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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CREBZF_chr11_85652990_85670129	85670058	CGGCCTCC others(20): Show CGGCCTCCCAAAGTGCTGGGATTACAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	392	0.0026	-27	c.-52 others(38): Show c.-5210_-5184delCCTGTAATCCCAGCACTTTGGGAGGCC	CREBZF	ENSG00000137504.15	transcript	ENST00000527447.2	protein_coding		4930		chr11	TogoVar
CRISP2_chr6_49687359_49718543	49702139	CTATATAT others(20): Show CTATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp2 HG00735.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	2	410	0.0049	-27	c.67- others(42): Show c.67-1382_67-1356delATATATATATATATATATATATATATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CROCC2_chr2_240901336_240998311	240985153	CCACACAC others(20): Show CCACACACACACCCAGGCTCTCACTCCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0016 a0016	a0016c0073 a0016c0073	a0016c0073t0007 a0016c0073t0007	a0016c0073t0007g0166 a0016c0073t0007g0166	1	350	0.0029	-27	c.455 others(46): Show c.4551+2134_4551+2160delACCCAGGCTCTCACTCCACACACACA C	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTAC1_chr10_97860000_98035621	98029491	AGCGGCGG others(20): Show AGCGGCGGCGGCGGCGGCGGCGGCGGCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp1 HG02809.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0200 a0001c0001t0001g0201	2	204	0.0098	-27	c.24+ others(40): Show c.24+931_24+957delCGCCGCCGCCGCCGCCGCCGCCGCCGC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	1/14			chr10	TogoVar
CSF2RA_chrX_1263814_1314935	1290102	TTTTTGTT others(20): Show TTTTTGTTTTGTGTTTTGTGTTTTTATG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	159	0.0063	-27	c.474 others(42): Show c.474-219_474-193delTGTGTTTTTATGTTTTGTTTTGTGTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	6/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667011	GAAAGAAA others(20): Show GAAAGAAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03688.hp1 HG00280.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0009 a0002c0004t0013 a0001c0002t0009 a0002c0004t0013	a0001c0002t0009g0003 a0002c0004t0013g0219 a0001c0002t0009g0003 a0002c0004t0013g0219	2	238	0.0084	-27	c.-39 others(48): Show c.-391-65173_-391-65147delTTCCTTCCTTCCTTCCTTCCTTTC TTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667015	GAAAGGAA others(20): Show GAAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01975.hp1 HG02886.hp1 others(3): Show HG01099.hp2 HG01975.hp1 HG02886.hp1 HG03209.hp1 HG03669.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0007 a0001c0002t0012 others(3): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0012 a0001c0002t0041 a0002c0003t0015 a0002c0004t0013	a0001c0001t0001g0040 a0001c0002t0007g0037 a0001c0002t0012g0175 others(3): Show a0001c0001t0001g0040 a0001c0002t0007g0037 a0001c0002t0012g0175 a0001c0002t0041g0031 a0002c0003t0015g0042 a0002c0004t0013g0057	6	238	0.0252	-27	c.-39 others(48): Show c.-391-65177_-391-65151delTTCCTTCCTTCCTTCCTTCCTTCC TTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3011367	CTGTGATA others(20): Show CTGTGATATAAGCATTATCATAATCAGT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20129.hp1 HG02922.hp2 NA20129.hp1	a0014 a0031 a0014 a0031	a0014c0010 a0031c0069 a0014c0010 a0031c0069	a0014c0010t0070 a0031c0069t0043 a0014c0010t0070 a0031c0069t0043	a0014c0010t0070g0084 a0031c0069t0043g0100 a0014c0010t0070g0084 a0031c0069t0043g0100	2	126	0.0159	-27	c.802 others(46): Show c.8029+7083_8029+7109delACTGATTATGATAATGCTTATATCAC A	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	52/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3083628	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp1 HG03130.hp1 others(1): Show HG02886.hp1 HG02965.hp1 HG03130.hp1 NA20129.hp1	a0001 a0014 a0030 a0001 a0014 a0030	a0001c0026 a0001c0039 a0014c0010 others(1): Show a0001c0026 a0001c0039 a0014c0010 a0030c0052	a0001c0026t0006 a0001c0039t0066 a0014c0010t0070 others(1): Show a0001c0026t0006 a0001c0039t0066 a0014c0010t0070 a0030c0052t0049	a0001c0026t0006g0093 a0001c0039t0066g0080 a0014c0010t0070g0084 others(1): Show a0001c0026t0006g0093 a0001c0039t0066g0080 a0014c0010t0070g0084 a0030c0052t0049g0098	4	126	0.0318	-27	c.747 others(46): Show c.7474+3442_7474+3468delAAAAAAATATATATATATATATATAT A	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	49/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3796411	ATATCTAT others(20): Show ATATCTATCATGTATAGATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp2 HG02056.hp1 others(4): Show HG00423.hp1 HG01243.hp2 HG02056.hp1 HG02129.hp2 NA18971.hp2 NA18983.hp1 NA18984.hp2	a0001 a0023 a0025 others(1): Show a0001 a0023 a0025 a0035	a0001c0002 a0001c0003 a0001c0007 others(4): Show a0001c0002 a0001c0003 a0001c0007 a0001c0061 a0023c0095 a0025c0096 a0035c0098	a0001c0002t0002 a0001c0003t0013 a0001c0007t0032 others(4): Show a0001c0002t0002 a0001c0003t0013 a0001c0007t0032 a0001c0061t0001 a0023c0095t0002 a0025c0096t0067 a0035c0098t0025	a0001c0002t0002g0083 a0001c0003t0013g0026 a0001c0007t0032g0033 others(4): Show a0001c0002t0002g0083 a0001c0003t0013g0026 a0001c0007t0032g0033 a0001c0061t0001g0021 a0023c0095t0002g0124 a0025c0096t0067g0116 a0035c0098t0025g0019	7	126	0.0556	-27	c.819 others(46): Show c.819-42396_819-42370delGATATATATATCTATACATGATAGAT A	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3817252	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0036 a0001c0059t0001g0036	1	126	0.0079	-27	c.819 others(46): Show c.819-63237_819-63211delAAAAAAAAAAAAAAAAAAAAAAAAAA A	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4588370	GAGACAGA others(20): Show GAGACAGAGATAAAGAACTATCTCATAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01071.hp1 others(45): Show HG00099.hp2 HG00735.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18979.hp1 NA18982.hp2 NA18984.hp2 NA19030.hp1 NA19074.hp1 NA19090.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0013 a0014 a0020 a0026 a0027 a0030 a0031 a0033 a0036 a0037 a0038	a0001c0001 a0001c0003 a0001c0005 others(41): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0019 a0001c0021 a0001c0039 a0001c0073 a0001c0079 a0001c0102 a0001c0111 a0001c0114 a0001c0115 a0002c0012 a0002c0015 a0002c0022 a0002c0036 a0002c0041 a0002c0053 a0002c0075 a0002c0076 a0002c0091 a0003c0014 a0003c0034 a0003c0057 a0004c0099 a0005c0064 a0005c0065 a0005c0107 a0006c0083 a0006c0116 a0007c0088 a0008c0008 a0013c0027 a0014c0010 a0020c0024 a0026c0082 a0027c0023 a0030c0052 a0031c0069 a0033c0042 a0036c0100 a0037c0101 a0038c0066	a0001c0001t0002 a0001c0001t0039 a0001c0003t0013 others(44): Show a0001c0001t0002 a0001c0001t0039 a0001c0003t0013 a0001c0003t0019 a0001c0005t0002 a0001c0005t0007 a0001c0007t0032 a0001c0019t0078 a0001c0021t0005 a0001c0039t0066 a0001c0073t0007 a0001c0079t0072 a0001c0102t0005 a0001c0111t0045 a0001c0114t0003 a0001c0115t0042 a0002c0012t0017 a0002c0015t0021 a0002c0022t0036 a0002c0036t0029 a0002c0041t0027 a0002c0053t0022 a0002c0075t0026 a0002c0076t0035 a0002c0091t0002 a0003c0014t0055 a0003c0034t0030 a0003c0057t0080 a0004c0099t0014 a0005c0064t0051 a0005c0065t0023 a0005c0107t0068 a0006c0083t0004 a0006c0116t0004 a0007c0088t0076 a0008c0008t0082 a0013c0027t0003 a0014c0010t0070 a0020c0024t0077 a0026c0082t0052 a0027c0023t0001 a0030c0052t0049 a0031c0069t0043 a0033c0042t0004 a0036c0100t0017 a0037c0101t0008 a0038c0066t0010	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(45): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0005t0002g0111 a0001c0005t0007g0070 a0001c0007t0032g0033 a0001c0019t0078g0105 a0001c0021t0005g0012 a0001c0039t0066g0080 a0001c0073t0007g0108 a0001c0079t0072g0113 a0001c0102t0005g0034 a0001c0111t0045g0063 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0036t0029g0009 a0002c0041t0027g0018 a0002c0053t0022g0041 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0091t0002g0114 a0003c0014t0055g0056 a0003c0034t0030g0038 a0003c0057t0080g0075 a0004c0099t0014g0020 a0005c0064t0051g0078 a0005c0065t0023g0050 a0005c0107t0068g0073 a0006c0083t0004g0006 a0006c0116t0004g0039 a0007c0088t0076g0057 a0008c0008t0082g0126 a0013c0027t0003g0099 a0014c0010t0070g0084 a0020c0024t0077g0104 a0026c0082t0052g0097 a0027c0023t0001g0052 a0030c0052t0049g0098 a0031c0069t0043g0100 a0033c0042t0004g0004 a0036c0100t0017g0121 a0037c0101t0008g0023 a0038c0066t0010g0032	48	126	0.3810	-27	c.302 others(46): Show c.302+48945_302+48971delTTATGAGATAGTTCTTTATCTCTGTC T	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4742000	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG06807.hp2 NA19043.hp1 HG03139.hp2 HG06807.hp2 NA19043.hp1	a0001 a0001	a0001c0033 a0001c0068 a0001c0093 a0001c0033 a0001c0068 a0001c0093	a0001c0033t0003 a0001c0068t0015 a0001c0093t0009 a0001c0033t0003 a0001c0068t0015 a0001c0093t0009	a0001c0033t0003g0059 a0001c0068t0015g0049 a0001c0093t0009g0007 a0001c0033t0003g0059 a0001c0068t0015g0049 a0001c0093t0009g0007	3	126	0.0238	-27	c.86- others(46): Show c.86-104469_86-104443delAAAAAAAAAAAAAAAAAAAAAAAAAA A	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4758697	GCAGGTAA others(20): Show GCAGGTAAGATAAAGAGAGTAAAAAGCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0016 a0002c0030t0016	a0002c0030t0016g0122 a0002c0030t0016g0122	1	126	0.0079	-27	c.86- others(46): Show c.86-121166_86-121140delGGCTTTTTACTCTCTTTATCTTACCT G	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD2_chr1_33508998_34170230	33659043	CCATATTT others(20): Show CCATATTTGAAGAAAAGTCAGATATTTG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0028 a0028	a0028c0010 a0028c0010	a0028c0010t0017 a0028c0010t0017	a0028c0010t0017g0064 a0028c0010t0017g0064	1	66	0.0152	-27	c.425 others(44): Show c.4256-933_4256-907delCAAATATCTGACTTTTCTTCAAATATG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	26/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33790676	TATCTATC others(20): Show TATCTATCTATCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0011 a0011	a0011c0039 a0011c0039	a0011c0039t0014 a0011c0039t0014	a0011c0039t0014g0014 a0011c0039t0014g0014	1	66	0.0152	-27	c.155 others(46): Show c.1550+1720_1550+1746delGATAGATAGATAGATAGATAGATAGA T	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	11/70			chr1	TogoVar
CSMD2_chr1_33508998_34170230	33790685	ATCTATCT others(20): Show ATCTATCTATCTATCTATCATCTATCTG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp2 HG02965.hp1 others(2): Show HG01109.hp1 HG02647.hp2 HG02965.hp1 HG03195.hp2 NA20300.hp1	a0002 a0015 a0022 others(2): Show a0002 a0015 a0022 a0026 a0029	a0002c0043 a0015c0053 a0022c0019 others(2): Show a0002c0043 a0015c0053 a0022c0019 a0026c0023 a0029c0009	a0002c0043t0003 a0015c0053t0002 a0022c0019t0011 others(2): Show a0002c0043t0003 a0015c0053t0002 a0022c0019t0011 a0026c0023t0003 a0029c0009t0018	a0002c0043t0003g0061 a0015c0053t0002g0024 a0022c0019t0011g0017 others(2): Show a0002c0043t0003g0061 a0015c0053t0002g0024 a0022c0019t0011g0017 a0026c0023t0003g0039 a0029c0009t0018g0065	5	66	0.0758	-27	c.155 others(46): Show c.1550+1711_1550+1737delCAGATAGATGATAGATAGATAGATAG A	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	11/70			chr1	TogoVar
CSNK1D_chr17_82237667_82278700	82254379	TCAGCTGA others(20): Show TCAGCTGAGCCGCCGGGGCCTCGAGAAG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0202 a0001c0001t0026g0202	1	320	0.0031	-27	c.336 others(44): Show c.336+1023_336+1049delCTTCTCGAGGCCCCGGCGGCTCAGCTG	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	3/8			chr17	TogoVar
CSNK2A1_chr20_467498_548790	485100	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	316	0.0032	-27	c.106 others(46): Show c.1061-1051_1061-1025delATATATATATATATATATTTTTTTTT T	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSRNP3_chr2_165464698_165694407	165520770	TTATATAT others(20): Show TTATATATATATATTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01099.hp2 others(35): Show HG00544.hp2 HG00609.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01978.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02647.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03831.hp2 HG03927.hp2 NA18906.hp1 NA18956.hp1 NA18972.hp2 NA18986.hp2 NA19000.hp2 NA19003.hp1 NA19006.hp2 NA19010.hp2 NA19075.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0034 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0057 a0001c0001t0059 a0001c0001t0064 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0084 a0001c0001t0092 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0014 a0001c0002t0019 a0001c0002t0038 a0001c0002t0043 a0001c0002t0096 a0001c0004t0089 a0002c0003t0010	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 others(35): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0047 a0001c0001t0003g0002 a0001c0001t0003g0012 a0001c0001t0007g0059 a0001c0001t0007g0062 a0001c0001t0011g0064 a0001c0001t0020g0019 a0001c0001t0022g0213 a0001c0001t0024g0034 a0001c0001t0034g0227 a0001c0001t0051g0046 a0001c0001t0052g0010 a0001c0001t0054g0021 a0001c0001t0057g0028 a0001c0001t0059g0031 a0001c0001t0064g0110 a0001c0001t0074g0097 a0001c0001t0075g0156 a0001c0001t0076g0063 a0001c0001t0084g0014 a0001c0001t0092g0066 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0015 a0001c0002t0005g0029 a0001c0002t0005g0030 a0001c0002t0005g0042 a0001c0002t0008g0044 a0001c0002t0014g0095 a0001c0002t0019g0018 a0001c0002t0038g0060 a0001c0002t0043g0033 a0001c0002t0096g0096 a0001c0004t0089g0020 a0002c0003t0010g0094	38	246	0.1545	-27	c.-24 others(44): Show c.-24+2823_-24+2849delTATATATATATATATATATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSTF2T_chr10_51690486_51704595	51697545	CAGAAAGA others(20): Show CAGAAAGAAAGAAAAAGAACAAAAAATA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 HG03579.hp1 HG02965.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0000 a0001c0003t0008g0000	2	428	0.0047	-27	c.12 others(36): Show c.127_*153delTATTTTTTGTTCTTTTTCTTTCTTTCT	CSTF2T	ENSG00000177613.9	transcript	ENST00000331173.6	protein_coding	1/1	127		chr10	TogoVar
CSTF3_chr11_33079584_33166480	33163899	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03490.hp1 NA18906.hp2 HG02615.hp1 HG03490.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0002g0018 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0002g0018	3	360	0.0083	-27	c.-26 others(38): Show c.-2601_-2575delATATATATATATATATATATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2420		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163901	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG03139.hp1 HG00642.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0223 a0001c0001t0001g0228	2	360	0.0056	-27	c.-26 others(38): Show c.-2603_-2577delAAATATATATATATATATATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2422		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163903	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG02572.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0222 a0001c0001t0001g0227	2	360	0.0056	-27	c.-26 others(38): Show c.-2605_-2579delAAAAATATATATATATATATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2424		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163905	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02258.hp2 HG02300.hp2 HG00280.hp1 HG02258.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214	3	360	0.0083	-27	c.-26 others(38): Show c.-2607_-2581delAAAAAAATATATATATATATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2426		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163907	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	360	0.0028	-27	c.-26 others(38): Show c.-2609_-2583delAAAAAAAAATATATATATATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2428		chr11	TogoVar
CTDNEP1_chr17_7238591_7256734	7243271	AGGTTTCT others(20): Show AGGTTTCTCCTTTCGTGCTTCCATAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02976.hp1 others(4): Show HG02257.hp1 HG02630.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp1 HG04199.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0011 a0002c0003t0001g0007 a0001c0001t0001g0011 a0002c0003t0001g0007	7	398	0.0176	-27	c.88 others(36): Show c.887_*913delGGCTATGGAAGCACGAAAGGAGAAACC	CTDNEP1	ENSG00000175826.12	transcript	ENST00000574322.6	protein_coding		319		chr17	TogoVar
CTDP1_chr18_79674803_79759503	79687811	GAGGTTCT others(20): Show GAGGTTCTGAGGCAAGGACTTTCCTTGC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0015 a0001c0013t0015	a0001c0013t0015g0197 a0001c0013t0015g0197	1	378	0.0027	-27	c.315 others(44): Show c.315-7409_315-7383delTCTGAGGCAAGGACTTTCCTTGCAGGT	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSPL_chr3_37856880_37989469	37861599	CCCCCGAG others(20): Show CCCCCGAGCCCCTCTGCCGTCCGCTACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02698.hp1 HG02895.hp1 others(8): Show HG02630.hp1 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG03239.hp2 HG03516.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0017 a0001c0001t0030	a0001c0001t0001g0151 a0001c0001t0003g0001 a0001c0001t0004g0055 others(7): Show a0001c0001t0001g0151 a0001c0001t0003g0001 a0001c0001t0004g0055 a0001c0001t0005g0052 a0001c0001t0005g0058 a0001c0001t0015g0056 a0001c0001t0015g0057 a0001c0001t0017g0054 a0001c0001t0017g0059 a0001c0001t0030g0053	11	166	0.0663	-27	c.-60 others(36): Show c.-600_-574delCCCCGAGCCCCTCTGCCGTCCGCTACA	CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding		280		chr3	TogoVar
CTNNA2_chr2_79508051_80653780	80262901	CAACAACA others(20): Show CAACAACAATATTGACAAAAATAATAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp1 HG02148.hp1 others(8): Show HG00673.hp2 HG01106.hp1 HG02148.hp1 HG02258.hp1 HG02572.hp1 HG02886.hp1 HG02886.hp2 HG03209.hp2 HG03688.hp1 HG03927.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0009t0001 a0002c0006t0001	a0001c0001t0001g0010 a0001c0001t0002g0057 a0001c0003t0001g0005 others(8): Show a0001c0001t0001g0010 a0001c0001t0002g0057 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0018 a0001c0003t0001g0026 a0001c0003t0002g0008 a0001c0004t0001g0032 a0001c0005t0002g0009 a0001c0009t0001g0003 a0002c0006t0001g0040	11	68	0.1618	-27	c.105 others(50): Show c.1057-130272_1057-130246delTTGACAAAAATAATAAAAACAA CAATA	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80596279	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	68	0.0147	-27	c.218 others(46): Show c.2189+6816_2189+6842delTTTTTTTTTTTTTTTTTTTTTTTTTT T	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	66367868	AATAATAA others(20): Show AATAATAATAATAATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	46	0.0217	-27	c.173 others(48): Show c.1732+11257_1732+11283delAATAATAATAATAATTATTATTAT TAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66367871	AATAATAA others(20): Show AATAATAATAATTATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02922.hp1 HG02965.hp2 others(1): Show HG01070.hp2 HG02922.hp1 HG02965.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0004t0001 a0002c0002t0004	a0001c0001t0001g0015 a0001c0001t0012g0038 a0001c0004t0001g0018 others(1): Show a0001c0001t0001g0015 a0001c0001t0012g0038 a0001c0004t0001g0018 a0002c0002t0004g0028	4	46	0.0870	-27	c.173 others(48): Show c.1732+11254_1732+11280delAATAATAATAATAATAATTATTAT TAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66367874	AATAATAA others(20): Show AATAATAATTATTATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	46	0.0217	-27	c.173 others(48): Show c.1732+11251_1732+11277delAATAATAATAATAATAATAATTAT TAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTPS2_chrX_16582999_16717669	16704852	AAGAGAGA others(20): Show AAGAGAGAATCGCTTGAACCTGGGAGGC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02723.hp1 others(2): Show HG02055.hp1 HG02572.hp1 HG02723.hp1 HG03041.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 others(2): Show a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0015g0226	5	226	0.0221	-27	c.-39 others(44): Show c.-39-1938_-39-1912delGCCTCCCAGGTTCAAGCGATTCTCTCT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	1/18			chrX	TogoVar
CTSD_chr11_1747755_1768927	1754358	GGAGGGAT others(20): Show GGAGGGATGGAGGGGATGGAGGGGCATA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	386	0.0026	-27	c.828 others(42): Show c.828-247_828-221delTATGCCCCTCCATCCCCTCCATCCCTC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSZ_chr20_58990185_59012254	59006759	GAGGTGGG others(20): Show GAGGTGGGGCTGGCCTGGCTTTCTGGCC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0182 a0001c0002t0005g0182	1	436	0.0023	-27	c.143 others(42): Show c.143+200_143+226delGGCCAGAAAGCCAGGCCAGCCCCACCT	CTSZ	ENSG00000101160.15	transcript	ENST00000217131.6	protein_coding	1/5			chr20	TogoVar
CTU2_chr16_88701503_88720396	88714229	TGTGGGTG others(20): Show TGTGGGTGTGTGTGGGTGTGTGCGGGGG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02258.hp1 HG03453.hp1 others(1): Show HG01891.hp2 HG02258.hp1 HG03453.hp1 HG03453.hp2	a0005 a0011 a0005 a0011	a0005c0006 a0011c0014 a0005c0006 a0011c0014	a0005c0006t0001 a0011c0014t0001 a0005c0006t0001 a0011c0014t0001	a0005c0006t0001g0020 a0005c0006t0001g0165 a0011c0014t0001g0020 a0005c0006t0001g0020 a0005c0006t0001g0165 a0011c0014t0001g0020	4	418	0.0096	-27	c.109 others(41): Show c.1097+6_1097+32delGGTGTGTGTGGGTGTGTGCGGGGGGTG	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL2_chr10_35003551_35095341	35035351	TAATATAT others(20): Show TAATATATGGATCCAAGTGCAGGAGTAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0215 a0001c0001t0019g0215	1	300	0.0033	-27	c.878 others(40): Show c.878-82_878-56delGTACTCCTGCACTTGGATCCATATATT	CUL2	ENSG00000108094.17	transcript	ENST00000374749.8	protein_coding	9/20			chr10	TogoVar
CWC27_chr5_64763930_65023750	64840377	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 HG02723.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0095 a0001c0001t0002g0097	2	260	0.0077	-27	c.938 others(46): Show c.938+35993_938+36019delAAAAAAAAAAAAAAAAATATATATAT A	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CWC27_chr5_64763930_65023750	64840387	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0241 a0002c0004t0001g0241	1	260	0.0039	-27	c.938 others(46): Show c.938+36003_938+36029delAAAAAAATATATATATATATATATAT A	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CWC27_chr5_64763930_65023750	64840389	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0056 a0002c0004t0003g0056	1	260	0.0039	-27	c.938 others(46): Show c.938+36005_938+36031delAAAAATATATATATATATATATATAT A	CWC27	ENSG00000153015.17	transcript	ENST00000381070.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
CYB5D1_chr17_7853003_7867282	7854843	GCTGCAAG others(20): Show GCTGCAAGACCGTGATTGATGGGGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0001	1	440	0.0023	-27	c.-32 others(38): Show c.-3291_-3265delCTGCAAGACCGTGATTGATGGGGAGGA	CYB5D1	ENSG00000182224.12	transcript	ENST00000332439.5	protein_coding		3159		chr17	TogoVar
CYB5D2_chr17_4138197_4162697	4160168	TCAGCTCC others(20): Show TCAGCTCCGTACCCCTATATCCACGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	370	0.0027	-27	c.30 others(38): Show c.3087_*3113delCAGCTCCGTACCCCTATATCCACGACC	CYB5D2	ENSG00000167740.10	transcript	ENST00000301391.8	protein_coding		2472		chr17	TogoVar
CYC1_chr8_144090076_144102525	144096762	TGGCAGTG others(20): Show TGGCAGTGGGCATGTGGAATACTTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(305): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.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 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0004 a0003c0005 others(3): Show a0001c0001 a0001c0004 a0003c0005 a0004c0006 a0005c0008 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0003c0005t0001 a0004c0006t0001 a0005c0008t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0002g0001 a0001c0004t0001g0001 a0003c0005t0001g0001 a0004c0006t0001g0001 a0005c0008t0001g0001 a0006c0007t0001g0001	308	352	0.8750	-27	c.772 others(40): Show c.772+19_772+45delGGCAGTGGGCATGTGGAATACTTCTCC	CYC1	ENSG00000179091.5	transcript	ENST00000318911.5	protein_coding	5/6			chr8	TogoVar
CYP24A1_chr20_54148446_54178986	54154939	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp1 HG03579.hp1 HG02258.hp1 HG02970.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0027 a0001c0003t0001 a0001c0003t0006 a0001c0003t0027	a0001c0003t0001g0075 a0001c0003t0006g0046 a0001c0003t0027g0385 a0001c0003t0001g0075 a0001c0003t0006g0046 a0001c0003t0027g0385	3	456	0.0066	-27	c.11 others(42): Show c.11-205_*11-179delTTTTTTTTTTTTTTTTTTTTTTTTTTT	CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding	11/11			chr20	TogoVar
CYP27A1_chr2_218777147_218820293	218778348	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02293.hp1 HG02970.hp1 others(2): Show HG02055.hp2 HG02293.hp1 HG02970.hp1 HG03688.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0002t0001g0026	5	298	0.0168	-27	c.-38 others(38): Show c.-3834_-3808delTTTTTTTTTTTTTTTTTTTTTTTTTTT	CYP27A1	ENSG00000135929.9	transcript	ENST00000258415.9	protein_coding		3798		chr2	TogoVar
CYP4F3_chr19_15635897_15667825	15656497	CTATCTAT others(20): Show CTATCTATCTATCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp1 HG03225.hp2 HG02572.hp1 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0045 a0001c0002t0023 a0001c0002t0045	a0001c0002t0023g0355 a0001c0002t0023g0376 a0001c0002t0045g0377 a0001c0002t0023g0355 a0001c0002t0023g0376 a0001c0002t0045g0377	3	424	0.0071	-27	c.111 others(46): Show c.1116-1765_1116-1739delATCTATCTATCTATCTATCTATCTAT T	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAAM2_chr6_39787376_39909869	39909258	GGGGGAGG others(20): Show GGGGGAGGGGGAGAGGGAGAGGAAAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0091 a0001c0004t0004g0091	1	300	0.0033	-27	c.72 others(38): Show c.7222_*7248delGGGGAGGGGGAGAGGGAGAGGAAAGCA	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding		4390		chr6	TogoVar
DAAM2_chr6_39787376_39909869	39909297	GGGGGAGA others(20): Show GGGGGAGAGGGAGAGGAAAGCAGGGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03516.hp2 NA18944.hp2 others(7): Show HG02451.hp1 HG03516.hp2 NA18944.hp2 NA18945.hp1 NA18956.hp1 NA18966.hp2 NA18981.hp1 NA19060.hp2 NA19074.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0039 a0001c0004 a0001c0007 a0001c0039	a0001c0004t0021 a0001c0004t0031 a0001c0007t0013 others(2): Show a0001c0004t0021 a0001c0004t0031 a0001c0007t0013 a0001c0007t0015 a0001c0039t0015	a0001c0004t0021g0060 a0001c0004t0021g0100 a0001c0004t0031g0294 others(7): Show a0001c0004t0021g0060 a0001c0004t0021g0100 a0001c0004t0031g0294 a0001c0007t0013g0064 a0001c0007t0013g0082 a0001c0007t0013g0207 a0001c0007t0013g0246 a0001c0007t0015g0057 a0001c0007t0015g0245 a0001c0039t0015g0228	10	300	0.0333	-27	c.72 others(38): Show c.7261_*7287delGGGGAGAGGGAGAGGAAAGCAGGGGAA	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding		4429		chr6	TogoVar

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