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
CARD9_chr9_136358956_136378669	136363745	G G	GGCCCTGC others(9): Show GGCCCTGCCCCGGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	406	0.0025	16	c.55 others(25): Show c.556_*557insGGGGCCGGGGCAGGGC	CARD9	ENSG00000187796.16	transcript	ENST00000371732.10	protein_coding		210		chr9	TogoVar
CARF_chr2_202907275_202993263	202943587	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02040.hp2 NA19030.hp2 HG01167.hp2 HG02040.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0155 a0001c0001t0003g0181 a0001c0001t0005g0143 a0001c0001t0003g0155 a0001c0001t0003g0181 a0001c0001t0005g0143	3	334	0.0090	16	c.306 others(31): Show c.306+648_306+663dupCACACACACACACACA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202958247	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0105 a0001c0001t0035g0105	1	334	0.0030	16	c.642 others(33): Show c.642+2490_642+2491insGTGTGTGTGTGTGTGT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202958249	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(82): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02630.hp1 HG02818.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18939.hp1 NA18946.hp2 NA18951.hp2 NA18954.hp2 NA18965.hp2 NA18970.hp2 NA18974.hp1 NA18978.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(39): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0062 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0081 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0103 a0001c0001t0114 a0005c0006t0057	a0001c0001t0002g0005 a0001c0001t0002g0082 a0001c0001t0002g0085 others(79): Show a0001c0001t0002g0005 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0121 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0004g0053 a0001c0001t0005g0058 a0001c0001t0005g0069 a0001c0001t0005g0100 a0001c0001t0005g0107 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0007g0061 a0001c0001t0008g0035 a0001c0001t0008g0077 a0001c0001t0008g0078 a0001c0001t0008g0115 a0001c0001t0008g0117 a0001c0001t0014g0073 a0001c0001t0014g0102 a0001c0001t0014g0103 a0001c0001t0014g0104 a0001c0001t0014g0113 a0001c0001t0021g0003 a0001c0001t0021g0021 a0001c0001t0021g0022 a0001c0001t0024g0126 a0001c0001t0024g0134 a0001c0001t0025g0047 a0001c0001t0026g0086 a0001c0001t0026g0089 a0001c0001t0027g0045 a0001c0001t0027g0048 a0001c0001t0027g0050 a0001c0001t0028g0040 a0001c0001t0028g0092 a0001c0001t0028g0131 a0001c0001t0031g0263 a0001c0001t0035g0101 a0001c0001t0036g0033 a0001c0001t0036g0066 a0001c0001t0037g0084 a0001c0001t0037g0135 a0001c0001t0038g0056 a0001c0001t0039g0004 a0001c0001t0062g0122 a0001c0001t0064g0081 a0001c0001t0065g0032 a0001c0001t0066g0044 a0001c0001t0068g0123 a0001c0001t0070g0067 a0001c0001t0071g0039 a0001c0001t0072g0119 a0001c0001t0073g0083 a0001c0001t0074g0057 a0001c0001t0075g0137 a0001c0001t0076g0037 a0001c0001t0077g0042 a0001c0001t0079g0071 a0001c0001t0081g0041 a0001c0001t0084g0046 a0001c0001t0086g0118 a0001c0001t0087g0079 a0001c0001t0088g0065 a0001c0001t0089g0099 a0001c0001t0090g0064 a0001c0001t0103g0292 a0001c0001t0114g0116 a0005c0006t0057g0259	85	334	0.2545	16	c.642 others(33): Show c.642+2507_642+2522dupGTGTGTGTGTGTGTGT	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202980616	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 NA19088.hp2 HG00438.hp1 HG00544.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0064 a0001c0001t0074 a0001c0001t0001 a0001c0001t0064 a0001c0001t0074	a0001c0001t0001g0094 a0001c0001t0064g0081 a0001c0001t0074g0057 a0001c0001t0001g0094 a0001c0001t0064g0081 a0001c0001t0074g0057	3	334	0.0090	16	c.155 others(33): Show c.1559-908_1559-893dupTATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986868	G G	GTATATAT others(9): Show GTATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0099 a0002c0002t0099	a0002c0002t0099g0322 a0002c0002t0099g0322	1	334	0.0030	16	c.32 others(27): Show c.3269_*3284dupTATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3285	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARF_chr2_202907275_202993263	202986871	T T	TATATATA others(9): Show TATATATATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0091 a0001c0005t0091	a0001c0005t0091g0043 a0001c0005t0091g0043	1	334	0.0030	16	c.32 others(27): Show c.3262_*3263insCATATATATATATATA	CARF	ENSG00000138380.18	transcript	ENST00000438828.4	protein_coding	17/17	3263	INFO_REALIGN_3_PRIME	chr2	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CCTTTTTT others(9): Show CCTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	470	0.0021	16	c.31 others(27): Show c.3186_*3187insAAAAAAAAAAAAAAAG	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8851977	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01168.hp1 others(7): Show HG00140.hp2 HG01069.hp1 HG01168.hp1 HG01169.hp1 HG02015.hp2 NA18961.hp1 NA18966.hp2 NA18989.hp2 NA19007.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0034 a0001c0001t0002 a0001c0002t0002 a0001c0002t0034	a0001c0001t0002g0135 a0001c0002t0002g0119 a0001c0002t0002g0139 others(7): Show a0001c0001t0002g0135 a0001c0002t0002g0119 a0001c0002t0002g0139 a0001c0002t0002g0149 a0001c0002t0002g0156 a0001c0002t0002g0238 a0001c0002t0002g0243 a0001c0002t0002g0412 a0001c0002t0002g0438 a0001c0002t0034g0180	10	470	0.0213	16	c.31 others(27): Show c.3171_*3186dupAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding		969		chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTG others(9): Show GTTTTTTGTTTTTTGTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18999.hp2 NA18943.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0160 a0001c0002t0002g0232 a0001c0001t0002g0160 a0001c0002t0002g0232	2	470	0.0043	16	c.281 others(33): Show c.281+1086_281+1087insAACAAAAAACAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8857263	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02135.hp1 NA18941.hp1 others(1): Show HG02015.hp1 HG02135.hp1 NA18941.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0062 a0001c0001t0003g0215 a0001c0001t0003g0425 others(1): Show a0001c0001t0003g0062 a0001c0001t0003g0215 a0001c0001t0003g0425 a0001c0002t0003g0249	4	470	0.0085	16	c.281 others(33): Show c.281+1071_281+1086dupAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	3/3			chr16	TogoVar
CARHSP1_chr16_8847947_8874006	8861989	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18972.hp2 NA19011.hp2 others(2): Show NA18612.hp1 NA18972.hp2 NA19011.hp2 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0110 a0001c0001t0001g0262 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0110 a0001c0001t0001g0262 a0001c0001t0001g0400	5	470	0.0106	16	c.-7- others(31): Show c.-7-2670_-7-2655dupAAAAAAAAAAAAAAAA	CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3			chr16	TogoVar
CARMIL1_chr6_25274374_25625530	25281136	G G	GCGCGCGC others(9): Show GCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02148.hp2 HG04184.hp1 HG01433.hp2 HG02148.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0003	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0006t0003g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0006t0003g0049	3	186	0.0161	16	c.40+ others(31): Show c.40+1302_40+1303insGCGCGCACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296924	T T	TCTATCTA others(9): Show TCTATCTATCTATCTAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp1 HG00140.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0084 a0001c0006t0002g0087 a0001c0001t0001g0084 a0001c0006t0002g0087	2	186	0.0108	16	c.138 others(35): Show c.138+12025_138+12026insATCTAACTATCTATCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25296934	T T	TATCTATC others(9): Show TATCTATCTTTAACTAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0134 a0001c0003t0009g0134	1	186	0.0054	16	c.138 others(35): Show c.138+12025_138+12026insATCTATCTTTAACTAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36			chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332742	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0092 a0001c0003t0004g0092	1	186	0.0054	16	c.138 others(35): Show c.138+47848_138+47863dupACACACACACACACAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25332769	A A	ACACACAC others(9): Show ACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0014 a0001c0006t0014	a0001c0006t0014g0149 a0001c0006t0014g0149	1	186	0.0054	16	c.138 others(35): Show c.138+47863_138+47864insACACACACACACGCAC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441320	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0069 a0001c0006t0003g0069	1	186	0.0054	16	c.371 others(33): Show c.371+5719_371+5734dupATATATATATATATAT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441335	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02738.hp2 HG01192.hp1 HG02738.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0008 a0002c0005t0013 a0001c0003t0008 a0002c0005t0013	a0001c0003t0008g0127 a0002c0005t0013g0123 a0001c0003t0008g0127 a0002c0005t0013g0123	2	186	0.0108	16	c.371 others(33): Show c.371+5732_371+5733insGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG03209.hp1 HG00642.hp2 HG00738.hp2 HG03209.hp1	a0002 a0002	a0002c0007 a0002c0014 a0002c0007 a0002c0014	a0002c0007t0020 a0002c0014t0003 a0002c0007t0020 a0002c0014t0003	a0002c0007t0020g0181 a0002c0014t0003g0085 a0002c0014t0003g0086 a0002c0007t0020g0181 a0002c0014t0003g0085 a0002c0014t0003g0086	3	186	0.0161	16	c.371 others(33): Show c.371+5734_371+5735insATATATATATATATGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(9): Show ATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02818.hp2 HG02896.hp1 others(1): Show HG01106.hp2 HG02818.hp2 HG02896.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0006 a0002c0005 a0010c0020 a0001c0006 a0002c0005 a0010c0020	a0001c0006t0002 a0001c0006t0004 a0002c0005t0003 others(1): Show a0001c0006t0002 a0001c0006t0004 a0002c0005t0003 a0010c0020t0015	a0001c0006t0002g0110 a0001c0006t0004g0062 a0002c0005t0003g0045 others(1): Show a0001c0006t0002g0110 a0001c0006t0004g0062 a0002c0005t0003g0045 a0010c0020t0015g0160	4	186	0.0215	16	c.371 others(33): Show c.371+5734_371+5735insATATATATATATGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATAT others(9): Show ATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	186	0.0054	16	c.371 others(33): Show c.371+5734_371+5735insATATATGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATATGT others(9): Show ATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0005 a0003c0010t0005	a0003c0010t0005g0142 a0003c0010t0005g0142	1	186	0.0054	16	c.371 others(33): Show c.371+5734_371+5735insATATGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATATGTGT others(9): Show ATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02258.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0111 a0001c0002t0001g0009 a0001c0002t0001g0111	2	186	0.0108	16	c.371 others(33): Show c.371+5734_371+5735insATGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441337	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19011.hp1 HG00544.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0003g0128 a0001c0001t0001g0081 a0001c0001t0003g0128	2	186	0.0108	16	c.371 others(33): Show c.371+5753_371+5768dupGTGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25441353	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02970.hp1 HG02922.hp1 HG02970.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0030 a0001c0001 a0005c0030	a0001c0001t0008 a0005c0030t0005 a0001c0001t0008 a0005c0030t0005	a0001c0001t0008g0133 a0005c0030t0005g0159 a0001c0001t0008g0133 a0005c0030t0005g0159	2	186	0.0108	16	c.371 others(33): Show c.371+5764_371+5765insATGTGTGTGTGTGTGT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02257.hp2 HG02723.hp2 others(4): Show HG01952.hp1 HG02257.hp2 HG02723.hp2 HG03195.hp1 NA18983.hp1 NA18993.hp2 NA19072.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0002c0005 a0006c0016 a0009c0027	a0001c0001t0010 a0001c0003t0002 a0001c0008t0001 others(4): Show a0001c0001t0010 a0001c0003t0002 a0001c0008t0001 a0002c0005t0005 a0006c0016t0001 a0006c0016t0005 a0009c0027t0002	a0001c0001t0010g0140 a0001c0003t0002g0059 a0001c0008t0001g0100 others(4): Show a0001c0001t0010g0140 a0001c0003t0002g0059 a0001c0008t0001g0100 a0002c0005t0005g0158 a0006c0016t0001g0030 a0006c0016t0005g0165 a0009c0027t0002g0042	7	186	0.0376	16	c.615 others(33): Show c.615-6619_615-6604dupCTTTCTTTCTTTCTTT	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(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0029 a0001c0002t0011g0029	1	186	0.0054	16	c.206 others(33): Show c.2067+877_2067+892dupAAAAAAAAAAAAAAAA	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67424861	C C	CCACACAC others(9): Show CCACACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02165.hp2 HG03195.hp2 HG03579.hp1 others(7): Show HG02165.hp2 HG03195.hp2 HG03579.hp1 NA18963.hp2 NA18984.hp1 NA19043.hp2 NA19065.hp2 NA19082.hp1 NA19084.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0002c0002 a0001c0003 a0001c0004 a0002c0002	a0001c0003t0016 a0001c0003t0037 a0001c0004t0018 others(1): Show a0001c0003t0016 a0001c0003t0037 a0001c0004t0018 a0002c0002t0019	a0001c0003t0016g0003 a0001c0003t0016g0019 a0001c0003t0037g0019 others(4): Show a0001c0003t0016g0003 a0001c0003t0016g0019 a0001c0003t0037g0019 a0001c0004t0018g0021 a0001c0004t0018g0025 a0002c0002t0019g0004 a0002c0002t0019g0005	10	346	0.0289	16	c.27 others(25): Show c.276_*291dupACACACACACACACAC	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10	292	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	T T	TTCCTTCC others(9): Show TTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18522.hp2 HG03704.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0223 a0001c0001t0001g0193 a0001c0001t0001g0223	2	321	0.0062	16	c.802 others(33): Show c.802-2554_802-2553insGGGAGGGAAGGAAGGA	CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22			chr11	TogoVar
CARS2_chr13_110636417_110711116	110654926	A A	AAAAAAAA others(9): Show AAAAAAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	372	0.0027	16	c.988 others(33): Show c.988-3842_988-3827dupCTTTTTCTTTTTTTTT	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	9/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110679650	C C	CGGAGGGA others(9): Show CGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18964.hp2 HG02257.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0156 a0001c0003t0001g0300 a0001c0001t0002g0156 a0001c0003t0001g0300	2	372	0.0054	16	c.656 others(33): Show c.656-2563_656-2548dupCTCCCTCCCTCCCTCC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASC3_chr17_40135537_40177171	40140317	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02055.hp1 HG03130.hp1 others(3): Show HG00735.hp2 HG02055.hp1 HG03130.hp1 HG03209.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0086 a0001c0001t0001g0109 a0001c0001t0001g0172 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217	6	266	0.0226	16	c.-23 others(25): Show c.-232_-231insACACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		219		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140355	C C	CACACACA others(9): Show CACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	266	0.0038	16	c.-19 others(25): Show c.-194_-193insACACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		181		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140373	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 NA19060.hp1 HG01891.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0162 a0001c0001t0001g0111 a0001c0001t0001g0162	2	266	0.0075	16	c.-17 others(25): Show c.-176_-175insACACACACACACACAC	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		163		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140375	C C	CACACACA others(9): Show CACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	266	0.0038	16	c.-17 others(25): Show c.-174_-173insACACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		161		chr17	TogoVar
CASC3_chr17_40135537_40177171	40140377	C C	CACACACA others(9): Show CACACACACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01891.hp2 HG02132.hp1 others(4): Show HG00099.hp2 HG01891.hp2 HG02132.hp1 HG03492.hp1 NA18944.hp1 NA18966.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0215 a0001c0004t0001g0001	7	266	0.0263	16	c.-17 others(25): Show c.-172_-171insACACACACACACCCCA	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		159		chr17	TogoVar
CASC3_chr17_40135537_40177171	40172969	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG02723.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	266	0.0075	16	c.25 others(27): Show c.2564_*2565insTGTGTGTGTGTGTGTG	CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding		799		chr17	TogoVar
CASD1_chr7_94504809_94562019	94553786	T T	TTAAATAA others(9): Show TTAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp2 HG02056.hp1 others(3): Show HG00639.hp2 HG01257.hp2 HG02056.hp1 HG02615.hp2 HG03209.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0028 a0001c0001t0001g0086 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0086 a0001c0001t0001g0113 a0001c0001t0006g0219 a0001c0001t0006g0220	6	398	0.0151	16	c.203 others(33): Show c.2035-680_2035-665dupTAAATAAATAAATAAA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASD1_chr7_94504809_94562019	94559308	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18957.hp2 NA18962.hp2 others(5): Show NA18948.hp2 NA18957.hp2 NA18962.hp2 NA18987.hp2 NA19010.hp1 NA19056.hp1 NA19078.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0097 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0073 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0126	8	398	0.0201	16	c.35 others(27): Show c.3550_*3551insTGTGTGTGTGTGTGTA	CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding		2290		chr7	TogoVar
CASK_chrX_41509934_41928554	41710081	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	164	0.0061	16	c.429 others(35): Show c.429+29287_429+29302dupCACACACACACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	5/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770313	T T	TACCTACC others(9): Show TACCTACCTATCCATCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0003 a0001c0001t0024g0003	1	164	0.0061	16	c.278 others(35): Show c.278+16864_278+16865insGGATGGATAGGTAGGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41818145	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0003 a0001c0001t0024g0003	1	164	0.0061	16	c.173 others(35): Show c.173-30878_173-30863dupCACACACACACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02922.hp2 HG00673.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0084 a0001c0001t0003g0142 a0001c0001t0001g0084 a0001c0001t0003g0142	2	164	0.0122	16	c.172 others(35): Show c.172+23403_172+23418dupATATATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01952.hp1 HG02683.hp2 others(5): Show HG01934.hp1 HG01952.hp1 HG02683.hp2 HG03654.hp1 HG04199.hp1 NA19007.hp1 NA19074.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0002c0003t0001	a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0134 others(5): Show a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0158 a0001c0001t0003g0075 a0001c0002t0003g0124 a0002c0003t0001g0125	8	164	0.0488	16	c.60- others(33): Show c.60-16601_60-16586dupTTTTTTTTTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG02897.hp1 others(3): Show HG02572.hp2 HG02895.hp1 HG02897.hp1 HG03041.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0032 a0001c0001t0001 a0001c0001t0003 a0001c0001t0032	a0001c0001t0001g0045 a0001c0001t0003g0022 a0001c0001t0003g0075 others(2): Show a0001c0001t0001g0045 a0001c0001t0003g0022 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0032g0046	6	246	0.0244	16	c.225 others(30): Show c.225+95_225+110dupTTTTTTTTTTTTTTTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18945.hp1 NA18945.hp2 others(4): Show HG00280.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18965.hp1 NA19010.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0047 a0001c0001t0002g0186 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0047 a0001c0001t0002g0186 a0001c0001t0002g0212	7	366	0.0191	16	c.483 others(31): Show c.483+207_483+222dupTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP3_chr4_184622696_184654447	184651290	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	366	0.0027	16	c.-20 others(27): Show c.-2079_-2078insTTTTTTTTTTTTTTTT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		1844		chr4	TogoVar
CASP3_chr4_184622696_184654447	184652976	G G	GAGGGAGG others(9): Show GAGGGAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02723.hp1 HG02809.hp1 others(6): Show HG02280.hp2 HG02723.hp1 HG02809.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0083 a0001c0001t0004g0030 a0001c0001t0004g0054 others(5): Show a0001c0001t0001g0083 a0001c0001t0004g0030 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0095 a0001c0001t0013g0223	9	366	0.0246	16	c.-37 others(27): Show c.-3780_-3765dupTCCTTCCTTCCTCCCT	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		3530		chr4	TogoVar
CASP4_chr11_104937866_104973574	104950797	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	358	0.0028	16	c.546 others(31): Show c.546+112_546+127dupGTGTGTGTGTGTGTGT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	4/8			chr11	TogoVar

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