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
CASK_chrX_41509934_41928554	41770295	T T	TCTATCTA others(1): Show TCTATCTAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18953.hp1 NA18955.hp1 others(3): Show HG02300.hp1 NA18953.hp1 NA18955.hp1 NA18971.hp1 NA18989.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0154	6	164	0.0366	8	c.278 others(27): Show c.278+16882_278+16883insGTAGATAG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770313	T T	TACCTATC others(1): Show TACCTATCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03654.hp1 HG04199.hp1 others(2): Show HG01891.hp2 HG03654.hp1 HG04199.hp1 NA18952.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0128 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0003g0048	5	164	0.0305	8	c.278 others(27): Show c.278+16864_278+16865insGGATAGGT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41770313	T T	TATCCATC others(1): Show TATCCATCC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	164	0.0061	8	c.278 others(27): Show c.278+16857_278+16864dupGGATGGAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41818145	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19056.hp1 homoSapiens_chm13v2.hp1 NA19056.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0040 a0001c0001t0001g0028 a0001c0001t0001g0040	2	164	0.0122	8	c.173 others(27): Show c.173-30870_173-30863dupCACACACA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18960.hp1 NA19004.hp1 others(1): Show HG02965.hp1 NA18960.hp1 NA19004.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0028 a0001c0001t0001g0067 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0067 a0001c0001t0001g0148 a0001c0001t0010g0057	4	164	0.0244	8	c.172 others(27): Show c.172+23411_172+23418dupATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41829704	T T	TATATATA others(1): Show TATATATAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp1 HG01123.hp2 HG00323.hp1 HG01099.hp1 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0036	3	164	0.0183	8	c.172 others(27): Show c.172+23410_172+23411insGTATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41854222	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18994.hp1 HG03710.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0070 a0001c0001t0001g0076	2	164	0.0122	8	c.60- others(21): Show c.60-996_60-995insTGTGTGTG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41854224	G G	GCGCACAC others(1): Show GCGCACACA	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	164	0.0061	8	c.60- others(21): Show c.60-998_60-997insTGTGTGCG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02622.hp2 HG02895.hp1 others(1): Show HG01255.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0014g0052	4	164	0.0244	8	c.60- others(25): Show c.60-16593_60-16586dupTTTTTTTT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41887296	C C	CCACACAC others(1): Show CCACACACA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	164	0.0061	8	c.60- others(25): Show c.60-34077_60-34070dupTGTGTGTG	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASK_chrX_41509934_41928554	41912790	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(14): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00735.hp2 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG02683.hp1 HG02735.hp1 HG03490.hp1 HG04228.hp1 NA18957.hp2 NA18973.hp2 NA18990.hp1 NA19074.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0009 others(14): Show a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036	17	164	0.1037	8	c.59+ others(25): Show c.59+10132_59+10139dupTATATATA	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26			chrX	TogoVar
CASP1_chr11_105020508_105040144	105024698	T T	TAAAAAAA others(1): Show TAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01258.hp1 HG01884.hp2 others(5): Show HG01109.hp1 HG01258.hp1 HG01884.hp2 HG02896.hp2 HG03195.hp1 HG03579.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0012 a0001c0002t0006g0019 a0001c0002t0006g0026 a0001c0002t0006g0012 a0001c0002t0006g0019 a0001c0002t0006g0026	8	398	0.0201	8	c.15 others(19): Show c.1559_*1560insTTTTTTTT	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding		809		chr11	TogoVar
CASP1_chr11_105020508_105040144	105035616	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp2 others(9): Show HG01243.hp1 HG01361.hp1 HG01884.hp2 HG02055.hp2 HG02451.hp2 HG02717.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03688.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0007 a0001c0002t0003 a0001c0002t0006 others(1): Show a0001c0001t0007 a0001c0002t0003 a0001c0002t0006 a0001c0004t0004	a0001c0001t0007g0035 a0001c0002t0003g0003 a0001c0002t0003g0027 others(3): Show a0001c0001t0007g0035 a0001c0002t0003g0003 a0001c0002t0003g0027 a0001c0002t0006g0012 a0001c0004t0004g0008 a0001c0004t0004g0039	12	398	0.0302	8	c.-50 others(17): Show c.-504_-503insAAAAAAAA	CASP1	ENSG00000137752.25	transcript	ENST00000533400.6	protein_coding		473		chr11	TogoVar
CASP2_chr7_143283351_143312696	143291780	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01071.hp1 others(3): Show HG00735.hp2 HG00741.hp1 HG01071.hp1 HG02109.hp2 HG03471.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0001 a0001c0001t0010 a0001c0001t0013	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0010g0101 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0010g0101 a0001c0001t0010g0107 a0001c0001t0013g0021	6	246	0.0244	8	c.225 others(23): Show c.225+103_225+110dupTTTTTTTT	CASP2	ENSG00000106144.20	transcript	ENST00000310447.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASP3_chr4_184622696_184654447	184631542	T T	TCAAAAAA others(1): Show TCAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp1 HG01433.hp1 others(4): Show HG00735.hp2 HG01361.hp1 HG01433.hp1 HG02148.hp2 HG03490.hp1 HG03704.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014	a0001c0001t0005g0048 a0001c0001t0005g0196 a0001c0001t0005g0198 others(3): Show a0001c0001t0005g0048 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0005g0202 a0001c0001t0008g0065 a0001c0001t0014g0105	7	366	0.0191	8	c.483 others(23): Show c.483+222_483+223insTTTTTTTG	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding	6/7			chr4	TogoVar
CASP4_chr11_104937866_104973574	104944368	C C	CTCTCTCT others(1): Show CTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01891.hp1 HG02559.hp1 others(2): Show HG01070.hp2 HG01891.hp1 HG02559.hp1 HG02809.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0002c0004t0003 a0001c0001t0003 a0001c0001t0005 a0002c0004t0003	a0001c0001t0003g0078 a0001c0001t0005g0202 a0002c0004t0003g0057 others(2): Show a0001c0001t0003g0078 a0001c0001t0005g0202 a0002c0004t0003g0057 a0002c0004t0003g0058 a0002c0004t0003g0059	5	358	0.0140	8	c.5+ others(21): Show c.5+379_*5+380insCAGAGAGA	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	8/8			chr11	TogoVar
CASP4_chr11_104937866_104973574	104948815	G G	GAAACAGA others(1): Show GAAACAGAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0001c0009 others(3): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 a0001c0009t0001 a0001c0010t0001 a0004c0007t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(179): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0215 a0001c0001t0004g0045 a0001c0001t0004g0198 a0001c0001t0006g0216 a0001c0003t0002g0009 a0001c0003t0002g0205 a0001c0003t0002g0206 a0001c0003t0002g0208 a0001c0003t0002g0209 a0001c0003t0002g0210 a0001c0003t0002g0211 a0001c0003t0002g0212 a0001c0009t0001g0067 a0001c0010t0001g0047 a0004c0007t0001g0107 a0005c0008t0001g0142	302	358	0.8436	8	c.782 others(23): Show c.782-140_782-139insGTCTGTTT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	5/8			chr11	TogoVar
CASP4_chr11_104937866_104973574	104948817	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	3	358	0.0084	8	c.782 others(23): Show c.782-142_782-141insGTGTGTGT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	5/8			chr11	TogoVar
CASP4_chr11_104937866_104973574	104950797	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(142): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0005c0008	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0009t0001 a0001c0010t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(75): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0003t0001g0087 a0001c0003t0002g0009 a0001c0003t0002g0206 a0001c0003t0002g0208 a0001c0003t0002g0209 a0001c0009t0001g0067 a0001c0010t0001g0047 a0005c0008t0001g0142	145	358	0.4050	8	c.546 others(23): Show c.546+120_546+127dupGTGTGTGT	CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	4/8			chr11	TogoVar
CASP5_chr11_104989243_105028168	105009720	C C	CACACACA others(1): Show CACACACAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02273.hp1 HG03490.hp2 others(1): Show HG01361.hp1 HG02273.hp1 HG03490.hp2 HG03688.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0058 a0003c0003t0001g0060 a0003c0003t0001g0068 others(1): Show a0003c0003t0001g0058 a0003c0003t0001g0060 a0003c0003t0001g0068 a0004c0004t0001g0059	4	396	0.0101	8	c.8-7 others(19): Show c.8-741_8-740insATGTGTGT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASP5_chr11_104989243_105028168	105024698	T T	TAAAAAAA others(1): Show TAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01258.hp2 HG01884.hp1 others(5): Show HG01109.hp1 HG01258.hp2 HG01884.hp1 HG02896.hp1 HG03195.hp1 HG03579.hp1 NA19030.hp1 NA19043.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0005 a0004c0004 a0003c0003 a0003c0005 a0004c0004	a0003c0003t0001 a0003c0005t0001 a0004c0004t0001 a0003c0003t0001 a0003c0005t0001 a0004c0004t0001	a0003c0003t0001g0014 a0003c0003t0001g0045 a0003c0003t0001g0046 others(4): Show a0003c0003t0001g0014 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0050 a0003c0005t0001g0013 a0003c0005t0001g0049 a0004c0004t0001g0048	8	396	0.0202	8	c.-15 others(19): Show c.-1563_-1562insTTTTTTTT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding		1531		chr11	TogoVar
CASP6_chr4_109683628_109708445	109690247	A A	AAAAAACA others(1): Show AAAAAACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG02257.hp1 others(22): Show HG00735.hp1 HG01109.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0004 a0001c0001 a0001c0002 a0004c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0004c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0069 others(11): Show a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0110 a0001c0001t0001g0121 a0001c0001t0001g0195 a0001c0002t0001g0034 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0006g0011 a0001c0002t0006g0071 a0004c0004t0001g0035	25	416	0.0601	8	c.643 others(23): Show c.643+602_643+603insGTGTTTTT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding	6/6			chr4	TogoVar
CASP6_chr4_109683628_109708445	109706129	T T	TTATATAT others(1): Show TTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02602.hp2 HG03669.hp1 others(3): Show HG00438.hp2 HG02602.hp2 HG03669.hp1 NA19030.hp2 NA19065.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0006	a0001c0001t0001g0018 a0001c0001t0002g0001 a0001c0001t0003g0013 others(3): Show a0001c0001t0001g0018 a0001c0001t0002g0001 a0001c0001t0003g0013 a0001c0001t0004g0146 a0001c0001t0004g0151 a0001c0002t0006g0011	6	416	0.0144	8	c.-27 others(19): Show c.-2735_-2734insTATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2685		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706131	T T	TTATATAT others(1): Show TTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(24): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01168.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01978.hp2 HG02293.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03195.hp2 HG03688.hp2 NA18943.hp2 NA18957.hp2 NA18961.hp1 NA18977.hp2 NA19000.hp2 NA19006.hp2 NA19011.hp2 NA19043.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0163 a0001c0001t0001g0189 a0001c0001t0002g0001 others(16): Show a0001c0001t0001g0163 a0001c0001t0001g0189 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0048 a0001c0001t0002g0159 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0003g0015 a0001c0001t0003g0053 a0001c0001t0003g0174 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0005g0194 a0001c0001t0011g0160	27	416	0.0649	8	c.-27 others(19): Show c.-2737_-2736insTATATATA	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2687		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706168	T T	TACACATA others(1): Show TACACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 NA18940.hp2 NA18954.hp1 HG03654.hp2 NA18940.hp2 NA18954.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0009 a0003c0005t0003 a0003c0005t0010 a0001c0001t0009 a0003c0005t0003 a0003c0005t0010	a0001c0001t0009g0020 a0003c0005t0003g0092 a0003c0005t0010g0093 a0001c0001t0009g0020 a0003c0005t0003g0092 a0003c0005t0010g0093	3	416	0.0072	8	c.-27 others(19): Show c.-2774_-2773insGTATGTGT	CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding		2724		chr4	TogoVar
CASP7_chr10_113674912_113735905	113678968	C C	CGTGTGTG others(1): Show CGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG02897.hp1 HG02258.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381	3	406	0.0074	8	c.-10 others(19): Show c.-1011_-1010insGTGTGTGT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		943		chr10	TogoVar
CASP7_chr10_113674912_113735905	113687794	C C	CTCTTTCT others(1): Show CTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp1 HG01192.hp2 others(21): Show HG00597.hp2 HG01109.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG02135.hp1 HG02572.hp2 HG02622.hp2 HG02886.hp1 HG03209.hp1 HG03516.hp1 NA18612.hp1 NA18945.hp2 NA18955.hp1 NA18971.hp1 NA18984.hp2 NA19000.hp1 NA19012.hp2 NA19079.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0002c0002t0001 a0003c0003t0002	a0001c0001t0003g0207 a0001c0001t0004g0066 a0001c0001t0004g0154 others(21): Show a0001c0001t0003g0207 a0001c0001t0004g0066 a0001c0001t0004g0154 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0005g0057 a0001c0001t0005g0062 a0001c0001t0005g0266 a0001c0001t0006g0021 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0065 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0009g0378 a0002c0002t0001g0281 a0002c0002t0001g0288 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0383 a0003c0003t0002g0113 a0003c0003t0002g0114	24	406	0.0591	8	c.-1+ others(23): Show c.-1+7851_-1+7858dupTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687846	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03098.hp2 NA18612.hp1 others(6): Show HG02523.hp1 HG03098.hp2 NA18612.hp1 NA18956.hp1 NA18970.hp1 NA18974.hp2 NA19075.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0003g0348 a0001c0001t0005g0050 a0001c0001t0005g0051 others(6): Show a0001c0001t0003g0348 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0056 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0006g0064 a0001c0001t0006g0065	9	406	0.0222	8	c.-1+ others(23): Show c.-1+7905_-1+7912dupTTTCTTTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687916	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01123.hp1 HG01255.hp1 others(3): Show HG01081.hp2 HG01123.hp1 HG01255.hp1 HG01981.hp2 HG02698.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0005g0085 others(3): Show a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0005g0085 a0001c0001t0005g0108 a0002c0002t0001g0356 a0002c0002t0001g0363	6	406	0.0148	8	c.-1+ others(23): Show c.-1+7981_-1+7988dupCCTTCCTT	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP8_chr2_201255536_201292709	201268909	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp1 NA18986.hp1 HG02055.hp2 HG03098.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0234 a0001c0001t0004g0256 a0001c0002t0002g0124 a0001c0001t0001g0234 a0001c0001t0004g0256 a0001c0002t0002g0124	3	386	0.0078	8	c.305 others(25): Show c.305+2159_305+2166dupTGTGTGTG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP9_chr1_15486401_15529215	15490220	A A	ATATCTAT others(1): Show ATATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02080.hp1 HG02109.hp2 others(7): Show HG00544.hp1 HG02080.hp1 HG02109.hp2 HG02559.hp1 HG02683.hp2 HG02738.hp1 HG03710.hp1 NA18966.hp2 NA19077.hp1 NA19085.hp2	a0002 a0002	a0002c0001 a0002c0008 a0002c0001 a0002c0008	a0002c0001t0001 a0002c0008t0001 a0002c0001t0001 a0002c0008t0001	a0002c0001t0001g0003 a0002c0001t0001g0045 a0002c0001t0001g0077 others(6): Show a0002c0001t0001g0003 a0002c0001t0001g0045 a0002c0001t0001g0077 a0002c0001t0001g0079 a0002c0001t0001g0082 a0002c0001t0001g0104 a0002c0001t0001g0106 a0002c0001t0001g0108 a0002c0008t0001g0069	10	350	0.0286	8	c.27 others(19): Show c.2715_*2722dupGATAGATA	CASP9	ENSG00000132906.18	transcript	ENST00000333868.10	protein_coding		1180		chr1	TogoVar
CASQ1_chr1_160185575_160206886	160186086	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG01433.hp1 others(7): Show HG00639.hp1 HG01243.hp2 HG01433.hp1 HG02602.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 NA18747.hp1 NA18942.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0081	10	440	0.0227	8	c.-46 others(19): Show c.-4666_-4665insAAAAAAAA	CASQ1	ENSG00000143318.13	transcript	ENST00000368078.8	protein_coding		4488		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723274	C C	CATCTATC others(1): Show CATCTATCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01070.hp2 others(101): Show HG00323.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0004 a0002c0013	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 a0001c0007t0009 a0001c0007t0020 a0002c0003t0001 a0002c0004t0002 a0002c0004t0015 a0002c0004t0016 a0002c0004t0017 a0002c0013t0009	a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0053 others(100): Show a0001c0001t0002g0001 a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0153 a0001c0001t0002g0195 a0001c0001t0002g0233 a0001c0001t0005g0162 a0001c0001t0008g0021 a0001c0001t0008g0024 a0001c0001t0008g0026 a0001c0001t0008g0033 a0001c0001t0008g0034 a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0001t0015g0054 a0001c0001t0021g0125 a0001c0002t0001g0057 a0001c0002t0012g0025 a0001c0002t0012g0028 a0001c0002t0013g0027 a0001c0007t0009g0163 a0001c0007t0009g0179 a0001c0007t0009g0180 a0001c0007t0020g0023 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0004t0002g0258 a0002c0004t0002g0263 a0002c0004t0002g0272 a0002c0004t0002g0275 a0002c0004t0002g0288 a0002c0004t0002g0289 a0002c0004t0002g0308 a0002c0004t0002g0312 a0002c0004t0002g0325 a0002c0004t0002g0334 a0002c0004t0002g0337 a0002c0004t0002g0343 a0002c0004t0015g0330 a0002c0004t0016g0005 a0002c0004t0017g0011 a0002c0013t0009g0309	104	364	0.2857	8	c.783 others(25): Show c.783+2226_783+2233dupAGATAGAT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723274	C C	CTATCATC others(1): Show CTATCATCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00673.hp2 others(15): Show HG00438.hp2 HG00621.hp2 HG00673.hp2 HG01192.hp1 HG02040.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02717.hp2 HG03471.hp2 HG03688.hp2 NA18961.hp2 NA18982.hp2 NA18989.hp1 NA18990.hp1 NA18999.hp2 NA19002.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0175 a0002c0003t0001g0260 a0002c0003t0001g0264 others(15): Show a0001c0002t0001g0175 a0002c0003t0001g0260 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0299 a0002c0003t0001g0301 a0002c0003t0001g0303 a0002c0003t0001g0316 a0002c0003t0001g0318 a0002c0003t0001g0338 a0002c0003t0001g0342 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0353 a0002c0003t0001g0354	18	364	0.0495	8	c.783 others(25): Show c.783+2233_783+2234insAGATGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723293	A A	ATATCTAT others(1): Show ATATCTATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02258.hp1 others(5): Show HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02965.hp1 HG03453.hp1 HG06807.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0008 a0001c0002t0012 a0001c0002t0013 others(2): Show a0001c0001t0008 a0001c0002t0012 a0001c0002t0013 a0001c0007t0009 a0001c0007t0020	a0001c0001t0008g0024 a0001c0001t0008g0033 a0001c0002t0012g0025 others(5): Show a0001c0001t0008g0024 a0001c0001t0008g0033 a0001c0002t0012g0025 a0001c0002t0013g0027 a0001c0007t0009g0163 a0001c0007t0009g0179 a0001c0007t0009g0180 a0001c0007t0020g0023	8	364	0.0220	8	c.783 others(25): Show c.783+2214_783+2215insAATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115723305	T T	TTATCTAT others(1): Show TTATCTATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp1 HG01981.hp1 others(44): Show HG00323.hp1 HG01192.hp1 HG01981.hp1 HG02055.hp1 HG02129.hp2 HG02155.hp1 HG02523.hp2 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02976.hp1 HG03239.hp2 HG03471.hp2 HG03654.hp1 HG03654.hp2 HG03834.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18990.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp2 NA19030.hp1 NA19056.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19078.hp1 NA19080.hp1 NA19084.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0003c0012 a0004c0008	a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 others(8): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 a0001c0002t0001 a0002c0003t0001 a0002c0003t0003 a0002c0004t0002 a0002c0004t0004 a0002c0004t0017 a0003c0012t0004 a0004c0008t0001	a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0067 others(44): Show a0001c0001t0002g0050 a0001c0001t0002g0053 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0087 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0153 a0001c0001t0002g0195 a0001c0001t0008g0021 a0001c0001t0008g0034 a0001c0001t0021g0125 a0001c0002t0001g0175 a0002c0003t0001g0299 a0002c0003t0001g0349 a0002c0003t0001g0353 a0002c0003t0001g0354 a0002c0003t0003g0256 a0002c0004t0002g0255 a0002c0004t0002g0258 a0002c0004t0002g0263 a0002c0004t0002g0288 a0002c0004t0002g0289 a0002c0004t0002g0308 a0002c0004t0002g0334 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0297 a0002c0004t0004g0306 a0002c0004t0017g0011 a0003c0012t0004g0244 a0004c0008t0001g0361	47	364	0.1291	8	c.783 others(25): Show c.783+2195_783+2202dupGATAGATA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	7/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115743197	G G	GTTTATTT others(1): Show GTTTATTTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03195.hp2 HG03486.hp2 others(4): Show HG02818.hp2 HG03195.hp2 HG03486.hp2 NA18939.hp2 NA18971.hp1 NA19030.hp2 NA19056.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0002c0003 a0002c0004 others(2): Show a0001c0002 a0002c0003 a0002c0004 a0003c0012 a0006c0011	a0001c0002t0001 a0002c0003t0007 a0002c0004t0004 others(2): Show a0001c0002t0001 a0002c0003t0007 a0002c0004t0004 a0003c0012t0004 a0006c0011t0001	a0001c0002t0001g0055 a0002c0003t0007g0018 a0002c0003t0007g0019 others(4): Show a0001c0002t0001g0055 a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0004t0004g0266 a0002c0004t0004g0291 a0003c0012t0004g0244 a0006c0011t0001g0139	7	364	0.0192	8	c.319 others(25): Show c.319+1623_319+1630dupTAAATAAA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	2/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115766865	T T	TGATAGAT others(1): Show TGATAGATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01517.hp2 HG02451.hp2 others(8): Show HG01175.hp2 HG01517.hp2 HG02451.hp2 HG03486.hp1 HG04199.hp2 NA18612.hp2 NA18946.hp1 NA18952.hp2 NA18966.hp1 NA19043.hp2 NA19067.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0004c0008	a0001c0001t0002 a0001c0002t0003 a0002c0003t0001 others(3): Show a0001c0001t0002 a0001c0002t0003 a0002c0003t0001 a0002c0003t0006 a0003c0005t0001 a0004c0008t0003	a0001c0001t0002g0233 a0001c0002t0003g0049 a0001c0002t0003g0231 others(8): Show a0001c0001t0002g0233 a0001c0002t0003g0049 a0001c0002t0003g0231 a0001c0002t0003g0232 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0006g0359 a0003c0005t0001g0253 a0003c0005t0001g0254 a0004c0008t0003g0358	11	364	0.0302	8	c.234 others(25): Show c.234+1435_234+1442dupTATCTATC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115768745	G G	GCACACAC others(1): Show GCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(100): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01934.hp1 HG01943.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02132.hp1 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18952.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19084.hp2 NA19086.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0004 a0002c0013 others(3): Show a0002c0003 a0002c0004 a0002c0013 a0003c0005 a0003c0012 a0004c0008	a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 others(9): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0004t0015 a0002c0013t0009 a0003c0005t0001 a0003c0012t0004 a0004c0008t0001 a0004c0008t0003	a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0281 others(100): Show a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0304 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0313 a0002c0003t0001g0317 a0002c0003t0001g0323 a0002c0003t0001g0326 a0002c0003t0001g0328 a0002c0003t0001g0329 a0002c0003t0001g0333 a0002c0003t0001g0340 a0002c0003t0001g0347 a0002c0003t0001g0349 a0002c0003t0001g0353 a0002c0003t0001g0355 a0002c0003t0001g0356 a0002c0003t0001g0357 a0002c0003t0003g0256 a0002c0003t0003g0257 a0002c0003t0003g0261 a0002c0003t0003g0262 a0002c0003t0003g0277 a0002c0003t0003g0341 a0002c0003t0006g0320 a0002c0003t0006g0321 a0002c0003t0006g0351 a0002c0003t0006g0359 a0002c0003t0006g0360 a0002c0004t0002g0255 a0002c0004t0002g0259 a0002c0004t0002g0278 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0288 a0002c0004t0002g0289 a0002c0004t0002g0322 a0002c0004t0002g0325 a0002c0004t0002g0327 a0002c0004t0002g0334 a0002c0004t0002g0337 a0002c0004t0002g0352 a0002c0004t0004g0266 a0002c0004t0004g0269 a0002c0004t0004g0276 a0002c0004t0004g0282 a0002c0004t0004g0287 a0002c0004t0004g0290 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0293 a0002c0004t0004g0294 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0302 a0002c0004t0004g0306 a0002c0004t0004g0307 a0002c0004t0004g0319 a0002c0004t0004g0332 a0002c0004t0004g0335 a0002c0004t0004g0336 a0002c0004t0004g0339 a0002c0004t0004g0346 a0002c0004t0004g0350 a0002c0004t0005g0324 a0002c0004t0015g0330 a0002c0013t0009g0309 a0003c0005t0001g0234 a0003c0005t0001g0235 a0003c0005t0001g0236 a0003c0005t0001g0237 a0003c0005t0001g0238 a0003c0005t0001g0239 a0003c0005t0001g0240 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0245 a0003c0005t0001g0246 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0249 a0003c0005t0001g0250 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0253 a0003c0005t0001g0254 a0003c0012t0004g0244 a0004c0008t0001g0273 a0004c0008t0001g0314 a0004c0008t0001g0315 a0004c0008t0001g0361 a0004c0008t0003g0358	103	364	0.2830	8	c.-21 others(17): Show c.-212_-205dupTGTGTGTG	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding		32		chr1	TogoVar
CASQ2_chr1_115695021_115773714	115773214	C C	CTGTGTGT others(1): Show CTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02015.hp2 HG03239.hp2 others(2): Show HG01106.hp2 HG02015.hp2 HG03239.hp2 NA18747.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0003 others(1): Show a0001c0002 a0001c0006 a0002c0003 a0002c0004	a0001c0002t0003 a0001c0006t0003 a0002c0003t0001 others(2): Show a0001c0002t0003 a0001c0006t0003 a0002c0003t0001 a0002c0003t0003 a0002c0004t0002	a0001c0002t0003g0202 a0001c0006t0003g0182 a0002c0003t0001g0328 others(2): Show a0001c0002t0003g0202 a0001c0006t0003g0182 a0002c0003t0001g0328 a0002c0003t0003g0341 a0002c0004t0002g0258	5	364	0.0137	8	c.-46 others(19): Show c.-4674_-4673insCACACACA	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding		4501		chr1	TogoVar
CASR_chr3_122178668_122296629	122252362	A A	AGAAGGAA others(1): Show AGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG04204.hp2 NA18953.hp2 others(4): Show HG02129.hp1 HG04204.hp2 NA18953.hp2 NA18957.hp2 NA18968.hp2 NA18994.hp2 NA19005.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0004c0003t0004	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0074 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0074 a0002c0002t0002g0068 a0002c0002t0002g0095 a0002c0002t0012g0067 a0004c0003t0004g0251	7	314	0.0223	8	c.-24 others(27): Show c.-242-1546_-242-1539dupGGAAGGAA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASR_chr3_122178668_122296629	122252409	A A	AGGAAAAA others(1): Show AGGAAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02976.hp1 others(3): Show HG02258.hp1 HG02559.hp2 HG02976.hp1 NA18989.hp2 NA18993.hp1 NA19003.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0002 a0002c0002t0017 a0003c0004t0008 a0002c0002t0002 a0002c0002t0017 a0003c0004t0008	a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0017g0216 others(3): Show a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0017g0216 a0003c0004t0008g0163 a0003c0004t0008g0193 a0003c0004t0008g0194	6	314	0.0191	8	c.-24 others(27): Show c.-242-1539_-242-1538insGGAAAAAG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6			chr3	TogoVar
CASR_chr3_122178668_122296629	122272091	G G	GTACACAC others(1): Show GTACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01081.hp1 others(27): Show HG00639.hp1 HG00642.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02486.hp2 HG02615.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0041 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044	a0001c0001t0003g0016 a0001c0001t0003g0024 a0001c0001t0003g0025 others(27): Show a0001c0001t0003g0016 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0089 a0001c0001t0003g0105 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0190 a0001c0001t0003g0199 a0001c0001t0003g0280 a0001c0001t0014g0175 a0001c0001t0014g0178 a0001c0001t0014g0184 a0001c0001t0014g0185 a0001c0001t0041g0149 a0001c0001t0042g0196 a0001c0001t0044g0156	30	314	0.0955	8	c.137 others(27): Show c.1378-3721_1378-3720insTACACACA	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	4/6			chr3	TogoVar
CASTOR2_chr7_74959705_75036528	74978063	G G	GATCTCTG others(1): Show GATCTCTGC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01346.hp1 HG02976.hp2 others(1): Show HG01071.hp2 HG01346.hp1 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0065 a0001c0001t0003 a0001c0001t0028 a0001c0001t0065	a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0028g0189 others(1): Show a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0028g0189 a0001c0001t0065g0103	4	228	0.0175	8	c.113 others(27): Show c.113+12966_113+12973dupATCTCTGC	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CASTOR2_chr7_74959705_75036528	74995511	G G	GAAAAAAA others(1): Show GAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01346.hp1 HG01433.hp2 others(21): Show HG01071.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01891.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp1 HG02572.hp1 HG02630.hp1 HG02818.hp1 HG03139.hp2 HG03209.hp1 HG03516.hp1 HG03831.hp1 NA18522.hp1 NA18960.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0029 a0001c0001t0031 a0001c0001t0051 a0001c0001t0057 a0001c0001t0076 a0001c0001t0079 a0001c0001t0082 a0001c0001t0090 a0001c0005t0066	a0001c0001t0001g0044 a0001c0001t0002g0176 a0001c0001t0003g0088 others(21): Show a0001c0001t0001g0044 a0001c0001t0002g0176 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0010g0116 a0001c0001t0010g0156 a0001c0001t0012g0072 a0001c0001t0013g0020 a0001c0001t0013g0022 a0001c0001t0013g0023 a0001c0001t0018g0124 a0001c0001t0029g0064 a0001c0001t0029g0065 a0001c0001t0031g0092 a0001c0001t0051g0011 a0001c0001t0057g0015 a0001c0001t0076g0107 a0001c0001t0079g0009 a0001c0001t0082g0004 a0001c0001t0090g0093 a0001c0005t0066g0006	24	228	0.1053	8	c.114 others(27): Show c.114-12476_114-12469dupAAAAAAAA	CASTOR2	ENSG00000274070.2	transcript	ENST00000616305.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAST_chr5_96657376_96779683	96666257	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp2 others(90): Show HG00099.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02055.hp2 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02723.hp1 HG02896.hp2 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18973.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0012 a0013	a0001c0001 a0001c0002 a0001c0021 others(6): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0002c0004 a0003c0007 a0004c0008 a0012c0025 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0022 a0001c0002t0001 a0001c0021t0009 a0002c0003t0003 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0003c0007t0002 a0004c0008t0011 a0012c0025t0001 a0013c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(84): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0253 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0002g0001 a0001c0001t0002g0036 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0006g0010 a0001c0001t0007g0255 a0001c0001t0010g0023 a0001c0001t0010g0038 a0001c0001t0016g0004 a0001c0001t0022g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0021t0009g0035 a0002c0003t0003g0174 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0113 a0002c0004t0001g0115 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0120 a0002c0004t0002g0144 a0002c0004t0003g0006 a0002c0004t0003g0260 a0002c0004t0003g0297 a0002c0004t0003g0298 a0002c0004t0003g0299 a0002c0004t0003g0300 a0003c0007t0002g0020 a0003c0007t0002g0252 a0003c0007t0002g0254 a0004c0008t0011g0037 a0012c0025t0001g0019 a0013c0019t0001g0114	93	358	0.2598	8	c.75+ others(23): Show c.75+3775_75+3782dupACACACAC	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAST_chr5_96657376_96779683	96723116	T T	TTTCGTTT others(1): Show TTTCGTTTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02630.hp1 others(6): Show HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG03516.hp1 HG03579.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0005 a0002c0022 a0004c0029 a0001c0005 a0002c0022 a0004c0029	a0001c0005t0001 a0001c0005t0007 a0001c0005t0009 others(2): Show a0001c0005t0001 a0001c0005t0007 a0001c0005t0009 a0002c0022t0013 a0004c0029t0001	a0001c0005t0001g0244 a0001c0005t0007g0242 a0001c0005t0007g0243 others(5): Show a0001c0005t0001g0244 a0001c0005t0007g0242 a0001c0005t0007g0243 a0001c0005t0007g0251 a0001c0005t0009g0007 a0001c0005t0009g0189 a0002c0022t0013g0188 a0004c0029t0001g0187	9	358	0.0251	8	c.270 others(23): Show c.270+420_270+421insCGTTTGTT	CAST	ENSG00000153113.24	transcript	ENST00000675179.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CASZ1_chr1_10631604_10801646	10685676	C C	CGAAGCTG others(1): Show CGAAGCTGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp2 HG02809.hp2 others(1): Show HG02451.hp1 HG02622.hp2 HG02809.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0029 a0001c0002 a0002c0029	a0001c0002t0007 a0001c0002t0025 a0002c0029t0059 a0001c0002t0007 a0001c0002t0025 a0002c0029t0059	a0001c0002t0007g0060 a0001c0002t0025g0070 a0001c0002t0025g0141 others(1): Show a0001c0002t0007g0060 a0001c0002t0025g0070 a0001c0002t0025g0141 a0002c0029t0059g0140	4	236	0.0170	8	c.16+ others(23): Show c.16+8190_16+8197dupCCAGCTTC	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	4/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10700080	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02257.hp2 others(6): Show HG01884.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03239.hp2 NA21309.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0011	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0012 a0004c0005 a0006c0017 a0011c0042	a0001c0001t0008 a0001c0003t0002 a0001c0003t0006 others(5): Show a0001c0001t0008 a0001c0003t0002 a0001c0003t0006 a0001c0004t0002 a0001c0012t0001 a0004c0005t0001 a0006c0017t0041 a0011c0042t0002	a0001c0001t0008g0023 a0001c0003t0002g0050 a0001c0003t0002g0183 others(6): Show a0001c0001t0008g0023 a0001c0003t0002g0050 a0001c0003t0002g0183 a0001c0003t0006g0054 a0001c0004t0002g0225 a0001c0012t0001g0058 a0004c0005t0001g0111 a0006c0017t0041g0090 a0011c0042t0002g0055	9	236	0.0381	8	c.-24 others(25): Show c.-24+5404_-24+5411dupGTGTGTGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar
CASZ1_chr1_10631604_10801646	10702962	C C	CAGAGAGA others(1): Show CAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01258.hp1 HG01981.hp1 others(5): Show HG00621.hp2 HG01258.hp1 HG01981.hp1 HG03669.hp1 HG03927.hp1 HG04228.hp2 NA19009.hp1 NA19074.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0021 a0001c0001 a0001c0002 a0013c0021	a0001c0001t0001 a0001c0001t0050 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0050 a0001c0002t0002 a0001c0002t0020 a0001c0002t0029 a0013c0021t0001	a0001c0001t0001g0179 a0001c0001t0001g0232 a0001c0001t0050g0136 others(5): Show a0001c0001t0001g0179 a0001c0001t0001g0232 a0001c0001t0050g0136 a0001c0002t0002g0161 a0001c0002t0002g0201 a0001c0002t0020g0008 a0001c0002t0029g0007 a0013c0021t0001g0193	8	236	0.0339	8	c.-24 others(25): Show c.-24+2522_-24+2529dupCTCTCTCT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	3/20			chr1	TogoVar

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