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
CREB5_chr7_28407518_28830894	28775565	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0132 a0001c0001t0024g0132	1	198	0.0051	27	c.703 others(46): Show c.703-28634_703-28633insATATATATATATATATATATATATAT A	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	7/10			chr7	TogoVar
CREBBP_chr16_3720054_3885713	3759588	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03516.hp1 HG01891.hp1 HG03516.hp1	a0001 a0001	a0001c0027 a0001c0033 a0001c0027 a0001c0033	a0001c0027t0007 a0001c0033t0004 a0001c0027t0007 a0001c0033t0004	a0001c0027t0007g0007 a0001c0033t0004g0234 a0001c0027t0007g0007 a0001c0033t0004g0234	2	286	0.0070	27	c.325 others(44): Show c.3251-617_3251-616insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	16/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3849433	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGATGTGCGTGACCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0047 a0004c0010t0047	a0004c0010t0047g0249 a0004c0010t0047g0249	1	286	0.0035	27	c.798 others(42): Show c.798+863_798+864insAGGTCACGCACATCACACACACACACA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	2/30			chr16	TogoVar
CREG1_chr1_167536013_167558762	167540386	T T	TAGCAGCA others(20): Show TAGCAGCAGCAGCAGCAGCAGCAGCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG03491.hp2 HG03669.hp2 HG01361.hp2 HG03491.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	418	0.0072	27	c.18 others(38): Show c.1885_*1911dupGCTGCTGCTGCTGCTGCTGCTGCTGCT	CREG1	ENSG00000143162.9	transcript	ENST00000370509.5	protein_coding		626		chr1	TogoVar
CRELD2_chr22_49913634_49932537	49926810	G G	GGTCCCCT others(20): Show GGTCCCCTCTTGCCCCTCCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	324	0.0031	27	c.101 others(44): Show c.1010-436_1010-410dupTTGCCCCTCCCTCCCCCCCGTCCCCTC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRISP1_chr6_49829257_49871535	49844563	T T	TGAGGCTG others(20): Show TGAGGCTGCCTCACTGAGCTAAAGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01071.hp1 others(3): Show HG00099.hp1 HG01070.hp2 HG01071.hp1 HG01515.hp1 HG03710.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0021 a0002c0003t0004g0053 a0002c0003t0004g0054 others(2): Show a0002c0003t0004g0021 a0002c0003t0004g0053 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0057	6	378	0.0159	27	c.435 others(44): Show c.435+1930_435+1956dupTTCCCTTTAGCTCAGTGAGGCAGCCTC	CRISP1	ENSG00000124812.15	transcript	ENST00000335847.9	protein_coding	5/7			chr6	TogoVar
CRLF2_chrX_1185490_1217649	1191361	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18951.hp1 HG01981.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0077 a0001c0008t0001g0162 a0001c0001t0001g0077 a0001c0008t0001g0162	2	167	0.0120	27	c.853 others(42): Show c.853-202_853-201insAAAGAAAGAAAGAAAGAAAGAAAGAAA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	7/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1213066	C C	CCTCCCCT others(20): Show CCTCCCCTTCCCTCTCCCCTCCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0091 a0002c0004t0001g0091	1	167	0.0060	27	c.-43 others(36): Show c.-433_-432insAGGGGGGGAGGGGAGAGGGAAGGGGAG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding		418		chrX	TogoVar
CRLS1_chr20_6001123_6045053	6011572	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19074.hp1 NA19087.hp1 HG01261.hp2 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0006g0224 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0006g0224	3	366	0.0082	27	c.444 others(44): Show c.444+1668_444+1694dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CRLS1	ENSG00000088766.12	transcript	ENST00000378863.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
CRMP1_chr4_5815764_5898086	5837646	A A	AAAATAAT others(20): Show AAAATAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19088.hp2 NA19007.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0140 a0001c0002t0009g0128 a0001c0002t0001g0140 a0001c0002t0009g0128	2	314	0.0064	27	c.131 others(44): Show c.1311-767_1311-741dupATTTTATTTTATTTTATTTTATTATTT	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	9/13			chr4	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	290	0.0035	27	c.535 others(46): Show c.535-13688_535-13687insATATATATATTTTTTTTTTTTTTTTT T	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRTC1_chr19_18678680_18787333	18728815	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	274	0.0037	27	c.127 others(46): Show c.127-14080_127-14079insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC3_chr15_90524923_90650345	90567691	A A	AAATAAAT others(20): Show AAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	276	0.0036	27	c.232 others(46): Show c.232-25943_232-25942insTAAATAAATAAATAAATAAATAAATA A	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(20): Show CCCTCCCTCCCTCCCTCCCTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	402	0.0025	27	c.301 others(42): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218779	G G	GAGAGAGA others(20): Show GAGAGAGAGAAAGAAAGAAAGAAAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA19055.hp2 NA18995.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0141 a0001c0001t0001g0015 a0001c0001t0001g0141	2	464	0.0043	27	c.-91 others(36): Show c.-914_-913insAGAGAGAGAAAGAAAGAAAGAAAAAGA	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		859		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03209.hp1 NA18522.hp2 others(2): Show HG03041.hp2 HG03209.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp1	a0002 a0009 a0035 others(1): Show a0002 a0009 a0035 a0045	a0002c0003 a0009c0012 a0035c0051 others(1): Show a0002c0003 a0009c0012 a0035c0051 a0045c0053	a0002c0003t0003 a0009c0012t0002 a0035c0051t0016 others(1): Show a0002c0003t0003 a0009c0012t0002 a0035c0051t0016 a0045c0053t0003	a0002c0003t0003g0223 a0002c0003t0003g0224 a0009c0012t0002g0226 others(2): Show a0002c0003t0003g0223 a0002c0003t0003g0224 a0009c0012t0002g0226 a0035c0051t0016g0225 a0045c0053t0003g0227	5	272	0.0184	27	c.173 others(42): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(20): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01433.hp2 NA18952.hp2 others(5): Show HG00408.hp2 HG01433.hp2 NA18952.hp2 NA18967.hp2 NA18985.hp1 NA18994.hp2 NA19067.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0058 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0058	8	452	0.0177	27	c.17 others(38): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20420701	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	250	0.0040	27	c.634 others(44): Show c.634-7315_634-7314insCACACACAAAAAAAAAAAAAAAAAAAA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02280.hp1 HG02280.hp2 others(6): Show HG01975.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02809.hp1 HG03041.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 others(6): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190	9	360	0.0250	27	c.332 others(44): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSAD_chr12_53152663_53185925	53184114	G G	GTGTGTGT others(20): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0096 a0001c0001t0013g0096	1	334	0.0030	27	c.-34 others(38): Show c.-3474_-3473insACACACACACACACACACACACACACA	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3190		chr12	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02602.hp1 NA18961.hp1 others(1): Show HG01243.hp1 HG02602.hp1 NA18961.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368 others(1): Show a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0369	4	386	0.0104	27	c.-12 others(44): Show c.-12+1143_-12+1169dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49047588	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0363 a0001c0002t0001g0363	1	386	0.0026	27	c.-12 others(44): Show c.-12+1169_-12+1170insTTTTTTTTTTTTTTTTTTTTTTGTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065311	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	386	0.0026	27	c.229 others(42): Show c.229-881_229-880insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24			chr20	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	ACAAGAAG others(20): Show ACAAGAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0353 a0002c0003t0001g0353	1	406	0.0025	27	c.49+ others(42): Show c.49+2035_49+2036insCTTTCTTTCTTTCTTTCTTTCTTCTTG	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1280868	C C	CCTCCTCC others(20): Show CCTCCTCCTTCTCCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG02109.hp1 HG03453.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0020 a0002c0003 a0003c0020	a0002c0003t0001 a0003c0020t0005 a0002c0003t0001 a0003c0020t0005	a0002c0003t0001g0003 a0003c0020t0005g0129 a0002c0003t0001g0003 a0003c0020t0005g0129	2	159	0.0126	27	c.-26 others(44): Show c.-26-1805_-26-1804insCCTTCTCCTCCTCCTCCTCCTTCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1280934	C C	CCTCCTCC others(20): Show CCTCCTCCTGCTTCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0134	1	159	0.0063	27	c.-26 others(44): Show c.-26-1736_-26-1735insGCTTCTCCTCCTCCTCCTTCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1280976	G G	GCTTCTCC others(20): Show GCTTCTCCTCCTCCTTCTTCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0060 a0001c0001t0002g0061 a0001c0001t0001g0060 a0001c0001t0002g0061	2	159	0.0126	27	c.-26 others(44): Show c.-26-1688_-26-1687insTCTTCTCCTCCTCCTTCTCCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19407911	G G	GTGCATGT others(20): Show GTGCATGTGGACATTTGTGTATATGAAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02300.hp1 HG02486.hp1 others(6): Show HG01258.hp2 HG02300.hp1 HG02486.hp1 HG02630.hp1 HG02897.hp2 HG04204.hp1 NA18952.hp2 NA18971.hp1 NA19043.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0001c0007 a0001c0010 others(2): Show a0001c0002 a0001c0007 a0001c0010 a0001c0017 a0011c0019	a0001c0002t0001 a0001c0002t0004 a0001c0002t0023 others(5): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0023 a0001c0007t0021 a0001c0007t0031 a0001c0010t0018 a0001c0017t0023 a0011c0019t0009	a0001c0002t0001g0115 a0001c0002t0004g0117 a0001c0002t0023g0096 others(6): Show a0001c0002t0001g0115 a0001c0002t0004g0117 a0001c0002t0023g0096 a0001c0007t0021g0030 a0001c0007t0031g0029 a0001c0010t0018g0026 a0001c0010t0018g0191 a0001c0017t0023g0011 a0011c0019t0009g0055	9	238	0.0378	27	c.130 others(44): Show c.1309+701_1309+702insATTCATATACACAAATGTCCACATGCA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	8/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0135 a0001c0006t0002g0135	1	238	0.0042	27	c.122 others(44): Show c.1228-256_1228-255insGTGTGTGTGTGTGTGTGTGTGTGTGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19509621	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0200 a0002c0004t0012g0200	1	238	0.0042	27	c.-29 others(46): Show c.-296-3518_-296-3492dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666808	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0012 a0004c0009t0012	a0004c0009t0012g0070 a0004c0009t0012g0070	1	238	0.0042	27	c.-39 others(48): Show c.-391-64944_-391-64943insCTTTCTTTCTTTCTTTCTTTCTTT CTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGTGTGT others(20): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0003 a0001c0017t0005g0003	1	126	0.0079	27	c.562 others(46): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC C	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3439309	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0092 a0002c0092	a0002c0092t0001 a0002c0092t0001	a0002c0092t0001g0011 a0002c0092t0001g0011	1	126	0.0079	27	c.156 others(48): Show c.1561+29402_1561+29403insATATATATATATATATATATATAT ATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3670578	G G	GATATATA others(20): Show GATATATATGGGGATATATATATTGCAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19030.hp1 NA18979.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0036 a0001c0019 a0002c0036	a0001c0019t0078 a0002c0036t0029 a0001c0019t0078 a0002c0036t0029	a0001c0019t0078g0105 a0002c0036t0029g0009 a0001c0019t0078g0105 a0002c0036t0029g0009	2	126	0.0159	27	c.100 others(48): Show c.1009+37835_1009+37836insATGCAATATATATATCCCCATATA TAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3709680	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02683.hp1 HG03225.hp2 HG02074.hp2 HG02683.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0001c0025 a0002c0091 a0001c0021 a0001c0025 a0002c0091	a0001c0021t0005 a0001c0025t0003 a0002c0091t0002 a0001c0021t0005 a0001c0025t0003 a0002c0091t0002	a0001c0021t0005g0012 a0001c0025t0003g0077 a0002c0091t0002g0114 a0001c0021t0005g0012 a0001c0025t0003g0077 a0002c0091t0002g0114	3	126	0.0238	27	c.932 others(44): Show c.932-1216_932-1190dupAAAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795023	A A	ATATAGCT others(20): Show ATATAGCTATAGATACATATCTATCATG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03209.hp1 HG03225.hp2 others(2): Show HG02615.hp1 HG03209.hp1 HG03225.hp2 HG06807.hp2 NA19030.hp2	a0001 a0012 a0026 a0001 a0012 a0026	a0001c0020 a0001c0025 a0001c0068 others(2): Show a0001c0020 a0001c0025 a0001c0068 a0012c0104 a0026c0082	a0001c0020t0016 a0001c0025t0003 a0001c0068t0015 others(2): Show a0001c0020t0016 a0001c0025t0003 a0001c0068t0015 a0012c0104t0071 a0026c0082t0052	a0001c0020t0016g0065 a0001c0025t0003g0077 a0001c0068t0015g0049 others(2): Show a0001c0020t0016g0065 a0001c0025t0003g0077 a0001c0068t0015g0049 a0012c0104t0071g0058 a0026c0082t0052g0097	5	126	0.0397	27	c.819 others(46): Show c.819-41008_819-40982dupCATGATAGATATGTATCTATAGCTAT A	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4390497	T T	TTTTTTTA others(20): Show TTTTTTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0074 a0002c0074	a0002c0074t0041 a0002c0074t0041	a0002c0074t0041g0031 a0002c0074t0041g0031	1	126	0.0079	27	c.415 others(46): Show c.415+29455_415+29456insTAAATAAATAAATAAATAAATAAAAA A	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4727929	A A	ATATATAT others(20): Show ATATATATATATACAAAATATATATATG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0022 a0022	a0022c0013 a0022c0013	a0022c0013t0007 a0022c0013t0007	a0022c0013t0007g0112 a0022c0013t0007g0112	1	126	0.0079	27	c.86- others(44): Show c.86-90372_86-90371insCATATATATATTTTGTATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764872	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	27	c.86- others(46): Show c.86-127315_86-127314insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4764905	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0055 a0003c0014t0055	a0003c0014t0055g0056 a0003c0014t0055g0056	1	126	0.0079	27	c.86- others(46): Show c.86-127348_86-127347insGTTTTGTTTTTTTTTTTTTTTTTTTT T	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	34076928	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0003 a0026c0023t0003	a0026c0023t0003g0039 a0026c0023t0003g0039	1	66	0.0152	27	c.404 others(46): Show c.404+12048_404+12049insATATATATATTTTTTTTTTTTTTTTT T	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	2/70			chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270359	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0001 a0002c0011t0001g0001	1	80	0.0125	27	c.950 others(46): Show c.9509-4770_9509-4769insTCACCCCTAACACACACACACACACA C	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112270361	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0036 a0002c0005t0001g0036	1	80	0.0125	27	c.950 others(46): Show c.9509-4772_9509-4771insTCACCCCTAACACACACACACACACA C	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112369982	A A	AAAGAGGA others(20): Show AAAGAGGAAGAGGAAGAAGAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0040 a0008c0014t0005g0040	1	80	0.0125	27	c.613 others(48): Show c.6136+10369_6136+10370insCTTCTTCCTCTTCTTCCTCTTCCT CTT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSMD3_chr8_112217928_113441939	112369996	A A	AGAAGAGG others(20): Show AGAAGAGGAAGAGGAAGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	80	0.0125	27	c.613 others(48): Show c.6136+10355_6136+10356insCTCTTCCTCTTCTTCCTCTTCCTC TTC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149544737	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	390	0.0026	27	c.230 others(44): Show c.230+5337_230+5338insTATATATATATATATATATATATATAT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK2A1_chr20_467498_548790	485101	A A	AATATATA others(20): Show AATATATATATAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0114 a0001c0001t0028g0114	1	316	0.0032	27	c.106 others(46): Show c.1061-1026_1061-1025insATATATATATATATATTATATATATA T	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	316	0.0032	27	c.106 others(46): Show c.1061-1034_1061-1033insATATATATATATATATATATATTTTT T	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNKA2IP_chr3_88333456_88472594	88445932	T T	TTCTTTCC others(20): Show TTCTTTCCTTCTTTCTTTCTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02572.hp1 HG03041.hp2 HG01952.hp2 HG02572.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0011t0001 a0002c0002t0002 a0002c0011t0001	a0002c0002t0002g0283 a0002c0011t0001g0199 a0002c0011t0001g0200 a0002c0002t0002g0283 a0002c0011t0001g0199 a0002c0011t0001g0200	3	386	0.0078	27	c.-27 others(48): Show c.-270-19156_-270-19155insTCTTTCCTTCTTTCTTTCTTCTTT CTC	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1			chr3	TogoVar
CSPP1_chr8_67059392_67201614	67083548	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0029 a0002c0004t0003g0029	1	158	0.0063	27	c.200 others(44): Show c.200-2458_200-2457insAAAAAAATATATATATATATATATATA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	3/30		INFO_REALIGN_3_PRIME	chr8	TogoVar

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