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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CIDEC_chr3_9861714_9885253	9879423	TGGCCTCC others(5823): Show TGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCACTGCACCTGGCAC AGGAGCTGTATTTTTTACTTTATTGAATTTTAACTAATTTAAATTTAAAT AGCCACATTGCCATGTGGCTGTTGGCACCCATATTAGATCACAGGTCTAA GCAGATAGCCCTGGGCTCATCTGTCACCACTTTTTCTCCTAAACCTCTGT GCTCCAACTCTTGAAGGGCCCAACCCTTTGCACAGATAGTTCCCTCCACC TGTAGTGCCCTTCTCTGATCCAGGACGAAATTTTTGCAGCCTTGAAGCCT CAGTTTCATTGCTTTCCACTCTTTAAAAGGAAAGTCTTCTTAGACCACTC CCAAAATTATTACACCTTCATCCTGCTCTTCCTAGCCAAGGGTGCCTCTG GGTCTGTTTCTGCTGTAGCCCCTCAGTCCCTGGATGCCTGGCCCTGAGGT CCTCTTCCTATTCGAAGCTCCCGGCACAGGTAGGGCTTCGCAGAGCAAGG GGCACAAGGGGTGGACATAAAACAAAAGTCCCCTTGCCAGCTGGGGACAA TCACTCTTTGCTTTTAACAATTTGGGGGACTTTCCAGACCAGGCCCCACA GAGGCAGAAAGCCCCTTTCCCACTTAGCACTGCAGAAGCTCTAGTCCTAG CTACGTGGGAGGCTGAGGCAGGAGGATTCTGCTTGCCTCAGCCTCACCCA CTTCGTATCCCTAGCAAAACTCTGCCAAGAGCTACCTAACCTGCTCTCCA GGAGCAAAGAAAAAAAAATCCCCAAACCCAAAACAATAACAAACTCCTTA CCTCCCCCTCACAGCCTCCTGGAAATACTGCCCTGTCCCGCCCAGCCCTC CCTTCATTTATTTCCAGCCCCCATGAAGCTCCTCCCCAGCCTTCAGCCCC AGCTGGGGAAAAGAGCTTGGGGTGAGAGCTGCAAGCCAGCCTGACTTCCA GAAAAGGCCTAAAAGGAGGGGAGAAGGCATGTTTCGAAAGCTTTGGCAAA ATGGATGGCCCATGACATGAGATCAAGCACAGAGGGCACAGAAAGCAGGC AGATGTGGGTTGTGGTCCCAACTCCACCCCATATCAGCTTGCTTGAGCTT AGACAGATCACTTGACTTCTGTGAGCCCGTTTCTCTTCTCTGTGTAATGA CGATAATGATTCTTGTTTTATAGGGTAGTGGTGAGGATTAGTGACAATAA AAGTAAAGGGGCACAGTGGCTCATGCCTATAATCCCAGTGTTTTGGGAGG CTGAGGCGGGAGGATTGCTTGAGGACAGGGGTTGGAGGACAGCCTGGGCA ATAGAGTGAGACCCTGTCTCTGAAAAAAAAAAAAAAAAAGAAAAGAAAAG AAAAAAGAAAAAAGTAGCCTGGGTGCCGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGAGA CCAGCATGGCCAACATGGTGAAGCCCCGTCTCTACTAAAAATAGAAAAAT GAGCCAGGCGTGGTGGTGTGTGCCTGTAATCCCAGCTATCTGGGAGGCTG AGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGAGGTTGCGGTGAGCTTAG ATCACACCACTGCACTCCATTCTGGGTGACAGAGTGAGACCCTGTCTCAA AAAAAAAAAAAAAAAAAAAAAAGTCCGGGCACGGTGGCTCACACCTCTAA TCCCAGAACTTTGGGAGGCCGAGGTGGGCAGATCACAAGGTCAAGAGTTC GAGACCAGCTTGGTCAATATGGCGAAAACCCCATCTCTACTAAATATACA AAAATTAGCCGTGCGTGGTGGTGGGTGCCTGAAATCCCAGCTACTCAGGA GGCTGAGGCAGGAGAATCATTTGAACCCGGGAGGCAGAGGTTGCAGTGAG CCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGT CTCAAAAAAATAAAAATAAATAAAAATAAAGGCTTTGCAAACATAAACAC TCAATGGATCGAAGTGATTATTAGTATTACTGATAATTTTTTATTTTTAT TTTATTATTTTTAATTTTTTTGTCTTTTTCTCAATTTGATAATGTACATA TTAAATCATAGCAGAGAGTAAGACAAGCTGAAATGTGGAGTGGTTAAGAG TGTAAGATCTCTGACCCAGCAGTTCCACTTCTGTGTGTGTGCGTGTGGTG TATGTGTGTCATACAGAGCACACCTGTTGTCCCAGCTGCTCAGAAGGAGG CTGATGCAGGAGGATCACTTGAGCCCAGGAATTAAAATTTAGCCTGAGTA ACATAGGGAGACCCTGTCTTTACAAAAGAAAAGAAACAAAACCAAAACCA AACAAAATTACATATATATGTGTATATATATACACACACACATATATATA TACACATACATATCCAAAAGAAATGAAAAATATGTCTACACAAAAACTTG TATGTGAATATCCATAGGATTATTCGTAATAGCCAAAAGGTAGAAACACA TGAATGTTCAATTTATAAATCGATTTTTTAAATGTGCCTATCCATACATG GCATATTATTTATCAAAAAGGATCCATACTACCACATGGAGGAACCTTGC AAACAGTACAGAAAGTAGACAAAGCCAGTCACAGGAATCATATACATATT GTATGATTCCACTTATATGAAATGTCTAGAATAGGCAAATCTATATAAAG ACAAAGTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTG GGAGGCTGAGGTGGGCGGATCACGAGGTCAGAAGATCGAGACCATCCTGG CTAACACGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACC ACTACACTCCAGCCTTGGGCGACAGAGCGAGACTCCGCCTCCAAAAAAAA AAAAAAAAAAAAAAAGACAAAATGGGTTAGTGGTTGCTTCGGGCTGGGAG TAGGGGATGGGAGGGGAATGGGGAGTGGCTGCTAATTAGTACAGGGTTTC TTTCAGGGTTTTCTTTTCTTTTTTTTTTTTTTCTTTTCTTTTTGAAACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCCGCTCA CTGCAAGCTCCGCCCCCCAGGTTCCCGCCATTCTCCTGCCTCAGCCTCTA GAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGACCCACCCGGCTGGGCATCCCAAAGTTCTAGGATTAC AGGCAGGAGCCACCGCACCCAGCCTTTTCTTTTTCTTTTCTTTCTTTTTT TTTTTTTTGAGACAGAGCATTGCTCTGTCACTCAGGCTGGAGTGCAGTGG CACGATCTCGCCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTTTC CTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGTGCCTGCCACCACGCC TGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTTGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTCTTCTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTATG TCACCACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTTACAGCAACCT CTACCTCCCACAGGCGTGTGCCACCACACCTAGCTAATTTTTGTATTTTT AGTGACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGATTACAGGCGCCTGCCACCACACCCGGCTATTTTTTGTAT TTTTTAGTAGAGACGGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAAC TCCTGACCTCAAGTGATCTGCCCGCCTCTGCCTCCCAAAGTGCTGGGATT ACAGGCATGAACTACCACGCCCGGCCAGGTTTCCTTTTTTTTTTTTTTTT TTTTTACCTATTAATTACAAATTATTTCAGTGATGTTTGCACAACCCTGT AAATATACTAAAAATCATTGACTTGTACACTTGAGTGGGTGATGTGAATT CTATCTCAATAAAGCTGTGTTTTTTAAAAAAACATTTAACCTCATCTTTC TTTTAACACAGGGTTTTTCACACTTTGGTACATCAGAATCAGCTGGCGGG TTTGTTAAAATTCAGATTGCTAGGCCCCACCCCAGAATTTCTCACTTAGT AAGTCTGGGGTGGTGCCTAGGAATTTGCGTTACTAAAGGTTCCCAGATGA TTCAGAAGCCATGGCTGCTCAGGGAGCCCACTTTGAGAACCAGTGGTCTA GCGCTAGCTGTGTGAGCTAAATTTTCTAAGCTTCAGTTTGATCCAACAAC TGGGGATAAAAATAGCTCTACTGCATCTGGTTTCCATGCAGATTAAAAGA GATAATCGTGAAATGTACTTGCTACAGAGTCTAGTGCATCCTTAGAGCTC AATAAATGGAAATTATTATTATTTAGATCTAAATCCTTCCCTGGAGGGGC TCTCAGGCAACCATTCATTCATTCATTCAGGAAATATTTATTAAGCACTT ACTATATGCCAGTCCTTCTGGGGCTAAGAATACAACAGGAAACAAGACAG CCTTGTCCCACACTTCAAGGAGCTGACATTCCTGAGGAAGGTGGGAACTC AGACCATGAATAAATATGCAAATAAACAAAATAATTTCAGATAATGATGT TCTGGGAAGAAAACAAAACGAGGTGATATAATAACAGCTGGAGAGTTAGA TTGGCCTATGCGTTCAAGAAACGCCTCCAAGGAGGTGAGCTTTGAGGTAA ATCCTGACTAAATCCTGGGGGATGATCAAGACAAAGGAAACATCATTGCA AAGGATTTGAGAAGGGAGCATGAAGAGAGAGTGAGGAGACAGGAACACAT ATAACTTAAACTTAAGGACAGACCAAGAGCCAGGAGAAAGGTACAAGCAA AACCCTTTAGGGAAGAGGTTCTGGAGAAAGAGTCGGGGCCCCTCCCTTCA ACAGTCATGGCTCAAATATTTATTGCTCTACTGTGTACTTGATGTCCTGA GATAGATAGGCCAATAGATGACTCAGGAGAGGTCTGGCCCTGACAGAAAA CCAGACACAGAAAGACGAAGATAACCACGAGCTACAGCCAGAGAGCACTG TCCAGGGATGAAGGATAAACCCGGGGATTCTTCACAGCAATTAGGAGAGG GAGACGGTTTTGGCTCCATTGGAATTTATCTATTCAACCAGCATTTCTTT CTTTTTAAATTTTTTTTCTTTTTTTTCTTTTAATAGAGATGGAGTTTTGC CATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTTAAGCGATCCTCCCGC CTCGAGCTCCCAAAGTGCTGGGATTACAGGCGTTGAAATTTTTACACTAT GCCAGACACTATGAGCTGCTGGGGACATGGATGACTTAGTTCTTGTCCCT GCCTTTGGGGAATTCACATTCCAGTGAGAAAGGCAATGTCTGAGCATGGT TCTCAAACTCTGTAGTACATGAAAATCATCTGGGACACCTCGGATTGGAA AAGGACTGTGGCTACAACTCAAAATTGAGAAGCCACTAAATTTAAAAATA TATTCTGCATGTTAAATTTATAACACCATGA	T T	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18943.hp2 NA18973.hp2 NA18943.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0048 a0001c0003t0005g0049 a0001c0003t0005g0048 a0001c0003t0005g0049	2	410	0.0049	-5830	c.-51 others(14): Show c.-5168_-138-370del		CIDEC	ENSG00000187288.12	transcript	ENST00000336832.7	protein_coding	1/7					chr3	TogoVar
CLDN19_chr1_42728093_42745236	42738420	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0060 a0004c0007t0002g0060	1	428	0.0023	0	c.388 others(5): Show c.388+1G>T		CLDN19	ENSG00000164007.11	transcript	ENST00000296387.6	protein_coding	2/4					chr1	TogoVar
CLEC10A_chr17_7069537_7085251	7075358	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	458	0.0022	0	c.701 others(5): Show c.701+2T>C		CLEC10A	ENSG00000132514.14	transcript	ENST00000416562.7	protein_coding	8/8					chr17	TogoVar
CLEC17A_chr19_14578084_14617035	14585083	TCCTTTCA others(4254): Show TCCTTTCAATCAAACCCTCAAAGAGACACACAGAGAAGAGAACTGTGAAT TGTCTGCTCATTAGTTTTTATGAGAGGAAACCAGAGAATTTAAAAAAAAT ATTTTTGAGACAGGGTCTTGCTTGTCACCCAGGCTGCCCTGAAGTGGTGC AATCATAGCTCACTGCAGCCTTGAGCTCCTGGGTCCAAGCAATCCTCCTA CTACACCCTCCCGAGTAGCTGGGGTTACAGGCATGAGTCACTGTCTGTAA AGCCTCATGTGAAGCTCAGGGTCTACATATATGACTCATATGACTCTCAG GGCCTGTAAGTTCTGCAGAGATGACTGTGGTAGTCAGCCTTCAAGATGGG TTCCCTGTGACCCTTACGTTCTCATATTCGTGCCCTTGTGTAGTCTCTTC CCACAATGACTCAGAGCTGGTCCATGTGATAAATAGAATACTGTATAGTG GAGACCATCCTTTGTGACTTGTGAGGCTAGATCATAGGAGCATGGTGGCT TCTATCTTTGCCTCTGCCATGTTGTGAAGATGCCCAGTCATCCCTTTGGA GAGGCTCACATGGCAAGGAACTGAGGCCTCCCACCAACAGCCATGTGAGT GCATCATCTTGGAAGCAGATCCTCTAGCCCCAGTCAAGCCTGCAGATGAC TTGCAGTCCCAGGCAACATCTTGACTACAATCACGCAAGAGATCTCAAGC TAGAACTACCCAGCTAAGCTGCTCTCAGATTCCTGAACCACAGAAACTGT GAGATAATAAATGCTTATGGTTGTTTTAAGTCACTGCGTTTTGGGGTAAT TGGTTGTGCAGCCATAGATAACTGACCCAGTGCCCTGGTACTTCACCATG GAATGTGGGGGAATACTTAACACCTATCCCCTTAACATCTTGTTACAAAT GTTACCACTTCCAGGAGGTACTTCCTGATGACCTCTCTACATTAGCTTTT ATCCTATCCCATTGCTCTGTTTTATTAGGTTTAGAGCAGTAATACTTAGT CTATATAAAAACATATTTTAATGTTTCTTAATTTCTTTACTTTTTTTTTT TTTTTTTCTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCCGGAGTGCAA TGGTGCAATCTTGGCTGACAGCAACCTCTGCCTCCCGGGTTCAAGTGATT CTCCTGACTCAGCCTCCCTGGCAGCGGGATTACAGGCATGTGCCACTGTG CCCGGCTAATTTTGTATTTTTAGAAAAGATGGGGTTTCTCCATGTTGGTC AGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCC CAAAGTGCTGAGATTACAGGCACGAGCCACCACGCCCAGCCTCTTTTCTA CTTTTTTAAGAGTGGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGTAG TGCAATCATGGCTCACTGCTGTGTCAACCTCCTGAGCTCAAGCAATCCTC CCACCTCAGCCTCCTGATAGCTGGGACTACTGGTGTGCACCACCATGCCT GGATGGTTTTTTCTAAATTTTTTTTACAGAGATAGGGTCTTGCTATGTTG CCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCC TCCCAAAGTGCTGGGATTATAGGCATGAGCCATTGCGCCCAGCCTATTTC TATGTCTCTTTACTGGTTTATTGTGTCTCTGGTCTAGATTGAAGGAAGAA GTTTATCCATCTCTTCCACCCAGAACTTGGTGCTCTGTAGGGGAGCTCAA CTGGGAGCGGGGAGGTGGGTGGCTGTTGTCATTGTTTCTTCTTTTTCTTT CTTTCTTTCTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACTCA GGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTG AGTTCAAGTGATTCACCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGG CAGGCACCACCACGCCCGGCTAGTTTTTGTATTTTTGGTAGAGACGGGGT TTCACCACGTTGGTTGCCCAGGCTGATCTCGAACTCCCAAACTCAGGCGA CCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACC ACCCCCGGCCCATTGTTTCTTCTATGTGTGAGTCCAAACTCCAGAGAAAG ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTGTGTGAGGTCTG GGGGCTTCCCCCCAAGATGGATTTGCCTGTACTTGACTTTGAAAGGAAAG GGAAACAGACAGATGCCTTAGACATCTGAGTAGGAGAGACAAGACCTGGC TACCCCTTGTCATGTTCCTGGTGTTAGCGGTAGCCATGCACAACCTGTAT TCTATCTCTGGGTGTCCAGACCCACCAGGTAAGGCCCTGGCCAGGCTGGG GCTGGGGCCCAGGTGTGGTCAAGATCCAGGGTACAGAATCCCCATCATGG GGCAGCTGAGGCAGAGACCAGGGCTTGAGGGATGGAGGGAGGAGGGAATG GCTGGGCTCTGACTTGCCTTTCCCCTGGAAGGGACCATGGAGGAGGAGGA GGAGGATGATGACTATGAGAACTCAACACCTCCCTACAAGGACCTTCCTC CCAAGCCAGGTAAGAGGACTTTTTGGAGTGTGACCTGGGGGAATACAGGG AACGGGGTCTCCAGTGGGCATTGGTTGGGCATTGTAGACACACAGTCAGT CTCCTCTCTACACAGCCCATGCCGGGCACTGTGGAACCCACACCCTGCCC AGGAGGACCTGTCAGTCTGATGGCAGAGGCAGGATTGGGCACAGTCTTGG TGAGCAGGGTGAGAGAGGAGGGGTCAGGAGATTGGCAAAATCCTTGGGGG ACTGAGGGCTCAAATAGAGGAAGGGACTTTGGGGTGAGACTTGAGGGATG AGTAGACATTTCTTAAGAAGAGAAGTCCAGGAGAGAACTGTTAGGTGCAA AGTCCCTGAGTTACAAAAGCTGGTGCTTGAGAAACTGGGAGTGGACTGTG GGCTCCCAATCTCCTCACCTTTCTACCCAAAGCCCAGGTTTTATTTAGAC TTGGATCACAAACCCAAGGCATGGTACAGGGTCCAACAGGAGACTGATAA GTGGTTGTTAAAGTGGAGGTTTGGGCCAGCTGCAGTGGTGTGCATCTGTA GTCTTGATACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGGACAGGAG TTTGAGACCAGCCGGGGCAACATAGCAAGACCCCATCTCTGCCAAAAAAA AAAAAAAAACAAGTAGAGGTTTGGACCGTTTGTGGTGGCACATGTCTGTA GTCCCAGCTACTTGGGAGGCTGAGTCAGGAGGATCGCTTGAGCCCAGGAG TTCTGGGCTATTGTGAAGTATGTGATTGGGCATCTGCACTAAGTTTGGCA TCAATATGGTGATGTTTTGGGAGCAGGGACCACCAGGTTGCCTAAGGTGT CTGAGGAGGGGTTTCCAGGTTGGAAACAGAGCCACTCGACACCCCCGAGC TGATCAGTAGTGCGACTGCTCCTGTGAGTAGCCGCTGCACTCCAGCTTGG GCAGCATAGCGCGACCCCACTTCTAAAAAAATAGAGAAAATGAAACCGGA GGTTTTTGAGGTATTCCTGAGTTTACTGCCACCAGGGACCCTGAGGCCAT GAGAGATCCTGGGGGCCCAAAACAGAAAATCCCTGAGATATGCTGATGGC CTGGTCCTGGTGACCTTAGACAGGGGCCATTCTATGAGGGCTGAGGCTGT ATATCCCCCATCTCTGAGTCCAGAGTGGGGCCACCTGGGAGGTCCAGAAA TATGGTGGGACTTGCCTGAGGTAGGAGGTGACCTGTGCTGTGTTGTTTCA CTGCCCCATTTCCAATTTATGGTCCTAATGTGACCCTCAAGCCCTGGGTC TACATATATGACCAACCAATCCCATTCCCTTCTTCAGGGCCACGTCTGCT CCAAAAGCACAGTCCTGTCCCCACATCCACATGCAGCCCAGCATCCACTC TCCAATCCAACTTCATCACCCTCTCTACTATAGCCCAGCCTCGACTCCTT CCCCCTTCCCAAACCTGGCAAGGACTCTGTTCTTCATCCTAACCACATCA TGACCTTACCCACATCCATCCCTGTCCCCAACCCATTTTCCATCCCATCC CACCCCATCCCAACACCAATTCTAATCCAAACCTCACCTCATCTTCATCC CCATCCTGAAACGCAACTGTTTTTGTTTTTTAAAATCCCCTCCATCCCCT TCCATCCCTTCC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0004 a0009c0004	a0009c0004t0002 a0009c0004t0002	a0009c0004t0002g0084 a0009c0004t0002g0084	1	364	0.0028	-4261	c.121 others(17): Show c.121+1827_199+1830del		CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC17A_chr19_14578084_14617035	14585489	TGACTCAG others(4256): Show TGACTCAGAGCTGGTCCATGTGATAAATAGAATACTGTATAGTGGAGACC ATCCTTTGTGACTTGTGAGGCTAGATCATAGGAGCATGGTGGCTTCTATC TTTGCCTCTGCCATGTTGTGAAGATGCCCAGTCATCCCTTTGGAGAGGCT CACATGGCAAGGAACTGAGGCCTCCCACCAACAGCCATGTGAGTGCATCA TCTTGGAAGCAGATCCTCTAGCCCCAGTCAAGCCTGCAGATGACTTGCAG TCCCAGGCAACATCTTGACTACAATCACGCAAGAGATCTCAAGCTAGAAC TACCCAGCTAAGCTGCTCTCAGATTCCTGAACCACAGAAACTGTGAGATA ATAAATGCTTATGGTTGTTTTAAGTCACTGCGTTTTGGGGTAATTGGTTG TGCAGCCATAGATAACTGACCCAGTGCCCTGGTACTTCACCATGGAATGT GGGGGAATACTTAACACCTATCCCCTTAACATCTTGTTACAAATGTTACC ACTTCCAGGAGGTACTTCCTGATGACCTCTCTACATTAGCTTTTATCCTA TCCCATTGCTCTGTTTTATTAGGTTTAGAGCAGTAATACTTAGTCTATAT AAAAACATATTTTAATGTTTCTTAATTTCTTTACTTTTTTTTTTTTTTTT TCTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCCGGAGTGCAATGGTGC AATCTTGGCTGACAGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTG ACTCAGCCTCCCTGGCAGCGGGATTACAGGCATGTGCCACTGTGCCCGGC TAATTTTGTATTTTTAGAAAAGATGGGGTTTCTCCATGTTGGTCAGGCTG GTCTCGAACTCCCGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGT GCTGAGATTACAGGCACGAGCCACCACGCCCAGCCTCTTTTCTACTTTTT TAAGAGTGGGGTCTCCCTCTGTTGCCCAGGCTGGAGTGTAGTAGTGCAAT CATGGCTCACTGCTGTGTCAACCTCCTGAGCTCAAGCAATCCTCCCACCT CAGCCTCCTGATAGCTGGGACTACTGGTGTGCACCACCATGCCTGGATGG TTTTTTCTAAATTTTTTTTACAGAGATAGGGTCTTGCTATGTTGCCCAGG CTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTGCCTTGGCCTCCCAA AGTGCTGGGATTATAGGCATGAGCCATTGCGCCCAGCCTATTTCTATGTC TCTTTACTGGTTTATTGTGTCTCTGGTCTAGATTGAAGGAAGAAGTTTAT CCATCTCTTCCACCCAGAACTTGGTGCTCTGTAGGGGAGCTCAACTGGGA GCGGGGAGGTGGGTGGCTGTTGTCATTGTTTCTTCTTTTTCTTTCTTTCT TTCTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACTCAGGCTGG AGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGAGTTCA AGTGATTCACCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCAGGCA CCACCACGCCCGGCTAGTTTTTGTATTTTTGGTAGAGACGGGGTTTCACC ACGTTGGTTGCCCAGGCTGATCTCGAACTCCCAAACTCAGGCGACCTGCC AGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACCCCC GGCCCATTGTTTCTTCTATGTGTGAGTCCAAACTCCAGAGAAAGATGTGT GTGTGTGTGTGTGTGTGTGTGTGTTTGTGTTTGTGTGAGGTCTGGGGGCT TCCCCCCAAGATGGATTTGCCTGTACTTGACTTTGAAAGGAAAGGGAAAC AGACAGATGCCTTAGACATCTGAGTAGGAGAGACAAGACCTGGCTACCCC TTGTCATGTTCCTGGTGTTAGCGGTAGCCATGCACAACCTGTATTCTATC TCTGGGTGTCCAGACCCACCAGGTAAGGCCCTGGCCAGGCTGGGGCTGGG GCCCAGGTGTGGTCAAGATCCAGGGTACAGAATCCCCATCATGGGGCAGC TGAGGCAGAGACCAGGGCTTGAGGGATGGAGGGAGGAGGGAATGGCTGGG CTCTGACTTGCCTTTCCCCTGGAAGGGACCATGGAGGAGGAGGAGGAGGA TGATGACTATGAGAACTCAACACCTCCCTACAAGGACCTTCCTCCCAAGC CAGGTAAGAGGACTTTTTGGAGTGTGACCTGGGGGAATACAGGGAACGGG GTCTCCAGTGGGCATTGGTTGGGCATTGTAGACACACAGTCAGTCTCCTC TCTACACAGCCCATGCCGGGCACTGTGGAACCCACACCCTGCCCAGGAGG ACCTGTCAGTCTGATGGCAGAGGCAGGATTGGGCACAGTCTTGGTGAGCA GGGTGAGAGAGGAGGGGTCAGGAGATTGGCAAAATCCTTGGGGGACTGAG GGCTCAAATAGAGGAAGGGACTTTGGGGTGAGACTTGAGGGATGAGTAGA CATTTCTTAAGAAGAGAAGTCCAGGAGAGAACTGTTAGGTGCAAAGTCCC TGAGTTACAAAAGCTGGTGCTTGAGAAACTGGGAGTGGACTGTGGGCTCC CAATCTCCTCACCTTTCTACCCAAAGCCCAGGTTTTATTTAGACTTGGAT CACAAACCCAAGGCATGGTACAGGGTCCAACAGGAGACTGATAAGTGGTT GTTAAAGTGGAGGTTTGGGCCAGCTGCAGTGGTGTGCATCTGTAGTCTTG ATACTTTGGGAGGCCGAGGTGGGAGGATCGCTTGAGGACAGGAGTTTGAG ACCAGCCGGGGCAACATAGCAAGACCCCATCTCTGCCAAAAAAAAAAAAA AAACAAGTAGAGGTTTGGACCGTTTGTGGTGGCACATGTCTGTAGTCCCA GCTACTTGGGAGGCTGAGTCAGGAGGATCGCTTGAGCCCAGGAGTTCTGG GCTATTGTGAAGTATGTGATTGGGCATCTGCACTAAGTTTGGCATCAATA TGGTGATGTTTTGGGAGCAGGGACCACCAGGTTGCCTAAGGTGTCTGAGG AGGGGTTTCCAGGTTGGAAACAGAGCCACTCGACACCCCCGAGCTGATCA GTAGTGCGACTGCTCCTGTGAGTAGCCGCTGCACTCCAGCTTGGGCAGCA TAGCGCGACCCCACTTCTAAAAAAATAGAGAAAATGAAACCGGAGGTTTT TGAGGTATTCCTGAGTTTACTGCCACCAGGGACCCTGAGGCCATGAGAGA TCCTGGGGGCCCAAAACAGAAAATCCCTGAGATATGCTGATGGCCTGGTC CTGGTGACCTTAGACAGGGGCCATTCTATGAGGGCTGAGGCTGTATATCC CCCATCTCTGAGTCCAGAGTGGGGCCACCTGGGAGGTCCAGAAATATGGT GGGACTTGCCTGAGGTAGGAGGTGACCTGTGCTGTGTTGTTTCACTGCCC CATTTCCAATTTATGGTCCTAATGTGACCCTCAAGCCCTGGGTCTACATA TATGACCAACCAATCCCATTCCCTTCTTCAGGGCCACGTCTGCTCCAAAA GCACAGTCCTGTCCCCACATCCACATGCAGCCCAGCATCCACTCTCCAAT CCAACTTCATCACCCTCTCTACTATAGCCCAGCCTCGACTCCTTCCCCCT TCCCAAACCTGGCAAGGACTCTGTTCTTCATCCTAACCACATCATGACCT TACCCACATCCATCCCTGTCCCCAACCCATTTTCCATCCCATCCCACCCC ATCCCAACACCAATTCTAATCCAAACCTCACCTCATCTTCATCCCCATCC TGAAACGCAACTGTTTTTGTTTTTTAAAATCCCCTCCATCCCCTTCCATC CCTTCCCCTTTCAATCAAACCCTCAAAGAGACACACAGAGAAGAGAACTG TGAATTGTCTGCTCATTAGTTTTTATGAGAGGAAACCAGAGAATTTAAAA AAAATATTTTTGAGACAGGGTCTTGCTTGTCACCCAGGCTGCCCTGAAGT GGTGCAATCATAGCTCACTGCAGCCTTGAGCTCTTGGGTCCAAGCAATCC TCCTACTACACCCTCCCGAGTAGCTGGGGTTACAGGCATGAGTCACTGTC TGTAAAGCCTCACATGTGAAGCTCAGGGTCTACATATATGACTCATATGA CTCTCAGGGCCTGTAAGTTCTGCAGAGATGACTGTGGTAGTCAGCCTTCA AGATGGGTTCCCTGTGACCTTTACGTTCTCATATTCGTGCCCTTGTGTAG TCTCTTCCCACAAC	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19063.hp1 NA19063.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0123 a0005c0008t0003g0123	1	364	0.0028	-4263	c.122 others(17): Show c.122-1613_200-2018del		CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC17A_chr19_14578084_14617035	14594551	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00544.hp2 HG01993.hp1 NA18983.hp1 HG00544.hp2 HG01993.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248	3	364	0.0082	0	c.310 others(5): Show c.310+2T>C		CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	5/13					chr19	TogoVar
CLEC18C_chr16_70168787_70191895	70174403	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	355	0.0028	0	c.124 others(5): Show c.124+1G>A		CLEC18C	ENSG00000157335.21	transcript	ENST00000541793.7	protein_coding	2/12					chr16	TogoVar
CLEC7A_chr12_10111777_10135199	10129979	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0189 a0004c0004t0005g0189	1	450	0.0022	0	c.103 others(5): Show c.103+1G>T		CLEC7A	ENSG00000172243.18	transcript	ENST00000304084.13	protein_coding	1/5					chr12	TogoVar
CLPSL1_chr6_35776019_35793150	35787122	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	444	0.0023	0	c.222 others(5): Show c.222+2T>C		CLPSL1	ENSG00000204140.10	transcript	ENST00000373861.6	protein_coding	2/2					chr6	TogoVar
CLSPN_chr1_35727112_35774978	35743140	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19030.hp2 NA19240.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0094 a0001c0001t0004g0082 a0001c0001t0004g0094	2	296	0.0068	0	c.314 others(6): Show c.3143+1G>A		CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding	18/24					chr1	TogoVar
CMA1_chr14_24500353_24513265	24507355	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00423.hp2 HG00558.hp2 HG02040.hp2 others(3): Show HG00423.hp2 HG00558.hp2 HG02040.hp2 NA18612.hp2 NA18943.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	6	432	0.0139	0	c.209 others(5): Show c.209+1G>C		CMA1	ENSG00000092009.10	transcript	ENST00000250378.7	protein_coding	2/4					chr14	TogoVar
CMBL_chr5_10272595_10312902	10307624	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0039 a0001c0002t0014g0039	1	350	0.0029	0	c.-20 others(5): Show c.-20+1G>A		CMBL	ENSG00000164237.9	transcript	ENST00000296658.4	protein_coding	1/5					chr5	TogoVar
CNBD2_chr20_35963590_36035700	36011258	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	268	0.0037	0	c.126 others(6): Show c.1269+1G>C		CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	10/11					chr20	TogoVar
CNGA2_chrX_151729746_151750564	151738878	AG AG	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18974.hp1 NA18974.hp1	a0017 a0017	a0017c0013 a0017c0013	a0017c0013t0001 a0017c0013t0001	a0017c0013t0001g0034 a0017c0013t0001g0034	1	336	0.0030	-1	c.203 others(6): Show c.203+1delG		CNGA2	ENSG00000183862.6	transcript	ENST00000329903.5	protein_coding	3/6				INFO_REALIGN_3_PRIME	chrX	TogoVar
COL16A1_chr1_31647263_31709017	31689049	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01243.hp1 HG01243.hp2 HG01884.hp1 others(15): Show HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp2 HG02258.hp2 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp2 HG03209.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0027	a0001c0005 a0001c0006 a0001c0016 others(7): Show a0001c0005 a0001c0006 a0001c0016 a0001c0017 a0001c0051 a0002c0009 a0005c0022 a0005c0041 a0005c0048 a0027c0050	a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 others(10): Show a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0016t0003 a0001c0017t0003 a0001c0051t0002 a0002c0009t0002 a0005c0022t0001 a0005c0022t0002 a0005c0041t0002 a0005c0048t0008 a0027c0050t0001	a0001c0005t0001g0100 a0001c0005t0001g0128 a0001c0005t0001g0130 others(15): Show a0001c0005t0001g0100 a0001c0005t0001g0128 a0001c0005t0001g0130 a0001c0006t0001g0097 a0001c0006t0001g0099 a0001c0006t0002g0086 a0001c0006t0002g0096 a0001c0006t0002g0098 a0001c0006t0006g0104 a0001c0016t0003g0030 a0001c0017t0003g0031 a0001c0051t0002g0095 a0002c0009t0002g0146 a0005c0022t0001g0085 a0005c0022t0002g0084 a0005c0041t0002g0212 a0005c0048t0008g0040 a0027c0050t0001g0129	18	342	0.0526	0	c.165 others(6): Show c.1656+1G>T		COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding	24/70					chr1	TogoVar
COL17A1_chr10_104026286_104090880	104033944	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02895.hp1 HG02895.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0281 a0006c0008t0002g0281	1	336	0.0030	0	c.415 others(6): Show c.4156+1G>C		COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	52/55					chr10	TogoVar
COL18A1_chr21_45400165_45518720	45493559	CCCAGAAA others(49): Show CCCAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTCCTTCCGGCAGGCGT GGGGGCT	C C	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG04115.hp1 HG04115.hp1	a0021 a0021	a0021c0086 a0021c0086	a0021c0086t0002 a0021c0086t0002	a0021c0086t0002g0176 a0021c0086t0002g0176	1	292	0.0034	-56	c.233 others(68): Show c.2339_2352+42delAGAAAGGAGCCAAGGTGAGGGCCGGGCAGCCTC CTTCCGGCAGGCGTGGGGGCTCC	p.Gln others(5): Show p.Gln780fs	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	26/42	2405/5408	2339/4020	780/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45496569	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0268 a0001c0008t0002g0268	1	292	0.0034	0	c.257 others(6): Show c.2577+1G>A		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	30/41					chr21	TogoVar
COL18A1_chr21_45400165_45518720	45497073	CGGGCCTC others(32): Show CGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACA	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02257.hp1 HG02257.hp1	a0027 a0027	a0027c0070 a0027c0070	a0027c0070t0001 a0027c0070t0001	a0027c0070t0001g0012 a0027c0070t0001g0012	1	292	0.0034	-39	c.260 others(51): Show c.2603_2620+21delGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGC TCACAG	p.Pro others(13): Show p.Pro869_Gly874del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	31/42	2669/5408	2603/4020	868/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45509603	T T	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02132.hp1 HG02132.hp1	a0034 a0034	a0034c0075 a0034c0075	a0034c0075t0001 a0034c0075t0001	a0034c0075t0001g0116 a0034c0075t0001g0116	1	292	0.0034	0	c.349 others(6): Show c.3495+2T>G		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	39/41					chr21	TogoVar
COL19A1_chr6_69861556_70217468	70142077	G G	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0026 a0004c0017t0026	a0004c0017t0026g0130 a0004c0017t0026g0130	1	182	0.0055	0	c.157 others(6): Show c.1572+1G>T		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	22/50					chr6	TogoVar
COL23A1_chr5_178232618_178595393	178263111	TGCACTAG others(1361): Show TGCACTAGAGATGGGGATGGGGATGGGGCTGGCTCTGGAATCAGGATTTG GGGTTTTGGTCAAGTCCTGCGTGGCCCAACTCCATGCCCTCTCTTACCGC TGGGCCTTGTGCTCCCCTGGGGCCATCTTTCCCAGTGTCGCCAGGAGGGC CCCGGGCCCCAGGAGGTCCAGGGGGCCCCGGAGGCCCAGCAGCTCCATCT TGTCCTTGGTCTCCCTGAAAGAGATGGGGCTTGGCATGACTCTGAGGGGG AGGGGGTCCAGCCTCCAGAGAGAGGCTCCCTCAGATGGGCAGCCCCACGC CATCCCCTTCCCCAGCCCTTGGGCAGGCTCAAAGGGGAGGGCTTTGTTAT TGGGCCTCTTGCCACTTATTGGGAGCTGCATGAAGGAACAGGTCCCCATA CCTTGGTGTAAGAGGCCCTACAGGACCCTTTACATGCCAAGGAATGTGCC AGCTCTCCAGCGCCTGAAGCCCAGATCCAGTGTTTAGGAGAGAGATGGCA CACGCTGCATGTGGGAGACAGCACGTGTGTCCAGCTGCCCCCTCTTCTTT CTAGAACGGGGTCTGAGTGTCTCCTGAAGGACCTTCCTGGTTGGTCAACT CCCACTTCATTTAAGTATGGAGGGGCACTCTTGGGCATTTATCCTTGTTC ACAGCTGCTTTATTAGTAACAGCCCCAAACTGGAAACTAATCCGAAAGTC CTTTGGTAGGTGGAAGGTTAAGGAGCTGGGGTACATCCACATCATGGAAC ACAACTCAGCAATCAACCCAAAGGAACAGGGCACGACACATGCAACACCT CAGATGCATCTCAGGAGAATTATGCTAAGTGGAAAAAGTCCATCTCCAAA GCTTAATACTGTGTGGCTGTATCTACGTAACACTCTTGAAATGGCAACAT TGAAGAGATGGAGAGCCCATAATGGTTGCCAGGCGTTAGGGATGGGGGGA TGAAGGTGATTGTAACTACAAAAGAACAGCATGAGGGACCTTTGTGGGCT TACACAAATCGACGGGTGTGTTAAAATTGCACAGAACACACAAACGAGTG TGTGTACAGGTGGGGGCATCTGAATAAGGTTGGTGGATTGTATCATTGTC AATTTCCTGTTGTGAGACTGTACTACAGAGATGCAAGATGTCACCATTGG GGGAGACTGGATGAAGGGTACACAGGTGTTATTCACTACAATTACATGTA AATCTACAATTATCTCAAAATAAAAGTAAAAAAAAAAAAAAGGATGATGA AGGGCCACATGGTTTCTCTCATGCAGCAGTAAATCCCCAACTTTAGAACC TGATGTTAGTACTGGGGTCAGACCTCAGGCAGCCGGAGCCCCACCTCATG GCCCAACCCGAGAGGAAGG	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00639.hp1 HG00639.hp1	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0002 a0013c0010t0002	a0013c0010t0002g0117 a0013c0010t0002g0117	1	236	0.0042	-1368	c.523 others(15): Show c.523-1155_639+96del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	9/29					chr5	TogoVar
COL6A5_chr3_130340672_130489846	130413180	CTCCCATG others(873): Show CTCCCATGGGAAGGCTCTGATTAGCAGACAGTGCTTTTTGGGATTTGCCG GAGAGGGAAATACAGGAGACAGGATCTTCAGGATGATTTGATTCTCTAAA CAGCCTCCTGGATAATTGTTAGAGGCTGTCAGACTGGAGCTGGGTCTGTA ATGACTTTTAGATTAGTTTGCAATCAGTCCCCCAAATGTTAGTCTCTAAT TAAGTGCCCAGTGTGAAAGCTTGTCTATGGAAAATGCCTCAGGGAAACTG TTTCTGTGAGCTGCTCATTACTTATGTCTAGCAGAGAATGAAAGAGGCTG ATTTGCCTCAAGGAACCCCTCCATTCAGACATCCACATACTAACAGTTTG CCTTTTCTGTCCCAGGGAAGAGAAGGTCAAAGGGGACTCCGAGGTGTCTC AGTAAGTAACCTTGACTTCCTGTTCTCTGTGGTTGATGGGACCAAGGAGG TTTCTCCCATGTAGGTGGTGCTGGGAATCATATCAATGAGCATTTTACAA GGGTATAGGAAGTGCCCAGTACTGGACGTGATCCCCACTGACCCAATAAT CACTGCAGCTCCCGGGAACAGAACAGACCTAAGGAAAAGCCTCCCTGATA GATACCTGGCAGACAGGCAGAACCTGTGCAATTCCAAATATTGTGCATTT GACTGCTCTTCATGTGCTTTGGGAATCAACTTCAAGAGAGAGAAATTCCT TATTGGAGTAAGAAACAAGTTTATGTTCATTCCTTAGACAGTCTAGAACT GTAAAATCCTAGGCCAAGTAGAGGGTGAGCCACAAGTCAGACAAAATAGT ACCTATTTCTGATGTAAATAGTATGAAAAGAAAATCTATATGGAAACAAC GTGTAGAAATGCTTGACACTGGAAACTCTTG	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG00642.hp2 HG01515.hp1 HG00642.hp2 HG01515.hp1	a0027 a0027	a0027c0089 a0027c0090 a0027c0089 a0027c0090	a0027c0089t0002 a0027c0090t0002 a0027c0089t0002 a0027c0090t0002	a0027c0089t0002g0200 a0027c0090t0002g0280 a0027c0089t0002g0200 a0027c0090t0002g0280	2	292	0.0069	-880	c.466 others(15): Show c.4663-363_4699-8del		COL6A5	ENSG00000172752.16	transcript	ENST00000373157.9	protein_coding	21/41				INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130563666	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02083.hp1 HG02083.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0006 a0013c0012t0006	a0013c0012t0006g0086 a0013c0012t0006g0086	1	264	0.0038	0	c.661 others(5): Show c.661+2T>C		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	3/36					chr3	TogoVar
COL6A6_chr3_130512177_130682042	130621884	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0202 a0002c0002t0004g0202	1	264	0.0038	0	c.487 others(6): Show c.4878+1G>A		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	24/36					chr3	TogoVar
COL7A1_chr3_48559073_48600329	48594366	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0030	1	236	0.0042	0	c.266 others(5): Show c.266+2T>C		COL7A1	ENSG00000114270.18	transcript	ENST00000681320.1	protein_coding	3/118					chr3	TogoVar
COQ6_chr14_73945302_73968670	73958272	TTGTTGGT others(9): Show TTGTTGGTAGTTGAAGA	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19075.hp2 NA19075.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0073 a0008c0010t0001g0073	1	456	0.0022	-16	c.609 others(26): Show c.609_612+12delGTTGGTAGTTGAAGAT	p.Leu others(5): Show p.Leu204fs	COQ6	ENSG00000119723.17	transcript	ENST00000334571.7	protein_coding	5/12	640/2109	609/1407	203/468	INFO_REALIGN_3_PRIME	chr14	TogoVar
CORIN_chr4_47589001_47843067	47837885	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp1 HG01109.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0003 a0009c0014t0003	a0009c0014t0003g0004 a0009c0014t0003g0004	1	264	0.0038	0	c.63+ others(4): Show c.63+2T>C		CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	1/21					chr4	TogoVar
CORIN_chr4_47589001_47843067	47837886	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp1 HG01109.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0003 a0009c0014t0003	a0009c0014t0003g0004 a0009c0014t0003g0004	1	264	0.0038	0	c.63+ others(4): Show c.63+1G>C		CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	1/21					chr4	TogoVar
CORO7_chr16_4349542_4421596	4364773	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	297	0.0034	0	c.104 others(6): Show c.1044+2T>G		CORO7	ENSG00000262246.6	transcript	ENST00000251166.9	protein_coding	12/27					chr16	TogoVar
CPNE7_chr16_89570758_89602246	89585766	AGGCCTTT others(67): Show AGGCCTTTGAGGAGGGGCAGGTGAGCAGGACGGGGTAGGGGGTCCTCCAG GGAGGGTCAGGTGGGGGTGGAGGGG	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18747.hp2 NA18747.hp2	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0002 a0009c0019t0002	a0009c0019t0002g0253 a0009c0019t0002g0253	1	348	0.0029	-74	c.768 others(84): Show c.768_780+61delTGAGGAGGGGCAGGTGAGCAGGACGGGGTAGGGGG TCCTCCAGGGAGGGTCAGGTGGGGGTGGAGGGGGGCCTT	p.Phe others(5): Show p.Phe256fs	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	7/15	908/2442	768/1677	256/558	INFO_REALIGN_3_PRIME	chr16	TogoVar
CPPED1_chr16_12654799_12808887	12697915	CAGCCTGG others(17541): Show CAGCCTGGCCAATACAGTGAAACTATCTCTTCTAAAAATACAAAAATTAG CCAGATGTGGTGGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGT CAGGAGAATTGCTTGAACCTGGGAGGCGGAAGTTGCAGTGAGTCAAGATG GCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGACCCCAACC CCCACCAAAAAAAAGTCAGTTCATGAAAACCAACTCACAAGTGATACGGA TATTACCTGCTGATAAGTAGACTTGAATCACGCTTAATTCAATTCCATTG ACCACTATTCACCTATTGGGGGGCTACTATATGACAGTCTCAGCTAGGGG CTGGCCTTACAGAGGTGAATAAGGCTGGGCTTCTGTTTCCTGGAGGAATC AGGATCTAAACAGTGACTGCAATACAGCGCAAAGGATGTCAGAGCAGGAT TTGATGTTTTATCTTCCTATAAAGTAAATCCTGGGAACCTGATCTTTTTG TTCTTTAAAACTTTGAATTTTTTTTATTTATTTTTGAGACACAGTCTTGC TCTGTTGCCCAGATTGGCATGCAGTGGCGTAATCTTGGCTCACCGCAACC TCCGCCTCCAGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGTGCCTGCCACCATGCCCGGCTAATTTCTATATTTTAGTA GAGATGGAGTTTCACCATGTTGCCCAGGCTGGTCTTGAATTCCTGACTTC AAGTGATCCACCCACCTCGGCCTCCCAAAGTGCCGGGATTACAGGTGTGA GCCACTGCACCTGCCAAAACTTTGAAATCTTAAAACTATAACCATGGACT AAGATTTATCTTCTCTCTCTCTCATTTTCTAAAAAAGCATAAATACTAGA AATGAAACTCTAATTCTGTGAAATGACTCATTAACTTTTGCGGGGAAGAT CAACTTATTGGAATTTTTCATAATTGCCAAATTTGCTCTGGGCTCTCTAA CACACAGTTCTAATCTCTCTTCGGAGAATGGAAAAAAAGAAAAGGTATCG AGACATCAAGGGAAACATGGTCAGTTAAAGATCTAGCTTTTGTTTTTTAA GACTGAGCTTCTAAATTGGAATCAATATTAAATGGGTCATATATTAACCC TCTGCTGAAAGAGGCATAAAGGACCGAGAAAATGTCTAGGTTCAACCAAA ATTTCATTATCTACTATCTGTCTTTGCTACTCCAACTAGGTATCAGGTGA ATAAAGCGGAAAACCAATTTCTACATCCCTTGGATGTGATGAAATTGATT ATCCTCACGCAGGTGAAATGAAGACAGAAAATAACAGGTGCTGCTTCACA CTGGTATATCTGTCCTGACCTGATAACTGTTTATTTGTACCGGCTATTGA CAATGTTTTTGTATCATACAAAGACGGTTTTTCACTGAGCTTCAAAAGTA GAAACAGGATGCATCTGTTTCTAGGGAAACCTGCACTTGGAGGCTGGCAG GCTTCGATTCACACAGCACACCCCTCCACTCCCGGTGGTCCACTGCACAG TGACACCCTCCTCCTCGTTTATCTCATCCCATTTTTAAAAATTAATGCAA CAATGAGAGATGATTGTTGATGCTCATTATTAAATCATTTATTCATCCCA CACAATGATTCAGAATTATTCATCAAGCTTGCTGGAAGGAAGCTGGGTTT TACCTCCACGGTGGTTTGGGGAGAGATGTGCTCTTTAAAAGGGTATTTTA TAACAACACAATTATCATAATTAAAAGTTACCCTGATATTCTGATGAGCT TTTGACATATTTTTGAGTACTGGCATTTCAGCACAAGGAGATAAATGAGA CTGAGACAGTAGTAGGGAATAATATTGCCATGGGGGGAAGAAAACAAAGG CAATATTAAATACCAGCTGCCATCGTCACCCCCAATTTTATCCCAGCCTT TAAGTTAATGAATTTTACAAAATATCACTTGAACTTCTGGCTCTCCAAAA TGAGTTCCAATTATGTTGTTGTGACCTGAGCCGCTTTCTGCATAACTGAG TCATGGATGCGTACAGCCAAGAGCGCCCACCTACATGAGCTTCCAAGCCC AGCAAGTCTATCTGCCTGCAGCGGAGAGCCTCCACATCCGACTCATATTT CCTTCTGATGTTGCCTAAGATTTGTTCTGTGTTTGGAAGGTCATTCAGCA AAAGGCCTGGTTTGGCAGGCCACGGAAACTGACAGGGAATTTCGGGAAGG GCTCTCATCTCTCTGGCCTTCTCTGTGAAGCAGGTTTAGGTGAAGACCCT TAGGCCAGTGGCCAAGAAGAGGTAGGTGCCTTTGTATACCTGCAGGTGGT GCCTGGAGGAAGCAGTGGGAGGGGGTGCTTGGGAAGAGAAAGACTGCTGA GTGACTTTGGAGAGCCAGCCTGGGGACCAGAGCAGAGAGAGGCACAAGTG GCTTCCCTAAGACCAAAGGCCACAGAGGCCACGTGTTGAACACAGAGGTC TGAACATGCTCTGTTGCCCAAGGTGGAGTGCAGTGGCATGATCTCGGCTC ATTGCAATCTCCACCTCCCAGGTACAAGCAATTCTCCTGCCTCAGCCTCC GCAGTAGCTGGGATTACAGGTGGGCACCACCAGGCCTGGTTAATTATTGC ATTTTTCAGTAGAGACAGGGTTTCGCCCTGCTGGCCAGGCTGGTCTTGAA CTCCTGACTTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTAGGAT TACAGGTGTGAACTACCACACCTGGCCCAAAGACTTTCATTCATTCATTC CACAAATACTGATAAAACATTTATTATGAGCTAATATCTGAGCCAGGTCT CCCAACTGCATAGCTGAATATGACCCTGTCCCTGCCCTCAGGGAGCTGAG AGTTTAGCGGGGATTCAGACAAGTCAACACTTGCAAATCCACCTGACAAG TGCTGGGATAAGAGAAGCTGAAGAACCTGGGGTGGGGAGGAGGGGAGAGC CTTATACAGAAGATGTCAAAGTTGAGTGGGAGGCGGGATGTGGTGTCTCA TGCCTGTAATCCTAGCACTTTGGGATACCCCGGCGGGAGGGTCACTTGAG GCCAGGAATTTGATATCAGCCTGGGCAACACAGTGAGACCTCCATCTCTG CAAAAAATAAAAAAATTAGCCAGGCATCGTGGCACTCCCCTGTAGTCCCA GCTACTTAGGGGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAATCCAGG GCTGCAGTGAGCTATGATCACATCACTGCACTCCAGCCTGAGTGACATAG TAAGACTCCATCTCAAGAAAAAAAAAATGTTGAGGCCGGGTGTGGTGGCT CACACCCGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACTTG AGGTCAGTCAGGAGTTCAAGACCATCCTGGCCAACATGGTGAAACCCCAT CTCTACTAAAAATGCAAAAATTAGCCAGGCATGGTGGTGCGCGCCTGTAA TCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGG TGGAGGAGGTGGTAGTGACCCGAGATCATGCCACTGCACTACAGCCTGGG TGACAGAGTGAGAATGTCTCAGCAAACAAAAAATTGTTGAGTGGGCCTAG GCAGGTGAACCAGAAGAGGCTGGAGGGGAAGGCAGATGTGACTGAGAAGG GCCCTGGACACTGCAGTGAAGAGCTGGGCCGGACCTGGGGGTGGAGGGAA GCCTCATGCTTTGCAGTCAGTTACACACCCATCTTGCTGTTAGGTGCAGA ATGAACTAGAATGGGTAAGAGCAGAGTGGGGAGCACAGTGCAGAGCTGCT GCTAAGACCCAGATGAGACAGTGGACAGGCTACAGAGACACGAAGGAGGT AGAATTAAAGGGACATGAAATAACCAAGTGCCTTCAGCTAGCGAGCTCCT CCGGAGATGGAGCCATTGGATTCCAGCGCCTGATGTCACTGAGAGTGGAA TAAGGCAGCTAACCCCCCTGTTTTCTCATGCCTACCAAGCAGCCTCCTGA TTATAATTGGGCTTCCCATGTAGCTCTGCCTACGGGAAGAGAAAGCACCG CTGGGGTGGAGGCCAGGGCTGCGGTCTTGCTCTAAATTAATCAACTGCCA TTCTGGTTTGTAGCTATCAGTCTCTGGGAGCTGGGATAATTGGAGACACA GACCAGCTCTTGGTTTGCCAGCAACTCTGGTTCCTGTGCTTGAGGGGTTG CAGATCTGAGTGGGCAGGGGGCTGGGGCATCATGGATATGATGCCACCCT GTAGGGCCCTTGGTGGGTGGTCAACAGGCTTCTCCCAAGGGTGCCCTGTT AGAGCTCACACCTGTAATTTAAACTCTTCGGGGGGCCAAGGCAGGGGGAT CATTTGAGGCCAGGAGTTAAAGCCCAGTGAGGTGCAACACAGTCAGACCC CGTTTCTACAAATAATTAAAAAAATTAGCTGGGCATGGTGGTGTGTGCCT ATAGTCCCAGGTTCTCAGAAGGTAGAGGTGGGAAGATTGTTTAAGCCTAG GAGGTCGAGGCTGCAGTGAGCCATGATCACGCCACTGCACGCCAGCCTGG GTGACAAAGCAAGACTCTCAATCAATCAATCAATCAATCAATAGAAAAAA TTAGAACTGTGAGTCTTCTCAGTATCTGGGGGTGCTCTGTCCTACAAGGG GAAAACCACAGAACTACATACCACTCAGGAATGTGGTCAACAAGAACAAG AACAAAGAACTCAGGGCAGTCATGGGCTTTACATCATCTAACATTAGATC TGGCCAGCTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCG AGGTGGGTGGATCACCTGACGTCAGAAGTTTCGAGACCAGCCTGGCCAAC ATGGTGAAACTAAACCTGGCCAAACTGTCTCTACTAAAAATACAAAAACT AGCTGGACATGGTGATGGGTGCCTGTAATCCCAGGTACTCAGCAGTCTGA GGCAGAAAAATTGCTTTAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGA TGGTGCCACTGCACTCCAGCCTGGGTGACAAGAGCGGGACTCCGTCTCAA AAAAAAAAAAAAAAGAAATACCATTGGATATGAAAGGAATCACTTCAATG GCATTAAATGTTCTCTCTGGCTTTATTCTCCACTACAGAATAGTCTCCAT GGTGGTGCTCATGCCGCCTTGACGCTTTGTTTCCTTGTCATCAAGACAGT TTTCTGCACCAACTCAAGCATGGCATGAAATTTCAAACGACTTAATAGAA GTTTTCTAACTTTATCTCCATGGAACAGCTGGAAAACATCTCCAATTATG TGAGCTTATTGCAAAATGTCTTGAAAATACAAAATGTTCCGCTGGGTGGG GTGGCTCACACCTGTAATCCCAGCACTGTATTCCCAGATGGGACTAAATC CGTTACTCTCTCCGGATTCTGGAGGAGAACTTAATCCACCTCACCAGAGG AAAACTGATCACGTCCCGTGGCCTTGGGAAGCCAAGGTGGGTGAATCACT TGGGGTCAGGAGTTTGGAACCAGCCTGGACAACATGGTGAAACCCCATCT CTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTCAGCGTTTGTAATC CCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCTGGGAGGCG GAGGTTGCAGTGAGCCGAGATTTTGCCACTGCACTCCAGCCTGGGCAACA GAACAAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAGTAAGCCCTGGT GAAAGGAAGAACGAGGACAAAGAGAAGAGACACAACAGTTGTCAAAACTG GAATTTGCCAAATCACTGGTAACCCAGGGAATCTGCCTAGAACAGACTGT TTCTCTTGAAAGGCCCATGGCAGGTGCTACCAGAAAGATAAAGGAGGTGG GTGGGCTAGTGCCTTAGAGTGCCATCAGAAATTGAGGTGTGACCTCCAGA AATGGAGGGTCTTCATTCTGTGCGTGCACGTGTCTGTCACATATATCACT GGCAGCAAAAGATGGGACTAAATCCGTTACTCTCTCCTGATTCTGGAGGA GAACTTAATCTACCTTGGCAGAGGAAAACTGATCAGGCCCCAGGAACTGT CCGCTAAAGCCACATCCCAGGATTTCCTGAGTCACAGCTGATGAATACTG GAGGGCAGCTTGACTCTTAAAGATCGTCTGCCCTTGAGCAAGGTGCCTGC TTCCCAGAGAAGTGAAAGCAGATGTCCCTGGCATCTTGCCTTCTCCCAAG GCACATGCAAGCCACATTCACACCCACCTGCACTACCCAGTCTACTTCCC CCAATAAACCCCTCCTGCCACTTCCAGAACTCCAATCTTCAACTGTGAGC AGCTATGGCACACTGAGTACTTAGGCTAGGGTCTGTTCTCCATGTCTTGG AGGCCTTTCTCATTTAATCCTTGACACCATCCTGCAATAAGGCTACTATT ACTATTCCTGTTTTATAGACGAGGAAACTGAGGCACAGGAGGATTAACTA GCCAGACATGCAGTCTGCAAGTCCAAGAGCTGGTATCAGAACTCCCGGCC TAGTCCTCTCTCCCTTTTTGACACATTGCAGAGAGACGGGAGAAAGATCT GGAAATGCCCTCTCTAGACTTGTCCTTCCTCCCTGAAACCCGTGGCCCGG GGCCTCTACCTGCGTGGATGAACTTGTCTGCCAACTTCTTCCGAGTGGAC TTGCTGAGGTTGAAGTAGTAGTCGTCGTCCTCGTCGATGCTCTCCAGGAA CAGCGGGATGTGCTGGAAGACGATGGCATGCTGGCAGTGCCGCTGCCTCG CGATGCTCAGCTGCTCGTCCAGCCACTGGTCCTGAGCCTGCTTCAGGCTG GGGCATTTGGAGGGGTTCTCGTAGAACTGGGAGTTGAGGACCAGGAACAG GACGCCCCCGACCCAGAAGCTGAAGTAGTCATCTCCCCAAGTCCGGCAGA ACTCCTCGACGGTCTCGGCCGTGGGGGTGTTGCCAATGTCATGGTTGCCG CTGACAAGGACCAGTGGGATGGCCCTGTCCACTGCCCTAAGCACTCGCTT CAGGTCCTCCGTCTGCTCCGTCCGCCACGGCTTCCCTGGAAGAGTGAGGG TCACGTCCTGAGAAAGCCAGGGGCTTATTCACTTGAAATAACTAACTTAA GTACTTACTAACATAAAATTTAAAAAAAGAGTAATCTGGAAATCCACTCC ACCTAGCACATGGAAACTGCAAAATGCAGTCACGTGCTAAAAGCAAACCA ACAAGTCCGACGGGGGCCTCTGCCCATCCTTCCCCAGGATACCTTAGAAA TTCCATGACTACATGGCCCCCTGCCCTATGTTGCTGAGTGATGGTGTGAA GTCAATCCTGAGATTAAATATTAGTGGACTGGGTACAGTGGCTCACACCT GTAATACCAACACTTGGGGAGGCTGAGGTGGGAGGGATCACTTGAGCCCA GGAATTATGAGACAAACCTGGGCACTACAGTGAGACCCTGTCTTCATAAA AAAGAAAATTAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTT AGGGAGGCCGAGGCACGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC CTGGACAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCT GGGCATGGGCACGGGCACCTGTAATCCCAGCTACTCGGCAGGGTGAGGCA GGAGAATCGCTTGAACTCGGGAGGCAGAGGTTGCAGTAAGCCAAGATCAC GCCATTGCACTCCAGCCTGGGCAACAAGAGCGAATCTCTGCCTTAGCCTC CCAAAGTGTTGGGATTACAGGCGTAAGCCACCGCGCCGGGCAGAACATGC GTTCTTTCACTGTTGAATACCAAGTTCCTCATATTTCTACTCAATCAAAC TCATTAATGGTGTGGTTCAAATTTTCTGTGTCATTATCCTTTTCTTTCGG CCTGTTGATGTATATTTGTTTCTGAGAGACTTGGTTAAGTTGTCGCTGTA ACTGTGGATTGATCTGTCTCTTTCTGTAATTCTGCCAAGGTTCACGTCAT TTACTTTTAGTTACATTGTTAGACGTGTAAGAGTTCAGAATTTCAATATC TCACTGCAATAGTTTTATATTTAACCCTAATGAAATAAATAAATATCAAG ATAAGAAACAGGCGATCTATATTAATGCTATGAGAAAATCTTTAATATAT AGTAAGTTAATAATATAAGGCACAGAGGAATAAAATCACACACAAATTTT TAAAAGCCTCACATGTATTCATGTATTATGGATAAAATGTCCCCCAAGAT TCAAAGAAAACTGTTAACTCTGGTTAAATCCAGGAAACAGAAGCAGAGAG GGAGGGAGTCTTACACTTGGTTTAAAACCCTTTATATTAGGTTGGTGCAA AAGTAATTGCAGTTTTTGCCACTGAAAGTAATGACAAAAATTGCAATTAC TTTTGCACCAACCTAAATACTTTCTTTCTTTCCCTGCCTCTCTCCCTTCC TTCCTTCCTTCCTTTCCTTTCTCCCTTCCTTTCCTTCCTCCCTTCCTTCT TTCCTTCCTCCCTTTTCCCAAGCTTATGTATAATTTTCACCGAAAAAAAA AAAAAAAAAAAACTCAAAGATTTTGACTCCATGGTTCTGGGGCTTAAAGA AGATTGAGGAAGCCAGCCAGGTGGCTGGAATGAATGTTTGGACTGGCAGC CCCAGGGCCAGCCTGGATCAACTCAGACCAGCCATGAGGCCAATGTGGAC TGCAGACAAACCCTAGCACCCCTGGAAGAGAGGACTCTCGGTCCCTGGAG CAGGCACGACCTGCTTCCACAGGAGGCTGAGCAGACTGGGCTTCAGACCC CAACTCCTGCTGCAGGGGTCAGCCAGCCTTTCCCGAGCCCATTCCACTGG TGTCCAGAGGTGAGAGGTGGCTGCACGGCCTGAAGCCTAGTGGAGGGAGC CTTAGGGAGAAGCAGGTTCTGCCTGCACCAGAAACCAGGAGGCCTCTCTC TCAGGGGTGCTGGGGGTTCATTCACCTACCGTCTGCATCGAAGGTGCCAT TGATTGACATTGCTTCTTTAGCCGAACCCGGACTGCAGGCATCTGTGCTG ACTTACATGATCCTCTCTAAGACTCCAGTGTCTGGTTCTTTTCCCATGCC AGTTTAGGAAAGACAAGTCCTTTGTAGCTTTGAACACAACAAACTCTCTC AAAGCGACCCTTGTGGTCCAAGGCTGATTCATTACCACTTTCCTCACTGG ATTTTCTCAAAGACCTCAAAGCCGCCCCTCTCACTTCTTCTTCTTTCTGT TCACACTGACTTGGGGATTTTGGGATATTCAATCACTGACAATACTTCTT AGCACTTCCTACAGGCCAGGCACTGTTCTCAGAGCTGTGTGTGCACCGAC TTGCTTCCTCTGGACACCCAGTGGAGGAGTGGGGATTTGAACTTGGTGGT CTGGCTCAAGGTGCTGTCTACAGTGTCCTGGTCACAAACTAAGGTCGTTG CTCTCAGGATGACTTCTCCTGGCTGCCCTGAGACACAGGATGAGGACTTT ATAATACACTGGGGTGCAGAGCATCTCCTGTTCTTGATTTTCAAAGTCAT TAAGTATGGCCCCTCACATGCTAACTGAGGCAGGTATGGAAAAATGTCCG AATCCCTAATGACCATAAACAGAAAAGTTAAGAAGGGGCAGTTCAAAAGA AAGGCTGACTTGGGAAGGAAACCTTGTCTAGGAAGCAACCAACAAGGAAG AGCTGGGAATTACACACAGTAATGTGATGTGTGTTTCCAAACAAAGAGGG ATGCTGCTTTTGGGGAAACCACCAATATCCCCCAGTAATCTGTTAAAAAA AAAACGCAGCTCATCTTCCCTAAATTTCCTTCAGCAAAAATGAGCCTCTT GGCAGGGCGTACTGATGCATGCCTATAATCCCAGCACTTTGGGAGGCCTA GGCGGGCAGACAACTTGAGGTCAAGAGTTCAACACCAACCTGGCCAACAT GGTGAAACCCCAACTCTGCTAAAAATAGAAAAATTACCCAGGCATGGTGG CATACACCTGTTGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGACCGTGCCACTGCACT CCAGCCTGGGCAACAGAGTGAGATTCTGTCTCAAAAAAATTATTTATTTA TTTATTGTTGGAAAAAAAAAAGATGAGCCTCTTTCTTGTGTAGCTTTTCC AACACTTTCTATACCTCTTGCATGGAGTCACAGGTGCTGAGGTGGAGTGA GTGTGCCCTGGGGTTGGTCTCTTGCCCCTTACAAGCTGCATGGCCTTAGG TAAGTCCCTTGGTTCCTCTGAGTCTTGGTTTCATCGTGTATGAAATGGGG ATGATAATTCCCATACCTCAGGAATGGCTGTAAGAATTCCTACTAAGATA ATGATGTCTAGAGTCTGGTACAAACAAGAATGCAAAGCTGTCAGCTGTCT GCTTTCCACATCCCATCCCCCTAAATGTAATAAATTCTTCCATTTTTATC AGCGACCCACTGTGTGTGCATAACAACCAGTAAATCGTTTCAGAAGGAAT GAAAATCTTCCCCAGGGACAGAAATAGTTTTTAGTTAAGAATCTGGAAAT AAAAGAGTAAATCCTAGATTACAAAAACCCAAGTTGAATGCCAACATTTG CATGATCTTTAACAAGCTCTCATTTGCATGTAACAGAATCTCTGTAGGGT TACGTACTATATTAACAACAACTTAGTATTAACAAAGATCATAGCACAAC TTAGCAGAGCTTCCTGAAAAATAGTCCCATTGTGGCTGGGTGCAGTGGCT CATGCCTGTACTCCCAGGACTTTGGGAGGCTGAGGCAGGAGGATCATTTG AGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGACAAAACCCCATCTCT ACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGGGCCTGTAATCCC AGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCCGGGAGGCAGA GGTTGCAGTGAGCCAATATCGCACTATTGCATTCCAGCCTGGGTGACAAG AGCAAAACTCTGTCTCAAAAATGTCCCATTATATATGAGAACCCAAAGCC CAAAGCCAACCTCACCAGCATCATGAACAGAAAAAACAGAAACCTGCCCA AGGACACAGAGCTTCAATGAGTTTCCTGTCTCACGCAGGGTTCTATGTTC ACAAAAAGAATGTATATAAAGGACAGGAAGAAAGGCAGGGAAACAAGGGG AAAGACTCTGAAAAATGGCAAGACATGACTCAGAAGAGGGGCAGAGAAGG ATTGTTCTGGGGTCTCCAAGGTGGATAAGAGGTATCTGCTGAGAAGTGGG TGCCAAGAGTACAGGGACCCCAATGTCAGCACACACCTGACCCCCACGGA GAGGAGCCCTGGGTGGGAATGGCGAGAGCAGTGTAGAAAGCTGCAAAGCG TTTAAAACACTTAAAAAAATTTTAATGCAATTGGTCAAAATAAAACTAGG AGGTAAAAAGCATGATAACGATAATTACAAAATTCTTATTTGTATCAGTG GTACTGTGAGAGGTATGATTTATTTTTGTCCATATTCATTAAGGCAGACA TTAGTATCTTGGTTGTTTTCCAAATAGCCTTAAAATACATTGTCTAATAA AATCTCTTTGTGAGTTAGGAAGAGAAATAAACATCCTTAACTGGATAAAG GACATCTGTAAACAAGTATAGCTATGATCATAGGTAATGGTGAAAGACTG ACTGCCTTCCTCCAAGATCAGGAACAAGACAAGGAAGTCTGCTCTCACAC TCTCACTGAACATCATACTAGAAATCCTAGCCAGTGCAATAGGCAGGCAG GCAGGCAGTCAGGGAAGGAAGGGAAGGAAGGGAAAGACGGGGGGAAGGAA GGGAAGGAAGGGAAGGAAGGGAAGGAAGGGAGGAAGGAAAGAAGGGAAGG AAGGCAAGGAAGGAAGGAAGGGAAGAGAAGAGAAGGAAGGAAGGGAAGGA AGGGAGGGAAGGAAAGGAAAGGGCATACAGATTAGAAAGAAAGAAATCAG TCAATTCTCAGAAGACTGTCTCCACAGAAAATCCCAAATAATCTACAAAA AACAAAAGAACAAAACATCAAAGACTCTTAGCACTAATAAGAGAAATTAG CTTGGATGCAAAGTAAATATATAAAAATCAACAGTATTTCTACATCCTAA CATAATATAAAAATTAGAGGTTTAACAAGAAGGATTTAAGAGATATTTGG GAGGTAGAACTGACAGGAATCCTCATTGTACTGGTTACAGGAAGGACTCA AAATTAATTCCCAGACATCTGAGCAACTGGGAGGCTGGTCATGTTGTTTA CTGTCAGGGAAAAGACTAGGAGAGAAATAGGTTACAGGTAGAAATCAAAA GGTCATTTTGAATATAAAATTTGATGTATTGTTACAGGCCAAAAAAAAAA AAAGGAGGGGGGGAACAGACAAATTGGACCTCATGAAAATGCAAAACGTT TGTGCATCAAAAGACACTATCAACAGAGAAAAAAGTGCAAACCACAGAAT GGGAGAAAATATTCTCAAATTAAATATCTGATAGGGAATGAATATCAGAG TATATGGAGAACTCCTAAAACTCAACAACCACTAAAACAACCTAACTCAA AAGTTGGCAAAGGATTGAACAGACATTTCTCCAAAGAGGATATATAAATG GCCAATAAGGACATTAAAAAGGTGCCCAACACGACTACTTATTAAAGAAA TGCAAATCAAAACCACAATGAGACGCCACTTCATACCCATGAGGATAGCT ACTATCAAAGAGACAGAAAATAACAGGTATTGGTGAGGATGTGGAGAAAA TGGAAACCTGGTGCATTGTTGATGGGAATGAAAAATGGTGTAGCCACTGT GGAAAACAATATGGTGGCTCCCCCAAAAATTAAACGTAGGATTACCAGAT AATCCAACAATTCTATATCTGAGTCCCCAAAATAACTGAAAGCAGGGTCT CAAAGAGATGTTTGTACACCTATGCTCACAGTAGCATTATTCACAATAGC TTAAACATGGAAGCAACCCAAATATCCACTGACAGATGAATGGATAAGCG AACTGTGGTATATCCATACAACGAAATATTATTCAACCATAATAAAGAAG GGAATTCTGACACATGCTACAACATGGATGAACCTTTAGGATATATGCTA AGTGAAATAAGTCATGCAGAAAAAACAAATACTGTTTGATGTCACTTATA TGAGGCACTTAGAGTGGTCAAATTCAGAGGCAGAAAGTAGAATGGTGGTT GCCAGGACTTTCAGGAGGGAAGGATGGTGAGTTATTGTTTAATGGGCACA GAGTTTCCATTTTGCAAGATAAAAAGAGCCATGGAGACAGATGGTGATGA TGGTTGCACAACAAATAGGAATATACTTCATGCCACTGAACGGTACACTT AAAATGGTTAAGGTGGTACATGTAACGTTACGTATATTCTGCCATGCTAA AAGAAAAGAGAAGAAACCACCAAAGTTATCAATATACTCATGATCCCTCC AGGTTGGGCTGTTGAGAGGGCAGCTGGGTCTAGGAGTCTGGAGTTCAGTG GAGGGTGGGGCTGGAAGCAGACACATTCACCATCATTCTAATAGGAGCCC CCATGATGGTGCCCTTGGGGTTGGCTTTTCAAGGGGATCCATAAGTGGGC TCCAGATTCAGAGGACCTGAGGTTGCTCTTTATTAGGGGTGTCCTCTGGG GATGTTGCCCTCTGAGCCTGTCTTCTAGACCCTAAAATGAAAATATTATC ACCTCCTTTATGGAAATTCTGTGAGATAAATGAGATCATGTATTTAAAGT GTCCAGTATGTAGTATGTGCATACCTTCCTTTCCCCTCTTTCTAACAGCC CCCTACCCAGGGAAGAGACAGGGGAGGAGGGAGGCAGGTCTCAGGTGTTC AGAGATCTCCCTCCCATTTTCCTCATTCTCAGGGAGCTTAGCCCCCAGTG CCGCTGCTACTGTCCCTGAGAAATGCAGGAAAGAACACACATGTCTGCAT GTTGACATCCTAGCCCAGAGCTCACGTTTACCTGACAACTCGTTTACTGT GGTGCCTGGAGGCCACACCTGTCCTGCAGACAGATGGATACATGGATGAG ACAGTGCTTAGGCCCTTGCACAGAAAGGGAAGCATGCCAAGGACAAGAAT TTCCAGAGACAGCCCTAAGAGGTCCCTGGAAACAGAGTCGATGGGGCTCC GTCCCTACCTGCAGGTTGGAAACGGAATAGTCAAGCCAGGGCATCAACTA TATGGTTAAGATCATAGCTCAGTAATTAAAACTCCTTTCAGGGGGCAAGT AGAACTCCTTTCAGGGGGGAATTGGAAATATCCATTTAAACTTTAATAAC TTCATGATATTGAGTGAGCCAGCAGTTCCATTTATCAGCCTTTATCCTAC AGACACATACACAAGTGTGCAAAACATAACTATTCCTTGTAGCAACAATT GAGAAGATATAAACATTTAAATTGGCTTAAATGTTTATTAATAAGGAATA GATAATATGTATAGAGTAATAAACAGGCATCACAAAGAATGAAGGAGATC CGAATTTAGTGGCCACGGATATATAGAAAAGGTGCACTGTTAAGGTTTGG GGAGCAAGGGTTGGCTGGCAGTGGGGGACAGTAAGTGAAAACAGGAAGTT ATTAGAGCTAGTAGTACGACACAATTTTATTAAAAATAAATCTACGAGTT GGTATATTCAGAGATAAAAATATCTAGAAAAACATGGCAAAACTGTTAAT AGTACCTGTCTGTGGGGAAGTGGAAGGACAGAAAACATTTCAGTTTCCTG AAAAACTTAATTTTTTATGAGCATAAGTTACTTTCATTATAGAAAAATAA TCAAGACATTAAAAAATCACAGATGCACTAAAATTAGATCTTGTTAAGTA AACAAGTATACATTTAAATAAAATGGGAACAAATGTAAAACAAGTGACAA GGCCAATTGTGTAAGTACTGTTCTTTACTCTCAGAAAGAGAGAAAATGGG GAAAAGAGAGTACCAGAAAGGTATTTCGAAATAAGTTCTTAAAAAAAAAA ATCGCAGTGGGTAAATTCAATTTAAAAAAATGTATAAAAAATTGTGCTCA GGACGAATTGTGTTCTTTCTGAATCTGAATAATTACATTTTCAAAAAGAG AGTTTTCTTCTAGAGCAGATGACTTTAAACGTCAACACCTAGTGAGTATC AGAGGCAGCACAATGTCTCTGCTACTATTTTGATATCTGAATGAAATAGC ATCAAAGGAGAAGGTGGTTGTCCTGGTCTTTTAAATCTAGTTTCTTCTTT TTTATTTTTTATTTTTTTTGAGATGGAGTCTCGCTCTGTCACGCAGGCTG GAGTGCAGTGGCGCAATCTCGGCTTGCTGCAATCTCTGCCTCCTGGGTTC ATGCGATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCATGT GCCACAACACCCAGCCAATTTTTGTACTTTTAGTAGAGACGGGGTTTCAT CATACTGGCCAGTCTTGAACTCCTGATCTCAGGTGATCTGCCTGCCTCAG CCTCTTAAAGTGCTAGAATTACAGGTGTGAGCCACCACACCTGGCTATAA ATCTCGTTTCTTCAATCTTACTAAAATATGATATGTGTTTCTCAATTTTT TTTTCATTATTGCTGCCCCCAGGAGACCCAAAATTAGACTTTTTCCTAAT CTCCCCTCCACTAATAACAGCTTGAGATATAAATACACAAACAATATAAT TCATCCTCTGAAGGTATGTTTTTAGAATATTCAAAGAGTTGTGGACTGTC ATGAAAATCAATTGTGGGACATTCTCACCACCCCAAAATGAACTTTCACC CATTAGCAGCCCTTCCCCATTGCCCCCCAACTCCCACCACCCTAATTCTA AGCAATCACTAATCTACCTTCTATAGATTTCTCCACTCCAGGCATTTCAT AGAAATAGAATCATATAAAATGTAGGCTTTTGTTACTGATCTTTCACTTT GCATGATGTTTTCAAGGTTCATCTATTTTGTAGCCTATGTTAGTGCTTCA TTCTTTAATTGCTGAATACTATTCTACTGTATGAATATATCATCATATTT TGTTTATCCATTCATCTACTGATGGACGTTTGGGTTGTTTCTACTTTCTG GCTATTATGAATTATGCTGCTATAAAAATCCACGTGCAAGTTTTTCACAT GTGAAAAGATGTGTGGATATCTTTCATCTCTCTTGAGTGTATACCTAGGA GTGAAACTCTGAGTTACATGGTAACTATATGTGTTTACTTCTTTAAGAAG CTAGCAGACTGTCTTCCAAAGCACCATCCTACATTCCTACCAGCAATGTA TGAGGGTCCCAATGTTTCCACATCCTCAACACTTGTTATTTTTCACCCTT TTAATTGTAGCCATCTTAGTAGGTGTGAGGTAAAATTTCATTGTGGTTTC TATTTGCATTTACATAATGACTAATGATGCTAAACATTTGTTGTTGTGCT TACTGGCAATTTTTATATCTTCTTTGGAGAAATGTCTATTCAGATACTTT GCCCATTTTTCAGTTGGGTTATTTGTCTTTTCATTATTAATATTTAGTTG TAAGAGTTCTTTACATATTATGAATACCAGATCTTTATCAGATACAGGAT TTGCAAGTATTCCCTCCCATTTGGTGGGCTGTCTTTTCACTTTTTTGATA ATGTCCTTTGAGGTACAAAATATTCAAGTTTCATAAAGTCCAATTTATCT ATTTTCTGTTTTGTCACCTGTGCTTTTAGCGTTATATCTAAGAAATCACT TTCCAATAGAGGATCACAAAGATTTCTGCCTATGCTTTCTTCTAACAGTT TTCTAGTTTTAGCTCTTCTTTGGGCTTTGATCCATTTTGAGTTCATTTTT TTTTTTAATATGGTGTGAGGTAGGGGTCCAAATTCACTCTTTTGCATGTG GATATCCAGATGTCCCTGCACCATTTGTTGAAAAGACTACCCTTTCCCCA TTGAATTGTCTTGGCGCCCTTGTCAAAAATCCATTGACCCTAAATGTGAG GATTTCTGGATTCTCAATTCTAATCCATTAATCTCTATGTTTATCTTCAT GCCAGTACCATAGTGTTTTGATGACTGCAGGCTTCTAGTAAGTTTGAAAT CAGAAACTGTGAGTCTTCCAACTTTATTCTTCCTTTTCAAGGTTGTTTTC GCTATTCTGGGCCCACATAATTTTCATATAAAATTTAGGATCAGCTTGTG GTAACTGTGTAATCAAGGAGAAATAAGATCAAGGTCCAACACTTAAGCAG CTTATAGCTTTTAGGCTGGGTGTGGAGGCTCACGTCTGTAATCCCAGCAC TCTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACT	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01978.hp1 HG01978.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0181 a0011c0019t0001g0181	1	290	0.0035	-17548	c.290 others(18): Show c.290-10414_715+6708del		CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	3/4					chr16	TogoVar
CPT1B_chr22_50563861_50583427	50574491	A A	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	414	0.0024	0	c.885 others(5): Show c.885+2T>G		CPT1B	ENSG00000205560.13	transcript	ENST00000312108.12	protein_coding	8/19					chr22	TogoVar
CPT1B_chr22_50563861_50583427	50574492	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	414	0.0024	0	c.885 others(5): Show c.885+1G>A		CPT1B	ENSG00000205560.13	transcript	ENST00000312108.12	protein_coding	8/19					chr22	TogoVar
CPVL_chr7_28990235_29151537	29029404	GTGTCCAT others(10905): Show GTGTCCATCAACAGATGAATGGATTTTAAAAATGTGGCATATACACACAA TGGAATATTACTAAGCCATAAAAAAGAATGAAATCCTATCACTTGCAGTG ACATGGATGGAACTGGAGGTCGTTATGTTAAAGGAAATAAGCCAGGCAAA GAAAGACAAATATCGTATGTTCTCACTCACATGTGGGAGCGTAAAAAGTT AATTTCATGGAGGTAGAGAATAGAATGATAGTTACCAGAGGCTGGGAAGT GGGGATGGGTGGGAAGACGAAGAGAGATTGGTTAAGGGGTGCAGACAGTT AGATAGAAGGAATAAATTCTAGTGTTCAATAGCACAGTAGGGTGACTATA GTTAAGAACGATATATTGTATATTTCAAAATGGCTAGAAGAGATTTGAAA TGTTCCCAATATAATGAAATGATACATGTTTGAGGTGATGGATATCCTAA ATACCCTGATTTGGTCATTAACATTAAATACATGTATCAAAATATTACAT GTATTCTATAAAGATGTACACTTACATATCGACAACAACAACAAAACCCT TCCCTCAAACAAATCTCCAAGCCCAGATGGCTTCACCAGTGAATTCTCCT AACACTTAAAGATACCGTTTCCAACAACAGAAAGAGGAAACACTTCCCAA CTTATTTTATGAGGCCAGTATAACCATGATTCCAACACTTGAAGAGGACA TTGCAAGAAAGGAAGATGATGAGAGTAACATCTGACCCCGCAGTGGAAGT TGCACTAGGGTGTCAGCTAGAGAGATTTTGTCCTGAGGCTCCACATGTAA TATAAAAATGTGATCATACATTTGCCAGAGGAGATTGTGTTGAAACTTCC TTTATAATTTGCCAAGTTCTCTCCCCAAATAGACTGCAATTCTCTCATTA ATGATTTGCCTCTTTGGACTGAGCACTGTCTTTTTAATGAATTGTCTCCT TACCTCTTGAACAATGCCTAAACTTTTGTCTGGTTTTATATTTAGTCCTA TGTATGTCTGAACTCAGACCACTCTTCTCTGTGGAAAGTAGGGCCACAGA AGACACACACTGGCTGTTGTATGGCTTTGCTTAAGGTCGGCCATGTCTCA TTGCTATTCAGGCTTTATTTTCAATCCCGCTCTCCCATTCCCACAACCTG CCTGCTCCCAAGCATCTTCCTACCTGATGGAAGTCACCCGCTTGCCGGAT GTAACCAGCCACTTCACTGTCAGATTTAAAGATCTTCCAAACTTTTTTTT CTGCCTTCTTGTATTCCTGGGATCCTTTCCAGTCCATGCCCATCAAGGAG CGCTCTGTCAGGGCAGCTGCCACGATGATGTCCAGTTGGCCATTGTAGAT CAGAACCTGAAATGAAATCAAGCCATCAGCAAATGCAAGATTCAGGAGGT GAAGCTCATGAATCGAGCTAGGTATAAATAGTGAGCCAGTGAGAGAGAAA AAGAGACATGAATCTCTCTGAGATTTTCTTCTAGTTAGCCATAAAGAATA ACAATCCGAAATAAACTCAAGCCTTGTCTCTACCACTGAATTCTTCATAG TAATCTGCATAAAGGCCTCTCTTGGTTGCAAAAACATTTGTGTTGTATTA CTCAGTGATACATATATACAGGTTTTACTTGGACTTATGGCTATGTTAAG AAGGAAGACTGTGGTTACATTTTAGTGGAACTAAGGAATACTACCCCCTA GGATTTTCATGAAGCCTGCATTTCATTAACTTCAACTTCAGGCAGTGCAG TCGCTGGCAAGCTGAGCTTTCTCTTGGGTATTGCTAATCCATATTGCTCT CCTCTCCTACATTGATTTCAGTAGCAAGTATAATTTTTTTGCAGCAGCAG ACAGAGAGATTCAGGTGCCTCAAATTTGTTTCTTATTGGAAGCAACTATG CCTGCCATGCCACTTGCAAAACTTCCTTTTTAAAAATATGATAGCTGCTT GTCAACAGTGAGGAATGTTCTTTCTTCCTAGAATACAATTTTTTGTATGT GTCAAACTGATGTTTATCATAGGAAAAACAACACTGAGGTAACTCTTTTC ATTAATCCTAAAGCAATTTTCAATTTGCTTGAAAAAATAATTCAGATAAT TCCCAATTCTGATAAAGTTGTAGAACTAATGGGGACAGTATAAAATGGCT CTTCTTTTCAGAAAATCAGTAGCCAATTTTCTGCCCCCAAACTTAAAAAT GTTGAAATTCCTTGTCCCAGTAATTTCAACTTGTAGAATATATTCTAGGA AAACAGGTCCAAAGAAATTTTAAAAAATTATATATATTCATTGAGTCTTA TAATGAAAAACTCAAACACAATCCAGAAGTCCTATAATTGAGTAGGTAAA TGCACAACAGTATAAGAATTCTATAGGATATTATAAGACCATTTAAAATG TTTCATTGAACCATGATGCAATGTGGGAAATACTTATCACATAATGTTAA GTATGAAAGCAGAAAGTCAAGTATAATGTATATCACAACTATAACTATAA AAATCAATGTACATATTCACATATATGGAATACAAAGTTTGAAAAATGTT AATATTTAGATGGTGGAAATCTGAGTAATATACTCTCCTTTTTTTCTACT CTTACGCTACTTTTATGCAACTAACATATTAATTATCATAAAGTATTGCC ACTCCACCTCCAACAAAGAGGTCGGCCTCAACTCCATGCTACTTTTGATC TATTTGAAGGCTCTGATTTGGCCCGAGTGGAGACCTTTGGTTGAATCCTC AAATTGGATATAAAATATTTCACTGCATAAGTTTCCGTCTTTCCCTTTAC GGTGCGGGTTCTTAAAAGGCTCAAACATAATTAAAAAGCCCAGGACTTTT ACACACTCCAAATCCTCAAGCAGCAGTGGGACAGCAGTCAGACTAAGATG AAAGAGCCCTGGGCCCCCACTGCAGGAACACGGGGCCTTTCATGTTACTC AGTCACCATCACCACCCCCACTCTCCTAAGAAGAAACCCACAGGAAAATC CTGATAGATTTAAAGCCTGTTAAAAAAATTCAACTGAACTCCAGTAATAA AATATTTGCATTGTTTATATAGAGAAATTACCTCAAAGACCTTGAGTACT CATGGCCTCTGCAAAACCTCCTATAGTTGTTTTGGCCAACAGTATGGAAA CAATTATATATGATTAGTACCAGTGAACAAGACTTAATTACTTCACCATT CTACGAAGACCTGATTATAGCTGATTAGCAAAGATCATCAAGCATAAAGT GATTCTTCTTCTAGAATTCAGTGTAAAAGATGCTGATCAATCAGCAAATT CATAGTGCATCCATTTAATTTTACTCTCCATGGCCACTACAGGCAGCTTG CATCTCTCATGTGTCTCCCACAGCTTTCTTTACTGACAATCATTACTATA TTTTGAAATCAATGTGATGTTTTTTTCATCCTTAAGGGACAATAGCAAAG TCCCCATGTTACAGCAAAAACACATTTATATGTACAGCATTATATTACAT GTTGAACTGACATGGAATGAGGACCATCCCTGAGTTGTTAGTCAAGACTT ATCTTGTTAGTCAAGACTTATCATAACAAGAGCACCAACTCTCTGGACCA AGAAACAGCAAAGAGCTGAATTGCACAATCTCGCACAGGCAATGTGTAGA AGGTCTACTTTTGGGTACAAATGGAAATCCTTCCTTTGCAAAGCAAGGAA ACCATTTTGTATTTCTGAAGGGCACATAAGTCAAATGCAACAAAAAAGAA ATCAGAATAACGATCATGAGAAGTGATTTCAAAGGCAGGCCAGCATTAAA TATAAGAATTCCAGAGCTCTTATTTGCACCTAAATGTCACATTTACTCTC ATGAGCCCCTATAGGAATATCCCAGTTAGGTGCCTCTAGGCTGGGTGAGT GGATGAGATAGCCTAGGACCCAGTGGCTGAGCATGAGAAGCAGGTGGGCA CGGCATAGGGGTGGTCCTGAAGCCCAAGGGCACACGCTGGCTACCCACAT CCTGATAGAAAAGTTCCAGGGAGGAACTTAGCTCTGACAAGGACAGGTTG GCCAAATATGTCTACACACTCATCCCACTTCTCCCCCGGTAGGGTGACCA ACTGTCCCAGTTTGCCCTGGACAGGAGTTGCCCAGCAAGACATGCAGTGC TAAAACTGGGACACTCTGGAGCAAACTTACCCCTAAGGCTTGCTGGTATT TTAAGCAACAAGGTCTAAAGACAGAAGGGAGGAGACAGAGATGAATGCAG CTTTTAGCTACACTTCCCTTGTCAATAGTGATTGGAACAAAACAAGGAAC AAGGAAAGAGCTGGTTGGAGTTGGTCTCCAGCGACGTACTAGGCAGTGCC CTGAACATGCATTTCCTCACTTTCCTTTCTGGTCAGCTGTAGGCCTCTGG TAAGGGAGCAAAGCCACTGCTTTTAGAGACTTCTTTTACTCCTTAGAGGG CTGGCTGCTTAGCTTAGTGAAACTGATGGTTATGCAATGTCACAGAAAAA TGCTTATCTTATGAAAAAAATCAATGAAAAACTGAGACTTCACTTGTTTG TACTCTAATTATCACATATTTAAAAATGCTTCAAACCTGGGGAAAGAACA AATCAAAATACAGTTATTTGAGCTATGGTTGATTTATTTTAGATTGGCTA TCTTCTAGGTTTCTGTTTTGTTTTGTTTTTGGCAAATGTGGTTACAATCC TTTTTTTAAATTTTTTTTAAGAGACAGTCTCACTATGTTCCCCTAAGCTG GAGTGCAATGGCACAATCTTGGCTCACTGCAACCTCCAACTGCTGGACTC AAGCCATCCTCCCATCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCAT GCCACTACACCCAGCTAATTTTTTTGTATATTTTGTAGAGACGGGGTTTC GCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCTGCCC ACCTCAGCTTCCTTCCCAAAATGCTGGGATTACAGGTATGATCCACCGCA CCTGGCCATAGAATGCTTTTTATTTATTGATTTATTTTTCTTCAACTTTT AAGTTCAGGGGTATATGTGCAGGTTTGTTACATAGGTCAATGTGTGCCAT GGTGGTTTGCTGTACAGATCATCTCATCACCTAGGTATTAAGCCCAGCAT CCATTACCTCCCTCCCCCTGCACCCTCCTGACAGGCCCCAGTATGTGTTG TTCCCCCCATGTGTCCATGTGTTCTCATCGTTTTTTACAAAATAATTCTT TAAAAAGTTTAATTAATTAATTAATTTAGAGACCAGGTTATGAGACTGGC TATTTTTCGTATTTTTGGTAGAGACAGGGTATCACCATGTTGCCAAGGCT GCTCTCAAACTTCTGGGCTCAAGTGATCTACCTGCCTCCTTAAAGTGCTG GGATTACAGGCATGAGCCACTGCACCCAGCCTAGAATGCTTTTATAATGG AAAAAAAAAAAAAAAAGAACAATAATGCTATGAGGTTGGATACCTCAGTT TGGCAAAAGATGAGTCTTTTGGAGAAATAATTTGTAAGAATTCAAATACT ACCATACCAGCTCTCATTTTTTTTTTCATGACAACTAGGTAAAAAGCTTA ATTTTAATTCATAGACAGTCTTTAAAAACTCATTCCAGAATTCAAGCCTT TCCAAGAGACGGCATTTGGTGACTTGGACCACAAGCATCTTTTTCTTCCT CTTTGTCAAAAGGCAGAGATGAGAAAAGCATCTTTATTATTATTAATTCT TTCTTGCTTTTCAACCTGCTTTCATGTGCATAGAGCTTTATTCTTGTACT GCTTCACAAGGTCAGGAACAGAAGTGTTCCACTGTCCGCCTCCACTTTAC TGTTATGGAAACTGTGATACTGTGAGGCAACAGAATGAGTCCTAGATCCC GACTTCCACCCTTCTACCTAAAATTTTTCCTTAAGAAAAGAGCTAAAGTT CCTTCAAACCAACAAGCATTTATTGACTCCCTGCAGCTAACCATTTAGTG CTACCAAAAGCTGCTGGAAACTGAGAGTTAGTTGCATATGAGACACAGTT CACATCTCCGGTTCAGAAACAATCTTGCTCTGTTTGTCTGGCCCTGGTGA CATCTCTTAGTCACCTCTCACTTTGGCTCTATGGACAGGATGTGTGTGAG GGCATTACTCACAGTTGGTGGGGAGTGGCCTTGCTAAACCGCTGTGAAAT ACCAGCAGTGCCTTAAAAACAGGAGCTCCCGAGTGCGTGCTACATCCCCA GGCCTTGCACAGTGCCTGGTACCCCATAAAACCGATGGACAATTACAGGG TATGGATTCTGCTCTTTAATGGTTTCATGTGGTGCTGTATAGTGACCATC TGCTGCTTTTGCATGCCCAGGTCCACTCTCCCTTCTCCTGGAAACTGTAC TTTGTGGGTCACCCACACCTTCAGTGGATACAGCCCTGGTGGGAGTTGTC AATCACAGTGTCCTGCCTCCTCTGGCAAAGGATAAGCACATTACCTAAGT AAAGGCACTCAAATGCTCTTTCCCTGGAATTGGAATCATGGGCAGAGGAC ACAGAGTTCATTGATAAGTCTACTCATTAGTTTTGCTTCCTAGATCCCTA GAATTTTCCCCAATCTGCTGTTCTTTCTTCACCCCACTTCTTCAGTTTTT CCATGAATTCTAAGACCTATCCTGTCTTCCAATCAATTCCATTCATGCTT CAAGTAAGCAGAGTTATTTCTGTCACTGAAACCATGAAATCCAAACTCAT ACACCTTCGGACCAGTGCAGTGCATGCCAACACACCATAACTGGAACTCG TAGACATGTGGGTGAACTTCCAAGAGCTTCAGCCCCTTTTCTGGACATGA GGATGCGACGAACTATACAGAATTGTAACGAGAACTAATGAGACCATGTA CACAAAGTTCCCAGCACAGTGCCTGACACAGAATAAGAGGTCAGTGAGTA TTAGGTCCTCCTCCTTCTCAAGCAAGTTGATCATCTGATAATGATTGGAG AGACTCGACACAGCACTTCTTCTAAATAAACCTTCAGAATATAGGGATGG TCTTTCTGTGTCAAATACTTGGTTGTCAATCTCACTCTTTCAGAAAAAGG CCGACTGTAGGAAGAAATCCAGCCAGGATAAACCTGAACTCTATATATAT TCAAGCTCTCGAAATAATAACACACCCTTGACTACTAATTTTGCATGCAT TGGCCACTGCATCTCAGTCTTTTCTTGAAAGTTAGAGCCATAAATTCATG TATTACTCTTTTAAAGGAACTTCTAATTCTGAAGCCTGGAATTCAAAATC ACATGGAATTCCCCCACACTTAAATGCTAGAAAAGTGTGGTAAAGACTAT GGCTTTTAAAAGGAAGTTTTTGAGTAATAATAAGACTCTCTTGTTGTTTT TCTTATTATGTTCCAGGAACTGTGCTAAGCATTTTACAGCATTCTCAGAA GGCAGGTGTTATTTATCCCATTTTAGGCACAAGGAGGCAGAGGTGTAAGG AGGTAAGTCAGTGTACCATGATCCCCCAACAGGTGACTGAAATTCAAGTT CAGATCGACCTGAGCCCAAACTGTGTGCTTCTAAGTGCTCTTCCACATTG CCTCACTACTGTCTAAGGTCACTAACCTCCATAAGAACACATTGAACAGG TGCTTTATTCTATATTTGTAATTCCACAAGCAAGTGGCAAACCTAAAGTG TGACTCTTTGACATTAAGGATATATGTTTATAGTTATGTGCATAAACTCT ATGGCTGGGTTTGAATCTGACCCCTGCCACTAACTGGCAGTATTATCTTA ATTGAGTTAGCCCATCTAGAGCTCAGTTTCTTCATCTGCACAATGGGTAT AAGAAAAGTGGCCAGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTG GGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATGGAGACCATCCTGG CTAACACGGTGAAACCCCGTCTCTACTAAAATAAATACAAAAAAAAAAAA TTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGC GATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCA AAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGCACATATGAATCGGG AGTATTTATGAAACATGATGCATGTGAAGCATGATAAAGTACACAACGGT ACAACAATTTCCAAATGAAATGTTACCTATGGATTAGAATTGTGACTTAG GATGGAGGAGTTAGAACTCCATAAATAACTGCACCAGGCACGCCACTGAC TGGACAGAACTAACAGCAGAAGCTTATAAAAGTAGCCGACACTTTCAGAC AGAAGTCTTGACCTCTGGCCCTGCCTCAGCCCCGCAAGACCTGTGCTCAC TGAGTGATCTTGGATATGTCATCTACTCACTCTGAGCTTTAATTTTCTCC TCTAAATAGTGGAAATAGCTACATCCCACAGCTGTCAGGAGGGCAAATAG GATACCAAACCTAAAGATTTCCTATAACTTGAAGAGCAGGTTTTACCAAT GTTTTTATTGCTCTTTATCAAAGATAAACTAAAAAATAAATTCCTATACT GGAGTGCAGAGGTCTTAAGTTGGCTGTGTGAGGCTTGCATTCAGCATGCA GATGTATTTGGTTAGTCCAAATGGTGTTGTTGTAACTGTTTTTCCATTTA GATGCCAGTGTTATGGACCAAATGTTTGTATCCTCCCAAAACTCAAATGT GGAAAACCTAACAGCCAAAGTGATGGTGTTAGGAGATGGGGCCTTTGGAG GGTGATTAGGGGATAAGAGCAGAGCCCTCATGAATGGAATTAGTGCCCCT ACAAAAGAGACCTCAGAGAGCTCTCTATTACTCTTTCCACCATGTGAGGA TACAAAAAGAGGTCAGTAGTCTGCAACCCAGGAGATCCTCACCAGAACTG ATCATGCTGGTAATCTCATCTCAGATTTCCAGCTTCCAGAACTGTAAGAA ACAATTTTTTCTTGTTTTTAAGCCCTTAGTCTATGTTACTATGTTACAGC AGCCTGAACTAAGACAGTCAGCATTTAAATATTCGGAGATCTGACCAGGC TGGGCCTGTATTTCCTCTCAGCCACAATGAGCTAACACTTTGCGGAGCTG TAACCCTGAGGCACACCCCCACCCCTGCCCTGGTATCCTCACACACACAG GCACAGGGTGGTTGTCATTTATTCAATGCTTATGCTACTGTTTTTCTTAG AAGAGAAAAATATTCTCTGTATCCATACCTCTGTCATGGGTAAAAAAGAT CAGTAGGTCTCAATCCAACACTATCCATTTATTTCACTTCCTTCCTGGAT TTGCAGGTGGTTAAGTGTTCCCTCCATCTGAAATGGAAGGGAAGTGGCCT TTTGTCTGAGTTGGAGAAGAGGGCATGCTCACTTGTGTATGTAGTGTGTT TTGTTTGTTTTTTAGTTTACTCATATGAGATCTCTGCCTATTCAACAGAC ACGTTTATGGAGAGACTAAGGACTAAGTACCATGGGAACAGGTATGGAAA GCTGTGACCCCTGTCTTTCAAATGCTTCAGATTTTTTTTTAACTTTTCAA AGCAGTGAATACTCAGAAAAGGAAAGGGAAATTTATGCTTTCATTCTTTA AGTTTTCCTTAGAAGAGGGGCCAAGAAAAGTCAGTTTCACTTAAACCTTT CTAAAATGCTAGTCCTTTTAACAATTCAAATCATAAATTGAATTTCAGGT TCTAGATGCACATAAATCAGCAGTTTATTCATGAGTTTAACTATCTCAGC AAGAAAACCTTCTCCTAGTAAAGACCTAATGAACAGAATCAGATGAGAAT TAACCCTTATTTTAAATAGAGTATGCCTCTGAGGGGTAAATAATTTAAGG CAGATATAAAGCAACCATTTTAGCCAAAGATACCTGCAGAAGAGTACGTT TACAGACACCTAGAAAGATTCCACACTCTATAAGCACAGATTTTCACTTA AAATTTAAGTCAGGCAGTGCCATGATGATAATCAGAGGTGAAAAAAGAAC TCTGTGCTTTTAATACAGCCTGAGAGATTAGAGACAGAAATGTATATAAG TGTGCATTTTAGTTTATTTTCATTGTTGCTAGCATGAAAGGCTAAGACTG AAAATAAATCATGTGAGGTCCACTTACTGTTCTAAACTTTAACCATTTTT TGTTGTGGTTAAAAAAAAAAAGCACACATGTTACTGACAGAGAACACAAA ACTTTTCTCTTTATTCCCTGCTTACAGCTCTTACTTATTAGGAAAATTAC AGAAATACCAGAGAAGGAGGCTTTGGTATCTCAGCACAACAGGAAAGCAA ATTGTGCTTTTGTGAGAAGGATGGATTTTTGTTGTTGCATTTTTAGACGA AAGATTTATGCTTATATTCTGGTCCATTTACAATATATCATAATACTTTG CAGACAAAGTTATGCTTTTTTCCCAATGATCTAGTGACCTTAATCTCTAA CATTCTGTGGTTTCCTGTTTGGGGAAATGATTGAACAGCAGCCTAAGCTA TTCCAGGCTGCACAGCATTCCCAGTTGGCCTCTATCTGTCTTAGTTTTGA ATGTTCTCCTGTTCACTAATCCAAAAAAAAAATTCTTTTTTAAGGGAATT TTCCCTACAGATGCTAAATCAATGAAACTCCTGCAAATCAGCCCTCCAAA CTTCCTCTTCTGGCTGCTTTACTTATCATTCTTCTATTACAAACTCTAAT GTGGCCAGGAGTTCTTTTGGACTGAAGCAATTAGCATGTCCCACCAGTGC CTTCCCCCTAAGCAGAAAAGAATTAATTTCACTATTATCCAGCTCAACAA ACAATAATTCCCA	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG02129.hp2 HG02129.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0207 a0010c0017t0001g0207	1	282	0.0036	-10912	c.113 others(19): Show c.1138-9557_1320+1172del		CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/13					chr7	TogoVar
CRISP1_chr6_49829257_49871535	49866427	A A	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0256 a0001c0001t0011g0256	1	378	0.0027	0	c.-3+ others(4): Show c.-3+2T>A		CRISP1	ENSG00000124812.15	transcript	ENST00000335847.9	protein_coding	1/7					chr6	TogoVar
CRLF2_chrX_1185490_1217649	1212554	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	167	0.0060	1	c.79+ others(5): Show c.79+1dupG		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7					chrX	TogoVar
CROCC2_chr2_240901336_240998311	240932910	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00741.hp2 HG01069.hp1 HG01071.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0183	3	350	0.0086	0	c.125 others(6): Show c.1251+2T>C		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	9/31					chr2	TogoVar
CRYGN_chr7_151423832_151445141	151436179	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	452	0.0022	0	c.416 others(5): Show c.416+1G>A		CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding	3/3					chr7	TogoVar
CSF2RA_chrX_1263814_1314935	1282777	C C	CG CG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19062.hp1 NA19062.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0010 a0012c0011t0010	a0012c0011t0010g0054 a0012c0011t0010g0054	1	159	0.0063	1	c.76+ others(5): Show c.76+1dupG		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12				INFO_REALIGN_3_PRIME	chrX	TogoVar
CSH2_chr17_63867016_63878677	63872834	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	410	0.0024	0	c.291 others(5): Show c.291+1G>A		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding	3/4					chr17	TogoVar
CSK_chr15_74777080_74808197	74782719	AGGTGAGT others(40): Show AGGTGAGTGCCTGGCCGTCCCGGAGTGTCCCCTGGAGGGAAGAGGGTG	A A	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0052 a0001c0001t0009g0052	1	394	0.0025	-47	c.-66 others(59): Show c.-66+1_-66+47delGTGAGTGCCTGGCCGTCCCGGAGTGTCCCCTGG AGGGAAGAGGGTGG		CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12				INFO_REALIGN_3_PRIME	chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64355987	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	176	0.0057	0	c.-22 others(6): Show c.-225+1G>A		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11					chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1979404	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0337 a0005c0010t0001g0337	1	382	0.0026	0	c.853 others(5): Show c.853+1G>C		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	8/11					chr19	TogoVar
CSPG5_chr3_47557238_47583865	47569151	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	362	0.0028	0	c.145 others(6): Show c.1458+1G>T		CSPG5	ENSG00000114646.10	transcript	ENST00000264723.9	protein_coding	4/4					chr3	TogoVar
CSTL1_chr20_23434685_23449930	23444046	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18953.hp1 NA18954.hp1 NA18966.hp1 others(1): Show NA18953.hp1 NA18954.hp1 NA18966.hp1 NA19006.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0019	4	452	0.0089	0	c.330 others(5): Show c.330+2T>C		CSTL1	ENSG00000125823.13	transcript	ENST00000347397.5	protein_coding	3/3					chr20	TogoVar
CT45A7_chrX_135824229_135842280	135831195	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01175.hp1 HG01175.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0019 a0005c0005t0005g0019	1	19	0.0526	1	c.418 others(6): Show c.418+1dupG		CT45A7	ENSG00000273696.5	transcript	ENST00000610598.5	protein_coding	3/4					chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975066	A A	AC AC	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0020 a0006c0011t0004g0020	1	201	0.0050	1	c.742 others(6): Show c.742+1dupG		CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/2					chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975067	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	201	0.0050	0	c.742 others(5): Show c.742+1G>A		CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/2					chrX	TogoVar
CTH_chr1_70406268_70444851	70435178	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0110	1	424	0.0024	0	c.105 others(6): Show c.1052+1G>A		CTH	ENSG00000116761.12	transcript	ENST00000370938.8	protein_coding	10/11					chr1	TogoVar

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Search Results (Total: 1035 hits)