Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CACNB2_chr10_18335709_18548557	18522877	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	302	0.0033	-21	c.782 others(38): Show c.782+3925_782+3945delAAAAAAAAAAAAAAAAAAAAA		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG4_chr17_66959707_67038398	66990660	ATTTTATT others(14): Show ATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02257.hp2 others(3): Show HG01884.hp1 HG02055.hp1 HG02257.hp2 HG02615.hp1 HG03041.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0004t0001 a0002c0004t0003	a0001c0001t0002g0333 a0001c0001t0003g0273 a0001c0001t0005g0277 others(3): Show a0001c0001t0002g0333 a0001c0001t0003g0273 a0001c0001t0005g0277 a0001c0001t0005g0332 a0002c0004t0001g0272 a0002c0004t0003g0271	6	352	0.0171	-21	c.220 others(40): Show c.220+25533_220+25553delTATTTTATTTTATTTTATTTT		CACNG4	ENSG00000075461.6	transcript	ENST00000262138.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
CADM2_chr3_84953989_86079429	84992404	GCGGATCA others(14): Show GCGGATCACGAGGTCAAGAGAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01074.hp1 others(18): Show HG00140.hp1 HG00280.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01175.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01515.hp2 HG01981.hp1 HG01981.hp2 HG02129.hp2 HG02258.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03834.hp2 HG04115.hp1 NA18949.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0019 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0004t0001 a0001c0004t0033	a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0002g0119 others(18): Show a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0002g0119 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0004g0117 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0128 a0001c0001t0012g0129 a0001c0001t0019g0130 a0001c0001t0019g0131 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0028g0122 a0001c0001t0030g0116 a0001c0001t0031g0124 a0001c0001t0032g0112 a0001c0004t0001g0111 a0001c0004t0033g0110	21	146	0.1438	-21	c.61+ others(38): Show c.61+32739_61+32759delGATCACGAGGTCAAGAGATCG		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321114	ATATTTTT others(14): Show ATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03239.hp1 HG03704.hp2 others(1): Show HG01074.hp1 HG03239.hp1 HG03704.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0021 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021	a0001c0001t0004g0075 a0001c0001t0005g0123 a0001c0001t0021g0126 others(1): Show a0001c0001t0004g0075 a0001c0001t0005g0123 a0001c0001t0021g0126 a0001c0001t0021g0127	4	146	0.0274	-21	c.61+ others(40): Show c.61+361448_61+361468delATTTTTTTTTTTTTTTTTTTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321116	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	146	0.0069	-21	c.61+ others(40): Show c.61+361478_61+361498delTTTTTTTTTTTTTTTTTTTTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122399660	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01167.hp1 HG01192.hp2 others(26): Show HG00609.hp1 HG01167.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp1 HG02132.hp1 HG02132.hp2 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03669.hp2 HG04115.hp1 NA18944.hp2 NA18946.hp1 NA18984.hp1 NA18990.hp1 NA18999.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0010 a0001c0004t0002	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 others(26): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0002g0076 a0001c0001t0004g0099 a0001c0002t0002g0060 a0001c0002t0003g0116 a0001c0002t0004g0067 a0001c0002t0004g0102 a0001c0002t0004g0103 a0001c0002t0007g0086 a0001c0003t0001g0009 a0001c0003t0001g0011 a0001c0003t0001g0027 a0001c0003t0001g0041 a0001c0003t0001g0074 a0001c0003t0001g0085 a0001c0003t0001g0104 a0001c0003t0001g0115 a0001c0003t0001g0126 a0001c0003t0002g0023 a0001c0003t0002g0032 a0001c0003t0002g0082 a0001c0003t0002g0108 a0001c0003t0010g0109 a0001c0004t0002g0013 a0001c0004t0002g0033 a0001c0004t0002g0049 a0001c0004t0002g0093	29	126	0.2302	-21	c.274 others(40): Show c.2747-6099_2747-6079delAAAAAAAAAAAAAAAAAAAAA		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	20/29						chr7	TogoVar
CADPS2_chr7_122313411_122891460	122477016	AGGAGAGG others(14): Show AGGAGAGGAGAGGAGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	126	0.0079	-21	c.186 others(40): Show c.1862-2520_1862-2500delCTCTCCTCTCCTCTCCTCTCC		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	12/29						chr7	TogoVar
CADPS2_chr7_122313411_122891460	122528110	AGTGGTGG others(14): Show AGTGGTGGTGGTGGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01167.hp2 others(9): Show HG00280.hp1 HG01109.hp2 HG01167.hp2 HG01257.hp1 HG01346.hp2 HG01978.hp1 HG02683.hp2 HG03239.hp1 HG03669.hp1 HG06807.hp2 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0003t0001	a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0070 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0003g0031 a0001c0001t0009g0029 a0001c0003t0001g0110	12	126	0.0952	-21	c.147 others(42): Show c.1476-14816_1476-14796delCACCACCACCACCACCACCAC		CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	8/29						chr7	TogoVar
CALCR_chr7_93419486_93579724	93460567	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	292	0.0034	-21	c.648 others(36): Show c.648+233_648+253delATATATATATATATATTTTTT		CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13						chr7	TogoVar
CALML4_chr15_68185705_68210332	68200336	TTGGACTC others(14): Show TTGGACTCGGGCCCTGGTCCTG	T T	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	386	0.0026	-21	c.35- others(34): Show c.35-676_35-656delCAGGACCAGGGCCCGAGTCCA		CALML4	ENSG00000129007.16	transcript	ENST00000467889.3	protein_coding	2/4						chr15	TogoVar
CALN1_chr7_71774491_72417338	71971944	AAAAAAAA others(14): Show AAAAAAAAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	142	0.0070	-21	c.501 others(40): Show c.501+51692_501+51712delCTTTCTTTCTTTTTTTTTTTT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	72192625	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02055.hp2 others(18): Show HG01081.hp1 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp2 HG06807.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0036 a0001c0001t0043 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061	a0001c0001t0001g0061 a0001c0001t0001g0121 a0001c0001t0001g0124 others(18): Show a0001c0001t0001g0061 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0004g0066 a0001c0001t0004g0073 a0001c0001t0009g0031 a0001c0001t0010g0104 a0001c0001t0013g0062 a0001c0001t0013g0117 a0001c0001t0018g0063 a0001c0001t0036g0112 a0001c0001t0043g0064 a0001c0001t0048g0129 a0001c0001t0053g0135 a0001c0001t0054g0136 a0001c0001t0055g0134 a0001c0001t0057g0138 a0001c0001t0058g0139 a0001c0001t0059g0140 a0001c0001t0060g0141 a0001c0001t0061g0142	21	142	0.1479	-21	c.244 others(40): Show c.244+86040_244+86060delTAATAATAATAATAATAATAA		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	72290079	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01255.hp2 others(8): Show HG01109.hp1 HG01168.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG02486.hp1 HG02683.hp1 HG02735.hp1 HG02897.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0030 a0001c0001t0051 a0001c0001t0052 a0001c0001t0060	a0001c0001t0001g0079 a0001c0001t0002g0036 a0001c0001t0004g0066 others(8): Show a0001c0001t0001g0079 a0001c0001t0002g0036 a0001c0001t0004g0066 a0001c0001t0008g0027 a0001c0001t0012g0011 a0001c0001t0014g0046 a0001c0001t0020g0077 a0001c0001t0030g0020 a0001c0001t0051g0132 a0001c0001t0052g0133 a0001c0001t0060g0141	11	142	0.0775	-21	c.120 others(40): Show c.120-11290_120-11270delTTTTTTTTTTTTTTTTTTTTT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6						chr7	TogoVar
CALU_chr7_128734359_128778400	128763862	CCTTAACC others(14): Show CCTTAACCCTCAAGGTCAGGAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	338	0.0030	-21	c.644 others(38): Show c.644-3593_644-3573delCTTAACCCTCAAGGTCAGGAA		CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	5/6						chr7	TogoVar
CALY_chr10_133319072_133341896	133324022	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	250	0.0040	-21	c.15 others(32): Show c.1552_*1572delATTATTATTATTATTATTATT		CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding					49		chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12387424	ATTTTATA others(14): Show ATTTTATATATTATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 NA18522.hp1 others(1): Show HG02109.hp1 HG02630.hp2 NA18522.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0058 a0001c0001t0109 others(1): Show a0001c0001t0002 a0001c0001t0058 a0001c0001t0109 a0001c0002t0068	a0001c0001t0002g0041 a0001c0001t0058g0093 a0001c0001t0109g0161 others(1): Show a0001c0001t0002g0041 a0001c0001t0058g0093 a0001c0001t0109g0161 a0001c0002t0068g0021	4	214	0.0187	-21	c.92+ others(38): Show c.92+37516_92+37536delTTTATATATTATATATATTTT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691392	TATATATA others(14): Show TATATATATATAAATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0054 a0001c0001t0005g0054	1	214	0.0047	-21	c.299 others(40): Show c.299+24583_299+24603delATATATATATAAATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691394	TATATATA others(14): Show TATATATATAAATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0108 a0001c0002t0008g0108	1	214	0.0047	-21	c.299 others(40): Show c.299+24585_299+24605delATATATATAAATATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691396	TATATATA others(14): Show TATATATAAATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18954.hp1 HG01167.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0072 a0001c0001t0005 a0001c0001t0072	a0001c0001t0005g0040 a0001c0001t0072g0057 a0001c0001t0005g0040 a0001c0001t0072g0057	2	214	0.0094	-21	c.299 others(40): Show c.299+24587_299+24607delATATATAAATATATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691398	TATATAAA others(14): Show TATATAAATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0077 a0001c0002t0004g0077	1	214	0.0047	-21	c.299 others(40): Show c.299+24589_299+24609delATATAAATATATATATATATA		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10						chr10	TogoVar
CAMK2A_chr5_150214491_150294773	150245338	GCCTCCTC others(14): Show GCCTCCTCCTCCTCCTCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG01106.hp2 others(50): Show HG00408.hp1 HG00558.hp2 HG01106.hp2 HG01884.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03831.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18949.hp1 NA18950.hp2 NA18981.hp1 NA18982.hp2 NA18989.hp1 NA19000.hp2 NA19056.hp2 NA19074.hp2 NA19086.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0056 a0001c0001t0060 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0077 a0001c0001t0080 a0001c0001t0081 a0001c0001t0086 a0001c0001t0089	a0001c0001t0001g0059 a0001c0001t0001g0095 a0001c0001t0001g0098 others(50): Show a0001c0001t0001g0059 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0001g0274 a0001c0001t0001g0321 a0001c0001t0004g0037 a0001c0001t0004g0046 a0001c0001t0004g0151 a0001c0001t0004g0174 a0001c0001t0004g0244 a0001c0001t0004g0287 a0001c0001t0004g0292 a0001c0001t0005g0118 a0001c0001t0007g0197 a0001c0001t0007g0262 a0001c0001t0014g0016 a0001c0001t0014g0034 a0001c0001t0014g0298 a0001c0001t0014g0301 a0001c0001t0017g0030 a0001c0001t0024g0026 a0001c0001t0024g0027 a0001c0001t0024g0312 a0001c0001t0025g0067 a0001c0001t0025g0243 a0001c0001t0033g0019 a0001c0001t0033g0020 a0001c0001t0034g0270 a0001c0001t0035g0246 a0001c0001t0037g0036 a0001c0001t0056g0280 a0001c0001t0060g0024 a0001c0001t0064g0148 a0001c0001t0066g0062 a0001c0001t0067g0294 a0001c0001t0068g0250 a0001c0001t0070g0322 a0001c0001t0077g0045 a0001c0001t0080g0035 a0001c0001t0081g0247 a0001c0001t0086g0239 a0001c0001t0089g0249	53	338	0.1568	-21	c.944 others(36): Show c.944-158_944-138delAGGAGGAGGAGGAGGAGGAGG		CAMK2A	ENSG00000070808.17	transcript	ENST00000671881.1	protein_coding	12/18						chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469159	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0226 a0001c0001t0013g0226	1	246	0.0041	-21	c.626 others(38): Show c.626-4150_626-4130delAAAAAAAAAAAAATATATATA		CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469161	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02717.hp2 others(4): Show HG02486.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp2 HG02976.hp1 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0001t0161 a0001c0001t0164 others(4): Show a0001c0001t0013 a0001c0001t0161 a0001c0001t0164 a0001c0001t0165 a0001c0001t0167 a0001c0001t0168 a0001c0004t0094	a0001c0001t0013g0107 a0001c0001t0161g0040 a0001c0001t0164g0053 others(4): Show a0001c0001t0013g0107 a0001c0001t0161g0040 a0001c0001t0164g0053 a0001c0001t0165g0039 a0001c0001t0167g0052 a0001c0001t0168g0227 a0001c0004t0094g0222	7	246	0.0285	-21	c.626 others(38): Show c.626-4148_626-4128delAAAAAAAAAAATATATATATA		CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469163	AAAAAAAA others(14): Show AAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0162	a0001c0001t0162g0166 a0001c0001t0162g0166	1	246	0.0041	-21	c.626 others(38): Show c.626-4146_626-4126delAAAAAAAAATATATATATATA		CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKMT_chr2_44356947_44777592	44445645	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01192.hp1 others(11): Show HG00621.hp1 HG00735.hp1 HG01192.hp1 HG02055.hp1 HG02486.hp2 HG02615.hp1 HG02970.hp1 HG03017.hp1 HG03239.hp1 HG03831.hp1 HG04228.hp2 NA18945.hp2 NA18975.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0056 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0168 a0001c0001t0002g0024 a0001c0001t0004g0032	14	198	0.0707	-21	c.376 others(40): Show c.376+55368_376+55388delTTTTTTTTTTTTTTTTTTTTT		CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP3_chr19_7590863_7623304	7599289	CCCACCCA others(14): Show CCCACCCACCCCACTCATCCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20752.hp2 HG01109.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0197 a0001c0002t0001g0196 a0001c0001t0001g0197 a0001c0002t0001g0196	2	358	0.0056	-21	c.148 others(38): Show c.148+3169_148+3189delCCCACTCATCCATCCACCCAC		CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	7646389	TTGGAGGC others(14): Show TTGGAGGCCCTGGTGAGTTGGG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0031 a0001c0010t0004g0031	1	58	0.0172	-21	c.664 others(38): Show c.664+5854_664+5874delTGGGTGGAGGCCCTGGTGAGT		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CANX_chr5_179693967_179736641	179733341	CCGCCCGC others(14): Show CCGCCCGCCGCCACGGCCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02145.hp2 HG03516.hp1 HG00140.hp2 HG02145.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0001 a0001c0001t0007g0317 a0001c0001t0007g0319 a0001c0001t0002g0001 a0001c0001t0007g0317 a0001c0001t0007g0319	3	380	0.0079	-21	c.46 others(32): Show c.4698_*4718delCGCCCGCCGCCACGGCCCCGG		CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding					1701		chr5	TogoVar
CANX_chr5_179693967_179736641	179735185	AAATAAAT others(14): Show AAATAAATAAAATACAGTATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	380	0.0026	-21	c.65 others(32): Show c.6542_*6562delAATAAATAAAATACAGTATTT		CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding					3545		chr5	TogoVar
CAPN12_chr19_38725192_38749474	38728410	GCTCCTCC others(14): Show GCTCCTCCTCCTCCTCCTCCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01891.hp2 HG02055.hp1 others(24): Show HG00642.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp2 NA19240.hp1 NA21309.hp1	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0026	a0001c0003 a0004c0037 a0010c0015 others(1): Show a0001c0003 a0004c0037 a0010c0015 a0026c0038	a0001c0003t0002 a0004c0037t0002 a0010c0015t0002 others(1): Show a0001c0003t0002 a0004c0037t0002 a0010c0015t0002 a0026c0038t0002	a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0017 others(19): Show a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0017 a0001c0003t0002g0081 a0001c0003t0002g0154 a0001c0003t0002g0159 a0001c0003t0002g0163 a0001c0003t0002g0175 a0001c0003t0002g0197 a0001c0003t0002g0202 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0208 a0001c0003t0002g0218 a0001c0003t0002g0224 a0001c0003t0002g0225 a0001c0003t0002g0227 a0001c0003t0002g0234 a0001c0003t0002g0235 a0004c0037t0002g0226 a0010c0015t0002g0046 a0026c0038t0002g0162	27	342	0.0790	-21	c.24 others(32): Show c.2421_*2441delGAGGAGGAGGAGGAGGAGGAG		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding					1781		chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736455	CCCCCAGG others(14): Show CCCCCAGGGCAGTTTGACCAAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01123.hp2 others(3): Show HG00280.hp1 HG01099.hp1 HG01123.hp2 HG03041.hp2 NA18522.hp1 NA19010.hp1	a0003 a0024 a0003 a0024	a0003c0005 a0024c0018 a0003c0005 a0024c0018	a0003c0005t0004 a0024c0018t0004 a0003c0005t0004 a0024c0018t0004	a0003c0005t0004g0020 a0003c0005t0004g0031 a0003c0005t0004g0034 others(3): Show a0003c0005t0004g0020 a0003c0005t0004g0031 a0003c0005t0004g0034 a0003c0005t0004g0035 a0003c0005t0004g0036 a0024c0018t0004g0039	6	342	0.0175	-21	c.137 others(36): Show c.1374+76_1374+96delCTTGGTCAAACTGCCCTGGGG		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20						chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736467	TTTGACCA others(14): Show TTTGACCAAGCCCCAGGGCAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(172): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(11): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0014 a0018 a0020 a0021 a0025	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0013 a0001c0020 a0001c0024 a0001c0026 a0004c0008 a0004c0027 a0005c0007 a0006c0009 a0006c0019 a0006c0029 a0007c0012 a0008c0014 a0009c0039 a0012c0032 a0013c0030 a0014c0031 a0018c0023 a0020c0022 a0021c0021 a0025c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(40): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0006t0004 a0001c0006t0015 a0001c0011t0003 a0001c0013t0001 a0001c0020t0001 a0001c0024t0001 a0001c0026t0005 a0004c0008t0001 a0004c0008t0003 a0004c0008t0005 a0004c0008t0008 a0004c0027t0001 a0005c0007t0003 a0006c0009t0003 a0006c0019t0003 a0006c0029t0003 a0007c0012t0001 a0008c0014t0022 a0009c0039t0001 a0012c0032t0005 a0013c0030t0007 a0014c0031t0007 a0018c0023t0001 a0020c0022t0001 a0021c0021t0001 a0025c0017t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(150): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0003g0005 a0001c0001t0003g0275 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0307 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0303 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0309 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0257 a0001c0001t0007g0297 a0001c0001t0008g0259 a0001c0001t0009g0254 a0001c0001t0009g0255 a0001c0001t0010g0276 a0001c0001t0010g0279 a0001c0001t0011g0043 a0001c0001t0012g0042 a0001c0001t0013g0044 a0001c0001t0016g0142 a0001c0001t0017g0133 a0001c0002t0002g0179 a0001c0003t0001g0242 a0001c0003t0001g0243 a0001c0003t0002g0234 a0001c0003t0002g0235 a0001c0006t0001g0003 a0001c0006t0001g0096 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0006t0001g0101 a0001c0006t0001g0130 a0001c0006t0001g0131 a0001c0006t0001g0145 a0001c0006t0004g0025 a0001c0006t0015g0099 a0001c0011t0003g0260 a0001c0011t0003g0261 a0001c0011t0003g0262 a0001c0013t0001g0246 a0001c0013t0001g0247 a0001c0020t0001g0093 a0001c0024t0001g0078 a0001c0026t0005g0304 a0004c0008t0001g0135 a0004c0008t0001g0146 a0004c0008t0001g0147 a0004c0008t0001g0151 a0004c0008t0003g0282 a0004c0008t0005g0288 a0004c0008t0008g0258 a0004c0027t0001g0094 a0005c0007t0003g0265 a0005c0007t0003g0266 a0005c0007t0003g0267 a0005c0007t0003g0268 a0005c0007t0003g0269 a0005c0007t0003g0270 a0005c0007t0003g0271 a0005c0007t0003g0272 a0006c0009t0003g0009 a0006c0009t0003g0264 a0006c0019t0003g0273 a0006c0029t0003g0308 a0007c0012t0001g0010 a0008c0014t0022g0249 a0009c0039t0001g0248 a0012c0032t0005g0302 a0013c0030t0007g0300 a0014c0031t0007g0301 a0018c0023t0001g0240 a0020c0022t0001g0148 a0021c0021t0001g0095 a0025c0017t0003g0274	175	342	0.5117	-21	c.137 others(36): Show c.1374+64_1374+84delCCTGCCCTGGGGCTTGGTCAA		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20						chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736507	AGGTTGAC others(14): Show AGGTTGACCAAGCCCCAGGGCC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18970.hp2 NA19010.hp2 others(1): Show HG01433.hp2 NA18970.hp2 NA19010.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0021 a0001c0006t0001 a0001c0001t0005 a0001c0001t0021 a0001c0006t0001	a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0021g0256 others(1): Show a0001c0001t0005g0287 a0001c0001t0005g0289 a0001c0001t0021g0256 a0001c0006t0001g0102	4	342	0.0117	-21	c.137 others(36): Show c.1374+24_1374+44delGGCCCTGGGGCTTGGTCAACC		CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	11/20						chr19	TogoVar
CAPN13_chr2_30717771_30812446	30756981	CACAGCTT others(14): Show CACAGCTTAGCCTGGGGCATCA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0067 a0003c0004t0002g0067	1	384	0.0026	-21	c.866 others(38): Show c.866+1044_866+1064delTGATGCCCCAGGCTAAGCTGT		CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	8/22						chr2	TogoVar
CAPN13_chr2_30717771_30812446	30762630	CCTGGCAT others(14): Show CCTGGCATCACCTGCTTACCTG	C C	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	384	0.0026	-21	c.774 others(36): Show c.774+431_774+451delCAGGTAAGCAGGTGATGCCAG		CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22						chr2	TogoVar
CAPN13_chr2_30717771_30812446	30794475	GAAAACAG others(14): Show GAAAACAGTGTGGCAGTTTCCT	G G	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0339 a0002c0003t0002g0339	1	384	0.0026	-21	c.-32 others(38): Show c.-32-7139_-32-7119delAGGAAACTGCCACACTGTTTT		CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	1/22						chr2	TogoVar
CAPN9_chr1_230742388_230806989	230751594	AAAGAAAG others(14): Show AAAGAAAGAAAGAAAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01943.hp1 HG02273.hp1 others(2): Show HG00639.hp1 HG01943.hp1 HG02273.hp1 HG02602.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0004c0007t0001 a0001c0001t0001 a0001c0002t0001 a0004c0007t0001	a0001c0001t0001g0134 a0001c0001t0001g0228 a0001c0002t0001g0229 others(2): Show a0001c0001t0001g0134 a0001c0001t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0004c0007t0001g0135	5	394	0.0127	-21	c.214 others(38): Show c.214-3740_214-3720delGAAAGAAAGAAAGAGAAAGAA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800217	AAATAAGA others(14): Show AAATAAGAAAGAAAGAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp2 others(7): Show HG00323.hp1 HG00423.hp2 HG00438.hp2 HG01081.hp2 HG02602.hp2 NA18974.hp1 NA18991.hp1 NA18995.hp2 NA19055.hp1 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0004 a0004c0007 a0001c0003 a0003c0004 a0004c0007	a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 others(2): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0003c0004t0001 a0004c0007t0001	a0001c0003t0001g0045 a0001c0003t0001g0353 a0001c0003t0001g0369 others(7): Show a0001c0003t0001g0045 a0001c0003t0001g0353 a0001c0003t0001g0369 a0001c0003t0001g0385 a0001c0003t0003g0365 a0001c0003t0004g0368 a0003c0004t0001g0102 a0003c0004t0001g0116 a0003c0004t0001g0121 a0004c0007t0001g0156	10	394	0.0254	-21	c.204 others(40): Show c.2047-1350_2047-1330delTAAGAAAGAAAGAAGAAAGAA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPRIN1_chr11_34046731_34107610	34079905	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	246	0.0041	-21	c.826 others(36): Show c.826+155_826+175delTTTTTTTTTTTTTTTTTTTTT		CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPRIN1_chr11_34046731_34107610	34103733	CACAAAAA others(14): Show CACAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG04184.hp1 HG01243.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0037 a0001c0001t0002g0021 a0001c0001t0002g0037	2	246	0.0081	-21	c.43 others(32): Show c.4367_*4387delACAAAAAAAAAAAAAAAAAAA		CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding					1124		chr11	TogoVar
CAPZA2_chr7_116857587_116927049	116859902	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03041.hp2 HG02809.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0003 a0001c0001t0007 a0001c0002t0003	a0001c0001t0007g0112 a0001c0002t0003g0294 a0001c0001t0007g0112 a0001c0002t0003g0294	2	354	0.0057	-21	c.-27 others(32): Show c.-2709_-2689delTTTCTTTCTTTCTTTCTTTCT		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding					2684		chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0326 a0001c0002t0004g0326	1	354	0.0028	-21	c.40- others(36): Show c.40-7413_40-7393delTTTTTTTTTTTTTTTTTTTTT		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19471865	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp2 HG02055.hp1 others(8): Show HG00673.hp2 HG01109.hp2 HG02055.hp1 HG02572.hp2 HG02738.hp2 HG03688.hp1 HG03831.hp1 HG04199.hp2 NA18975.hp1 NA19010.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0073 others(8): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0110 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0324 a0001c0001t0004g0024 a0001c0001t0004g0147 a0001c0001t0018g0043	11	364	0.0302	-21	c.3+1 others(36): Show c.3+13550_3+13570delTTTTTTTTTTTTTTTTTTTTT		CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8						chr1	TogoVar
CARD10_chr22_37485362_37524415	37491124	TGGCTTGG others(14): Show TGGCTTGGGGAGAAGGTGCAGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0012 a0009c0024t0012	a0009c0024t0012g0124 a0009c0024t0012g0124	1	276	0.0036	-21	c.14 others(28): Show c.14_*34delCCTGCACCTTCTCCCCAAGCC		CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	20/20				14		chr22	TogoVar
CARD14_chr17_80165030_80214331	80170143	TGGGGCCC others(14): Show TGGGGCCCGAGAGTGGTCCCAG	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18943.hp1 NA18971.hp1 others(3): Show NA18612.hp2 NA18943.hp1 NA18971.hp1 NA18983.hp1 NA19011.hp2 NA19065.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0032	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0029 a0032c0038	a0001c0001t0002 a0002c0002t0001 a0002c0005t0001 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0005t0001 a0003c0029t0001 a0032c0038t0001	a0001c0001t0002g0037 a0001c0001t0002g0040 a0002c0002t0001g0038 others(3): Show a0001c0001t0002g0037 a0001c0001t0002g0040 a0002c0002t0001g0038 a0002c0005t0001g0041 a0003c0029t0001g0039 a0032c0038t0001g0042	6	376	0.0160	-21	c.-69 others(37): Show c.-690+91_-690+111delGCCCGAGAGTGGTCCCAGGGG		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD18_chr11_105132714_105144769	105132770	TTCTCACT others(14): Show TTCTCACTGTTCAATTCCCACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	432	0.0023	-21	c.53 others(32): Show c.5309_*5329delGGTGGGAATTGAACAGTGAGA		CARD18	ENSG00000255501.3	transcript	ENST00000530950.2	protein_coding					4943		chr11	TogoVar
CARHSP1_chr16_8847947_8874006	8861158	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0028 a0001c0002t0027g0028	1	470	0.0021	-21	c.-7- others(36): Show c.-7-1844_-7-1824delAAAAAAAAAAAAAAAAAAAAA		CARHSP1	ENSG00000153048.11	transcript	ENST00000311052.10	protein_coding	1/3						chr16	TogoVar
CARM1_chr19_10866553_10928075	10871619	GGCGGCGG others(14): Show GGCGGCGGCGGCGGCGGCGGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG02040.hp1 HG02074.hp2 others(16): Show HG00438.hp1 HG02040.hp1 HG02074.hp2 HG02965.hp1 HG02970.hp2 NA18522.hp1 NA18944.hp1 NA18952.hp2 NA18955.hp1 NA18964.hp1 NA18977.hp2 NA18986.hp2 NA18987.hp1 NA18995.hp2 NA19000.hp1 NA19043.hp1 NA19062.hp1 NA19086.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0002c0003	a0001c0001t0005 a0001c0001t0019 a0001c0001t0041 others(3): Show a0001c0001t0005 a0001c0001t0019 a0001c0001t0041 a0001c0005t0005 a0001c0009t0019 a0002c0003t0019	a0001c0001t0005g0001 a0001c0001t0005g0014 a0001c0001t0005g0029 others(16): Show a0001c0001t0005g0001 a0001c0001t0005g0014 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0032 a0001c0001t0005g0045 a0001c0001t0005g0050 a0001c0001t0005g0054 a0001c0001t0005g0056 a0001c0001t0005g0067 a0001c0001t0005g0078 a0001c0001t0005g0084 a0001c0001t0005g0088 a0001c0001t0005g0117 a0001c0001t0019g0338 a0001c0001t0041g0187 a0001c0005t0005g0089 a0001c0009t0019g0235 a0002c0003t0019g0093	19	354	0.0537	-21	c.-72 others(28): Show c.-72_-52delGGCGGCGGCAGCGGCGGCGGC		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16				52	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25450754	TCCTCCCT others(14): Show TCCTCCCTCCCTTCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19003.hp1 HG00438.hp2 NA19003.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0006 a0003c0017t0007 a0003c0017t0006 a0003c0017t0007	a0003c0017t0006g0103 a0003c0017t0007g0153 a0003c0017t0006g0103 a0003c0017t0007g0153	2	186	0.0108	-21	c.614 others(34): Show c.614+66_614+86delCTCCCTCCCTTCCTCCCTCCC		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL3_chr14_24047009_24074729	24061539	CCTGTGGC others(14): Show CCTGTGGCCATGCGGGTGGCCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18955.hp2 NA18955.hp2	a0023 a0023	a0023c0049 a0023c0049	a0023c0049t0001 a0023c0049t0001	a0023c0049t0001g0034 a0023c0049t0001g0034	1	414	0.0024	-21	c.234 others(30): Show c.2348_2368delCTGTGGCCATGCGGGTGGCCG	p.Pro others(19): Show p.Pro783_Glu790delinsGln	CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	27/40	2493/4589	2348/4119	783/1372			chr14	TogoVar

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