Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C22orf42_chr22_32144006_32164303	32146656	C C	CTATATTA others(46): Show CTATATTATATATTATATATATTTATATGTATATATTATATATATTTATA TGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp2 others(19): Show HG00099.hp1 HG00639.hp1 HG00738.hp2 HG01496.hp2 HG01891.hp2 HG01981.hp2 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03209.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0007 a0002c0002 a0002c0004 a0002c0007	a0002c0002t0002 a0002c0004t0003 a0002c0007t0002 a0002c0002t0002 a0002c0004t0003 a0002c0007t0002	a0002c0002t0002g0019 a0002c0002t0002g0030 a0002c0002t0002g0091 others(6): Show a0002c0002t0002g0019 a0002c0002t0002g0030 a0002c0002t0002g0091 a0002c0004t0003g0008 a0002c0004t0003g0027 a0002c0007t0002g0012 a0002c0007t0002g0026 a0002c0007t0002g0049 a0002c0007t0002g0050	22	398	0.0553	53	c.28 others(64): Show c.2883_*2884insTACATATAAATATATATAATATATACATATAAAT ATATATAATATATAATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2349		chr22	TogoVar
C3_chr19_6672704_6725650	6718926	A A	AGGGGTGG others(46): Show AGGGGTGGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGAGTCTCA GAAG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0069 a0003c0069	a0003c0069t0001 a0003c0069t0001	a0003c0069t0001g0206 a0003c0069t0001g0206	1	370	0.0027	53	c.267 others(68): Show c.267+284_267+285insCTTCTGAGACTCCTCCCCTTCTGAGTCCCT CCCTTCCCTGAGACCCCCACCCC	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	2/40			chr19	TogoVar
C7orf50_chr7_992006_1143247	1115461	T T	TCATCACC others(46): Show TCATCACCAACGCCCACGCAGGATGACATAACTACAGCTCTACGGACCGG CTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02080.hp2 NA18973.hp2 HG00558.hp2 HG02080.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0285	3	326	0.0092	53	c.129 others(72): Show c.129+11795_129+11796insGAAGCCGGTCCGTAGAGCTGTAGTTA TGTCATCCTGCGTGGGCGTTGGTGATG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68794505	A A	AAATATAT others(46): Show AAATATATATATATATATATATATATATATATATATATATATATATTTTT TTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0048 a0002c0004t0001g0048	1	128	0.0078	53	c.154 others(72): Show c.1549+6969_1549+6970insAATATATATATATATATATATATATA TATATATATATATATATATTTTTTTTT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13			chr8	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(46): Show GATATATATATATATATGCTAGATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	324	0.0031	53	c.565 others(70): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT ATATCTAGCATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441226	T T	TATATATA others(46): Show TATATATATTATATATATATATATATATATAATATATATATATATATATA TATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02071.hp1 NA18612.hp1 others(5): Show HG00408.hp2 HG02071.hp1 NA18612.hp1 NA18747.hp1 NA18953.hp1 NA18973.hp1 NA18977.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0002t0001g0068 others(5): Show a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0096 a0001c0002t0002g0069	8	324	0.0247	53	c.-24 others(72): Show c.-246+2759_-246+2760insTATATATATATATATATATATATTAT ATATATATATATATATATAATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CACNA1C_chr12_2047987_2702950	2105772	C C	CTGAAGCC others(46): Show CTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGC ATCG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp2 HG02723.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0014 a0001c0001t0004 a0001c0011t0014	a0001c0001t0004g0008 a0001c0011t0014g0007 a0001c0001t0004g0008 a0001c0011t0014g0007	2	104	0.0192	53	c.50- others(68): Show c.50-9400_50-9399insGTGAAGCCACTGGGCGCCCACCCCGGGGAG GGTTTCCACCTCAGCTGGGCATC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2105977	G G	GGGGCGTC others(46): Show GGGGCGTCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTC AGCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0034 a0001c0001t0015g0034	1	104	0.0096	53	c.50- others(68): Show c.50-9243_50-9191dupCGTCCTGAAGCCACTGGGCGCCCACCCCGG GGAGGGTTTCCACCTCAGCTGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2106670	G G	GGGGTGTC others(46): Show GGGGTGTCCTGAAGCCACTGGGAGCCCACCCCGGGGAGGGTTTCCACCTC AGCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0041 a0001c0038t0041	a0001c0038t0041g0047 a0001c0038t0041g0047	1	104	0.0096	53	c.50- others(68): Show c.50-8551_50-8550insTGTCCTGAAGCCACTGGGAGCCCACCCCGG GGAGGGTTTCCACCTCAGCTGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(46): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGT ACGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0010 a0010	a0010c0131 a0010c0131	a0010c0131t0002 a0010c0131t0002	a0010c0131t0002g0331 a0010c0131t0002g0331	1	338	0.0030	53	c.300 others(70): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185836	G G	GGGGTGTG others(46): Show GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCATAGGGGCCGG AGGC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	338	0.0030	53	c.300 others(70): Show c.300-9133_300-9132insTGTGTACGGGGCGGGTGAGTAGACGGTC AGCGTGCATAGGGGCCGGAGGCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1190847	C C	CTGTGTGG others(46): Show CTGTGTGGCCTCAGGCACACTCGGGGTTTCGCTGACCCAGCATGCTGGCC TGGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0003 a0008c0023t0003	a0008c0023t0003g0045 a0008c0023t0003g0045	1	338	0.0030	53	c.300 others(70): Show c.300-4099_300-4098insTTCGCTGACCCAGCATGCTGGCCTGGTT GTGTGGCCTCAGGCACACTCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1190942	T T	TGCTGGCC others(46): Show TGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCGGGGTTTCGCTGACCCA GCAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02486.hp2 others(3): Show HG01884.hp1 HG02055.hp2 HG02486.hp2 HG02717.hp1 HG02886.hp1 HG03540.hp1	a0002 a0003 a0054 a0002 a0003 a0054	a0002c0002 a0002c0063 a0003c0028 others(2): Show a0002c0002 a0002c0063 a0003c0028 a0003c0060 a0054c0074	a0002c0002t0001 a0002c0002t0002 a0002c0063t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0063t0001 a0003c0028t0004 a0003c0060t0039 a0054c0074t0001	a0002c0002t0001g0284 a0002c0002t0002g0086 a0002c0063t0001g0287 others(3): Show a0002c0002t0001g0284 a0002c0002t0002g0086 a0002c0063t0001g0287 a0003c0028t0004g0028 a0003c0060t0039g0317 a0054c0074t0001g0283	6	338	0.0178	53	c.300 others(70): Show c.300-3989_300-3988insCTGACCCAGCAGGCTGGCCTGGTTGTGT GGCCTCAGGCACACTCGGGGTTTCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191250	C C	CCAGCAGG others(46): Show CCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCAGGGTCTCTCT GACT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0001 a0002c0063t0001	a0002c0063t0001g0287 a0002c0063t0001g0287	1	338	0.0030	53	c.300 others(70): Show c.300-3684_300-3683insAGGGTCTCTCTGACTCAGCAGGCTGGCC TGGCTGTGTGGCCTCAGGCACACTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191250	C C	CCAGCAGG others(46): Show CCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCT GACT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02622.hp2 HG00639.hp1 HG01891.hp1 HG02622.hp2	a0002 a0002	a0002c0008 a0002c0109 a0002c0008 a0002c0109	a0002c0008t0001 a0002c0008t0002 a0002c0109t0001 a0002c0008t0001 a0002c0008t0002 a0002c0109t0001	a0002c0008t0001g0316 a0002c0008t0002g0233 a0002c0109t0001g0080 a0002c0008t0001g0316 a0002c0008t0002g0233 a0002c0109t0001g0080	3	338	0.0089	53	c.300 others(70): Show c.300-3673_300-3672insGACTCAGCAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTCTCTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191354	C C	CCAGCAGG others(46): Show CCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCT TACT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0004 a0006c0004t0004	a0006c0004t0004g0187 a0006c0004t0004g0187	1	338	0.0030	53	c.300 others(70): Show c.300-3575_300-3574insCTCTCTTACTCAGCAGGCTGGCCTGGCT GTGTGGCCTCAGGCACACTCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191557	C C	CTGACCCA others(46): Show CTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTT TCGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02622.hp2 HG00639.hp1 HG01891.hp1 HG02622.hp2	a0002 a0002	a0002c0008 a0002c0109 a0002c0008 a0002c0109	a0002c0008t0001 a0002c0008t0002 a0002c0109t0001 a0002c0008t0001 a0002c0008t0002 a0002c0109t0001	a0002c0008t0001g0316 a0002c0008t0002g0233 a0002c0109t0001g0080 a0002c0008t0001g0316 a0002c0008t0002g0233 a0002c0109t0001g0080	3	338	0.0089	53	c.300 others(70): Show c.300-3393_300-3341dupCTGTGTGGCCTCAGGCACACTCGGGGTT TCGGTGACCCAGCAGGCTGGCCTGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191632	T T	TTGTGTGG others(46): Show TTGTGTGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCC TGGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03491.hp1 others(1): Show HG01167.hp1 HG01169.hp2 HG03491.hp1 HG03492.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0004 a0006c0004t0004	a0006c0004t0004g0003 a0006c0004t0004g0285 a0006c0004t0004g0286 a0006c0004t0004g0003 a0006c0004t0004g0285 a0006c0004t0004g0286	4	338	0.0118	53	c.300 others(70): Show c.300-3318_300-3266dupAGGGTTTTGGTGACCCAGCAGGCTGGCC TGGCTGTGTGGCCTCAGGCACACTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNB2_chr10_18135424_18548557	18499637	A A	AAAGAAGA others(46): Show AAAGAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAG CACT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG03704.hp2 others(1): Show HG02717.hp1 HG02895.hp2 HG03704.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0041 a0001c0001t0042 a0001c0001t0001 a0001c0001t0041 a0001c0001t0042	a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0041g0074 others(1): Show a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0041g0074 a0001c0001t0042g0093	4	200	0.0200	53	c.456 others(70): Show c.456+1165_456+1166insGAACCTAGAAGCCTGGGTACTATGGCTC ATGCCTGTAATCCAAGCACTAAGAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18499637	A A	AAAGAAGA others(46): Show AAAGAAGAACCTAGAAGCCTGGGTACTATGGCTCATGCCTGTAATCCAAG CACT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG02717.hp2 others(4): Show HG00639.hp1 HG01081.hp2 HG02717.hp2 HG02895.hp1 HG03704.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0037 a0001c0001t0045	a0001c0001t0001g0076 a0001c0001t0001g0226 a0001c0001t0001g0259 others(4): Show a0001c0001t0001g0076 a0001c0001t0001g0226 a0001c0001t0001g0259 a0001c0001t0001g0279 a0001c0001t0014g0041 a0001c0001t0037g0195 a0001c0001t0045g0205	7	302	0.0232	53	c.294 others(70): Show c.294+1165_294+1166insGAACCTAGAAGCCTGGGTACTATGGCTC ATGCCTGTAATCCAAGCACTAAGAA	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG2_chr22_36555857_36708752	36703760	G G	GCTCGCTC others(46): Show GCTCGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTCTCTCT CTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	214	0.0047	53	c.-11 others(64): Show c.-1185_-1184insAGAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGCGAG	CACNG2	ENSG00000166862.7	transcript	ENST00000300105.7	protein_coding		9		chr22	TogoVar
CACNG7_chr19_53904278_53948950	53922340	C C	CAGGTCTG others(46): Show CAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGACTT GCCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	364	0.0028	53	c.424 others(70): Show c.424+6835_424+6836insAGGTCTGGTCATTGGTGGAGTTGCCCCA GGCCTGGTCATTGGTGGACTTGCCG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53924565	T T	TCATTGGT others(46): Show TCATTGGTGGACTTGCCTAGGGCTGGTCATTGGTGGACTTGCCTAGGGCT GGTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	364	0.0028	53	c.424 others(70): Show c.424+9060_424+9061insCATTGGTGGACTTGCCTAGGGCTGGTCA TTGGTGGACTTGCCTAGGGCTGGTC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53925536	G G	GCTGGTCA others(46): Show GCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGACTTACCCC AGGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG02622.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0234 a0001c0001t0001g0215 a0001c0001t0001g0234	2	364	0.0055	53	c.424 others(72): Show c.424+10046_424+10047insGTTGTCCCAGGCTGGTCATTGGTGGA CTTACCCCAGGTCTGGTCATTGGTGGA	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	142	0.0070	53	c.244 others(70): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0026 a0001c0001t0015g0026	1	142	0.0070	53	c.244 others(70): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44588872	T T	TGGGGGGG others(46): Show TGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	198	0.0051	53	c.377 others(74): Show c.377-115405_377-115404insGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44588872	T T	TGGGGGGG others(46): Show TGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	198	0.0051	53	c.377 others(74): Show c.377-115405_377-115404insGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CANT1_chr17_78986716_79014764	79004585	A A	AGGAGTTG others(46): Show AGGAGTTGGGGGGAGTTAGGGAGGGGTGTTAGGGAGAGAGGGGTTAGGGA GAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0255 a0001c0002t0023g0255	1	394	0.0025	53	c.-14 others(72): Show c.-147+5078_-147+5079insCCTCTCCCTAACCCCTCTCTCCCTAA CACCCCTCCCTAACTCCCCCCAACTCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(46): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0089 a0001c0001t0024g0089	1	380	0.0026	53	c.721 others(68): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN13_chr2_30717771_30812446	30800126	A A	AAGAAAGA others(46): Show AAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	384	0.0026	53	c.-33 others(70): Show c.-33+7175_-33+7176insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTTCTTTCTTTCT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPRIN2_chr12_30704553_30759951	30734725	T T	TTTATTTT others(46): Show TTTATTTTATATGTATCTTACTAGATGAGTTTCTAGAGAGTGAAAGGAAT ACTG	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0115 a0010c0018t0001g0115	1	378	0.0027	53	c.566 others(68): Show c.566+242_566+243insCAGTATTCCTTTCACTCTCTAGAAACTCAT CTAGTAAGATACATATAAAATAA	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	5/18			chr12	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(46): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	186	0.0054	53	c.615 others(70): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459267	T T	TTTCTTTC others(46): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTTTTTC TTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0146 a0001c0002t0007g0146	1	186	0.0054	53	c.615 others(70): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTTTTTTCTTTCTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CATSPER4_chr1_26185602_26207964	26206481	A A	AAAAAGAA others(46): Show AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	398	0.0025	53	c.39 others(64): Show c.3939_*3940insAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		3518		chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244621007	T T	TATATATA others(46): Show TATATATATAAAATATATATAAATATATATAAAATATATATAAATATATA TAAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03710.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0003g0072 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0003g0072	3	206	0.0146	53	c.264 others(72): Show c.2648+3362_2648+3363insAATATATATAAAATATATATAAAATA TATATAAATATATATAAAATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CBARP_chr19_1223287_1243005	1231469	A A	ACACAGAA others(46): Show ACACAGAACGCCTGTGGCCCCCATACACACACATAGAACGCCTGTGCCCC CCAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	408	0.0025	53	c.980 others(68): Show c.980-247_980-195dupGTGGGGGGCACAGGCGTTCTATGTGTGTGT ATGGGGGCCACAGGCGTTCTGTG	CBARP	ENSG00000099625.14	transcript	ENST00000650044.2	protein_coding	8/9			chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88967117	A A	ACCCCCGA others(46): Show ACCCCCGAGGTGCCACTCGGCCCCGACACGCGGCAGCACCATGCCACCCC CCAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	284	0.0035	53	c.151 others(70): Show c.151+9487_151+9539dupCTGGGGGGTGGCATGGTGCTGCCGCGTG TCGGGGCCGAGTGGCACCTCGGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88967154	A A	ACCATGCC others(46): Show ACCATGCCACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGC AGCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01074.hp2 others(14): Show HG00597.hp2 HG00609.hp1 HG01074.hp2 HG01361.hp1 HG01934.hp2 HG01952.hp1 HG02886.hp2 HG03579.hp2 NA18747.hp1 NA18952.hp1 NA18964.hp1 NA18979.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0005t0012	a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0047 others(14): Show a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0169 a0001c0001t0001g0197 a0001c0001t0001g0236 a0001c0001t0010g0170 a0001c0002t0001g0102 a0001c0005t0012g0184	17	284	0.0599	53	c.151 others(70): Show c.151+9450_151+9502dupCGCTGCCTCGTGTCGGGGCCGAGTGGCA CCTCGGGGGCTGGGGGGTGGCATGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBLC_chr19_44772890_44805652	44773326	A A	AAAAAGAG others(46): Show AAAAAGAGTTATTATAGTTGCAAAGTGGATACAAAAAAACCTGTCAAATC TAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	344	0.0029	53	c.-46 others(64): Show c.-4606_-4605insAAAAGAGTTATTATAGTTGCAAAGTGGATACAAA AAAACCTGTCAAATCTAGG	CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding		4563		chr19	TogoVar
CCDC102B_chr18_68793080_69060189	68956397	T T	TAAATATA others(46): Show TAAATATATTATTTTATATTATATTTTATTTTATTTATATTATTTTATAT TATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp1 others(46): Show HG00140.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02723.hp1 HG02738.hp2 HG03492.hp1 HG03831.hp2 HG04199.hp2 HG06807.hp2 NA18941.hp1 NA18944.hp2 NA18949.hp1 NA18956.hp1 NA18961.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18988.hp1 NA18995.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19086.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0023 a0024 a0028	a0001c0001 a0001c0007 a0002c0002 others(8): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005 a0002c0009 a0002c0031 a0003c0004 a0007c0012 a0023c0037 a0024c0036 a0028c0022	a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0007t0001 a0001c0007t0005 a0002c0002t0001 a0002c0002t0003 a0002c0005t0001 a0002c0005t0005 a0002c0009t0001 a0002c0031t0001 a0003c0004t0001 a0007c0012t0001 a0023c0037t0001 a0024c0036t0001 a0028c0022t0001	a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0185 others(46): Show a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0213 a0001c0001t0008g0036 a0001c0007t0001g0177 a0001c0007t0005g0189 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0073 a0002c0002t0001g0079 a0002c0002t0001g0094 a0002c0002t0001g0098 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0179 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0003g0059 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0097 a0002c0005t0001g0028 a0002c0005t0001g0041 a0002c0005t0001g0053 a0002c0005t0001g0069 a0002c0005t0001g0071 a0002c0005t0001g0182 a0002c0005t0001g0191 a0002c0005t0001g0211 a0002c0005t0005g0037 a0002c0009t0001g0102 a0002c0009t0001g0111 a0002c0031t0001g0119 a0003c0004t0001g0138 a0007c0012t0001g0197 a0023c0037t0001g0008 a0024c0036t0001g0046 a0028c0022t0001g0178	49	216	0.2269	53	c.126 others(74): Show c.1264-54528_1264-54527insATTTTATATTATATTTTATTTTAT TTATATTATTTTATATTATAAAATATATT	CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC105_chr19_15005726_15028276	15018715	A A	ATATATAT others(46): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0001 a0005c0027t0001	a0005c0027t0001g0110 a0005c0027t0001g0110	1	440	0.0023	53	c.676 others(70): Show c.676-1746_676-1745insTATATATATATATATATATATATATATA TATATATATATATATATATATATAT	CCDC105	ENSG00000160994.4	transcript	ENST00000292574.4	protein_coding	2/6			chr19	TogoVar
CCDC142_chr2_74467832_74487998	74487486	G G	GGGATTAC others(46): Show GGGATTACAGGTGTGAGCCACTGCACCCGGCTTTTTATTTTTTTAAATTT ATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	370	0.0027	53	c.-47 others(64): Show c.-4702_-4650dupAAATAAATTTAAAAAAATAAAAAGCCGGGTGCAG TGGCTCACACCTGTAATCC	CCDC142	ENSG00000135637.14	transcript	ENST00000393965.8	protein_coding		4489		chr2	TogoVar
CCDC171_chr9_15548043_15979037	15883017	C C	CCTTCCTT others(46): Show CCTTCCTTCCTTCCTTCCTGGCTGCCTTCCTCCCCTCCCATCCCCTCCCC TCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp1 HG03540.hp2 others(1): Show HG02723.hp1 HG03041.hp1 HG03540.hp2 NA18906.hp1	a0003 a0011 a0023 a0003 a0011 a0023	a0003c0003 a0011c0010 a0023c0015 a0003c0003 a0011c0010 a0023c0015	a0003c0003t0004 a0011c0010t0027 a0023c0015t0025 a0003c0003t0004 a0011c0010t0027 a0023c0015t0025	a0003c0003t0004g0146 a0003c0003t0004g0147 a0011c0010t0027g0003 others(1): Show a0003c0003t0004g0146 a0003c0003t0004g0147 a0011c0010t0027g0003 a0023c0015t0025g0002	4	266	0.0150	53	c.360 others(72): Show c.3600+8356_3600+8357insTCCTTCCTTCCTTCCTGGCTGCCTTC CTCCCCTCCCATCCCCTCCCCTCCTCT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	24/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252200	C C	CAGTCCAC others(46): Show CAGTCCACCCCGGGAAGGTCCAGGCGACCGTCCTGCGGAGCCGGCCGCCC ACCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0043 a0043	a0043c0032 a0043c0032	a0043c0032t0121 a0043c0032t0121	a0043c0032t0121g0033 a0043c0032t0121g0033	1	400	0.0025	53	c.13 others(64): Show c.1393_*1394insAGGTGGGCGGCCGGCTCCGCAGGACGGTCGCCTG GACCTTCCCGGGGTGGACT	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1393		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252301	G G	GAGCCGGC others(46): Show GAGCCGGCCGCCCACCCCGTCCACCAGGGGAAGGTCCAGGCAACCGTCCC ACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0100 a0100	a0100c0204 a0100c0204	a0100c0204t0122 a0100c0204t0122	a0100c0204t0122g0368 a0100c0204t0122g0368	1	400	0.0025	53	c.12 others(64): Show c.1292_*1293insGTGTGGGACGGTTGCCTGGACCTTCCCCTGGTGG ACGGGGTGGGCGGCCGGCT	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1292		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252379	A A	AGGGGAAG others(46): Show AGGGGAAGGTCCAGGCGACCATCCCGCACAGCCGGCCGCCCACCCTGTCC ACCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0145 a0145	a0145c0131 a0145c0131	a0145c0131t0109 a0145c0131t0109	a0145c0131t0109g0104 a0145c0131t0109g0104	1	400	0.0025	53	c.12 others(64): Show c.1214_*1215insCGGTGGACAGGGTGGGCGGCCGGCTGTGCGGGAT GGTCGCCTGGACCTTCCCC	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1214		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252456	C C	CGCACAGC others(46): Show CGCACAGCCGGCCGCCCACCCGGTCCACCCTGGGAAGGTCCAGGCGACCA TCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0093 a0002c0001t0093	a0002c0001t0093g0075 a0002c0001t0093g0075	1	400	0.0025	53	c.10 others(64): Show c.1085_*1137dupAGGATGGTCGCCTGGACCTTCCCAGGGTGGACCG GGTGGGCGGCCGGCTGTGC	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1137		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252509	T T	TGCACAGC others(46): Show TGCACAGCCGGCCGCCCACCCGGTCCACCCTGGGAAGGTCCAGGCAACCG TCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0053 a0053	a0053c0045 a0053c0045	a0053c0045t0123 a0053c0045t0123	a0053c0045t0123g0084 a0053c0045t0123g0084	1	400	0.0025	53	c.10 others(64): Show c.1084_*1085insGGGACGGTTGCCTGGACCTTCCCAGGGTGGACCG GGTGGGCGGCCGGCTGTGC	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1084		chr9	TogoVar
CCDC38_chr12_95862048_95947614	95907478	T T	TGGGGCGG others(46): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC GGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp1 HG00733.hp2 others(13): Show HG00597.hp2 HG00621.hp1 HG00733.hp2 HG01192.hp1 HG01261.hp2 HG02074.hp2 HG02135.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18954.hp1 NA18985.hp1 NA18990.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0014 a0002c0003 a0002c0004 others(3): Show a0001c0014 a0002c0003 a0002c0004 a0002c0012 a0003c0020 a0005c0010	a0001c0014t0001 a0002c0003t0001 a0002c0003t0002 others(5): Show a0001c0014t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0004 a0002c0012t0001 a0003c0020t0002 a0005c0010t0001	a0001c0014t0001g0128 a0002c0003t0001g0184 a0002c0003t0002g0294 others(13): Show a0001c0014t0001g0128 a0002c0003t0001g0184 a0002c0003t0002g0294 a0002c0003t0002g0296 a0002c0003t0002g0298 a0002c0003t0002g0312 a0002c0003t0002g0318 a0002c0003t0002g0326 a0002c0003t0002g0327 a0002c0004t0001g0082 a0002c0004t0001g0191 a0002c0004t0001g0227 a0002c0004t0004g0343 a0002c0012t0001g0081 a0003c0020t0002g0252 a0005c0010t0001g0245	16	350	0.0457	53	c.305 others(70): Show c.305-1028_305-1027insGTCCGGGAGGGAGGTGGGGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar

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Search Results (Total: 10000 hits)