAAAAAGTAAATAAATAAATAAATAAATA AATCCACACAAAAGTTAAAGATCTCATCAATCTTCCTTTCCACTTTAAAT CTGATAAAAAGGGAAAAAAATAAGACTTAAAAAACAATGCAGTACCAACA AAATAGCAATGTTATACATAAAAGAAACAAGGACAGTTTAAAGCTCTTCA GAAGGGGACTTGTAAGTAGATAGGAACATTAACAATAATAGCGCTAGGAT AAAAAACAAAACAAAACAAATAATGCCAGGAATATGTAATATAATCAATT AAATATAATACACAAACCATAGGATACAATAACAAGCTGAATACTTCAAA ATAAGAAACAGGTATTGCAAAGAAAAAGCACACCTAATCATTAACATTGC TATAATTACATTAAAATCTGATTTTTTAAATCTATAAATAAAGGATAGGT AAAAAGAACTTTCCAGTGTAAATGTATTATGGTACAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02129.hp2 others(24): Show HG00438.hp1 HG00673.hp2 HG02129.hp2 HG02135.hp1 HG02698.hp1 HG02738.hp1 HG02922.hp1 HG02976.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 NA18945.hp2 NA18946.hp1 NA18957.hp1 NA18986.hp1 NA18991.hp2 NA18994.hp1 NA19004.hp1 NA19011.hp1 NA19057.hp1 NA19060.hp1 NA19066.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010	a0001c0001t0005g0019 a0001c0001t0005g0071 a0001c0001t0005g0156 others(20): Show a0001c0001t0005g0019 a0001c0001t0005g0071 a0001c0001t0005g0156 a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0164 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0199 a0001c0001t0007g0018 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0141 a0001c0001t0007g0157 a0001c0001t0007g0182 a0001c0001t0007g0183 a0001c0001t0007g0251 a0001c0001t0010g0031	27	372	0.0726	1088	c.749 others(1103): Show c.749-689_749-688insTTTTGTACCATAATACATTTACACTGGAAA GTTCTTTTTACCTATCCTTTATTTATAGATTTAAAAAATCAGATTTTAAT GTAATTATAGCAATGTTAATGATTAGGTGTGCTTTTTCTTTGCAATACCT GTTTCTTATTTTGAAGTATTCAGCTTGTTATTGTATCCTATGGTTTGTGT ATTATATTTAATTGATTATATTACATATTCCTGGCATTATTTGTTTTGTT TTGTTTTTTATCCTAGCGCTATTATTGTTAATGTTCCTATCTACTTACAA GTCCCCTTCTGAAGAGCTTTAAACTGTCCTTGTTTCTTTTATGTATAACA TTGCTATTTTGTTGGTACTGCATTGTTTTTTAAGTCTTATTTTTTTCCCT TTTTATCAGATTTAAAGTGGAAAGGAAGATTGATGAGATCTTTAACTTTT GTGTGGATTTATTTATTTATTTATTTATTTACTTTTTTTTTTTGAGACAG AGTCTCTCTCTATTGCCCAGGCTGGAGTATGCTGGCATGATTTCGGCTCA CTGCAACCTCCACCTCTCAGCTTCAAGTGATTCTCCCACCTCAGCCTCCA GAGTAGCTGGGACTACAGGCATGTGCCAGCATGCCTAGCTAATTTTTGTA TTTTTAGCAGAGACAAGGTTTTGCCATGTTGGCCAGGCTGGTCTCGAACT TCTGACCTCAGGTGATCCACGCCCCCCCCGCCCCCCGCCTTGGTCTTCCA GAGTATTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTATTTCTTCTA ATTTTTTCTTGGCTCATTTATTTAGAATTTAATGGCAAATCAGAAATTAT TCCAGAAGTTTTGTTTATTCATTTTACCTGTGATTTTTTTTTTTTTTACT TTTTTTACTTTAAAGTTGAATATTCCAAAAATTAGTATCTAGTGATTTTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACCTGTAGGATAGG GTGTATTTCTGTGTTTTGATGTGTAAGCAATACTTTCAACTTTTGGTACA ATCCATGACTGTGTGTTCCATATGGCCTGCCTGTTTTGGATTCCTTTGAT GATATTTT	TMEM68	ENSG00000167904.16	transcript	ENST00000434581.7	protein_coding	6/7			chr8	TogoVar

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Search Results (Total: 10000 hits)