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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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
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19057.hp2 NA18985.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0166 a0001c0001t0003g0167 a0001c0001t0001g0166 a0001c0001t0003g0167	2	408	0.0049	35	c.253 others(52): Show c.253+3142_253+3143insAAAAATATATATATATATATATATATAT ATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLRN1_chr3_150921567_150977727	150969313	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18939.hp2 NA18980.hp2 HG03831.hp1 NA18939.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0003g0158 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0003g0158	3	408	0.0074	35	c.253 others(52): Show c.253+3142_253+3143insAAAAAAATATATATATATATATATATAT ATATATA	CLRN1	ENSG00000163646.12	transcript	ENST00000327047.6	protein_coding	1/2			chr3	TogoVar
CLSTN2_chr3_139930185_140582397	139998336	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	110	0.0091	35	c.109 others(54): Show c.109+62873_109+62874insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140251584	G G	GTTCCTTT others(28): Show GTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG01243.hp2 HG02559.hp2	a0001 a0001	a0001c0014 a0001c0018 a0001c0014 a0001c0018	a0001c0014t0032 a0001c0018t0002 a0001c0014t0032 a0001c0018t0002	a0001c0014t0032g0028 a0001c0018t0002g0006 a0001c0014t0032g0028 a0001c0018t0002g0006	2	110	0.0182	35	c.232 others(54): Show c.232+75532_232+75566dupTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLTCL1_chr22_19174473_19296719	19175882	A A	AGGCACAG others(28): Show AGGCACAGGGTTCACAGTAAGCACATGGACAAGTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0192	1	346	0.0029	35	c.41 others(46): Show c.4107_*4108insCGACTTGTCCATGTGCTTACTGTGAACCCTGTGC C	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		3590		chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19291811	T T	TGCCCCGC others(28): Show TGCCCCGCCCCTGCCCCCGCCTCTGCCCCGCCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0327 a0001c0003t0001g0327	1	346	0.0029	35	c.-17 others(44): Show c.-171_-170insCAGGGGCGGGGCAGAGGCGGGGGCAGGGGCGGGGC	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		93		chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19291821	C C	CCTGCCCC others(28): Show CCTGCCCCCGCCTCTGCCCCGCCCCTGCCCCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp1 others(42): Show HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG02004.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02809.hp1 HG03453.hp1 HG03471.hp1 HG03654.hp1 HG04184.hp1 NA18747.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18968.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18984.hp2 NA18989.hp2 NA19000.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2	a0001 a0005 a0010 others(2): Show a0001 a0005 a0010 a0013 a0017	a0001c0002 a0001c0003 a0005c0007 others(3): Show a0001c0002 a0001c0003 a0005c0007 a0010c0016 a0013c0013 a0017c0031	a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0003t0003 a0005c0007t0006 a0010c0016t0006 a0013c0013t0003 a0017c0031t0007	a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0003g0039 others(42): Show a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0061 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0078 a0001c0003t0003g0034 a0001c0003t0003g0098 a0001c0003t0003g0100 a0005c0007t0006g0298 a0005c0007t0006g0299 a0005c0007t0006g0300 a0005c0007t0006g0301 a0005c0007t0006g0302 a0005c0007t0006g0303 a0005c0007t0006g0304 a0005c0007t0006g0305 a0005c0007t0006g0306 a0005c0007t0006g0307 a0005c0007t0006g0308 a0005c0007t0006g0309 a0005c0007t0006g0310 a0010c0016t0006g0312 a0013c0013t0003g0036 a0013c0013t0003g0037 a0017c0031t0007g0099	45	346	0.1301	35	c.-18 others(44): Show c.-181_-180insAGGCGGGGGCAGGGGCGGGGCAGAGGCGGGGGCAG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		103		chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19291835	G G	GCCCCGCC others(28): Show GCCCCGCCCCTGCCCCCGCCTCTGCCCCGCCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01074.hp1 HG01175.hp2 others(5): Show HG00733.hp1 HG01074.hp1 HG01175.hp2 HG01891.hp2 HG02165.hp1 HG02970.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0004 a0001c0003t0001 a0001c0004t0004	a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 others(4): Show a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0185 a0001c0003t0001g0186 a0001c0004t0004g0005 a0001c0004t0004g0278	8	346	0.0231	35	c.-19 others(44): Show c.-195_-194insGCAGGGGCGGGGCAGAGGCGGGGGCAGGGGCGGGG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding		117		chr22	TogoVar
CLUL1_chr18_591988_655182	627023	G G	GAGAGAGA others(28): Show GAGAGAGAAAGAGAAAAGAAGAAAGAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG04115.hp1 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0388 a0001c0001t0001g0183 a0001c0001t0001g0388	2	414	0.0048	35	c.424 others(48): Show c.424-73_424-72insGAGAGAAAGAGAAAAGAAGAAAGAGAAAGAAA GAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
CLVS2_chr6_122991235_123077925	123040769	A A	AAAAAGAA others(28): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19007.hp1 NA19011.hp2 HG04204.hp1 NA19007.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0070 a0001c0001t0001 a0001c0001t0070	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0070g0050 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0070g0050	3	336	0.0089	35	c.565 others(52): Show c.565-7850_565-7816dupAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAA	CLVS2	ENSG00000146352.13	transcript	ENST00000275162.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
CMC4_chrX_155056622_155076136	155075291	C C	CCCCTGAA others(28): Show CCCCTGAAACTCTTGTTTTGCCTTCTTTGTCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA19030.hp2 HG02970.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	292	0.0069	35	c.-46 others(46): Show c.-4609_-4608insAGGAAGACAAAGAAGGCAAAACAAGAGTTTCAGG G	CMC4	ENSG00000182712.16	transcript	ENST00000369484.8	protein_coding		4156		chrX	TogoVar
CMKLR1_chr12_108283046_108344311	108339186	T T	TCATTCAA others(28): Show TCATTCAAGATCCCCCTCTGAACCCCCAGAGCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0381 a0001c0001t0064g0381	1	400	0.0025	35	c.-48 others(44): Show c.-481_-447dupCGGCGCTCTGGGGGTTCAGAGGGGGATCTTGAATG	CMKLR1	ENSG00000174600.14	transcript	ENST00000550402.6	protein_coding	1/4	45596		chr12	TogoVar
CNBD1_chr8_86861415_87387859	87137048	T T	TTATATAT others(28): Show TTATATATATATTATATTTATATTCTATGTAAATTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02486.hp2 others(6): Show HG02055.hp1 HG02055.hp2 HG02486.hp2 HG02622.hp1 HG02809.hp2 HG02965.hp1 HG03471.hp1 HG06807.hp1 NA18906.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0003	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0004c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0037 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0117 a0002c0002t0001g0085 a0002c0002t0001g0091 a0003c0004t0001g0068 a0003c0004t0001g0148 a0004c0003t0001g0009	9	152	0.0592	35	c.432 others(54): Show c.432-68936_432-68935insATTATATTTATATTCTATGTAAATTA TATATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87352478	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	152	0.0066	35	c.115 others(52): Show c.1152+702_1152+703insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNKSR3_chr6_154382515_154515685	154382594	G G	GAGGGGAG others(28): Show GAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0195 a0001c0002t0195	a0001c0002t0195g0337 a0001c0002t0195g0337	1	342	0.0029	35	c.23 others(48): Show c.23759_*23760insGCCCTCCCCTCCCCTGCCCTCCCCTGCCCTCC CCT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4920		chr6	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	354	0.0028	35	c.159 others(54): Show c.1596-4968_1596-4967insAAAAAAATATATATATATATATATAT ATATATATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT6L_chr4_77708387_77824368	77807276	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0220 a0001c0001t0005g0220	1	328	0.0031	35	c.5+1 others(50): Show c.5+12027_5+12028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNTLN_chr9_17130040_17508923	17278336	C C	CTTTAGAG others(28): Show CTTTAGAGTAAACTTGCTTATTTTTTCTTTGGTATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19043.hp1 HG02258.hp2 NA19043.hp1	a0001 a0009 a0001 a0009	a0001c0004 a0009c0053 a0001c0004 a0009c0053	a0001c0004t0003 a0009c0053t0002 a0001c0004t0003 a0009c0053t0002	a0001c0004t0003g0003 a0009c0053t0002g0004 a0001c0004t0003g0003 a0009c0053t0002g0004	2	218	0.0092	35	c.983 others(52): Show c.983+4473_983+4507dupTAGAGTAAACTTGCTTATTTTTTCTTTG GTATGTT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	6/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40813038	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01346.hp1 others(2): Show HG00323.hp1 HG00642.hp1 HG01346.hp1 HG01346.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0005 a0001c0003t0011 a0001c0002t0001 a0001c0003t0005 a0001c0003t0011	a0001c0002t0001g0083 a0001c0002t0001g0198 a0001c0003t0005g0071 others(2): Show a0001c0002t0001g0083 a0001c0002t0001g0198 a0001c0003t0005g0071 a0001c0003t0005g0082 a0001c0003t0011g0227	5	230	0.0217	35	c.-76 others(54): Show c.-76-95319_-76-95318insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23			chr12	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01361.hp1 others(2): Show HG00642.hp1 HG01106.hp2 HG01361.hp1 HG02300.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0005 a0001c0003t0011 a0001c0002t0001 a0001c0003t0005 a0001c0003t0011	a0001c0002t0001g0197 a0001c0003t0005g0070 a0001c0003t0005g0071 others(2): Show a0001c0002t0001g0197 a0001c0003t0005g0070 a0001c0003t0005g0071 a0001c0003t0005g0191 a0001c0003t0011g0199	5	230	0.0217	35	c.-76 others(54): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2120405	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0103 a0002c0015t0003g0103	1	116	0.0086	35	c.-14 others(56): Show c.-145+19766_-145+19767insAATATATATATATATATATATATA TATTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340704	T T	TAGAGAGA others(28): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0039 a0001c0009t0014g0039	1	116	0.0086	35	c.-89 others(52): Show c.-89+1472_-89+1473insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GGGGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340704	T T	TAGAGAGA others(28): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02074.hp1 HG01243.hp2 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0004 a0001c0002t0002 a0001c0009t0004	a0001c0002t0002g0102 a0001c0009t0004g0005 a0001c0002t0002g0102 a0001c0009t0004g0005	2	116	0.0172	35	c.-89 others(52): Show c.-89+1472_-89+1473insGAGAGAGAGAGAGAGAGAGAGAGAGAGG GGGGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340706	T T	TAGAGAGA others(28): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGGGGGGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0093 a0005c0012t0009g0093	1	116	0.0086	35	c.-89 others(52): Show c.-89+1474_-89+1475insGAGAGAGAGAGAGAGAGAGAGAGAGGGG GGAGAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99201351	T T	TTCCTTCC others(28): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18957.hp1 HG02965.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0052 a0001c0001t0003g0022 a0001c0001t0001g0052 a0001c0001t0003g0022	2	66	0.0303	35	c.-20 others(58): Show c.-209-123994_-209-123993insCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99338923	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATCTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	66	0.0152	35	c.-71 others(54): Show c.-71+13463_-71+13464insATATATCTGTGATATATATATATATA TATATATAT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1122376	A A	AAGGGAGG others(28): Show AAGGGAGGGAGGAATGAAGGAGGAAGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp1 others(14): Show HG00140.hp2 HG00642.hp1 HG00733.hp1 HG01074.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG02451.hp2 HG02698.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03471.hp1 HG03654.hp1 HG03669.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0002 a0001c0005t0001 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0095 others(14): Show a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0002t0001g0122 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0005t0001g0159 a0001c0005t0001g0196 a0001c0007t0001g0001 a0001c0007t0001g0017 a0001c0007t0002g0032 a0001c0008t0001g0010 a0001c0008t0001g0143 a0001c0009t0001g0114	17	232	0.0733	35	c.-82 others(54): Show c.-82-25544_-82-25543insGAGGAATGAAGGAGGAAGGAAGGAAG GGAGGGAGG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245302	A A	ATATATAA others(28): Show ATATATAACATATATATATATAACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0214 a0001c0008t0001g0214	1	232	0.0043	35	c.358 others(54): Show c.358+17315_358+17316insACATATATATATATAACATATATATA TATTATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245307	T T	TAACATAT others(28): Show TAACATATATATATATATAACATATATATATATAAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0090 a0001c0004t0001g0090	1	232	0.0043	35	c.358 others(54): Show c.358+17315_358+17316insACATATATATATATATAACATATATA TATATAACA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146500125	T T	TCAGATTA others(28): Show TCAGATTATGTCATCTGAGAATAGGTGTTACCAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02486.hp1 others(6): Show HG00735.hp2 HG01891.hp1 HG02486.hp1 HG02630.hp1 HG02717.hp1 HG02896.hp2 HG02897.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0001c0013 a0001c0019 a0002c0017 a0004c0014	a0001c0001t0007 a0001c0003t0023 a0001c0004t0003 others(5): Show a0001c0001t0007 a0001c0003t0023 a0001c0004t0003 a0001c0012t0004 a0001c0013t0003 a0001c0019t0006 a0002c0017t0015 a0004c0014t0021	a0001c0001t0007g0020 a0001c0003t0023g0030 a0001c0004t0003g0035 others(6): Show a0001c0001t0007g0020 a0001c0003t0023g0030 a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0012t0004g0026 a0001c0013t0003g0039 a0001c0019t0006g0015 a0002c0017t0015g0037 a0004c0014t0021g0022	9	40	0.2250	35	c.98- others(54): Show c.98-274077_98-274043dupAACAGATTATGTCATCTGAGAATAGG TGTTACCAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146665783	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	40	0.0250	35	c.98- others(54): Show c.98-108473_98-108472insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147084005	A A	ACATAATG others(28): Show ACATAATGCTATATATGTATATATAATACATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA20129.hp1 HG02717.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0017 a0001c0006 a0002c0017	a0001c0006t0009 a0002c0017t0015 a0001c0006t0009 a0002c0017t0015	a0001c0006t0009g0028 a0002c0017t0015g0037 a0001c0006t0009g0028 a0002c0017t0015g0037	2	40	0.0500	35	c.551 others(54): Show c.551-23870_551-23836dupACATATATGCATAATGCTATATATGT ATATATAAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586523	G G	GAAGAGGG others(28): Show GAAGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02486.hp2 HG01891.hp2 HG02451.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0002t0001 a0001c0003t0011 a0001c0001t0006 a0001c0002t0001 a0001c0003t0011	a0001c0001t0006g0009 a0001c0002t0001g0007 a0001c0003t0011g0023 a0001c0001t0006g0009 a0001c0002t0001g0007 a0001c0003t0011g0023	3	40	0.0750	35	c.189 others(56): Show c.1897+24267_1897+24268insAGAGGGAGGAAGGAAGGAAGGAAG GAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147586523	G G	GAAGAGGG others(28): Show GAAGAGGGAGGAAGGAAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0011 a0001c0004 a0001c0011	a0001c0004t0005 a0001c0011t0016 a0001c0004t0005 a0001c0011t0016	a0001c0004t0005g0004 a0001c0011t0016g0019 a0001c0004t0005g0004 a0001c0011t0016g0019	2	40	0.0500	35	c.189 others(56): Show c.1897+24267_1897+24268insAGAGGGAGGAAGGAAGGGAGGAAG GAAGGAAGGAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG04204.hp2 HG02258.hp2 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0064 a0002c0002t0002g0043 a0001c0001t0003g0064 a0002c0002t0002g0043	2	274	0.0073	35	c.133 others(54): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATATAT ATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	274	0.0037	35	c.133 others(54): Show c.1334-1182_1334-1181insAAAAAAAAATATATATATATATATAT ATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522687	C C	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	274	0.0037	35	c.275 others(52): Show c.2755+488_2755+522dupTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
COA1_chr7_43634257_43734523	43708671	G G	GTCTCTTA others(28): Show GTCTCTTACCCATTATTCTACTGGCTTGTCTTTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0346 a0001c0001t0002g0346	1	384	0.0026	35	c.-39 others(54): Show c.-39+20723_-39+20757dupGAAAAAGACAAGCCAGTAGAATAATG GGTAAGAGA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COBLL1_chr2_164675188_164846823	164687213	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0034 a0009c0034	a0009c0034t0032 a0009c0034t0032	a0009c0034t0032g0024 a0009c0034t0032g0024	1	212	0.0047	35	c.330 others(54): Show c.3301-1182_3301-1181insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	13/13			chr2	TogoVar
COG3_chr13_45459939_45541701	45486338	A A	AGGGAGAG others(28): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18964.hp2 NA19084.hp2 HG00558.hp1 NA18964.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0134	3	342	0.0088	35	c.844 others(50): Show c.844-157_844-156insGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22			chr13	TogoVar
COL14A1_chr8_120120102_120378573	120348241	A A	ATATGTAT others(28): Show ATATGTATATATATGAAGCATATATAAAGCATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	218	0.0046	35	c.507 others(54): Show c.5077+2679_5077+2713dupTATGTATATATATGAAGCATATATAA AGCATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL15A1_chr9_98938907_99075787	98979963	C C	CGTAGGCA others(28): Show CGTAGGCAATATAGCGAGACCCTGTCTCTACAAAAA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	310	0.0032	35	c.101 others(52): Show c.101-5601_101-5567dupGTAGGCAATATAGCGAGACCCTGTCTCT ACAAAAA	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL18A1_chr21_45400165_45518720	45508442	A A	AGTGGGTG others(28): Show AGTGGGTGAGTGGATGGGTGGCTGGATGGTGGACAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01496.hp1 HG02109.hp2 others(8): Show HG00639.hp2 HG01496.hp1 HG02109.hp2 HG02280.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG03130.hp1 HG03453.hp1 HG03579.hp1 HG03942.hp1	a0001 a0008 a0012 others(4): Show a0001 a0008 a0012 a0019 a0020 a0023 a0031	a0001c0019 a0001c0069 a0008c0018 others(6): Show a0001c0019 a0001c0069 a0008c0018 a0008c0101 a0012c0065 a0019c0096 a0020c0094 a0023c0085 a0031c0092	a0001c0019t0003 a0001c0069t0005 a0008c0018t0005 others(6): Show a0001c0019t0003 a0001c0069t0005 a0008c0018t0005 a0008c0101t0005 a0012c0065t0002 a0019c0096t0015 a0020c0094t0011 a0023c0085t0002 a0031c0092t0011	a0001c0019t0003g0139 a0001c0069t0005g0038 a0008c0018t0005g0067 others(8): Show a0001c0019t0003g0139 a0001c0069t0005g0038 a0008c0018t0005g0067 a0008c0018t0005g0130 a0008c0018t0005g0132 a0008c0101t0005g0027 a0012c0065t0002g0096 a0019c0096t0015g0045 a0020c0094t0011g0075 a0023c0085t0002g0106 a0031c0092t0011g0190	11	292	0.0377	35	c.324 others(52): Show c.3249+869_3249+870insCTGGATGGTGGACAGGTGGGTGAGTGGA TGGGTGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	38/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69996934	G G	GTGTGTGT others(28): Show GTGTGTGTATATATATATGTATGTACATATATAGTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02622.hp1 others(9): Show HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(3): Show a0001c0001 a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0002c0020	a0001c0001t0006 a0002c0003t0012 a0002c0004t0001 others(4): Show a0001c0001t0006 a0002c0003t0012 a0002c0004t0001 a0002c0004t0006 a0002c0006t0003 a0002c0009t0004 a0002c0020t0006	a0001c0001t0006g0107 a0002c0003t0012g0010 a0002c0004t0001g0008 others(9): Show a0001c0001t0006g0107 a0002c0003t0012g0010 a0002c0004t0001g0008 a0002c0004t0001g0161 a0002c0004t0006g0007 a0002c0004t0006g0009 a0002c0006t0003g0065 a0002c0006t0003g0066 a0002c0006t0003g0131 a0002c0009t0004g0129 a0002c0009t0004g0168 a0002c0020t0006g0006	12	182	0.0659	35	c.102 others(56): Show c.1027-26688_1027-26687insGTATATATATATGTATGTACATAT ATAGTATGTGT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	11/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69996938	G G	GTATATAT others(28): Show GTATATATATATGTATGTACATATATAGTATGTGTA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0032 a0002c0003t0002g0032	1	182	0.0055	35	c.102 others(56): Show c.1027-26680_1027-26679insATGTATGTACATATATAGTATGTG TATATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	11/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(28): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG02622.hp2 others(3): Show HG00280.hp1 HG01099.hp1 HG02622.hp2 HG02738.hp2 HG03540.hp2 HG03834.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0017 a0002c0011 a0002c0023 others(2): Show a0001c0017 a0002c0011 a0002c0023 a0002c0025 a0013c0049	a0001c0017t0005 a0002c0011t0001 a0002c0011t0012 others(3): Show a0001c0017t0005 a0002c0011t0001 a0002c0011t0012 a0002c0023t0001 a0002c0025t0004 a0013c0049t0006	a0001c0017t0005g0149 a0002c0011t0001g0019 a0002c0011t0012g0139 others(3): Show a0001c0017t0005g0149 a0002c0011t0001g0019 a0002c0011t0012g0139 a0002c0023t0001g0117 a0002c0025t0004g0103 a0013c0049t0006g0078	6	158	0.0380	35	c.355 others(52): Show c.3555+209_3555+210insGCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(28): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGCAAGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01099.hp2 others(6): Show HG00642.hp1 HG01070.hp1 HG01099.hp2 HG02738.hp1 HG02895.hp2 HG02976.hp2 HG03098.hp2 NA19066.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0014 others(4): Show a0001c0001 a0001c0002 a0001c0014 a0002c0003 a0002c0059 a0003c0033 a0007c0058	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0005 a0001c0014t0011 a0002c0003t0003 a0002c0059t0001 a0003c0033t0002 a0007c0058t0002	a0001c0001t0001g0123 a0001c0001t0003g0004 a0001c0001t0006g0114 others(6): Show a0001c0001t0001g0123 a0001c0001t0003g0004 a0001c0001t0006g0114 a0001c0002t0005g0141 a0001c0014t0011g0091 a0002c0003t0003g0011 a0002c0059t0001g0051 a0003c0033t0002g0015 a0007c0058t0002g0095	9	158	0.0570	35	c.355 others(52): Show c.3555+209_3555+210insGCCTTGCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178518658	G G	GGGCGGCC others(28): Show GGGCGGCCAGGCAGAGGCGCTCCTCACATCTCAGAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	236	0.0042	35	c.361 others(54): Show c.361+42023_361+42024insGTCTGAGATGTGAGGAGCGCCTCTGC CTGGCCGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178518658	G G	GGGCGGCG others(28): Show GGGCGGCGGGGCAGAGGCGCTCCTCACATCTCAGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02647.hp2 others(5): Show HG01884.hp1 HG02572.hp1 HG02647.hp2 HG02886.hp2 HG03209.hp1 HG03540.hp1 NA18522.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0009 others(1): Show a0001c0001 a0002c0003 a0002c0009 a0003c0005	a0001c0001t0003 a0001c0001t0005 a0002c0003t0002 others(3): Show a0001c0001t0003 a0001c0001t0005 a0002c0003t0002 a0002c0003t0005 a0002c0009t0008 a0003c0005t0002	a0001c0001t0003g0006 a0001c0001t0003g0212 a0001c0001t0003g0213 others(5): Show a0001c0001t0003g0006 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0005g0161 a0002c0003t0002g0211 a0002c0003t0005g0146 a0002c0009t0008g0235 a0003c0005t0002g0061	8	236	0.0339	35	c.361 others(54): Show c.361+42023_361+42024insGTCTGAGATGTGAGGAGCGCCTCTGC CCCGCCGCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85799248	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	238	0.0042	35	c.395 others(56): Show c.3952-12788_3952-12787insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	47/59			chr1	TogoVar

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Search Results (Total: 4618 hits)