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
CAP2_chr6_17388595_17562780	17406398	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02071.hp1 HG02280.hp1 others(3): Show HG01175.hp2 HG02071.hp1 HG02280.hp1 NA18906.hp1 NA18999.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0002g0031 a0001c0001t0002g0043 a0001c0006t0001g0017	6	206	0.0291	19	c.-2+ others(36): Show c.-2+12667_-2+12668insTTTTTTTTTTTTTTTTTTT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAP2_chr6_17388595_17562780	17429381	A A	ACATCATA others(12): Show ACATCATAACACAGTACATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	206	0.0049	19	c.222 others(36): Show c.222+2691_222+2692insCATCATAACACAGTACATT	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12			chr6	TogoVar
CAP2_chr6_17388595_17562780	17461992	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01975.hp1 HG01891.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0142 a0001c0001t0001g0052 a0001c0001t0001g0142	2	206	0.0097	19	c.223 others(34): Show c.223-991_223-973dupAAAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN10_chr2_240581734_240604104	240586349	T T	TGCATGCT others(12): Show TGCATGCTGGGAGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0027 a0002c0003t0003g0027	1	412	0.0024	19	c.-56 others(28): Show c.-563_-562insGCATGCTGGGAGCGGCGGC	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		384		chr2	TogoVar
CAPN12_chr19_38725192_38749474	38742850	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	342	0.0029	19	c.307 others(34): Show c.307+164_307+182dupTTTTTTTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	2/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38749044	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0003 a0006c0019t0003	a0006c0019t0003g0273 a0006c0019t0003g0273	1	342	0.0029	19	c.-48 others(30): Show c.-4880_-4879insTTTTTTTTTTTTTTTTTTT	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding		4571		chr19	TogoVar
CAPN13_chr2_30717771_30812446	30766973	A A	ATGGGCTA others(12): Show ATGGGCTACTAATTTGGCTG	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	384	0.0026	19	c.525 others(36): Show c.525-2668_525-2667insCAGCCAAATTAGTAGCCCA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	5/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800116	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	384	0.0026	19	c.-33 others(36): Show c.-33+7185_-33+7186insCTTTCTTTCTTTCTTTCTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30800124	G G	GAAAAGAA others(12): Show GAAAAGAAAGAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	384	0.0026	19	c.-33 others(36): Show c.-33+7177_-33+7178insTCTTTCTTTTCTTTCTTTT	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22			chr2	TogoVar
CAPN14_chr2_31168056_31222515	31181443	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0006 a0007c0009t0006	a0007c0009t0006g0154 a0007c0009t0006g0154	1	326	0.0031	19	c.164 others(36): Show c.1646-444_1646-443insGAAAGAAAGAAAGAAAGAA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	16/21			chr2	TogoVar
CAPN1_chr11_65176928_65217006	65210122	T T	TGTGGGGC others(12): Show TGTGGGGCCCAGGACAGGTA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0138 a0002c0003t0001g0138	1	394	0.0025	19	c.194 others(34): Show c.1942+28_1942+46dupTGGGGCCCAGGACAGGTAG	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPN2_chr1_223707539_223781018	223709661	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02451.hp1 HG02622.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0017 a0001c0002 a0007c0017	a0001c0002t0001 a0007c0017t0007 a0001c0002t0001 a0007c0017t0007	a0001c0002t0001g0349 a0007c0017t0007g0348 a0001c0002t0001g0349 a0007c0017t0007g0348	2	378	0.0053	19	c.-29 others(30): Show c.-2980_-2979insAAAAAAAAAAAAAAAAAAA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding		2877		chr1	TogoVar
CAPN3_chr15_42354501_42417317	42380752	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0267 a0002c0002t0001g0267	1	306	0.0033	19	c.310 others(36): Show c.310-3731_310-3730insATATATATATATATATATA	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23			chr15	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18942.hp2 NA18951.hp2 others(2): Show NA18612.hp2 NA18942.hp2 NA18951.hp2 NA18965.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0001g0064	5	402	0.0124	19	c.137 others(36): Show c.137+1813_137+1814insATATATATATATTTTTTTT	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPSL_chr5_35899288_35943622	35919170	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0271 a0002c0002t0003g0271	1	402	0.0025	19	c.137 others(36): Show c.137+1813_137+1814insATATATATATATATTTTTT	CAPSL	ENSG00000152611.12	transcript	ENST00000651391.1	protein_coding	2/4			chr5	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA19012.hp2 HG02895.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0169 a0001c0001t0002g0159 a0001c0001t0002g0169	2	354	0.0057	19	c.40- others(34): Show c.40-7411_40-7393dupTTTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03225.hp1 HG02717.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0338 a0001c0002t0003g0341 a0001c0002t0003g0338 a0001c0002t0003g0341	2	354	0.0057	19	c.426 others(34): Show c.426+588_426+606dupAAAAAAAAAAAAAAAAAAA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	364	0.0028	19	c.93+ others(34): Show c.93+2782_93+2800dupTTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	2941539	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0193 a0001c0008t0001g0193	1	322	0.0031	19	c.685 others(36): Show c.685-1630_685-1612dupTTTTTTTTTTTTTTTTTTT	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	5/24			chr7	TogoVar
CARD8_chr19_48203086_48260912	48220952	G G	GAAAGGAA others(12): Show GAAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp1 HG02280.hp2 others(12): Show HG00140.hp2 HG01106.hp1 HG02280.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03471.hp2 HG03492.hp2 HG03834.hp2 NA18906.hp1 NA18942.hp1 NA18965.hp1 NA18969.hp2 NA18990.hp2 NA19007.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0010 a0002c0001 a0014c0021 a0001c0010 a0002c0001 a0014c0021	a0001c0010t0001 a0002c0001t0001 a0002c0001t0004 others(4): Show a0001c0010t0001 a0002c0001t0001 a0002c0001t0004 a0002c0001t0010 a0002c0001t0018 a0002c0001t0021 a0014c0021t0001	a0001c0010t0001g0084 a0001c0010t0001g0085 a0002c0001t0001g0068 others(12): Show a0001c0010t0001g0084 a0001c0010t0001g0085 a0002c0001t0001g0068 a0002c0001t0001g0078 a0002c0001t0001g0103 a0002c0001t0004g0267 a0002c0001t0004g0269 a0002c0001t0004g0299 a0002c0001t0010g0290 a0002c0001t0010g0301 a0002c0001t0018g0274 a0002c0001t0018g0282 a0002c0001t0018g0289 a0002c0001t0021g0102 a0014c0021t0001g0101	15	362	0.0414	19	c.116 others(36): Show c.1161+777_1161+778insTTCCTTCCTTCCTTCCTTT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48220954	A A	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02055.hp2 HG02258.hp2 others(4): Show HG00408.hp1 HG02055.hp2 HG02258.hp2 HG02717.hp2 HG02735.hp1 HG02970.hp1 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0002 a0001c0002t0017 a0001c0002t0030 others(2): Show a0001c0002t0002 a0001c0002t0017 a0001c0002t0030 a0001c0004t0003 a0002c0001t0011	a0001c0002t0002g0153 a0001c0002t0017g0254 a0001c0002t0017g0265 others(4): Show a0001c0002t0002g0153 a0001c0002t0017g0254 a0001c0002t0017g0265 a0001c0002t0030g0261 a0001c0004t0003g0216 a0001c0004t0003g0217 a0002c0001t0011g0276	7	362	0.0193	19	c.116 others(36): Show c.1161+775_1161+776insCCTTCCTTCCTTCCTTCCT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARF_chr2_202907275_202993263	202943587	T T	TCACACAC others(12): Show TCACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	334	0.0030	19	c.306 others(34): Show c.306+620_306+621insCACACACACACACACACAC	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	5/16			chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA18906.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0202 a0001c0002t0002g0034 a0001c0002t0002g0202	2	470	0.0043	19	c.31 others(30): Show c.3186_*3187insAAAAAAAAAAAAAAAAAAG	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG02129.hp1 others(2): Show HG01361.hp1 HG02056.hp2 HG02129.hp1 NA18962.hp2 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0101 a0001c0002t0002g0145 others(1): Show a0001c0002t0002g0004 a0001c0002t0002g0101 a0001c0002t0002g0145 a0001c0002t0002g0426	5	470	0.0106	19	c.31 others(30): Show c.3168_*3186dupAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(12): Show GTTTTTTGTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0233 a0001c0002t0002g0233	1	470	0.0021	19	c.281 others(36): Show c.281+1086_281+1087insAAAAACAAAAAACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01192.hp2 HG02040.hp2 others(1): Show HG00741.hp1 HG01192.hp2 HG02040.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0039 a0001c0001t0003 a0001c0001t0039	a0001c0001t0003g0124 a0001c0001t0003g0356 a0001c0001t0003g0419 others(1): Show a0001c0001t0003g0124 a0001c0001t0003g0356 a0001c0001t0003g0419 a0001c0001t0039g0225	4	470	0.0085	19	c.281 others(36): Show c.281+1068_281+1086dupAAAAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARM1_chr19_10866553_10928075	10870586	T T	TCGCCCAA others(12): Show TCGCCCAAAAGAGATGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0327 a0001c0001t0002g0327	1	354	0.0028	19	c.-11 others(30): Show c.-1117_-1116insCGCCCAAAAGAGATGGGGC	CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding		966		chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25334504	C C	CATGCCCA others(12): Show CATGCCCACATTTGCAGTTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0011 a0002c0005t0003g0011	1	186	0.0054	19	c.138 others(38): Show c.138+49595_138+49596insATGCCCACATTTGCAGTTA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25387114	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0108 a0001c0022t0002g0108	1	186	0.0054	19	c.139 others(38): Show c.139-32999_139-32981dupAAAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459267	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02970.hp2 HG01192.hp1 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0008 a0002c0005t0013 a0001c0001t0008 a0002c0005t0013	a0001c0001t0008g0101 a0002c0005t0013g0123 a0001c0001t0008g0101 a0002c0005t0013g0123	2	186	0.0108	19	c.615 others(36): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25529755	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02572.hp1 HG01074.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0012 a0001c0006t0014 a0001c0002t0012 a0001c0006t0014	a0001c0002t0012g0183 a0001c0006t0014g0149 a0001c0002t0012g0183 a0001c0006t0014g0149	2	186	0.0108	19	c.206 others(36): Show c.2067+874_2067+892dupAAAAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(12): Show CTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp2 HG01361.hp1 others(11): Show HG01109.hp1 HG01255.hp2 HG01361.hp1 HG02155.hp2 HG03491.hp2 HG03942.hp1 HG04228.hp2 NA18943.hp2 NA18967.hp1 NA18979.hp1 NA18994.hp1 NA19002.hp2 NA19010.hp2 NA19078.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0007 a0002c0004t0001g0027 a0002c0004t0001g0028 others(10): Show a0002c0004t0001g0007 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0036 a0002c0004t0001g0039 a0002c0004t0001g0041 a0002c0004t0001g0049 a0002c0004t0001g0051 a0002c0004t0001g0053 a0002c0004t0001g0056 a0002c0004t0001g0222	14	372	0.0376	19	c.105 others(38): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAACA	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 NA18986.hp1 others(1): Show HG03490.hp2 HG03492.hp2 NA18986.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0176 a0001c0001t0002g0193 a0001c0001t0003g0033 a0001c0001t0002g0176 a0001c0001t0002g0193 a0001c0001t0003g0033	4	366	0.0109	19	c.483 others(34): Show c.483+204_483+222dupTTTTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP7_chr10_113674912_113735905	113687836	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	406	0.0025	19	c.-1+ others(34): Show c.-1+7858_-1+7859insTTTCTTTCTTTCTTTCTTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6			chr10	TogoVar
CASP9_chr1_15486401_15529215	15524569	A A	ATCCCCGC others(12): Show ATCCCCGCACTGACCTCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(210): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0003c0004 a0006c0009	a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 others(12): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0008 a0001c0003t0009 a0001c0003t0011 a0001c0005t0002 a0001c0010t0002 a0003c0004t0001 a0006c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0008 others(153): Show a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0007g0034 a0001c0002t0010g0187 a0001c0003t0002g0006 a0001c0003t0002g0009 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0039 a0001c0003t0002g0040 a0001c0003t0002g0195 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 a0001c0003t0002g0212 a0001c0003t0002g0213 a0001c0003t0002g0215 a0001c0003t0002g0216 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0002g0219 a0001c0003t0002g0220 a0001c0003t0002g0221 a0001c0003t0002g0222 a0001c0003t0002g0223 a0001c0003t0002g0224 a0001c0003t0002g0225 a0001c0003t0002g0226 a0001c0003t0002g0227 a0001c0003t0002g0228 a0001c0003t0002g0229 a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0002g0233 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0003t0002g0236 a0001c0003t0002g0237 a0001c0003t0002g0238 a0001c0003t0002g0239 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0003t0003g0041 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0249 a0001c0003t0004g0250 a0001c0003t0004g0251 a0001c0003t0004g0252 a0001c0003t0005g0038 a0001c0003t0006g0196 a0001c0003t0006g0197 a0001c0003t0008g0214 a0001c0003t0009g0203 a0001c0003t0011g0248 a0001c0005t0002g0042 a0001c0010t0002g0253 a0003c0004t0001g0180 a0003c0004t0001g0181 a0006c0009t0001g0127	213	350	0.6086	19	c.-38 others(28): Show c.-388_-370dupCGTGAGGTCAGTGCGGGGA	CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding		355		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115739124	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp2 others(160): Show HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0022 a0001c0006t0003 a0001c0010t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0004t0002 a0002c0004t0005 a0002c0004t0015 a0003c0005t0001	a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 others(158): Show a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0153 a0001c0001t0004g0192 a0001c0001t0004g0206 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0005g0002 a0001c0001t0005g0076 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0077 a0001c0002t0001g0157 a0001c0002t0001g0166 a0001c0002t0001g0175 a0001c0002t0003g0003 a0001c0002t0003g0035 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0086 a0001c0002t0003g0090 a0001c0002t0003g0140 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0173 a0001c0002t0003g0176 a0001c0002t0003g0181 a0001c0002t0003g0185 a0001c0002t0003g0189 a0001c0002t0003g0191 a0001c0002t0003g0193 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0002t0003g0205 a0001c0002t0003g0207 a0001c0002t0003g0209 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0230 a0001c0002t0003g0232 a0001c0002t0006g0040 a0001c0002t0006g0229 a0001c0002t0022g0178 a0001c0006t0003g0168 a0001c0006t0003g0169 a0001c0006t0003g0177 a0001c0006t0003g0183 a0001c0006t0003g0184 a0001c0010t0003g0208 a0002c0003t0001g0260 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0310 a0002c0003t0001g0313 a0002c0003t0001g0316 a0002c0003t0001g0317 a0002c0003t0001g0318 a0002c0003t0001g0323 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0333 a0002c0003t0001g0338 a0002c0003t0001g0340 a0002c0003t0001g0342 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0003g0257 a0002c0003t0003g0261 a0002c0003t0003g0262 a0002c0003t0003g0277 a0002c0003t0003g0341 a0002c0003t0006g0320 a0002c0003t0006g0321 a0002c0003t0006g0331 a0002c0003t0006g0351 a0002c0003t0006g0360 a0002c0004t0002g0255 a0002c0004t0002g0259 a0002c0004t0002g0263 a0002c0004t0002g0272 a0002c0004t0002g0274 a0002c0004t0002g0275 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0288 a0002c0004t0002g0312 a0002c0004t0002g0337 a0002c0004t0002g0343 a0002c0004t0005g0324 a0002c0004t0015g0330 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0253 a0003c0005t0001g0254	163	364	0.4478	19	c.421 others(34): Show c.421-790_421-789insAAAAAAAAAAAAAAAAAAA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	3/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761528	A A	AGAAGAAG others(12): Show AGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0259 a0002c0004t0002g0259	1	364	0.0028	19	c.234 others(36): Show c.234+6779_234+6780insCTTCTTCTTCTTCTTCTTC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASR_chr3_122178668_122296629	122252395	G G	GAAAAAGA others(12): Show GAAAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG04115.hp2 HG02896.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0002 a0001c0001t0010 a0002c0002t0002	a0001c0001t0010g0097 a0002c0002t0002g0157 a0001c0001t0010g0097 a0002c0002t0002g0157	2	314	0.0064	19	c.-24 others(38): Show c.-242-1551_-242-1550insAAAGAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252399	G G	GAAAAAGA others(12): Show GAAAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0093 a0001c0001t0009g0093	1	314	0.0032	19	c.-24 others(38): Show c.-242-1547_-242-1546insAAAGAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252403	G G	GAAAAAGA others(12): Show GAAAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0006 a0001c0001t0044 a0004c0003t0004 a0001c0001t0006 a0001c0001t0044 a0004c0003t0004	a0001c0001t0006g0155 a0001c0001t0044g0156 a0004c0003t0004g0092 a0001c0001t0006g0155 a0001c0001t0044g0156 a0004c0003t0004g0092	3	314	0.0096	19	c.-24 others(38): Show c.-242-1543_-242-1542insAAAGAAAGAAAGAAAGAAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252446	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0036 a0001c0001t0007g0037	2	314	0.0064	19	c.-24 others(38): Show c.-242-1500_-242-1499insGAAAGAAAGAAAGAAAGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASS4_chr20_56407260_56465382	56443469	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02056.hp1 HG03209.hp1 others(4): Show HG00738.hp2 HG02056.hp1 HG03209.hp1 HG03516.hp2 NA19043.hp1 NA19043.hp2 NA19075.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0008c0015	a0001c0001t0001 a0001c0002t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0004t0001 a0008c0015t0011	a0001c0001t0001g0075 a0001c0001t0001g0298 a0001c0001t0001g0332 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0298 a0001c0001t0001g0332 a0001c0002t0002g0118 a0002c0004t0001g0087 a0002c0004t0001g0102 a0008c0015t0011g0203	7	376	0.0186	19	c.460 others(36): Show c.460-2420_460-2419insAAAAAAAAAAAAAAAAAAA	CASS4	ENSG00000087589.17	transcript	ENST00000679887.1	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
CASTOR2_chr7_74959705_75036528	74963074	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01891.hp2 HG02040.hp2 others(12): Show HG01169.hp1 HG01891.hp2 HG02040.hp2 HG02056.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02922.hp1 HG03139.hp2 HG03209.hp1 NA19030.hp2 NA19043.hp1 NA19090.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0030 a0001c0001t0051 a0001c0001t0079 a0001c0001t0082 a0001c0001t0090 a0001c0005t0066	a0001c0001t0001g0005 a0001c0001t0005g0028 a0001c0001t0005g0035 others(12): Show a0001c0001t0001g0005 a0001c0001t0005g0028 a0001c0001t0005g0035 a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0013g0023 a0001c0001t0014g0102 a0001c0001t0017g0112 a0001c0001t0030g0177 a0001c0001t0051g0011 a0001c0001t0079g0009 a0001c0001t0082g0004 a0001c0001t0090g0093 a0001c0005t0066g0006	15	228	0.0658	19	c.-19 others(30): Show c.-1912_-1911insAAAAAAAAAAAAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding		1630		chr7	TogoVar
CASTOR2_chr7_74959705_75036528	75026188	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02572.hp1 others(1): Show HG01891.hp2 HG02280.hp2 HG02572.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0013g0022 others(1): Show a0001c0001t0013g0020 a0001c0001t0013g0021 a0001c0001t0013g0022 a0001c0001t0013g0023	4	228	0.0175	19	c.14 others(30): Show c.1489_*1490insTTTTTTTTTTTTTTTTTTT	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	9/9	1490		chr7	TogoVar
CAST_chr5_96657376_96779683	96680354	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02922.hp1 NA20129.hp1 HG02895.hp2 HG02922.hp1 NA20129.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0014 a0001c0001 a0008c0014	a0001c0001t0001 a0008c0014t0002 a0001c0001t0001 a0008c0014t0002	a0001c0001t0001g0109 a0008c0014t0002g0110 a0008c0014t0002g0111 a0001c0001t0001g0109 a0008c0014t0002g0110 a0008c0014t0002g0111	3	358	0.0084	19	c.138 others(36): Show c.138+4760_138+4778dupAAAAAAAAAAAAAAAAAAA	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CATIP_chr2_218351857_218373094	218357290	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	366	0.0027	19	c.118 others(34): Show c.118+103_118+104insCTCTCTCTCTCTCTCTCTC	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	2/9			chr2	TogoVar
CATIP_chr2_218351857_218373094	218359341	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	366	0.0027	19	c.376 others(36): Show c.376-1227_376-1209dupAAAAAAAAAAAAAAAAAAA	CATIP	ENSG00000158428.4	transcript	ENST00000289388.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CATSPER2_chr15_43623503_43653844	43638286	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0201 a0001c0001t0002g0187 a0001c0001t0002g0201	2	392	0.0051	19	c.842 others(34): Show c.842+617_842+618insAAAAAAAAAAAAAAAGAAA	CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	7/12			chr15	TogoVar
CATSPERB_chr14_91575698_91737086	91586563	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	271	0.0037	19	c.313 others(36): Show c.3132+638_3132+639insTCTCTCTCTCTCTCTCTCT	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	26/26			chr14	TogoVar
CATSPERB_chr14_91575698_91737086	91587477	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18942.hp1 HG02056.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0168 a0001c0001t0002g0040 a0001c0001t0002g0168	2	271	0.0074	19	c.305 others(36): Show c.3058-220_3058-202dupAAAAAAAAAAAAAAAAAAA	CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	25/26			chr14	TogoVar

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