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
C8orf74_chr8_10667628_10705590	10704003	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA19240.hp2 NA18522.hp2 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0293 a0002c0003t0002g0338 a0002c0003t0002g0293 a0002c0003t0002g0338	2	430	0.0047	14	c.35 others(25): Show c.3532_*3533insAAAAAAAAAAAAAA	C8orf74	ENSG00000171060.11	transcript	ENST00000304519.10	protein_coding		3414		chr8	TogoVar
C8orf88_chr8_90953471_90990238	90955112	T T	TTAATTAT others(7): Show TTAATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02615.hp1 HG02717.hp1 others(1): Show HG01167.hp2 HG02615.hp1 HG02717.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0004 a0001c0001t0002g0099 a0001c0001t0002g0105	4	368	0.0109	14	c.38 others(25): Show c.3894_*3895insTATATATATAATTA	C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding		3358		chr8	TogoVar
C8orf88_chr8_90953471_90990238	90955112	T T	TTATATAT others(7): Show TTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03834.hp1 others(5): Show HG02896.hp2 HG02897.hp1 HG03834.hp1 NA18946.hp2 NA19001.hp2 NA19012.hp2 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0002g0100 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0002g0100 a0001c0001t0002g0103	8	368	0.0217	14	c.38 others(25): Show c.3881_*3894dupTATATATATATATA	C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding		3358		chr8	TogoVar
C8orf88_chr8_90953471_90990238	90968657	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG04204.hp2 NA18966.hp1 others(2): Show HG02895.hp2 HG04204.hp2 NA18966.hp1 NA18969.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0187 a0001c0001t0002g0091 a0001c0001t0003g0020 a0001c0001t0001g0187 a0001c0001t0002g0091 a0001c0001t0003g0020	5	368	0.0136	14	c.223 others(31): Show c.223+2395_223+2408dupATATATATATATAT	C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding	4/5			chr8	TogoVar
C9_chr5_39279140_39369495	39282105	C C	CTTTTCTT others(7): Show CTTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02055.hp2 others(2): Show HG01106.hp1 HG01891.hp2 HG02055.hp2 HG02572.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0202 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0202 a0001c0001t0002g0226 a0001c0001t0002g0235	5	394	0.0127	14	c.30 others(25): Show c.3093_*3094insAGAAAGAAAGAAAA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		2034		chr5	TogoVar
C9_chr5_39279140_39369495	39282110	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0338 a0002c0002t0001g0338	1	394	0.0025	14	c.30 others(25): Show c.3088_*3089insAAGAAAGAAAGAAA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		2029		chr5	TogoVar
C9_chr5_39279140_39369495	39282140	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00609.hp1 others(69): Show HG00099.hp1 HG00280.hp1 HG00609.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01192.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01928.hp2 HG01975.hp2 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02965.hp2 HG03130.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18975.hp1 NA18982.hp2 NA18988.hp1 NA18991.hp1 NA18995.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19240.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0011	a0001c0001 a0001c0010 a0001c0013 others(6): Show a0001c0001 a0001c0010 a0001c0013 a0001c0015 a0002c0002 a0003c0003 a0004c0004 a0008c0011 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0010t0001 a0001c0013t0002 a0001c0015t0008 a0002c0002t0001 a0003c0003t0005 a0004c0004t0001 a0008c0011t0001 a0011c0014t0001	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0025 others(68): Show a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0002g0011 a0001c0001t0004g0018 a0001c0001t0004g0365 a0001c0010t0001g0077 a0001c0013t0002g0119 a0001c0015t0008g0138 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0287 a0002c0002t0001g0294 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0305 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0328 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0345 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0351 a0003c0003t0005g0218 a0004c0004t0001g0192 a0008c0011t0001g0285 a0011c0014t0001g0161	72	394	0.1827	14	c.30 others(25): Show c.3058_*3059insGAAAGAAAGAAAGA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		1999		chr5	TogoVar
C9_chr5_39279140_39369495	39359098	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	394	0.0025	14	c.77+ others(29): Show c.77+5289_77+5290insTATATATATATATA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18968.hp1 HG00733.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0003g0263 a0001c0001t0001g0019 a0001c0001t0003g0263	2	394	0.0051	14	c.77+ others(29): Show c.77+5272_77+5285dupTATATATATATATA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0287 a0002c0002t0001g0287	1	394	0.0025	14	c.77+ others(29): Show c.77+5285_77+5286insTATATATATATACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0285 a0008c0011t0001g0285	1	394	0.0025	14	c.77+ others(29): Show c.77+5285_77+5286insTATATATATACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0295 a0002c0002t0001g0295	1	394	0.0025	14	c.77+ others(29): Show c.77+5285_77+5286insTATATATACACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00621.hp1 others(34): Show HG00597.hp1 HG00597.hp2 HG00621.hp1 HG01257.hp2 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02148.hp2 HG03491.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp1 NA18942.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19080.hp1 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0033 a0001c0001t0037	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0010 others(17): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0047 a0001c0001t0002g0100 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0049 a0001c0001t0003g0079 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0003g0141 a0001c0001t0015g0051 a0001c0001t0017g0022 a0001c0001t0024g0057 a0001c0001t0033g0078 a0001c0001t0037g0125	37	466	0.0794	14	c.20 others(25): Show c.2041_*2054dupTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209938	A A	AAGAGAAG others(7): Show AAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	466	0.0022	14	c.-23 others(25): Show c.-2360_-2359insCTCTTCTCTTCTCT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1780		chr9	TogoVar
C9orf153_chr9_86215265_86264657	86251914	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG01257.hp2 others(49): Show HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03927.hp2 HG04204.hp1 NA18906.hp2 NA18946.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA19003.hp1 NA19062.hp1 NA19072.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0002c0002t0002 a0002c0002t0005 a0002c0002t0009 a0003c0003t0008	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0185 others(43): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0317 a0001c0001t0002g0007 a0001c0001t0002g0031 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0102 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0159 a0001c0001t0002g0174 a0001c0001t0003g0341 a0001c0001t0010g0041 a0002c0002t0002g0056 a0002c0002t0005g0005 a0002c0002t0005g0227 a0002c0002t0005g0250 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0311 a0002c0002t0005g0318 a0002c0002t0005g0342 a0002c0002t0009g0039 a0003c0003t0008g0011	52	384	0.1354	14	c.-27 others(31): Show c.-27+7622_-27+7635dupGTGTGTGTGTGTGT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf24_chr9_34374019_34402810	34392442	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp2 HG02559.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0244 a0001c0001t0001g0245	2	450	0.0044	14	c.135 others(31): Show c.135+5043_135+5056dupACACACACACACAC	C9orf24	ENSG00000164972.14	transcript	ENST00000297623.7	protein_coding	1/6			chr9	TogoVar
C9orf50_chr9_129607225_129626101	129607477	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	410	0.0024	14	c.48 others(25): Show c.4869_*4870insACACACACACACAC	C9orf50	ENSG00000179058.8	transcript	ENST00000372478.5	protein_coding		4747		chr9	TogoVar
C9orf50_chr9_129607225_129626101	129623342	A A	AAGAAAGA others(7): Show AAGAAAGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03041.hp1 NA19043.hp1 HG02976.hp1 HG03041.hp1 NA19043.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0004 a0002c0002t0001 a0005c0007t0004	a0002c0002t0001g0074 a0002c0002t0001g0103 a0005c0007t0004g0048 a0002c0002t0001g0074 a0002c0002t0001g0103 a0005c0007t0004g0048	3	410	0.0073	14	c.-27 others(25): Show c.-2769_-2768insCCTTCCTTCTTTCT	C9orf50	ENSG00000179058.8	transcript	ENST00000372478.5	protein_coding		2242		chr9	TogoVar
C9orf72_chr9_27541546_27578481	27573469	A A	AGGCACCG others(7): Show AGGCACCGCAACCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG02723.hp1 others(1): Show HG01891.hp1 HG02451.hp2 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0053 a0001c0001t0007g0054 a0001c0001t0007g0029 a0001c0001t0007g0053 a0001c0001t0007g0054	4	438	0.0091	14	c.-97 others(21): Show c.-97_-84dupGCGGTTGCGGTGCC	C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding	1/11	6350		chr9	TogoVar
C9orf78_chr9_129822290_129840275	129824634	A A	AATAATAA others(7): Show AATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03130.hp1 HG03098.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0105 a0001c0002t0002g0007 a0001c0002t0002g0105	2	386	0.0052	14	c.35 others(25): Show c.3526_*3527insATTATTATTATTAT	C9orf78	ENSG00000136819.15	transcript	ENST00000372447.7	protein_coding		2655		chr9	TogoVar
CA10_chr17_51625320_52163714	51636775	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02809.hp1 HG03139.hp1 HG01243.hp2 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0079 a0001c0001t0003g0110 a0001c0001t0003g0068 a0001c0001t0003g0079 a0001c0001t0003g0110	3	156	0.0192	14	c.635 others(29): Show c.635-780_635-767dupCACACACACACACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	6/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51707669	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG04228.hp1 HG02145.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0120 a0001c0002t0001g0095 a0001c0001t0002g0120 a0001c0002t0001g0095	2	156	0.0128	14	c.465 others(33): Show c.465+39963_465+39964insCACACACACACACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51707671	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01106.hp1 others(12): Show HG00408.hp1 HG00423.hp1 HG01106.hp1 HG01167.hp1 HG01361.hp2 HG02056.hp2 HG02896.hp2 HG03239.hp1 HG03239.hp2 NA18951.hp1 NA18974.hp1 NA18982.hp1 NA19011.hp1 NA19078.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0132 others(12): Show a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0002g0012 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0087 a0001c0001t0002g0109 a0001c0002t0001g0017 a0001c0002t0001g0030 a0001c0002t0001g0055 a0001c0002t0001g0066	15	156	0.0962	14	c.465 others(33): Show c.465+39948_465+39961dupCACACACACACACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51717626	C C	CACATATA others(7): Show CACATATATGTATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(37): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG01074.hp1 HG01123.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG02056.hp1 HG02145.hp1 HG02257.hp1 HG02273.hp2 HG02622.hp2 HG02630.hp1 HG03139.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp2 NA18982.hp2 NA19000.hp1 NA19000.hp2 NA19010.hp2 NA19058.hp2 NA19062.hp2 NA19078.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0041 others(37): Show a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0090 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0003g0076 a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0007g0004 a0001c0001t0009g0130 a0001c0001t0012g0156 a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0022 a0001c0002t0001g0040 a0001c0002t0001g0122 a0001c0002t0001g0131 a0001c0002t0001g0151	40	156	0.2564	14	c.465 others(33): Show c.465+30006_465+30007insATATACATATATGT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51765691	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	156	0.0064	14	c.280 others(33): Show c.280-17887_280-17874dupCACACACACACACA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51773447	C C	CATTCAGT others(7): Show CATTCAGTAGGAAGA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	156	0.0064	14	c.280 others(33): Show c.280-25643_280-25630dupTCTTCCTACTGAAT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51849233	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG01074.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0056 a0001c0001t0002g0045 a0001c0001t0002g0056	2	156	0.0128	14	c.279 others(33): Show c.279+81743_279+81756dupTATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51878890	A A	ATATATAT others(7): Show ATATATATGGGTGTG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	156	0.0064	14	c.279 others(33): Show c.279+52099_279+52100insCACACCCATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA10_chr17_51625320_52163714	51942538	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	156	0.0064	14	c.137 others(33): Show c.137-11420_137-11407dupTATATATATATATA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	2/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52072678	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02647.hp2 others(3): Show HG01167.hp1 HG01169.hp1 HG02647.hp2 HG02809.hp1 HG03139.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0080 a0001c0001t0003g0068 a0001c0001t0003g0079 others(3): Show a0001c0001t0001g0080 a0001c0001t0003g0068 a0001c0001t0003g0079 a0001c0001t0008g0096 a0001c0002t0001g0066 a0001c0002t0001g0067	6	156	0.0385	14	c.62- others(27): Show c.62-299_62-286dupGTGTGTGTGTGTGT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52123371	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02572.hp1 HG01516.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0100 a0001c0002t0001g0133 a0001c0001t0004g0100 a0001c0002t0001g0133	2	156	0.0128	14	c.61+ others(31): Show c.61+34341_61+34354dupACACACACACACAC	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	1/8			chr17	TogoVar
CA10_chr17_51625320_52163714	52160818	C C	CTTTCTTT others(7): Show CTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG02723.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0085 a0001c0001t0002g0086	2	156	0.0128	14	c.-30 others(25): Show c.-3033_-3032insAAGAAAGAAAGAAA	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding		2105		chr17	TogoVar
CA12_chr15_63316378_63386846	63364332	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02293.hp2 HG02970.hp2 others(4): Show HG01346.hp2 HG02293.hp2 HG02970.hp2 HG03516.hp1 HG03927.hp1 NA18943.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0021	a0001c0001t0002g0142 a0001c0001t0002g0293 a0001c0001t0003g0241 others(4): Show a0001c0001t0002g0142 a0001c0001t0002g0293 a0001c0001t0003g0241 a0001c0001t0004g0143 a0001c0001t0005g0264 a0001c0001t0012g0333 a0001c0001t0021g0140	7	356	0.0197	14	c.106 others(33): Show c.106+11312_106+11325dupTTTTTTTTTTTTTT	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	2/10			chr15	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19072.hp1 NA18950.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0312 a0001c0001t0005g0313	2	356	0.0056	14	c.86- others(27): Show c.86-923_86-922insGAGAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00741.hp1 others(18): Show HG00609.hp1 HG00639.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01346.hp2 HG01952.hp1 HG02080.hp2 HG02155.hp2 HG02293.hp2 HG03017.hp1 HG03239.hp2 NA18941.hp1 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18979.hp2 NA18981.hp2 NA18991.hp1 NA19004.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0020 a0001c0001t0029 a0001c0001t0031	a0001c0001t0001g0242 a0001c0001t0002g0142 a0001c0001t0002g0236 others(18): Show a0001c0001t0001g0242 a0001c0001t0002g0142 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0003g0241 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0303 a0001c0001t0003g0331 a0001c0001t0004g0143 a0001c0001t0016g0305 a0001c0001t0020g0141 a0001c0001t0029g0301 a0001c0001t0031g0304	21	356	0.0590	14	c.86- others(27): Show c.86-923_86-922insGAAAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA2_chr8_85459007_85486493	85485728	C C	CATATATA others(7): Show CATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG02280.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0065 a0001c0002t0003g0007 a0001c0002t0003g0065	2	336	0.0060	14	c.49 others(25): Show c.4939_*4940insATATATATATATAT	CA2	ENSG00000104267.10	transcript	ENST00000285379.10	protein_coding		4236		chr8	TogoVar
CA4_chr17_60144973_60164546	60155498	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp1 HG01884.hp2 others(21): Show HG01243.hp1 HG01346.hp1 HG01884.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0038 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0079 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0002t0001g0111	24	380	0.0632	14	c.112 others(29): Show c.112+144_112+157dupACACACACACACAC	CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
CA5A_chr16_87883013_87941529	87899919	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	400	0.0025	14	c.618 others(31): Show c.618+1979_618+1992dupTTTTTTTTTTTTTT	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6			chr16	TogoVar
CA5B_chrX_15733270_15793411	15736436	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	274	0.0037	14	c.-19 others(25): Show c.-1970_-1969insAAAAAAAAAAAAAA	CA5B	ENSG00000169239.14	transcript	ENST00000318636.8	protein_coding		1833		chrX	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACACA others(7): Show CACACACATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA20300.hp2 NA18982.hp1 NA20300.hp2	a0007 a0009 a0007 a0009	a0007c0007 a0009c0010 a0007c0007 a0009c0010	a0007c0007t0005 a0009c0010t0001 a0007c0007t0005 a0009c0010t0001	a0007c0007t0005g0147 a0009c0010t0001g0309 a0007c0007t0005g0147 a0009c0010t0001g0309	2	452	0.0044	14	c.501 others(31): Show c.501+1788_501+1789insCACACATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8960789	C C	CACACATA others(7): Show CACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18612.hp2 HG01975.hp1 NA18612.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0238 a0002c0001t0002g0364 a0002c0001t0001g0238 a0002c0001t0002g0364	2	452	0.0044	14	c.501 others(31): Show c.501+1788_501+1789insCACATATATATATA	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973710	C C	CTCTCTTT others(7): Show CTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19055.hp1 NA18994.hp1 NA19055.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0004 a0002c0001 a0006c0004	a0002c0001t0001 a0006c0004t0004 a0002c0001t0001 a0006c0004t0004	a0002c0001t0001g0230 a0006c0004t0004g0161 a0002c0001t0001g0230 a0006c0004t0004g0161	2	452	0.0044	14	c.845 others(29): Show c.845-909_845-908insCTTTCTTTCTTTCT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(7): Show TATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0098 a0001c0002t0036g0098	1	344	0.0029	14	c.36 others(29): Show c.36-973_*36-972insGTGTGTATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60219929	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0181 a0001c0002t0041g0181	1	344	0.0029	14	c.738 others(31): Show c.738+2706_738+2719dupTTTTTTTTTTTTTT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	7/8			chr8	TogoVar
CA9_chr9_35668928_35686159	35673088	C C	CTGGACCT others(7): Show CTGGACCTATGGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	446	0.0022	14	c.-87 others(23): Show c.-872_-871insTGGACCTATGGTAG	CA9	ENSG00000107159.14	transcript	ENST00000378357.9	protein_coding		839		chr9	TogoVar
CAAP1_chr9_26835685_26897802	26847198	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	372	0.0027	14	c.740 others(31): Show c.740-4565_740-4552dupAAAAAAAAAAAAAA	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49351262	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19012.hp1 NA18940.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0190 a0001c0001t0001g0095 a0001c0001t0001g0190	2	324	0.0062	14	c.396 others(29): Show c.396-364_396-351dupCACACACACACACA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	6/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49417595	C C	CAAATAAC others(7): Show CAAATAACAGAAGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(176): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19078.hp1 NA19082.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0017 a0001c0004t0004 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0051 others(175): Show a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0316 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0127 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0254 a0001c0001t0002g0263 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0300 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0022 a0001c0001t0004g0008 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0133 a0001c0001t0004g0206 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0004g0293 a0001c0001t0004g0295 a0001c0001t0005g0003 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0117 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0183 a0001c0001t0005g0213 a0001c0001t0005g0214 a0001c0001t0005g0233 a0001c0001t0006g0104 a0001c0001t0006g0132 a0001c0001t0006g0162 a0001c0001t0006g0260 a0001c0001t0006g0277 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0001t0006g0283 a0001c0001t0010g0056 a0001c0001t0011g0146 a0001c0001t0012g0264 a0001c0001t0015g0270 a0001c0001t0016g0314 a0001c0002t0001g0046 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0060 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0098 a0001c0002t0001g0119 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0137 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0180 a0001c0002t0001g0193 a0001c0002t0001g0205 a0001c0002t0001g0215 a0001c0002t0001g0232 a0001c0002t0001g0236 a0001c0002t0001g0240 a0001c0002t0001g0249 a0001c0002t0001g0259 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0276 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0306 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0108 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0148 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0192 a0001c0002t0002g0195 a0001c0002t0002g0229 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0248 a0001c0002t0002g0275 a0001c0002t0002g0287 a0001c0002t0003g0005 a0001c0002t0003g0017 a0001c0002t0003g0032 a0001c0002t0003g0033 a0001c0002t0004g0123 a0001c0002t0006g0288 a0001c0002t0007g0320 a0001c0002t0007g0321 a0001c0002t0007g0323 a0001c0002t0008g0105 a0001c0002t0009g0167 a0001c0002t0017g0131 a0001c0004t0004g0065 a0002c0003t0002g0244	179	324	0.5525	14	c.-32 others(33): Show c.-32+15709_-32+15722dupTGCTTCTGTTATTT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	3/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441221	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03490.hp1 HG03492.hp1 HG03209.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0050 a0001c0001t0001g0001 a0001c0001t0001g0050	3	324	0.0093	14	c.-24 others(33): Show c.-246+2751_-246+2764dupTATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230727363	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG06807.hp1 HG02615.hp1 HG02622.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0017 a0001c0001t0029 a0001c0001t0010 a0001c0001t0017 a0001c0001t0029	a0001c0001t0010g0013 a0001c0001t0017g0007 a0001c0001t0029g0002 a0001c0001t0010g0013 a0001c0001t0017g0007 a0001c0001t0029g0002	3	342	0.0088	14	c.-44 others(33): Show c.-44+14156_-44+14169dupGTGTGTGTGTGTGT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar

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