Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1063): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGAA AAGGGAAGGAGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAGGG AAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGG GAAGGGGAAAGAAAGGGAGAGGGAGGGGGCAGGGAAGGGAAGGGGAATGG AAGAGGAAGGAAGGGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAA GGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGAAAGGAAAG GGGAATGGAAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGGGGAGGA GAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGGAGG GGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGGAAGGGAAGGG GAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAGGGAAGGGGAAGG GAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGG GGAAAGGAAGGGGGGGAAGGGAAGGTGGAAGGAAGGGGAAGGGGAATGGA AAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGG AAAGGGAAAGGAAGGGGAAGGGAAAGGAAGGGGGAGGGAAAGGAAAGGGG AAGGGAAGGGAAGGGGAAGGGAAGAGAAAGGAAGGGGAAGGGAAGGAGAA GGGGAGGGGAAGGGGAAGGGAAAAGGAGAAGAAGAGGGGAAGGGGAGGGG AAGGGAAGGGGAAAGGAAGGAAGGGGGAGGGGAAAGGAAGGAAGGGGGAG GGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGAAAGGGAAG GGGAAGATGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGA GGGGAAAGGAAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	242	0.0041	1070	c.927 others(1087): Show c.927+4817_927+4818insCCCCTTCCCCTTCCTTTCCCCTCCCCTT CCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCTTCCCCTTCCCT TTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCC TTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCTCC CCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCTTCCCCTCCCCTTCTCCT TCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTCCCTTCCCCTTT CCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCTTC CCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTC CCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCTTTCCCCTTCCC CTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCC CTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCC CTTCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTTGCCTTCCCCTCCCC TTCCCTTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCCCCTTCTCCTCCC CTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCATTCCCCTTTCCT TTCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTC CCCTCCCCCTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCT TCCCCTTCCTTTCCATTCCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCC CCTTCCCTTCCCTGCCCCCTCCCTCTCCCTTTCTTTCCCCTTCCCCTTCC CTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCA TCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCTCCTTCCCTTTTCCCTT CCCTTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(1063): Show AGGGAAGGAAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAA GGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGAAGGGAAGG GAAAAGGGAAGGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAA GGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAACCGGACGGGAAA AGGGAAGGGAAGGGAACCGGGAGAGGGAAAAGGGAAGGGAAGGGAACCGG GACGGGAAAAGGGAAGGGAAGGGAACCGGGAACGGGAAAAGGGAAGGGAA GGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAGAAGGGGAGAGACCAGGACAGG AACCGGGACAGGAAACCGGGAAGGGAAGGGATGGGAACCGATGGGAACCG GGATGGCAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGAAACCG GGACGGCAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGAGAACC GGGAAGGGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAGAGAAC AGGGAAGGGAGGGTAGGGGGAGGGAAACCGGGAAGGAAGAGGAAGGGGAG GGGAGACCGGGACGGGAACTGGGACGGGAAGGGTAGGGAACCGGGCGGGA ACCGGGACGGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGAACCA GGACAGGAACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAGGGAC AGGAATCGGGAAGGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAACCA GGAAAGGAAAGGAAGGGAAGCGGGACGGGAGCCGGGAAGGCAAGAGAAGG GAACCGGGAAGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGAACC GGGAAGGGCAGGGAACCGGGGACAGGAACAGGACGGGAACCGGGAAGGGC AGGGAACCGGGACAGGAACAGGACGGGAAACCGGGAAGGGCAGGGAACCG GCACAGGAAGGAAAGGGAACC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	326	0.0031	1070	c.327 others(1087): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTC CCGGTTCCCGTCCTGTTCCTGTCCCCGGTTCCCTGCCCTTCCCGGTTCCC GTCCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTC TTGCCTTCCCGGCTCCCGTCCCGCTTCCCTTCCTTTCCTTTCCTGGTTCC CTTCCCTTTCCGGTTCCTGTCCCGGTTCCCCTTCCCGATTCCTGTCCCTG TTCCCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCC CGTCCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCC CGGTTCCCTACCCTTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCT TCCTCTTCCTTCCCGGTTTCCCTCCCCCTACCCTCCCTTCCCTGTTCTCT TCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTC TTCCCTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTC CTTCCCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCC CATCGGTTCCCATCCCTTCCCTTCCCGGTTTCCTGTCCCGGTTCCTGTCC TGGTCTCTCCCCTTCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTTCCCTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTT CCCTTTTCCCGTTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTC CCTTCCCTTCCCTTTTCCCTCTCCCGGTTCCCTTCCCTTCCCTTTTCCCG TCCGGTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCTTCCCTT CCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCCTTCCCTTTTCCCTTCCC TTCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTT CCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTTCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(1063): Show AGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGG AAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGG GAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGG AAGGGAAAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGG GAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAC CGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGG AAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAACCAGG ACAGGAACCGGGACAGGAACCGGGAAGGGAAGGGATGGGAACCGATGGGA ACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGAA ACCGGGACGGCAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGAG AACCGGGAAGGGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAGA GAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGGAAGGAAGAGGAAGGG GAGGGGAGACCGGGACGGGAACTGGGACGGGAAGGGTAGGGAACCGGGCG GGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGAA CCAGGACAGGAACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAGG GACAGGAATCGGGAAGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAAC CAGGAAAGGAAAGGAAGGGAAGCGGGACGGGAGCCGGGAAGGCAAGAGAA GGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGAA CCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGG CAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACCG GCACAGGAAGGAAAGGGAACC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	326	0.0031	1070	c.327 others(1087): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTCCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCC TCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCC TTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCC CTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTC CCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATC GGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTTTCCC GTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCC CTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCT TCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCTTCCC TTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTTTCCCTTCCCTTCC CTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTC CCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTTT CCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
CACNA1H_chr16_1148106_1226768	1185978	C C	CGGGGTGT others(1063): Show CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGGCGGGTGAGTAGACGGTCGGCG TGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC AGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC GGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGT AGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTG CGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGG CGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGG TCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTGCGTAGGGGCCGGAGGCG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0004 a0006c0004t0004	a0006c0004t0004g0022 a0006c0004t0004g0022	1	338	0.0030	1070	c.300 others(1087): Show c.300-8843_300-8842insACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGGC GGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGG TGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTA TGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGGTGTGT ACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGT ACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1186074	C C	CGGGGTGT others(1063): Show CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGT GCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTG AGTAGACGGTCGGGCGGGGTGTGTACGAGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGGTGAGTAG ACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGCGTAGGGGCCGGAGGCG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0036 a0036	a0036c0103 a0036c0103	a0036c0103t0001 a0036c0103t0001	a0036c0103t0001g0139 a0036c0103t0001g0139	1	338	0.0030	1070	c.300 others(1087): Show c.300-8843_300-8842insACGTGGGGGGCGGGTGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTG AGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGG GGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGT GGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGAGGCGGG TGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGG CGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGGTGTGTACGG GGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CFAP61_chr20_20047532_20365698	20320519	A A	AATATATG others(1063): Show AATATATGTAATATATATTATATATGTAATATAATATATGTAATATATAT TATATATGTAATATAATATATGTAATATATATTATATATGTAATATATAT TACATATATTATATATGCAATATATATTATATATATTATATATGCAATAT ATATTATATATATTATATATGCAATATATATTATATATATTATATATGCA ATATATATTATATATATTACATATGTAATATATATTACATATGTAATATA TAATATATTATATATTACATATGTAATATATAATATATTACATATGTAAT ATATAATATATTACATATGTAATATATAATATATATTACATATGTAATAT ATTATATATATTACATATGTAATATATAATATATATTACATATGTAATAT ATTATATATTACATATGTAATATATTATATATTACATATGTAATATATAA TATATTATATATTACATATGTAATATATATTACATATGTAATATATATAA TATATATTGCATATATAATATATATAATATATATGTAATATATTATATAT ATTATATATGTAATATATATTACATATATAATATATATTATATATATTAC ATATATTATATATGTAATATATATTACATATGTAATATATGTAATATATA TTACATATGTAATATATATTATATATGTAATATATATTACATATATTATA TATGTAATATATATTATATATATTATATATGTAATGTATAATATATATAT TATATATGTAATATATATTATATATAATATATGTAATATATATTATATAT GTAATGTATATTATATATATTATATATGTAATGTATATTATATATAATAT ATGTAATGTATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATATTATATA TGTAATATATATTATATATATTATATATGTAATATATATTATATATATTA TATATGTAATATATATTATATATATTATATATGTAATATATATTATATAT ATTATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0217 a0003c0005t0001g0217	1	236	0.0042	1070	c.342 others(1091): Show c.3423-21306_3423-21305insGTAATATATATTATATATGTAATA TAATATATGTAATATATATTATATATGTAATATAATATATGTAATATATA TTATATATGTAATATATATTACATATATTATATATGCAATATATATTATA TATATTATATATGCAATATATATTATATATATTATATATGCAATATATAT TATATATATTATATATGCAATATATATTATATATATTACATATGTAATAT ATATTACATATGTAATATATAATATATTATATATTACATATGTAATATAT AATATATTACATATGTAATATATAATATATTACATATGTAATATATAATA TATATTACATATGTAATATATTATATATATTACATATGTAATATATAATA TATATTACATATGTAATATATTATATATTACATATGTAATATATTATATA TTACATATGTAATATATAATATATTATATATTACATATGTAATATATATT ACATATGTAATATATATAATATATATTGCATATATAATATATATAATATA TATGTAATATATTATATATATTATATATGTAATATATATTACATATATAA TATATATTATATATATTACATATATTATATATGTAATATATATTACATAT GTAATATATGTAATATATATTACATATGTAATATATATTATATATGTAAT ATATATTACATATATTATATATGTAATATATATTATATATATTATATATG TAATGTATAATATATATATTATATATGTAATATATATTATATATAATATA TGTAATATATATTATATATGTAATGTATATTATATATATTATATATGTAA TGTATATTATATATAATATATGTAATGTATATTATATATGTAATATATAT TATATATATTATATATGTAATATATATTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATATTATATA TGTAATATATATTATATATATTATATATGTAATATATATTATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20320519	A A	ATAATATA others(1063): Show ATAATATATGTAATATATATTATATATGTAATATATATAATATATGTAAT ATATATTATATATGTAATATATAATATATGTAATATATATTATATATGTA ATATAATATATGTAATATATATTATATATGTAATATATATTACATATATA TGCAATATATATTACATATATTATATATGCAATATATATTATATATATTA TATATGCAATATATATTATATATATTATATATGCAATATATATTATATAT GCAATATATATTATATATATTACATATGCAATATATATTATATATATTAC ATATGTAATATATATTACATATTACATATATAATATATTATATATTACAT ATGTAATATATAATATATATTACATATGTAATATATAATATATATTACAT ATGTAATATATAATATATATTACATATGTAATATATTATATATTACATAT GTAATATATATAATATATTACATATGTAATATATAATATATTATATATGT AATATATATTACATATATAATATATATAATATATATGTAATATATTATAT ATATTATATATGTAATATATATTACATATATAATATATATTATATATTAC ATATATTATATATGTAATATATATTACATATGTAATATATGTAATATATA TTACATATGTAATATATATTATATATGTAATATATATTACATATATTATA TATGTAATATATATTATATATATTATATATGTAATGTATAATATATATAT TATATATGTAATATATATTATATATAATATCTGTAATATATATTATATAT GTAATGTATATTATATATATTATATATGTAATGTATATTATATATAATAT ATGTAATGTATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATATTATATA TGTAATATATATTATATATATTATATATGTAATATATATTATATATATTA TATATGTAATATATATTATATATATTATATATGTAATATATATTATATAT ATTATATATGTAATATATATT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	236	0.0042	1070	c.342 others(1091): Show c.3423-21312_3423-21311insTAATATATGTAATATATATTATAT ATGTAATATATATAATATATGTAATATATATTATATATGTAATATATAAT ATATGTAATATATATTATATATGTAATATAATATATGTAATATATATTAT ATATGTAATATATATTACATATATATGCAATATATATTACATATATTATA TATGCAATATATATTATATATATTATATATGCAATATATATTATATATAT TATATATGCAATATATATTATATATGCAATATATATTATATATATTACAT ATGCAATATATATTATATATATTACATATGTAATATATATTACATATTAC ATATATAATATATTATATATTACATATGTAATATATAATATATATTACAT ATGTAATATATAATATATATTACATATGTAATATATAATATATATTACAT ATGTAATATATTATATATTACATATGTAATATATATAATATATTACATAT GTAATATATAATATATTATATATGTAATATATATTACATATATAATATAT ATAATATATATGTAATATATTATATATATTATATATGTAATATATATTAC ATATATAATATATATTATATATTACATATATTATATATGTAATATATATT ACATATGTAATATATGTAATATATATTACATATGTAATATATATTATATA TGTAATATATATTACATATATTATATATGTAATATATATTATATATATTA TATATGTAATGTATAATATATATATTATATATGTAATATATATTATATAT AATATCTGTAATATATATTATATATGTAATGTATATTATATATATTATAT ATGTAATGTATATTATATATAATATATGTAATGTATATTATATATGTAAT ATATATTATATATATTATATATGTAATATATATTATATATATTATATATG TAATATATATTATATATATTATATATGTAATATATATTATATATATTATA TATGTAATATATATTATATATATTATATATGTAATATATATTATATATAT TATATATGTAATATATATTATATATATTATATATGTAATATATATT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1063): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGGTGAGGGGAGGCAGGG GAGATGGTGAGGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGGAGAGGG TAGGGGAGGGAGGGGAGAGGGTAGGGGAGGGAGGGAGAGGAGGGGAGAGG GTAGGGAGGGAGAGGAGGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGG AAAGAGGAGGGAGGGGAGAGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAA GGAGGGGAAATGGTATGGGAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAG GGAGCAGAGGGGAAAGGGTAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGA GGTAGGGAGGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGG AGAGGGTAGGGGAGGGAAGGAGGGGAGACGGTAGAGGAGGGAGGAGGGGA GAGGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGGGAG AGGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGGAGG AGGGAAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGAGGGGA GGAGGGGAGAGGGTGGGGAGGAGGGGAGAGGTTAGGGAGGGAGGGAGAGG AGGGGAGAGGGTAGGGGAGGGAAGGAGGGGAGAGGGTAGAGGAGGGAGGA GGGGAGAGGGGAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGA GGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGG GGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGA GGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGG GAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGAGGAGGGAGGGAG GGCAGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGG AGGGAGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGAGGGGAGAGGGTAG GGAGGGAGGGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0027 a0027	a0027c0034 a0027c0034	a0027c0034t0001 a0027c0034t0001	a0027c0034t0001g0140 a0027c0034t0001g0140	1	278	0.0036	1070	c.328 others(1087): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTCCCTACC CTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTC CCTCCTCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCT CCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCC CTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCT CCCTACCCTCTCCCCTCCTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTCC CTACCCTCTCCCCTCCTCTTCCTCCCTCCCCTCCCCTCTCCCCTCCTCCC TCCTCTACCCTCTCCCCTCCTTCCCTCCCCTACCCTCTCCCCTCCTCTCC CTCCCTCCCTAACCTCTCCCCTCCTCCCCACCCTCTCCCCTCCTCCCCTC CCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTTCCCTCCTCCCC TCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCCTCTCCTCTCCCTC CCTCCCTACCCTCTCCCCTCCTCTTCCTCCCTCCCCTACCCTCTCCCCTC CTCCCTCCTCTACCGTCTCCCCTCCTTCCCTCCCCTACCCTCTCCCCTCC CCTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCTCCCTACCTCCCCTA CCCTCTCCCTTCCTTCCCTCCCCTACCCTTTCCCCTCTGCTCCCTCTCTC CCCTACCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCCTCCTTCCCTC CCCTACCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTCTTTCCTCTCC CCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCCTACCCTCTCC CCTCCTCTCCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCTACCCTCTC CCCTCCCTCCCCCACCCTCTCCCCTCCCTCCCCTCACCATCTCCCCTGCC TCCCCTCACCCCTCTCTCCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1063): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGTAGGGGAG GGAGGGGAGAGGGTAGGGGAGGGAGGGAGAGGAGGGAGAGGGTAGGGAGG GAGAGGAGGGGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGAG GGAGGGGAGAGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGAA ATGGTATGGGAGGGAGGGAGGGGAGAGGGTAGGGGGAGAGAGGGAGCAGA GGGGAAAGGGTAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGA GGGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGGAGAGGGT AGGGGAGGGAAGGAGGGGAGACGGTAGGGGAGGGAGGAAGAGGAGGGGAG AGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAG GGTAGGGAGGGAGGGGGAGGAGGGAAGAGGGTAGGGAGGGAGGGAGAGGA GAGGGGAGGGAGGGAGGGGAGGAGGGGGAGAGGGTGGGGAGGAGGGGAGA GGTTAGGGAGGGAGGGAGAGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGG GAGAGGGTAGAGGAGGGAGGAGGGGAGAGGGGAGGGGAGGGAGGAAGAGG AGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAG GGGAGAGGGTAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGG AGAGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAG GGAGAGGAGAGGGGAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGG AGGGAGAGAGGAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGAGGGAGG GCAGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGGGA GGGGAGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGAGGGGAGAGGGTAG GGAGGGAGGGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0053 a0003c0003t0003g0053	1	278	0.0036	1070	c.328 others(1087): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCCTCCCTAC CCTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCT CCCTACCCTCTCCCCTCCTGCCCTCCCTCCCTCCTCTCTCCCTCCCTCCC TACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCCTC CCTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTCCCTCCC TCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTACCCTCTCCCCTCCTCC CCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCTTC CTCCCTCCCCTCCCCTCTCCCCTCCTCCCTCCTCTACCCTCTCCCCTCCT TCCCTCCCCTACCCTCTCCCCTCCTCTCCCTCCCTCCCTAACCTCTCCCC TCCTCCCCACCCTCTCCCCCTCCTCCCCTCCCTCCCTCCCCTCTCCTCTC CCTCCCTCCCTACCCTCTTCCCTCCTCCCCCTCCCTCCCTACCCTCTCCC CTCCTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCTCCCCT CCTCTTCCTCCCTCCCCTACCGTCTCCCCTCCTTCCCTCCCCTACCCTCT CCCCTCCCCTACCCTCTCCCCTCCCCTACCCTCTCCCCTCCCCTCCCTAC CTCCCCTACCCTCTCCCTTCCTTCCCTCCCCTACCCTTTCCCCTCTGCTC CCTCTCTCCCCCTACCCTCTCCCCTCCCTCCCTCCCATACCATTTCCCCT CCTTCCCTCCCCTACCCGCTCCCCTCCCTCCCCTCTCCCCTCCCTCCTCT TTCCTCTCCCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCTCTCCCTCCCT ACCCTCTCCCTCCTCTCCCTCCCTCCCCTACCCTCTCCCCTCCCTCCCCT ACCCTCCCTCCCCCACCCTCTCCCCTCCCTCCCCTCACCATCTCCCCTGC CTCCCCTCACCCTCTCTCCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
CH25H_chr10_89200629_89212317	89204838	T T	TGGATTTC others(1063): Show TGGATTTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTAACAGTAAAATAGACTTTATTTCTTTATCATAAATTAAA TTACACTAGAAGTTAAAAATATCTAGCAGTCTTGAGTATCTCAAAATTAA ACAATTCAATTCGAATCAATCAAAGTGTAAATGAAGGAATTACAAGATGA AGTAGCAAATAGTATACTAAATGATAAGAAAAACTCAATGTATAAACATT TGTAGAAAGGTGCAAAACATTCATAAATGTAAATATATGAATTCAAATGC TTACATTACAGGTTTTATGAAAAGAACAATAAAAAGTTCTAAAACTATCT AAATTGGTCACAAAAAAAGAAAAAATAGGATATTCATTTTTGGTAAAAAT CCCAAAATACAAGGTATAAAAGGGAACTCCCTCAAGTACATATAGAATAT AAAGTATATTTTTGGAGAGTAAATATTTAGAAAGTGATTTGATTTGGCTG TATCCCCACCCAAATCTCATCTTGAATTGTAGTTCCCATAATCCCCATGT GTCATGGGAGGCATCTGGTAAGAGGTAATTGAATCATGGGGGCAGTTACT CTCATGCTGGCTTCATGATAATGAGTTCCCATGAGATCTTAGCACATGAC TTAGAATAGTAAGAACGTTTTTAAAATAACGTTCTTACTATTCTAAGTCA TGTGCAATTTAGCTAAAAATTTCAGAATCATCTTGCCAAGTCTCAAAACT TTTGCTGGAATTTTTAATGAGATTGCATTAAATCTTTTTATGTATTTGGG AAAATAGAGCATCTTAACAAATTTGAGTCGTCCAGTCCTCTAGCATGGGA TATCTTTCTGTATTAATCCATTTTCACTCTGCTAATAATGACACACCCGG CACTAGATAATTTATAAAGGAAAACAATTTAATTGTCTCCATCCCGCAGG CCTGGGGAGGCCTCAGGAAATTTGCAATCGTGACAGAAGGGGAAGCAAAC ATGGCCTCGTTCACAGGGCAGCAAGAAGTGCTGAGCGAAAGAGTGAATAG GCCCCTTAAAAAGATCTCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	384	0.0026	1070	c.16 others(1081): Show c.1635_*1636insCATGAGATCTTTTTAAGGGGCCTATTCACTCTTT CGCTCAGCACTTCTTGCTGCCCTGTGAACGAGGCCATGTTTGCTTCCCCT TCTGTCACGATTGCAAATTTCCTGAGGCCTCCCCAGGCCTGCGGGATGGA GACAATTAAATTGTTTTCCTTTATAAATTATCTAGTGCCGGGTGTGTCAT TATTAGCAGAGTGAAAATGGATTAATACAGAAAGATATCCCATGCTAGAG GACTGGACGACTCAAATTTGTTAAGATGCTCTATTTTCCCAAATACATAA AAAGATTTAATGCAATCTCATTAAAAATTCCAGCAAAAGTTTTGAGACTT GGCAAGATGATTCTGAAATTTTTAGCTAAATTGCACATGACTTAGAATAG TAAGAACGTTATTTTAAAAACGTTCTTACTATTCTAAGTCATGTGCTAAG ATCTCATGGGAACTCATTATCATGAAGCCAGCATGAGAGTAACTGCCCCC ATGATTCAATTACCTCTTACCAGATGCCTCCCATGACACATGGGGATTAT GGGAACTACAATTCAAGATGAGATTTGGGTGGGGATACAGCCAAATCAAA TCACTTTCTAAATATTTACTCTCCAAAAATATACTTTATATTCTATATGT ACTTGAGGGAGTTCCCTTTTATACCTTGTATTTTGGGATTTTTACCAAAA ATGAATATCCTATTTTTTCTTTTTTTGTGACCAATTTAGATAGTTTTAGA ACTTTTTATTGTTCTTTTCATAAAACCTGTAATGTAAGCATTTGAATTCA TATATTTACATTTATGAATGTTTTGCACCTTTCTACAAATGTTTATACAT TGAGTTTTTCTTATCATTTAGTATACTATTTGCTACTTCATCTTGTAATT CCTTCATTTACACTTTGATTGATTCGAATTGAATTGTTTAATTTTGAGAT ACTCAAGACTGCTAGATATTTTTAACTTCTAGTGTAATTTAATTTATGAT AAAGAAATAAAGTCTATTTTACTGTTAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGTGAAATCC	CH25H	ENSG00000138135.7	transcript	ENST00000371852.4	protein_coding		790		chr10	TogoVar
COL4A2_chr13_110302284_110518209	110481833	T T	TGCTGGAG others(1063): Show TGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTG TCCCTCCGTGCTGGAGACACACTGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTG CTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACA CAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGC TGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCC TTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACAC TGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGGCACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCC TTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACAC AGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCT GGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCC TCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTG CTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGGCACACTGTTCTGTCCTTCCATTGCTGGA GACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTC CGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGC TCTGTCCTTCCATTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACTGCTCTGTCCCTCCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02922.hp2 HG02965.hp2	a0002 a0002	a0002c0054 a0002c0056 a0002c0054 a0002c0056	a0002c0054t0045 a0002c0056t0004 a0002c0054t0045 a0002c0056t0004	a0002c0054t0045g0233 a0002c0056t0004g0266 a0002c0054t0045g0233 a0002c0056t0004g0266	2	372	0.0054	1070	c.275 others(1087): Show c.2759-683_2759-682insGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGTTCTG TCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACA CACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTT GCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTG TCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACAC ACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTGC TGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTC CTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACA CTGTTCTGTCCCTCCGTTGCTGGAGGCACACTGTTCTGTCCTTCCATTGC TGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTC CCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACA CTGCTCTGTCCTTCCATTGCTGGAGACACACTGCTCTGTCCCTCCGTGCT GGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCC TCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGGCACACTG TTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGG AGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG CTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1063): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GTGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGTGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTT TATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGA GGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAG TGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGA TAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCG GGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAG TTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATA TGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0186 a0001c0003t0044g0186	1	272	0.0037	1070	c.109 others(1089): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGG GGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGC CAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTAT AGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGT GGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGT GTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGAT AATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGG GCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGT TTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1063): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGT TTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGG AGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGA GTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAG ATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAG TTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATA TGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	272	0.0037	1070	c.109 others(1089): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGG CCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTA TAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGG TGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGG TGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAATTTATAGATAATATGAGGGTGGG GCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGT TTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958279	T T	TTACTACT others(1063): Show TTACTACTATAACCACCACCACCACCACCACCACCACTATAATCATTACC ACTATAACCACCACTACCACCACCACCACCATTATAACCATCACCACCAC CACTATAACCACCATCATCACCACCACCACTACCACTACTATAACCATCA CCACCATCACTGCTATAATCACCACCACCACCACCATCACTATAACCATC ACCACCATCACCACTATAACCACCACTACCACCACCACCATTATAACCAT CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTA CAACCATTACCACCATCACTGCTATAACCACCACCACCACCACCACCACT ATAACCACCATCATCATCACCACCACTACCACTACTATAACCATCACCAC CATCACTGCTATAACCACCACCACCACCACTATAACCACCACCACCACCA CCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACTACC ACTATGATAACCATCACCAACACCACTATAACCACCATCATCATCACCAC CACTACCACTACTATAACCATTACCACCATCACTGCTATAACCACCACCA CCACCACTATAACCATCACCACCATCACCACTATAACCACCACTACCACC ACCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTATAACCATTACCACCATTACTACTATAACCACCA CCACCACCACCACCACCACTATAATCATTACCACTATAACCACCACTACC ACCACTACCACTATGATAACCATCACCAACACCACTATAACCACCAATGC CAAGAAGTGTTCATAGCAGGAGTCATAAACACAGGACCAACCAGGGATAG GACCAACCAGGACCAACCAGGACCAACACCACCACCACTACTACCACTAC TATAACCATCACCACCATCACTGCTATAATCACCACCACCACCACCATCA CTATAATCATCACCATCATCACCACTATAACCACCACTACCACCACCACC ACCAGTTATAACCATCACCAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0210 a0001c0004t0005g0210	1	230	0.0044	1070	c.724 others(1089): Show c.724-10823_724-10822insGTGGTGATGGTTATAACTGGTGGTGG TGGTGGTAGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAGTGATG GTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGT GGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTATC CCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCATT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGAT GATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGG TAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTG GTGGTTATAGCAGTGATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGT GATGATGATGGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAG TGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTG GTGGTGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGT GATGGTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGG TGGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTATAGTGATGGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATG GTTATAGTAGTGGTAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGT GGTGATGGTTATAATGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAA TGATTATAGTGGTGGTGGTGGTGGTGGTGGTGGTTATAGTAGTA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(1063): Show GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0070 a0001c0004t0001g0070	1	170	0.0059	1070	c.86- others(1083): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCG TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(1063): Show GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG TCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0071 a0001c0004t0001g0071	1	170	0.0059	1070	c.86- others(1083): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCG TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
GTPBP6_chrX_299759_323796	322045	A A	AAAAAAAA others(1063): Show AAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAA AAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATC TACAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGG TGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCT TGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTA TCTACAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTG TGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGG ATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACC CTATTATCTACAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGG TGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGA GGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGA CCCTATTATCTACAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCT GGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGG GAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAA GACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAAT TAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTG AGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATA TGGTAAGACCCTATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0105 a0001c0003t0001g0105	1	155	0.0065	1070	c.-32 others(1081): Show c.-3259_-3258insGTAGATAATAGGGTCTTACCATATTGCCCATGCT GGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTT TTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCC CATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTC CCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTC TTTCTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTG CCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCG TCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTT TCTTTCTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATAT TGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAG CGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATT TTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTA CCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCA CCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCAGG CTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCT TACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCA GGCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAG GGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAAT CCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCA CACCAGGCTAATTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3250		chrX	TogoVar
KREMEN1_chr22_29068035_29151820	29120118	G G	GGGAGAGG others(1063): Show GGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAT GGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGA GGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAACAGAGAGGAAGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAA GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGG AGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGG AAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAT GGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAT GGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAACAGAGAGGAA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0216 a0002c0003t0003g0216	1	368	0.0027	1070	c.353 others(1087): Show c.353-1226_353-1225insAGGAAACAGGGAGGAGGGAGAGGTGATG ATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGA AACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGAGAGGAAGGA GAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAG GAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAG GTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAG GGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATG GAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATG GAAACAGGAAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTG ATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGA GAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAG GAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAG GTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAG GGAGAGGTGATGAAGGAAACAGAGAGGAAGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAIR1_chr19_54346384_54369931	54349830	G G	GTGAATGG others(1063): Show GTGAATGGATGGAGGACACAGATCCTGAGGGTGAATGGATGGAGGACACA GATCCTGAGGGTGGATGGATGGAGGGAGGACACAGATCCTGAGGATGGAT GGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCT GAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGA CGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTGAAT GGATGGAGGACACAGATCCTGAGGGTGAATGGATGGAGGACACAGATCCT GAGGGTGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGG AGGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGAT GGATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGA TCCTGAAGGTGAATGGATGGAGGACGCAGATCCTGAGGGTGGATGGATGG AGGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGA GGATGGATGGAGGGAGGACACAGATCCTGAGGGTGGATGGATGGAGGACA GAGATCCTGAGGATGGATGGAGGGAGGACACAGATCCTGAGGATGGATGG AGGGAGGACGCAGATCCTGAGGATGAATGGATGGAGGACACAGATCCTGA GGGTGAATGGATGGAGGACACAGATCCTGAGGGTGGATGGATGGAGGGAG GACACAGATCCTGAGGATGGATGGAGGGAGGACACAGATCCTGAGGATGG ATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATC CTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGAG GACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGG ATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATC CTGAGGGTGAATGGATGGAGGACGCAGATCCTGAGGGTGGACGGATGGAG GGAGGACGCAGATCCTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	462	0.0022	1070	c.54 others(1081): Show c.5437_*5438insTCCTCAGGATCTGCGTCCTCCCTCCATCCGTCCA CCCTCAGGATCTGCGTCCTCCATCCATTCACCCTCAGGATCTGCGTCCTC CCTCCATCCATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGAT CTGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCA TCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTC CCTCCATCCATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGAT CTGTGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCA TCCACCCTCAGGATCTGTGTCCTCCATCCATTCACCCTCAGGATCTGTGT CCTCCATCCATTCATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCA GGATCTGTGTCCTCCCTCCATCCATCCTCAGGATCTCTGTCCTCCATCCA TCCACCCTCAGGATCTGTGTCCTCCCTCCATCCATCCTCAGGATCTGCGT CCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCACC CTCAGGATCTGCGTCCTCCATCCATTCACCTTCAGGATCTGCGTCCTCCC TCCATCCATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCT GCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCATC CTCAGGATCTGCGTCCTCCCTCCATCCATCCACCCTCAGGATCTGTGTCC TCCATCCATTCACCCTCAGGATCTGTGTCCTCCATCCATTCACCCTCAGG ATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCCTCCATC CATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCC TCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCATCCTCAGG ATCTGTGTCCTCCCTCCATCCATCCACCCTCAGGATCTGTGTCCTCCATC CATTCACCCTCAGGATCTGTGTCCTCCATCCATTCA	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1553		chr19	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(1063): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGG TGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGG GATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGG TGGGTGGGTGGAGGGATAGATGGGTGGGTGGAGGGATAGATGGGTGGTGG GTGGGTGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGT GGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGG GTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGAGGAATAGAT GGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGG GTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGGGGGTGGGT GGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGA TGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGATAGGTG GATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGA TGGGTGGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGGTGGGTGGAGG GATAGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGATGGGTGGG TGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGATG GGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGG TGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGGTGGGTGGAGGGATA GATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAG GGATAGGTAGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGG AGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGT GGGTGGGTGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0015 a0002c0012t0001g0015	1	186	0.0054	1070	c.450 others(1087): Show c.450+1910_450+1911insCACCTATCCATCCACCCACCCACCCACC CACCCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCA CCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCCTCCACC CACCCACCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATCCCT CCACCCACCCACCCCCCCATCTATCCCTCCACCCACCCACCCACCTATCC ATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCAC CTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCC ATCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCAC CCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCATCTATCC CTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCTAT CCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCC ATCTATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACC CCCCCATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCA CCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATT CCTCCACCCACCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTA TCCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACCTACC TATCCTTCTACCCACCCATCCACCCATCTATCCCTCCACCCACCCACCAC CCATCTATCCCTCCACCCACCCATCTATCCCTCCACCCACCCACCCACCC ACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCAC CCACCCATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCC ATCTATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCAC CTACCTATCCTTCTACCCACCCACCCATCTATCCCTCCACCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LDLRAD4_chr18_13213760_13657751	13262129	C C	CGTGGGGG others(1063): Show CGTGGGGGCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTG TGGCTCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAA CTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGTGCGGCCCTG TGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCG TGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGAAA CTGAGTCCCGTGTGGCTCTGTGTGTGGAAACTGAGTCCCGTGCAGCTCTG TGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGGAAACTGAGTCCCG TGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGCCCTGTGCATGGAAA CTGAGTCCCGTGTGGCTCTGTGTGCCTGGGGGATGAGTCCTGTGTGGCTC TGTGTGTGTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGGAAACTGAGT CCCGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGCGGCTCTGTGCG TGGGGGCTGAGTCCCGTGTGGCTCTGTGCGTGGAAACTGAGTCCCGTGTG GCTCTGTGTGCCTGGGGGATGAGTCCTGTGTGGCTCTGTGTGTGTGGAAA CTGAGTCCCGTGTGGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTG TGTGTGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCC CGTGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCTGTGCGTGGA AACTGAGTCCCGTGTGGCTCTGTGTGTGGAAACTGAGTCCCGTGCAGCTC TGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGGAAACTGAGTCC CGTGCGGCCCTGTGCGTGGGGGCTGAGTCCCGTGTGGCCCTGTGCATGGA AACTGAGTCCCGTGTGGCTCTGTGTGCCTGGGGGATGAGTCCTGTGTGGC TCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGGAAACTGA GTCCCGTGTGGCTCTGTGTGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0092 a0001c0001t0020g0092	1	178	0.0056	1070	c.-46 others(1091): Show c.-466-15972_-466-15971insGGGCTGAGTCCCGTGCGGCCCTGT GCGTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGGGCTGAGTCCCGT GTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCTCTGTGCGTGGGG GCTGAGTCCCGTGCGGCCCTGTGCGTGGAAACTGAGTCCCGTGCGGCTCT GTGCGTGGGGGCTGAGTCCCGTGCGGCTCTGTGCGTGGAAACTGAGTCCC GTGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGGAA ACTGAGTCCCGTGCAGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCT GTGTGTGGAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTCCC GTGTGGCCCTGTGCATGGAAACTGAGTCCCGTGTGGCTCTGTGTGCCTGG GGGATGAGTCCTGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGG CCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAACTG AGTCCCGTGCGGCTCTGTGCGTGGGGGCTGAGTCCCGTGTGGCTCTGTGC GTGGAAACTGAGTCCCGTGTGGCTCTGTGTGCCTGGGGGATGAGTCCTGT GTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGTGGCCCTGTGCGTGGAA ACTGAGTCCCGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGCGGCT CTGTGCGTGGGGGCTGAGTCCCGTGCGGCTCTGTGCGTGGAAACTGAGTC CCGTGCGGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGG AAACTGAGTCCCGTGCAGCTCTGTGCGTGGAAACTGAGTCCCGTGTGGCT CTGTGTGTGGAAACTGAGTCCCGTGCGGCCCTGTGCGTGGGGGCTGAGTC CCGTGTGGCCCTGTGCATGGAAACTGAGTCCCGTGTGGCTCTGTGTGCCT GGGGGATGAGTCCTGTGTGGCTCTGTGTGTGTGGAAACTGAGTCCCGTGT GGCCCTGTGCGTGGAAACTGAGTCCCGTGTGGCTCTGTGTGTGTGG	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCGCTTAC others(1063): Show CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0020 a0001c0001t0038g0020	1	296	0.0034	1070	c.368 others(1087): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AAAGGGAG others(1063): Show AAAGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAA AGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAG AGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAG AGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	250	0.0040	1070	c.225 others(1087): Show c.225-2394_225-2393insAAGGGAGGAGAGAGAGGGAAAGAGAGAG AGAAGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAG AGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGG AAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGA GGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGA GAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6			chr22	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1063): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAAAAACACAAAAAAATTCTGTCTTTTAGTTTTTAAGA CCAAAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTAC AGACTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAATGGGAAATCACTCA ATACAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCT TTGGGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAAT TTACAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTAT TGCTGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAA TTTTTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACT AGTTCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTG ATACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCGGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCCAGCTAATT TTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTCT AAGAAACTAAGAGTTACTATACTCAAGTAGGAACACTAGGCCAAGTGCAG TGGCTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02809.hp1 HG03130.hp1 others(2): Show HG02717.hp2 HG02809.hp1 HG03130.hp1 HG04115.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0288	5	322	0.0155	1070	c.310 others(1087): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCACTGCACT TGGCCTAGTGTTCCTACTTGAGTATAGTAACTCTTAGTTTCTTAGAAAAA GAGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGC TGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC CGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCTGTACCAT ATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTAAA AACTAAAAGACAGAATTTTTTTGTGTTTTTTTTTTTTTTTTTTTAAATGG AGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCA CTGCAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTACAGGCATCTGCCACCACACCCAGCGAATTTTTGTA TTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACT CCTGACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73294866	T T	TGCACTTT others(1063): Show TGCACTTTAGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAA GACCAGCCTGGCCAACATGGTGAAACTCTGTCTCTACTAAAAATACAAAA ATTCGCTGGGTGTGGTGGCGGATGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCCG AGATTGCACCATTGCACTCCAGCCTAGGCGACAGAGCCAGACTCCATTTA AAAAAAAAAAAAAAAACACAAAAAAATTCTGTCTTTTAGTTTTTAAGACC AAAAGACTAAGTGTTTCTCACTGAAGTTAGAGCTACCCTATATGGTACAG GACTAGGGCCTATCCTTAGGCTAGAAGCTGTGAAAATGGGAAATCACTCA ATACAATTTCCTTCTTCTAAGTGTCAGCTTTTCTCTAGAATCTATCTGCT TTGGGTTATTTTCTAGTGCCTTCGAATAATTGGGTTATTTTGTTTAGAAT TTACAGTTGTTTGCTAGAGGGTCAGTCCAACAGACGCTCTATTTAGCTAT TGCTGCAAGTGAAACACACTGAAGAGTCATTTTAAAACTTGTTTTTCTAA TTTTTTTCTTTGTAACATAAATTTCATTTCCATTCACATTTCCATCTACT AGTTCAATTACATTTCCATTTGCAATTCATTTAGCTCTTCTTTTTTTTTG ATACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCGGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCTCCCGCCACCACGCCCAGCTAATT TTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTAACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACTGCACCTGGCCATTCATTTATCTCTTTTTC TAAGAAACTAAGAGTTACTATACTCAAGTAGGAACATACATAGTGATGTT TGGCTCACACCTGTAATCCCA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	322	0.0031	1070	c.310 others(1087): Show c.310-1993_310-1992insTGGGATTACAGGTGTGAGCCAAACATCA CTATGTATGTTCCTACTTGAGTATAGTAACTCTTAGTTTCTTAGAAAAAG AGATAAATGAATGGCCAGGTGCAGTGGCTCACACCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCAGATCACGAGGTTAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGC TGGGCGTGGTGGCGGGAGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC CGGAGAATGGCGTGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTATCAAAAAA AAAGAAGAGCTAAATGAATTGCAAATGGAAATGTAATTGAACTAGTAGAT GGAAATGTGAATGGAAATGAAATTTATGTTACAAAGAAAAAAATTAGAAA AACAAGTTTTAAAATGACTCTTCAGTGTGTTTCACTTGCAGCAATAGCTA AATAGAGCGTCTGTTGGACTGACCCTCTAGCAAACAACTGTAAATTCTAA ACAAAATAACCCAATTATTCGAAGGCACTAGAAAATAACCCAAAGCAGAT AGATTCTAGAGAAAAGCTGACACTTAGAAGAAGGAAATTGTATTGAGTGA TTTCCCATTTTCACAGCTTCTAGCCTAAGGATAGGCCCTAGTCCTGTACC ATATAGGGTAGCTCTAACTTCAGTGAGAAACACTTAGTCTTTTGGTCTTA AAAACTAAAAGACAGAATTTTTTTGTGTTTTTTTTTTTTTTTTTAAATGG AGTCTGGCTCTGTCGCCTAGGCTGGAGTGCAATGGTGCAATCTCGGCTCA CTGCAACATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCT GAGTAGCTGGGATTACAGGCATCCGCCACCACACCCAGCGAATTTTTGTA TTTTTAGTAGAGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACT CCTGACCTCAAGTGATCCACCCACCTCAGCCTCCTAAAGTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	7/12			chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237775	A A	ATATATAC others(1063): Show ATATATACTATATATAGTATATATATAGTATATATACTATATATAGTATA TATACTATATAGTACATATAGTACATATAGTATATATACTATATATACTA TATAGTACATATAGTACATATAGTACATATACTATATATACTATATAGTA CATATAGTACATATAGTACATATACTATATATACTATATAGTACATATAG TACATATAGTATATGTACTATATGTACTATATAGTACATATAGTACCTAT AGTATATATACTATATAGTACATATAGTATATATAGTATATATACTATAT AGTACATATAGTATATATAGTATATATACTATATAGTACATATAGTATAT ATACTATATATACTATATAGTACATATAGTATATATACTATATGTACTAT ATGTACTATATAGTATATATACTATATATACTATATAGTACATATAGTAT ATATACTATATATACTATATGTACATATAGTATATATACTATATGTACTA TATAGTACATATAGTATATATACTATATGTACTATATAGTACATATAGTA TATATACTATATGTACTATATAGTACATATAGTATATATACTATATGTAC TATATAGTACATATAGTATATATACTATATGTACTATATAGTACATATAG TATATATACTATATAGTATATATACTATATAGTACATATAGTATATATAC TATATAGTATATATTTTATAGTATATATAGTATATATACTATATAGTATA TATTTTATAGTATATATAGTATATATACTATATAGTATATATACTATATA TACTATATAGTATATATTTTATAGTATATATACTATATAGTATATATAGT ATATATACTATATAGTATATATAGTATATATACTATATAGTATATATTTT ATAGTATATATACTATATAGTATATATTTTATAGTATATATACTATATAG TATATATTTTATAGTATATATACTATAAATTACATAATTTATATATTATA TATAATACATAATATATATTTATATATTATATTAAATATATATTATATAT TATATATAATATAGAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	439	0.0023	1070	c.-15 others(1081): Show c.-1568_-1567insTATATACTATATATAGTATATATATAGTATATAT ACTATATATAGTATATATACTATATAGTACATATAGTACATATAGTATAT ATACTATATATACTATATAGTACATATAGTACATATAGTACATATACTAT ATATACTATATAGTACATATAGTACATATAGTACATATACTATATATACT ATATAGTACATATAGTACATATAGTATATGTACTATATGTACTATATAGT ACATATAGTACCTATAGTATATATACTATATAGTACATATAGTATATATA GTATATATACTATATAGTACATATAGTATATATAGTATATATACTATATA GTACATATAGTATATATACTATATATACTATATAGTACATATAGTATATA TACTATATGTACTATATGTACTATATAGTATATATACTATATATACTATA TAGTACATATAGTATATATACTATATATACTATATGTACATATAGTATAT ATACTATATGTACTATATAGTACATATAGTATATATACTATATGTACTAT ATAGTACATATAGTATATATACTATATGTACTATATAGTACATATAGTAT ATATACTATATGTACTATATAGTACATATAGTATATATACTATATGTACT ATATAGTACATATAGTATATATACTATATAGTATATATACTATATAGTAC ATATAGTATATATACTATATAGTATATATTTTATAGTATATATAGTATAT ATACTATATAGTATATATTTTATAGTATATATAGTATATATACTATATAG TATATATACTATATATACTATATAGTATATATTTTATAGTATATATACTA TATAGTATATATAGTATATATACTATATAGTATATATAGTATATATACTA TATAGTATATATTTTATAGTATATATACTATATAGTATATATTTTATAGT ATATATACTATATAGTATATATTTTATAGTATATATACTATAAATTACAT AATTTATATATTATATATAATACATAATATATATTTATATATTATATTAA ATATATATTATATATTATATATAATATAGAATATAT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1510		chr14	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(1063): Show AGGGGGATGTGGGAGATGAGGGGGACGGGGGGGACGGGGGGGACGCGGGG GACGCGGGGGGACGCGGGGGGCGGGGGGGACGCGGGGGACGGGGGGGACG GGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGG GACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGC GGGGGACGAGGGGGACGCGGGGGGCGGGGGGGACGCGGGGGACGGGGGGG ACGGGGGGGACGAGGGGGACGCGGGGGGACGGGGGGGACGGGGGGGACGG GGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGAGGGGG ACGCGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGC GGGGGGACGCGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGG GGACGGGGGGGACGGGGGGGACGCGGGGGGACGCGGGGGGCGGGGGGGAC GCGGGGGACGGGGCGGACGGGGGGACGGGGGGGACGCGGGGGACGGGGGG GACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGC GGGGGGCGGGGGGGACGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGA CGGGGGGGGCGGGGGGGGGACGCGGGGGGACGCGGGGGGCGGGGGGGACG CGGGGGACGGGGCGGACGGGGGGACGGGGGGGGACGCGGGGGACGGGGGG GACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGC GGGGGGCGGGGGGGACGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGA CGGGGGGGGCGGGGGGGGACGCGGGGGGACGCGGGGGGCGGGGGGGACGC GGGGGACGGGGCGGACGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGA CGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGCGGGG CGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGAC GCGGGGGGACGGGGGGGACGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0011 a0001c0025t0001g0011	1	188	0.0053	1070	c.147 others(1087): Show c.1474-959_1474-958insCCGTCCCCCCCGTCCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCGCCCCGCC CCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCC CGTCCCCCGCGTCCCCCCCGTCCCCCCGTCCGCCCCGTCCCCCGCGTCCC CCCCGCCCCCCGCGTCCCCCCGCGTCCCCCCCCGCCCCCCCCGTCCCCCG CGTCCCCCCCGTCCCCCCCGTCCCCCCGTCCCCCCCGCCCCCCGCGTCCC CCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCG TCCCCCGCGTCCCCCCCCGTCCCCCCGTCCGCCCCGTCCCCCGCGTCCCC CCCGCCCCCCGCGTCCCCCCGCGTCCCCCCCCCGCCCCCCCCGTCCCCCG CGTCCCCCCCGTCCCCCCCGTCCCCCCGTCCCCCCCGCCCCCCGCGTCCC CCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCG TCCCCCGCGTCCCCCCCGTCCCCCCGTCCGCCCCGTCCCCCGCGTCCCCC CCGCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCGCGTCCCCCCGCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCGCGTCCCCCTC GTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCC CCCCGTCCCCCCCGTCCCCCCGCGTCCCCCTCGTCCCCCCCGTCCCCCCC GTCCCCCGCGTCCCCCCCGCCCCCCGCGTCCCCCTCGTCCCCCGCGTCCC CCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCG TCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCC CCCGTCCCCCGCGTCCCCCCCGCCCCCCGCGTCCCCCCGCGTCCCCCGCG TCCCCCCCGTCCCCCCCGTCCCCCTCATCTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RASA3_chr13_113972783_114137623	114044353	A A	AGCCCCCC others(1063): Show AGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCGTCACTCGCTG AGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTCACTCGCTG AGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCCCGCCTCACTC GCTGAGCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCTCACT CGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCGCCCCGCC TCACTCGCTGAGCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCC GCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCC CCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCC CCCGCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTCAC TCGCTGAGCCCCCCTGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCC TCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCC CGCCTCACTCGCTGAGCCCCCCCACCCCCCCCCGCCCCGCCTCACTCGCT GAGCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTC ACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCCCC GCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCGCCTCACTCGCTGAGC CCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGA GCTCCCCCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCCCGCCTCACTCG CTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCAC TCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCC TCACTCGCTGAGCCCCCCCACCCCCCCCGCCCCGCCTCACTCGCTGAGCC CCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCCCCCGCCCCG CCTCACTCGCTGAGCCCCCCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	67	0.0149	1070	c.278 others(1087): Show c.278-3260_278-3259insGGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAG CGAGTGAGGCGGGGCGGGGGGGGTGGGGGGGCTCAGCGAGTGAGGCGGGG CGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGC GGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGA GGCGGGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGA GTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGC GAGTGAGGCGGGGCGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGG GGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGG GGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGT GAGGCGGGGCGGGGGGGGGTGGGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGG CGGGGGGGCTCAGCGAGTGAGGCGGGGCAGGGGGGCTCAGCGAGTGAGGC GGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGGCGGGGGGGGCT CAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGA GCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGG GAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGCTCAGCGAGTGAGGCGGGG CGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGG CGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGGCTCAGCGAGTGAG GCGGGGCGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAG TGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAG TGACGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(1063): Show CATATATATATTCCATATATATATATATTCCATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATTCCATATATATATTCCATATATATATTCCATATATATATTCCATA TATATATATATTCCATATATATATTCCATATATATATTCCATATATATAT ATATTCCATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	324	0.0031	1070	c.115 others(1087): Show c.115-2706_115-2705insATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATGGAATATATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1063): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATAAATATATATAAATAT ATATAAATATATAAATATATATAAATATATATAAATATATATAAATATAT AAATATATATAAATATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATAAATATATATATAAATATATATACATATATAA ATATATATAAATATATATACATATATAAATATATAAAAAATATATAAATA TATAAAAAATATATAAATATATAAAAATATATATAAATATATATAAATAT ATATACATATATATACATATATATAAATATATAAAAATATATAAATATAT ATAAATATAAATATATACAAATATATATATAAATATGTATAAATATATAA AAATATATATATAAATATATAAAAATATATATATAAATATATAAAAATAT ATATATTAATATATAAAAATATATATAAATATATATATAAATATATATAT ATAAATATATATAAAAATATATATAAAAATATATATAAATATATATATAA ATATATATAAATATATATAAATATATATAAATATATATAAATATATATAA ATATATATATAAATATATATAAATATATATATAAATATATATAAACATAT ATAAATATATATAAAAATATATATAAATATATATAAATATATATAAATAT ATATAAAAATATATATAAATATATATATAAATATATATAAATATATATAT AAATATATATAAATATATATAAATATATAAAAAATATATATAAATATATA AATATATATATATAAATATATATAAATATATAAAAAAAATATATATAAAT ATATATAAATATATTTATATATATAAATATATTTATATATAAATATAAAT ATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	186	0.0054	1070	c.-50 others(1081): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATATAAATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATACATATATAAATATATATAAATATATATACATATATAAATATATA AAAAATATATAAATATATAAAAAATATATAAATATATAAAAATATATATA AATATATATAAATATATATACATATATATACATATATATAAATATATAAA AATATATAAATATATATAAATATAAATATATACAAATATATATATAAATA TGTATAAATATATAAAAATATATATATAAATATATAAAAATATATATATA AATATATAAAAATATATATATTAATATATAAAAATATATATAAATATATA TATAAATATATATATATAAATATATATAAAAATATATATAAAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAACATATATAAATATATATAAAAATATATATAAATATATATA AATATATATAAATATATATAAAAATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATAAAAAAT ATATATAAATATATAAATATATATATATAAATATATATAAATATATAAAA AAAATATATATAAATATATATAAATATATTTATATATATAAATATATTTA TATATAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1063): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATAAATATATATAAATAT ATATAAATATATAAATATATATAAATATATATAAATATATATAAATATAT AAATATATATAAATATATATATAAATATATATAAATATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATAAATATATATATAAATATATATACATATATAA ATATATATAAATATATATACATATATAAATATATAAAAAATATATAAATA TATAAAAAATATATAAATATATAAAAATATATATAAATATATATACATAT ATATACATATATATACATATATATAAATATATAAAAATATATAAATATAT ATAAATATAAATATATACAAATATATATATAAATATGTATAAATATATAA AAATATATATATAAATATATAAAAATATATATATTAATATATAAAAATAT ATATATTAATATATAAAAATATATATAAATATATATATAAATATATATAT ATAAATATATATAAAAATATATATAAAAATATATATAAATATATATATAA ATATATATAAATATATATAAATATATATAAATATATATAAATATATATAA ATATATATATAAATATATATAAATATATATATAAATATATATAAACATAT ATAAATATATATAAAAATATATATAAATATATATAAATATATATAAATAT ATATAAAAATATATATAAATATATATATAAATATATATAAATATATATAT AAATATATATAAATATATATAAATATATAAAAAATATATATAAATATATA AATATATATATATAAATATATATAAATATATAAAAAAAATATATATAAAT ATATATAAATATATTTATATATATAAATATATTTATATATAAATATAAAT ATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	186	0.0054	1070	c.-50 others(1081): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATATAAATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATACATATATAAATATATATAAATATATATACATATATAAATATATA AAAAATATATAAATATATAAAAAATATATAAATATATAAAAATATATATA AATATATATACATATATATACATATATATACATATATATAAATATATAAA AATATATAAATATATATAAATATAAATATATACAAATATATATATAAATA TGTATAAATATATAAAAATATATATATAAATATATAAAAATATATATATT AATATATAAAAATATATATATTAATATATAAAAATATATATAAATATATA TATAAATATATATATATAAATATATATAAAAATATATATAAAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATATAAA TATATATAAACATATATAAATATATATAAAAATATATATAAATATATATA AATATATATAAATATATATAAAAATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATAAATATATAAAAAAT ATATATAAATATATAAATATATATATATAAATATATATAAATATATAAAA AAAATATATATAAATATATATAAATATATTTATATATATAAATATATTTA TATATAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
TWIST2_chr2_238843085_238915534	238870451	A A	ACACCCCA others(1063): Show ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCATACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACCCCATACACACCACACACCC CACACACACCACACACCACACCCCATACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCATACACACCACACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCATACACACCACACACCCCACACACACCACA CACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCCCACACACACCACACCCCACACACACCACA CCCCATACACACCACACACCCCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCACACACACCACACAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	338	0.0030	1070	c.35 others(1089): Show c.35+21721_*35+21722insCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCATACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCATACACACCACACACCCCACACACACCACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCATACACACCACACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCA CACACCCCACACACACCACACACCCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCCCACACACAC CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCA CACCCCACACACACCACACACCCCACACACACCACACAAACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALDH16A1_chr19_49448225_49476050	49461541	G G	GGCGCCTG others(1064): Show GGCGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGAGCTGGGACCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGAGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGG AGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG CCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTC CTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCT GGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGATTCC TGGGTCTGAGGGAGGAGGGGCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 HG02717.hp1 others(3): Show HG02280.hp1 HG02622.hp2 HG02717.hp1 HG03041.hp1 NA19030.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0003 a0002c0003t0002 a0002c0003t0003	a0002c0003t0002g0053 a0002c0003t0003g0018 a0002c0003t0003g0044 others(2): Show a0002c0003t0002g0053 a0002c0003t0003g0018 a0002c0003t0003g0044 a0002c0003t0003g0052 a0002c0003t0003g0061	6	342	0.0175	1071	c.578 others(1084): Show c.578-77_578-76insCGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTC CTGGGTCTGAGGGAGGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGA GGAGGAGCTGGGACCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGAGCCTGGACTCCTGGGTCTGAGG GAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGACCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGA GGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTGGGGCCCGGATTCCTGGGTCTGAGGGAGGAGGGG CTGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1064): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGAAAGGGAGGAGAAACGGGAATGGAAGGG GAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAGA GGAAGAGGATGAAGGGGAAGGGGGAAAACAGAGGGAGAGGATGAAGGGGA AGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGGAG GGGAGGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCGAA GGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGGAT GGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAAGG GGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGGGAGGGGAAG GGGAGGGGAAGGGTGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAA GGGGGAAGGGGGATGAGGAAGGGGGAAGGGGGATGGGGAAGGGGGATAGG GAAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGGGGGATG GGGAAGGGGGATGGGAAGGGGGATGGGGAAGGGGGGAAGGGGGATGGGGA AGGGGGATGGGGAAGAGGGAAGGTCGATGGGGAAGGGGGATGGGGAAGGG GGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGA AGGTCGATGGGGAAGGGGGATGGGAAGGGGAGGGGAAGGGTGGAAGGGGG ATGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGATGGG GAAGGGGGATGGGGAAGGGGGGCAGGGGGATGGGGAAGGGGGATGGGGAA GGGGGATGGGGAAGAGGAGATGGGGAAGGGGGGATGGGGAAGGGAGATGG GGAAGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGGGGAAGGGGGATGGG GAGGGGGAGGAGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	238	0.0042	1071	c.787 others(1086): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCTCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCATCCCCCTTCCCCATCCCCC TTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCCC CCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCAT CCCCCTTCCACCCTTCCCCTCCCCTTCCACCCTTCCCCTCCCCTTCCCCT CCCCTTCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCC ACCCCATCCCCCTTCCCTATCCCCCTCCCCTCCCCCCTCCCCATCCCCTC CCCCTCCCCCTTCCCCACCCCCATCCCCCTTCCCCATCCCCCTTCGCCTC CCCCTCCCCTCCACCTCCCCATCCCCTCCACCTCCCCCTCCCCTCCACGT CCCCCTCCCCTCCAACCTCCCCCTCCCCTCCAACCTCCCCCTTCCCCTTC ATCCTCTCCCTCTGTTTTCCCCCTTCCCCTTCATCCTCTTCCTCTGTTTT CCCCCTTCTCTTTCCCCTCCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCA TTCCCGTTTCTCCTCCCTTTCCCCTCCCCTTTCCCCTCCCCTTCCCCTCC CCTTTTGCCTCCCATTTCCCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCC CCTTTTTCCTCTCCTTTTTCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ARHGAP18_chr6_129571132_129715177	129619468	G G	GGGGGAGG others(1064): Show GGGGGAGGGGAGGAGGGAGAGGGAAAAAGGAGAGGAAAAAGGGGAGAGAA AAAAGGGGAGGGGAAACGGGAGGGGAAATGGGAGGCAAAAGGGGAGGGGA AGGGGAGGGGAAAGGGGAGGGGGAAAGGGAGGAGAAACGGGAATGGAAGG GGAGGAGAAAGGGGAGGGGAAGGGGAGGGGAAAGAGAAGGGGGAAAACAG AGGAAGAGGATGAAGGGGAAGGGGGGAAAACAGAGGGAGAGGATGAAGGG GAAGGGGGAGGTTGGAGGGGAGGGGGAGGTTGGAGGGGAGGGGGACGTGG AGGGGATGGGGAGGTGGAGGGGATGGGGAGGTGGAGGGGAGGGGGAGGCG AAGGGGGATGGGGAAGGGGGATGGGGGTGGGGAAGGGGGAGGGGGAGGGG ATGGGGAGGGGGGAGGGGAGGGGGATAGGGAAGGGGGATGGGGTGGGGAA GGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAG GGGGAAGGGGGATGAGGAAGGGGGAAGGGGGATGGGGAAGGGGGATAGGG AAGGGGGATGGGGAAGGGGGATAGGGAAGGGGGATGGGGAAGGGGGATGG GGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGGAAGGGGGATGGGGA AGGGGGATGGGGAAGGGGGAAGGTCGATGGGGAAGGGGGATGGGGAAGGG GGATGGGGAAGGGGGGAAGGGGGATGGGGAAGGGGGATGGGGAAGGGGGA AGGTCGATGGGGAAGGGGGATGGGAAGGGGAGGGGAAGGGTGGAAGGGGG ATGGGGAAGGGGAGGGGAAGGGTGGAAGGGGGATGGGGAAGGGGGATGGG GAAGGGGGATGGGGAAGGGGGGCAGGGGGATGGGGAAGGGGGATGGGGAA GGGGGATGGGGAAGAGGAGATGGGGAAGGGGGGATGGGGAAGGGAGATGG GGAAGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGGGGAAGGGGGATGGG GAGGGGGAGGAGGAAGGGGGAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0138 a0001c0001t0003g0138	1	238	0.0042	1071	c.787 others(1086): Show c.787-617_787-616insATCCCCCTTCCTCCTCCCCCTCCCCATCCC CCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTTCCCCATCTCC CTTCCCCATCCCCCCTTCCCCATCTCCTCTTCCCCATCCCCCTTCCCCAT CCCCCTTCCCCATCCCCCTGCCCCCCTTCCCCATCCCCCTTCCCCATCCC CCTTCCCCATCCCCCTTCCACCCTTCCCCTCCCCTTCCCCATCCCCCTTC CACCCTTCCCCTCCCCTTCCCATCCCCCTTCCCCATCGACCTTCCCCCTT CCCCATCCCCCTTCCCCATCCCCCTTCCCCCCTTCCCCATCCCCCTTCCC CATCCCCCTTCCCCATCGACCTTCCCCCTTCCCCATCCCCCTTCCCCATC CCCCTTCCCCCCTTCCCCATCCCCCTTCCCCATCCCCCTTCCCCATCCCC CTTCCCCATCCCCCTTCCCTATCCCCCTTCCCCATCCCCCTTCCCTATCC CCCTTCCCCATCCCCCTTCCCCCTTCCTCATCCCCCTTCCCCCTTCCCCA TCCCCCTTCCACCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTTC CCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCAC CCCATCCCCCTTCCCTATCCCCCTCCCCTCCCCCCTCCCCATCCCCTCCC CCTCCCCCTTCCCCACCCCCATCCCCCTTCCCCATCCCCCTTCGCCTCCC CCTCCCCTCCACCTCCCCATCCCCTCCACCTCCCCATCCCCTCCACGTCC CCCTCCCCTCCAACCTCCCCCTCCCCTCCAACCTCCCCCTTCCCCTTCAT CCTCTCCCTCTGTTTTCCCCCCTTCCCCTTCATCCTCTTCCTCTGTTTTC CCCCTTCTCTTTCCCCTCCCCTTCCCCTCCCCTTTCTCCTCCCCTTCCAT TCCCGTTTCTCCTCCCTTTCCCCCTCCCCTTTCCCCTCCCCTTCCCCTCC CCTTTTGCCTCCCATTTCCCCTCCCGTTTCCCCTCCCCTTTTTTCTCTCC CCTTTTTCCTCTCCTTTTTCCCTCTCCCTCCTCCCCTCCCC	ARHGAP18	ENSG00000146376.11	transcript	ENST00000368149.3	protein_coding	5/14			chr6	TogoVar
ART1_chr11_3640128_3669416	3654114	A A	ATCCTCAC others(1064): Show ATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAC CTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTC TTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCAT CAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACT GCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCT GTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCC ACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAG TCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCC ATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCA CTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCT CTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATT CCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCA AGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTC CCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCT CACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTAC CTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAA TTCCACCTCCTACCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	1	394	0.0025	1071	c.-52 others(1088): Show c.-52-4986_-52-4985insGTCCTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATT CTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGT CCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGT AAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGA CATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCA TTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCT ATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAC CTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTC TTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCAT CAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACT GCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCT GTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCC ACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAG TCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCC ATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654681	A A	ATCCTCAC others(1064): Show ATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAC CTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTC TTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCAT CAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACT GCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCT GTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTTC ACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAG TCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCC ATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCA CTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCT CTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATT CCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCA AGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTC CCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCT CACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTAC CTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAA TTCCACCTCCTACCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0125 a0002c0002t0002g0125	1	394	0.0025	1071	c.-52 others(1088): Show c.-52-4419_-52-4418insGTCCTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATT CTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGT CCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGT AAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGA CATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCA TTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCT GTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTTCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAC CTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTC TTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCAT CAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACT GCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCT GTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCC ACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAG TCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCC ATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(1064): Show AGGGAAGGGAAAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGG AAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGA AGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGG AAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAACCGGGACGG GAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAC CGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGG AAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAACCAG GACAGGAACCGGGACAGGAACCGGGAAGGGAAGGGATGGGAACCGATGGG AACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGA AACCGGGACGGCAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGA GAACCGGGAAGGGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAG AGAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGGAAGGAAGAGGAAGG GGAGGGGAGACCGGGACGGGAACTGGGACGGGAAGGGTAGGGAACCGGGC GGGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGA ACCAGGACAGGAACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAG GGACAGGAATCGGGAAGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAA CCAGGAAAGGAAAGGAAGGGAAGCGGGACGGGAGCCGGGAAGGCAAGAGA AGGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGA ACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGG GCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACC GGCACAGGAAGGAAAGGGAACC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01978.hp2 HG00408.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0062 a0001c0002t0001g0001 a0001c0002t0001g0062	2	326	0.0061	1071	c.327 others(1088): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTCCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCC TCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCC TTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCC CTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTC CCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATC GGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTC CCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCC TTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCC CGGTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTC CCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTT CCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTC CCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTTTCCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(1064): Show AGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAAAGGGAAGGGAAGGG AAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGA AAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGG AAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGG GAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAA AGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGG ACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAACCAGGACAGGAACCGGGAAGGGAAGGGATGGGAACCGATGGG AACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGA AACCGGGACGGCAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGA GAACCGGGAAGGGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAG AGAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGGAAGGAAGAGGAAGG GGAGGGGAGACCGGGACGGGAACTGGGACGGGAAGGGTAGGGAACCGGGC GGGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGA ACCAGGACAGGAACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAG GGACAGGAATCGGGAAGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAA CCAGGAAAGGAAAGGAAGGGAAGCGGGACGGGAGCCGGGAAGGCAAGAGA AGGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGA ACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGG GCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACC GGCACAGGAAGGAAAGGGAACC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	326	0.0031	1071	c.327 others(1088): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTCCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCC TCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCC TTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCC CTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTC CCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATC GGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCTGGTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGT TCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCC GTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCC CTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTC CCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTT CCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTC CCTTCCCTTTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(1064): Show AGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAAAGGGAAGGGAAGGG AAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGA AAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGG AAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAACCGGGACGG GAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAC CGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGG AAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAACCAG GACAGGAACCGGGACAGGAACCGGGAAGGGAAGGGATGGGAACCGATGGG AACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGA AACCGGGACGGCAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGA GAACCGGGAAGGGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAG AGAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGGAAGGAAGAGGAAGG GGAGGGGAGACCGGGACGGGAACTGGGACGGGAAGGGTAGGGAACCGGGC GGGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGA ACCAGGATAGGAACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAG GGACAGGAATCGGGAAGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAA CCAGGAAAGGAAAGGAAGGGAAGCGGGACGGGAGCCGGGAAGGCAAGAGA AGGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGA ACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGG GCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACC GGCACAGGAAGGAAAGGGAACC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02647.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0008 a0001c0002t0005g0009 a0001c0002t0005g0008 a0001c0002t0005g0009	2	326	0.0061	1071	c.327 others(1088): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTCCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTATCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCC TCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCC TTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCC CTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTC CCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATC GGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTC CCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCC TTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCC CGGTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTC CCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTT CCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTC CCTTCCCTTTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
C10orf67_chr10_23197696_23349797	23331548	A A	AGGGAAGG others(1064): Show AGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGG AAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGG GAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAGGGAAAAGGGAAGGG AAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGGGAAGGGAAAAGGGAAGG GAAGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAG GGAACCGGGACGGGAAAAGGGAAGGGAAGGGAACCGGGACGGGAAAAGGG AAGGGAAGGGAACCGGGACGGGAAAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAACCAG GACAGGAACCGGGACAGGAACCGGGAAGGGAAGGGATGGGAACCGATGGG AACCGGGATGGCAACCAGGAAGGGAAGGGACCGGGACGGGAAGGGAAGGA AACCGGGACGGCAACAGAGACAGGAACCGGGAAGGGAAAAGAAGGGAAGA GAACCGGGAAGGGAAGGGAACCGGGACAGGAACCGGGAAGGGAAGGGAAG AGAACAGGGAAGGGAGGGTAGGGGAGGGAAACCGGGAAGGAAGAGGAAGG GGAGGGGAGACCGGGACGGGAACTGGGACGGGAAGGGTAGGGAACCGGGC GGGAACCGGGACGGGAGGGGAAGGGAATGGGGACGAGAAACGGGACGGGA ACCAGGACAGGAACCAGAACGGAAACAGGGAAGGGAAGGGAAGGGAACAG GGACAGGAATCGGGAAGGGAACCGGGACAGGAACCGGAAAGGGAAGGGAA CCAGGAAAGGAAAGGAAGGGAAGCGGGACGGGAGCCGGGAAGGCAAGAGA AGGGAACCGGGAAGAGTAAGGAGGAAAACCGGGACGGGAACAGGACGGGA ACCGGGAAGGGCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGG GCAGGGAACCGGGACAGGAACAGGACGGGAACCGGGAAGGGCAGGGAACC GGCACAGGAAGGAAAGGGAACC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	326	0.0031	1071	c.327 others(1088): Show c.327+1513_327+1514insGGTTCCCTTTCCTTCCTGTGCCGGTTCC CTGCCCTTCCCGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCC CGGTTCCCGTCCTGTTCCTGTCCCGGTTCCCTGCCCTTCCCGGTTCCCGT CCTGTTCCCGTCCCGGTTTTCCTCCTTACTCTTCCCGGTTCCCTTCTCTT GCCTTCCCGGCTCCCGTCCCGCTTCCCTTCCTTTCCTTTCCTGGTTCCCT TCCCTTTCCGGTTCCTGTCCCGGTTCCCTTCCCGATTCCTGTCCCTGTTC CCTTCCCTTCCCTTCCCTGTTTCCGTTCTGGTTCCTGTCCTGGTTCCCGT CCCGTTTCTCGTCCCCATTCCCTTCCCCTCCCGTCCCGGTTCCCGCCCGG TTCCCTACCCTTCCCGTCCCAGTTCCCGTCCCGGTCTCCCCTCCCCTTCC TCTTCCTTCCCGGTTTCCCTCCCCTACCCTCCCTTCCCTGTTCTCTTCCC TTCCCTTCCCGGTTCCTGTCCCGGTTCCCTTCCCTTCCCGGTTCTCTTCC CTTCTTTTCCCTTCCCGGTTCCTGTCTCTGTTGCCGTCCCGGTTTCCTTC CCTTCCCGTCCCGGTCCCTTCCCTTCCTGGTTGCCATCCCGGTTCCCATC GGTTCCCATCCCTTCCCTTCCCGGTTCCTGTCCCGGTTCCTGTCCTGGTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTT TCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCGTCCCGGTTCCCTTCCC TTCCCTTTTCCCGTCCCGGTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCC CTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCCTTC CCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTT CCCTTCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTCCCTTTTCCCTTT TCCCTTCCCTTCCCTTTTCCCTTCCCTTCCCTTTTCCCTTCCC	C10orf67	ENSG00000179133.15	transcript	ENST00000636213.3	protein_coding	2/15			chr10	TogoVar
CEP72_chr5_607340_658553	650785	T T	TGTGACTG others(1064): Show TGTGACTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGAGGTGTGACTG TGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGG ACTGTGAGGTGTGACTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGG GTGACTGTGAGGTGTGACTGTGAGGTGTGACCACGAGGCATGGACTGTGA GATGGGACTGTGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATCAA CCCTGAGTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGT GAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGGC TGTGAGGTGTGAATGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTG ACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGT GTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTG AGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGGA CTGTGAGGCGTGACTGTGAGGTGTGACTGTGAGGTGTGCCTGTGAGGCGT GGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGA CTGTGAGGTGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCG TGACTGTGAGGTGTGGACTGTGAGGTGGGACTGTGAGGTGTGACTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTG AGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGAGGCGTGGAGTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGCGTGACTGTGAGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02109.hp1 HG02109.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0013	3	91	0.0330	1071	c.177 others(1090): Show c.1779-2196_1779-2195insGGTGTGAGGTGTGACTGTGAGGCGTG GACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTG TGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGGGTGACTGTGAG GCGTGGACTGTGAGGGGTGACTGTGAGGTGTGACTGTGAGGTGTGACCAC GAGGCATGGACTGTGAGATGGGACTGTGAGGTATGTGACCATGGGGTGTG GGCTGTGAGGTATCAACCCTGAGTGTGAGGTGTGACTGTGAGGTGTGACT GTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTG ACTGTGAGGTGTGGGCTGTGAGGTGTGAATGTGAGGCGTGACTGTGAGGC GTGACTGTGAGGCGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGA GGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACT GTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGT GACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGTGTGACTGTGAGG TGTGCCTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTG TGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGCGTGACTGTGAG GCGTGACTGTGAGGCGTGACTGTGAGGTGTGGACTGTGAGGTGGGACTGT GAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGTGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGA CTGAGGCGTGGAGTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650785	T T	TGTGACTG others(1064): Show TGTGACTGGGTGTGAGGTGTGACTGTGAGGCGTGGACTGAGGTGTGACTG TGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGG ACTGTGAGGTGTGACTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGG GTGACTGTGAGGTGTGACTGTGAGGTGTGACCACGAGGCATGGACTGTGA GATGGGACTGTGAGGTATGTGACCATGGGGTGTGGGCTGTGAGGTATCAA CCCTGAGTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGT GAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGGC TGTGAGGTGTGAATGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTG ACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGT GTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTG AGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCGTGGA CTGTGAGGCGTGACTGTGAGGTGTGACTGTGAGGTGTGCCTGTGAGGCGT GGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGA CTGTGAGGTGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTGTGAGGCG TGACTGTGAGGTGTGGACTGTGAGGTGGGACTGTGAGGTGTGACTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTG AGGTGTGACTGTGAGGCGTGACTGTGAGGCGTGACTGAGGCGTGGAGTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGCGTGACTGTGAGGC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	91	0.0110	1071	c.177 others(1090): Show c.1779-2196_1779-2195insGGTGTGAGGTGTGACTGTGAGGCGTG GACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTG TGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGGGTGACTGTGAG GCGTGGACTGTGAGGGGTGACTGTGAGGTGTGACTGTGAGGTGTGACCAC GAGGCATGGACTGTGAGATGGGACTGTGAGGTATGTGACCATGGGGTGTG GGCTGTGAGGTATCAACCCTGAGTGTGAGGTGTGACTGTGAGGTGTGACT GTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTG ACTGTGAGGTGTGGGCTGTGAGGTGTGAATGTGAGGCGTGACTGTGAGGC GTGACTGTGAGGCGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGA GGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTGGACT GTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGTGTGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGCGTGACTGAGGCGTGACTGTGAGGCGT GACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGTGTGACTGTGAGG TGTGCCTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTG TGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAGGCGTGACTGTGAG GCGTGACTGTGAGGCGTGACTGTGAGGTGTGGACTGTGAGGTGGGACTGT GAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGTGTGGACTGTGAGGTGTGACTGTGAGGCGTGACTGTGAGGCGTGA CTGAGGCGTGGAGTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGCGTGACTGTGAGGCGTGACTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP74_chr1_1916957_2008786	1929384	G G	GGAGGGGA others(1064): Show GGAGGGGACAGGTCTGGGGAGGCAGGAGAGAGGGTGAGGGGAGGCAGGGG AGATGGTGAGGGGAGGGAGGGAGGGGAGAGGGTGGGGGAGGGAGGGGAGA GGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGAGG GGAGAAGGGAGGGGACGCAGGGAGGGGAGAGGAAAGAGGAGGGAGGGGAG AGGGGAGGGAGGGGAGCGGGTAGGGGAGGGAAGGAGGGGAAATGGTATGG GAGGGAGGGAGGGGAGAGGGTAGGGGAGAGAGGGAGCAGAGGGGAAAGGG TAGGGGAGGGAAGGAAGGGAGAGGGTAGGGGAGGTAGGGAGGGAGGGGAG AGGGTAGGGGAGGGGAGAGGGTAGGGGAGGGAAGGAGGGGAGACGGTAGA GGAGGGAGGAGGGGAGAGGGTAGGGGAGGGAGGAAGAGGAGGGGAGAGGG TAGGGAGGGAGGGAGAGGAGAGGGGAGGGAGGGGAGGAGGGGAGAGGGTA GGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAGGG GAGGGAGGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGAG GGGAGGGAGGGAGGGGAGGAGGGGAGGAGGGAGAGGAGAGGGGAGGGAGG GAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGGGGAGAGGGT AGGGGAGGGAAGGAGGAGAGAGGGTAGAGGAGGGAGGAGGGGAGAGGGGA GGGGAGGGAGGAAGAGGAGGGGAGAGGGTAGGGAGGGAGAGGAGAGGGGA GGGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGGAGGAGGGAGG GAGGGGAGGAGGGGAGAGGGTAGGGAGGAGGGAGAGGAGAGGGGAGGGAG GGAGGGGAGGAGGGGAGAGGGTAGGGAGGGAGGGAGAGAGGAGGGAGGGA GGGCAGGAGGGGAGAGGGTAGGGAGGGAGGGCAGGAGGGGAGAGGGTAGG GAGGGAGGGGAGGAAGGGAGAGGGTAGGGAGGGGAGGAGGGGAGAGGGTA GGGAGGGAGGGAGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	278	0.0036	1071	c.328 others(1088): Show c.3289-503_3289-502insTCCCCTCCTCTCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTACCCTCTCCCTTCCTCCCCTCCCTCCCTACC CTCTCCCCTCCTGCCCTCCCTCCCTACCCTCTCCCCTCCTGCCCTCCCTC CCTCCTCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCT CCCCTCTCCTCTCCCTCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCC TCCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCCT CTCCTCTCCCTCCCTACCCTCTCCCCTCCTCTTCCTCCCTCCCCTCCCCT CTCCCCTCCTCCCTCCTCTACCCTCTCTCCTCCTTCCCTCCCCTACCCTC TCCCCTCCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCC TCCCCTCTCCTCTCCCTCCTCCCCTCCTCCCCTCCCTCCCTCCCCTCTCC TCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTCCCCTCT CCTCTCCCTCCCTCCCTACCCTCTCCCCTCCTCCCCTCCCTCCCTACCCT CTCCCCTCCTCCCCTCCCTCCCCTCTCCTCTCCCTCCCTCCCTACCCTCT CCCCTCCTCTTCCTCCCTCCCCTACCCTCTCCCCTCCTCCCTCCTCTACC GTCTCCCCTCCTTCCCTCCCCTACCCTCTCCCCTCCCCTACCCTCTCCCC TCCCTCCCTACCTCCCCTACCCTCTCCCTTCCTTCCCTCCCCTACCCTTT CCCCTCTGCTCCCTCTCTCCCCTACCCTCTCCCCTCCCTCCCTCCCATAC CATTTCCCCTCCTTCCCTCCCCTACCCGCTCCCCTCCCTCCCCTCTCCCC TCCCTCCTCTTTCCTCTCCCCTCCCTGCGTCCCCTCCCTTCTCCCCTCCT CTCCCTCCCTACCCTCTCCCCTCCTCTTCCTCCCTCCCCTACCCTCTCCC CTCCCTCCCCCACCCTCTCCCCTCCCTCCCTCCCCTCACCATCTCCCCTG CCTCCCCTCACCCTCTCTCCTGCCTCCCCAGACCTGTCCCCTC	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	26/38			chr1	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1064): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGT TTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGG AGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGA GTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAG ATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGC GGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCA GTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAAT ATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG00735.hp2 others(33): Show HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02129.hp2 HG02559.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03492.hp1 HG03540.hp1 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18967.hp2 NA18986.hp2 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19043.hp1 NA19068.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0018 a0001c0023 a0001c0024 a0001c0032 a0001c0056 a0002c0013 a0002c0017 a0003c0020 a0009c0054	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(26): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0027 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0005t0022 a0001c0006t0007 a0001c0006t0010 a0001c0008t0001 a0001c0011t0003 a0001c0012t0051 a0001c0018t0008 a0001c0023t0002 a0001c0024t0017 a0001c0032t0010 a0001c0056t0001 a0002c0013t0003 a0002c0017t0003 a0003c0020t0001 a0009c0054t0002	a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0116 others(33): Show a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0116 a0001c0001t0004g0102 a0001c0001t0007g0215 a0001c0001t0027g0210 a0001c0002t0001g0115 a0001c0002t0001g0209 a0001c0002t0003g0083 a0001c0002t0005g0060 a0001c0002t0013g0140 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0002g0142 a0001c0003t0002g0246 a0001c0003t0004g0266 a0001c0003t0016g0099 a0001c0004t0001g0225 a0001c0004t0002g0172 a0001c0005t0022g0085 a0001c0006t0007g0103 a0001c0006t0010g0031 a0001c0008t0001g0087 a0001c0008t0001g0114 a0001c0011t0003g0143 a0001c0012t0051g0086 a0001c0018t0008g0179 a0001c0023t0002g0113 a0001c0024t0017g0180 a0001c0032t0010g0238 a0001c0056t0001g0084 a0002c0013t0003g0061 a0002c0017t0003g0223 a0003c0020t0001g0120 a0003c0020t0001g0121 a0009c0054t0002g0141	36	272	0.1324	1071	c.109 others(1090): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGG CCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTA TAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGG TGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGG TGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGA TAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGG GGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAG TTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1064): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGT TTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGA GTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAG ATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGC GGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCA GTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAAT ATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0195 a0001c0007t0001g0195	1	272	0.0037	1071	c.109 others(1090): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGG CCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTA TAGATAATATGGGGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGG TGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGG TGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGA TAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGG GGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAG TTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1064): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCG GGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGT TTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGG AGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGA GTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAG ATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGC GGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCA GTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAAT ATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18970.hp1 NA19004.hp1 others(1): Show NA18612.hp1 NA18970.hp1 NA19004.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0002t0003 a0001c0002t0055 others(1): Show a0001c0001t0005 a0001c0002t0003 a0001c0002t0055 a0001c0003t0001	a0001c0001t0005g0155 a0001c0002t0003g0154 a0001c0002t0055g0152 others(1): Show a0001c0001t0005g0155 a0001c0002t0003g0154 a0001c0002t0055g0152 a0001c0003t0001g0153	4	272	0.0147	1071	c.109 others(1090): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGAT AATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGG CCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTA TAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGG TGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGG TGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGA TAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGG GGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAG TTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRTC3_chr15_90524923_90650345	90647303	A A	ACCCCTAC others(1064): Show ACCCCTACTCCTCCTCACCCATCCTCCTCCACACCCCTTCTAGTCCACCA CTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACTCTTACCCCT CCACACCCCTCCTCTTCCACCAGACCCCTCCTCCACACCCCTCCCCCCAC CTCACTTCTCCCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCT CCACATCCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCT CCTCCACACCCCTCCTCCTCCACACCCATCATCCTCCACGCCCCTTCTCC TCACTCCTCCTCCTCCTGCACACCCCTTCTCCTCCTCACCCTTTGTCCTA CTCCACACCACTCCTCTGCCTCACCTCTTCTCTTCACCCCTTCTCCTCCT CCATACCCCTCCTTCTCAACTCTCCTCCTCCACACTCCTCCTCACCCCGT CCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCTCCTCCACACCCCTCC TCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCCTCACCCCTCCTCCTC CACACCCCTCATCCTCCTCCACACCCCTCCTCCGCCTCACCCCTCCTCCT CACCCCTTCTCCTCTCCACATCCCTCCTGCTCCACATCCCTCCTGCTTCA CACCCCTCCCCCTCCTCCTTCACACCCCTCATCCTCCACACTCCTCCCCT CCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCCCC TCACCTCTCCTCCTCCACACTCACTCCTCCACACCCCTCCTCCTCACCCC TCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACCTCTCC CCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACATCCCTA CCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCTCCTCA ACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCCCTCTC CCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTC CTCCTCCTCCACACCCCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	276	0.0036	1071	c.51 others(1082): Show c.5163_*5164insCCCCTACTCCTCCTCACCCATCCTCCTCCACACC CCTTCTAGTCCACCACTCCCCCCTCCTCCTCCACACCCCTCCTCCTCCTC CACACTCTTACCCCTCCACACCCCTCCTCTTCCACCAGACCCCTCCTCCA CACCCCTCCCCCCACCTCACTTCTCCCCCTTCACACACCTCCTCAACCTT CACATCCCTCCCCCTCCACATCCCTTCCCCCTCCTCACCCCTCTCCCCTC ATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCATCATCCT CCACGCCCCTTCTCCTCACTCCTCCTCCTCCTGCACACCCCTTCTCCTCC TCACCCTTTGTCCTACTCCACACCACTCCTCTGCCTCACCTCTTCTCTTC ACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACTCTCCTCCTCCACAC TCCTCCTCACCCCGTCCTCCTCCAAACCCTTCCCCCTCCTCTTGGTTCCT CCTCCACACCCCTCCTCCTCCACACCCCTCCTCTGCCTCATGCCTCTTCC TCACCCCTCCTCCTCCACACCCCTCATCCTCCTCCACACCCCTCCTCCGC CTCACCCCTCCTCCTCACCCCTTCTCCTCTCCACATCCCTCCTGCTCCAC ATCCCTCCTGCTTCACACCCCTCCCCCTCCTCCTTCACACCCCTCATCCT CCACACTCCTCCCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCT CCACACCCCTCCCCCTCACCTCTCCTCCTCCACACTCACTCCTCCACACC CCTCCTCCTCACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCC GCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCC TCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCT TCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCC CTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCC TCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1959		chr15	TogoVar
DGKB_chr7_14140049_14907751	14471354	G G	GTATATAT others(1064): Show GTATATATGTGTATACATACATATATGTATGTATATATGTGTATACATAC ATATATGTATGTATATATACATATATGTGTGTATATATGTGTATACATAC ATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATATGT GTATATATGTGTATACACACATATGTGTGTATATATGTGTATACACACAT ATGTGTGTATATGTGTGTATACACACATATGTGTGTATATGTGTGTATAT ATGTGTATACACACATATGTGTGTGTATATATGTGTATACACACATATGT GTGTGTATATATGTGTATACACACATATGTGTGTGTATATATGTGTATAC ACACATATGCGTGTGTGTATATGTGTGTATACACACATATGCGTGTGTGT ATATGTGTGTATACACACATATGCGTGTGTGTATATGTGTGTATACACAC ATATGCGTGTGTGTATATGTGTGTATACACACATATGCGTGTGTGTATAT GTGTGTATACACACATATGCGTGTGTATATGTGTGTATACACACATATGC GTGTGTATATGTGTGTATATACACATATATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATAT GTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGT GTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATAT GCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATAT ACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTATATATGTGT GTATATACATATGTGTGTATATATGTGTGTATATACATATATATGAGTGT ATATATGTGTATATATACATATATATGCGTGTATATATACGTATATATGC ATGTATATATGTGTATACATACATATATGCATGTATATATGTGTATACAT ACATATATGCATGTATATATGTGTATTCATACATATATGCATGTATATAT GTGTATTCATACATATATGCAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0130 a0001c0003t0005g0130	1	148	0.0068	1071	c.183 others(1090): Show c.1835+6806_1835+6807insATGCATATATGTATGAATACACATAT ATACATGCATATATGTATGAATACACATATATACATGCATATATGTATGT ATACACATATATACATGCATATATGTATGTATACACATATATACATGCAT ATATACGTATATATACACGCATATATATGTATATATACACATATATACAC TCATATATATGTATATACACACATATATACACACATATGTATATACACAC ATATATACACGCATATGTATATACACACATATACACACGCATATGTATAT ACACACATATACACACGCATATGTATATACACACATATACACACGCATAT GTATATACACACATATACACACGCATATGTATATACACACATATACACAC GCATATGTATATACACACATATACACACGCATATGTATATACACACATAT ACACACGCATATGTATATACACACATATACACACGCATATGTATATACAC ACATATACACACGCATATATATGTGTATATACACACATATACACACGCAT ATGTGTGTATACACACATATACACACGCATATGTGTGTATACACACATAT ACACACACGCATATGTGTGTATACACACATATACACACACGCATATGTGT GTATACACACATATACACACACGCATATGTGTGTATACACACATATACAC ACACGCATATGTGTGTATACACACATATACACACACGCATATGTGTGTAT ACACATATATACACACACATATGTGTGTATACACATATATACACACACAT ATGTGTGTATACACATATATACACACACATATGTGTGTATACACATATAT ACACACATATACACACATATGTGTGTATACACACATATACACACATATGT GTGTATACACATATATACACACATATGTGTGTATACACATATATACACAT ATATACACACATATATGTATGTATACACATATATACACACATATATGTAT GTATACACATATATACACACATATATGTATATATACATACATATATGTAT GTATACACATATATACATACATATATGTATGTATACACATATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14471354	G G	GTATATAT others(1064): Show GTATATATGTGTATACATACATATATGTATGTATATATGTGTATACATAC ATATATGTATGTATATATACATATATGTGTGTATATATGTGTATACATAC ATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATATGT GTATATATGTGTATACACACATATGTGTGTATATATGTGTATACACACAT ATGTGTGTATATGTGTGTATACACACATATGTGTGTATATGTGTGTATAT ATGTGTATACACACATATGTGTGTGTATATATGTGTATACACACATATGT GTGTGTATATATGTGTATACACACATATGTGTGTGTATATATGTGTATAC ACACATATGCGTGTGTGTATATGTGTGTATACACACATATGCGTGTGTGT ATATGTGTGTATACACACATATGCGTGTGTGTATATGTGTGTATACACAC ATATGCGTGTGTGTATATGTGTGTATACACACATATGCGTGTGTGTATAT GTGTGTATACACACATATGCGTGTGTATATGTGTGTATACACACATATGC GTGTGTATATGTGTGTATATACACATATATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATAT GTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGT GTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATAT GCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATAT ACATATGCGTGTGTATATGTGTGTATATACATATGTGTGTATATATGTGT GTATATACATATGTGTGTATATATGTGTGTATATACATATATATGAGTGT ATATATGTGTATATATACATATATATGCGTGTATATATACGTATATATGC ATGTATATATGTGTATACATACATATATGCATGTATATATGTGTATACAT ACATATATGCATGTATATATGTGTATTCATACATATATGCATGTATATAT GTGTATTCATACATATATGCAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0062 a0002c0005t0011g0062	1	148	0.0068	1071	c.183 others(1090): Show c.1835+6806_1835+6807insATGCATATATGTATGAATACACATAT ATACATGCATATATGTATGAATACACATATATACATGCATATATGTATGT ATACACATATATACATGCATATATGTATGTATACACATATATACATGCAT ATATACGTATATATACACGCATATATATGTATATATACACATATATACAC TCATATATATGTATATACACACATATATACACACATATGTATATACACAC ATATATACACACATATGTATATACACACATATACACACGCATATGTATAT ACACACATATACACACGCATATGTATATACACACATATACACACGCATAT GTATATACACACATATACACACGCATATGTATATACACACATATACACAC GCATATGTATATACACACATATACACACGCATATGTATATACACACATAT ACACACGCATATGTATATACACACATATACACACGCATATGTATATACAC ACATATACACACGCATATATATGTGTATATACACACATATACACACGCAT ATGTGTGTATACACACATATACACACGCATATGTGTGTATACACACATAT ACACACACGCATATGTGTGTATACACACATATACACACACGCATATGTGT GTATACACACATATACACACACGCATATGTGTGTATACACACATATACAC ACACGCATATGTGTGTATACACACATATACACACACGCATATGTGTGTAT ACACATATATACACACACATATGTGTGTATACACATATATACACACACAT ATGTGTGTATACACATATATACACACACATATGTGTGTATACACATATAT ACACACATATACACACATATGTGTGTATACACACATATACACACATATGT GTGTATACACATATATACACACATATGTGTGTATACACATATATACACAT ATATACACACATATATGTATGTATACACATATATACACACATATATGTAT GTATACACATATATACACACATATATGTATATATACATACATATATGTAT GTATACACATATATACATACATATATGTATGTATACACATATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar

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Search Results (Total: 10000 hits)