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
CSE1L_chr20_49041312_49101949	49068771	GTTTTCTT others(19): Show GTTTTCTTCCCTGATCCTGATCTCAAA	G G	frameshift_variant frameshift_variant	HIGH	NA18956.hp1 NA18956.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0046 a0006c0004t0002g0046	1	386	0.0026	-26	c.625 others(33): Show c.625_650delTTTTCTTCCCTGATCCTGATCTCAAA	p.Phe others(5): Show p.Phe209fs	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	7/25	748/3550	625/2916	209/971			chr20	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666789	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0072 a0002c0003t0009g0072	1	238	0.0042	-26	c.-39 others(47): Show c.-391-64950_-391-64925delCTCTCTTTCTTTCTTTCTTTCTTT CT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666793	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01261.hp1 HG01515.hp2 others(8): Show HG00738.hp2 HG01261.hp1 HG01515.hp2 HG02280.hp1 HG02965.hp1 HG03492.hp2 HG03669.hp1 HG04228.hp1 NA18971.hp2 NA19057.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002 a0001c0002t0006 a0001c0002t0022 a0002c0003t0004 a0002c0003t0005	a0001c0001t0001g0134 a0001c0001t0001g0211 a0001c0001t0002g0059 others(8): Show a0001c0001t0001g0134 a0001c0001t0001g0211 a0001c0001t0002g0059 a0001c0001t0002g0204 a0001c0001t0006g0152 a0001c0002t0002g0067 a0001c0002t0006g0017 a0001c0002t0022g0079 a0001c0002t0022g0169 a0002c0003t0004g0235 a0002c0003t0005g0018	11	238	0.0462	-26	c.-39 others(47): Show c.-391-64954_-391-64929delCTCTCTCTCTTTCTTTCTTTCTTT CT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSH2_chr17_63867016_63878677	63877165	CCATGTCT others(19): Show CCATGTCTATCATTCATTGCTAGTAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-26	c.-35 others(37): Show c.-3577_-3552delTTTACTAGCAATGAATGATAGACATG		CSH2	ENSG00000213218.11	transcript	ENST00000392886.7	protein_coding					3489		chr17	TogoVar
CSHL1_chr17_63904608_63916258	63912803	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0007 a0002c0002t0003g0007	1	438	0.0023	-26	c.-16 others(37): Show c.-1633_-1608delGAAAGAAAGAAAGAAAGAAAGAAAGA		CSHL1	ENSG00000204414.14	transcript	ENST00000309894.6	protein_coding					1546		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3182578	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(9): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG01243.hp2 HG01261.hp1 HG01934.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp2 HG02486.hp1 HG03834.hp1 NA18982.hp1	a0001 a0004 a0025 others(3): Show a0001 a0004 a0025 a0028 a0035 a0037	a0001c0002 a0001c0007 a0001c0071 others(9): Show a0001c0002 a0001c0007 a0001c0071 a0001c0094 a0001c0108 a0004c0086 a0004c0087 a0004c0099 a0025c0096 a0028c0097 a0035c0098 a0037c0101	a0001c0002t0002 a0001c0007t0032 a0001c0071t0069 others(9): Show a0001c0002t0002 a0001c0007t0032 a0001c0071t0069 a0001c0094t0002 a0001c0108t0054 a0004c0086t0002 a0004c0087t0001 a0004c0099t0014 a0025c0096t0067 a0028c0097t0018 a0035c0098t0025 a0037c0101t0008	a0001c0002t0002g0083 a0001c0007t0032g0033 a0001c0071t0069g0115 others(9): Show a0001c0002t0002g0083 a0001c0007t0032g0033 a0001c0071t0069g0115 a0001c0094t0002g0110 a0001c0108t0054g0074 a0004c0086t0002g0118 a0004c0087t0001g0022 a0004c0099t0014g0020 a0025c0096t0067g0116 a0028c0097t0018g0089 a0035c0098t0025g0019 a0037c0101t0008g0023	12	126	0.0952	-26	c.562 others(45): Show c.5621-1390_5621-1365delCACACACACACACACACACACACACA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3237846	CTTATACT others(19): Show CTTATACTATAAATATAATTTTTATAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01884.hp2 others(27): Show HG00438.hp2 HG01255.hp1 HG01884.hp2 HG02055.hp1 HG02056.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG04228.hp1 NA18522.hp1 NA18979.hp1 NA18982.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0012 a0013 a0018 a0020 a0027 a0029 a0036 a0038	a0001c0001 a0001c0002 a0001c0005 others(27): Show a0001c0001 a0001c0002 a0001c0005 a0001c0025 a0001c0033 a0001c0039 a0001c0050 a0001c0071 a0001c0081 a0001c0085 a0001c0114 a0002c0022 a0002c0031 a0002c0036 a0002c0053 a0002c0078 a0003c0034 a0005c0065 a0006c0083 a0006c0116 a0009c0113 a0011c0110 a0012c0104 a0013c0027 a0018c0044 a0020c0024 a0027c0023 a0029c0028 a0036c0100 a0038c0066	a0001c0001t0002 a0001c0002t0028 a0001c0005t0002 others(27): Show a0001c0001t0002 a0001c0002t0028 a0001c0005t0002 a0001c0025t0003 a0001c0033t0003 a0001c0039t0066 a0001c0050t0053 a0001c0071t0069 a0001c0081t0037 a0001c0085t0020 a0001c0114t0003 a0002c0022t0036 a0002c0031t0015 a0002c0036t0029 a0002c0053t0022 a0002c0078t0044 a0003c0034t0030 a0005c0065t0023 a0006c0083t0004 a0006c0116t0004 a0009c0113t0011 a0011c0110t0074 a0012c0104t0071 a0013c0027t0003 a0018c0044t0064 a0020c0024t0077 a0027c0023t0001 a0029c0028t0024 a0036c0100t0017 a0038c0066t0010	a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0005t0002g0111 others(27): Show a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0005t0002g0111 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0050t0053g0120 a0001c0071t0069g0115 a0001c0081t0037g0030 a0001c0085t0020g0060 a0001c0114t0003g0119 a0002c0022t0036g0048 a0002c0031t0015g0001 a0002c0036t0029g0009 a0002c0053t0022g0041 a0002c0078t0044g0064 a0003c0034t0030g0038 a0005c0065t0023g0050 a0006c0083t0004g0006 a0006c0116t0004g0039 a0009c0113t0011g0043 a0011c0110t0074g0082 a0012c0104t0071g0058 a0013c0027t0003g0099 a0018c0044t0064g0085 a0020c0024t0077g0104 a0027c0023t0001g0052 a0029c0028t0024g0040 a0036c0100t0017g0121 a0038c0066t0010g0032	30	126	0.2381	-26	c.415 others(45): Show c.4154-7641_4154-7616delTTATAAAAATTATATTTATAGTATAA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3262184	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02257.hp2 HG02723.hp1 others(1): Show HG01934.hp1 HG02257.hp2 HG02723.hp1 NA19060.hp1	a0001 a0002 a0024 a0001 a0002 a0024	a0001c0003 a0001c0007 a0002c0075 others(1): Show a0001c0003 a0001c0007 a0002c0075 a0024c0038	a0001c0003t0019 a0001c0007t0001 a0002c0075t0026 others(1): Show a0001c0003t0019 a0001c0007t0001 a0002c0075t0026 a0024c0038t0075	a0001c0003t0019g0107 a0001c0007t0001g0035 a0002c0075t0026g0051 others(1): Show a0001c0003t0019g0107 a0001c0007t0001g0035 a0002c0075t0026g0051 a0024c0038t0075g0067	4	126	0.0318	-26	c.415 others(47): Show c.4153+21934_4153+21959delATATATATATATATATATATATAT AT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3306785	CTATGGTT others(19): Show CTATGGTTTTGGAGACAGATTTCTGAG	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0102 a0001c0102	a0001c0102t0005 a0001c0102t0005	a0001c0102t0005g0034 a0001c0102t0005g0034	1	126	0.0079	-26	c.395 others(43): Show c.3950+884_3950+909delCTCAGAAATCTGTCTCCAAAACCATA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	25/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3388896	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01081.hp1 others(34): Show HG00735.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02723.hp2 HG02922.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18983.hp1 NA18984.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0009 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0027 a0032	a0001c0001 a0001c0004 a0001c0017 others(31): Show a0001c0001 a0001c0004 a0001c0017 a0001c0019 a0001c0020 a0001c0021 a0001c0026 a0001c0059 a0001c0061 a0001c0068 a0001c0111 a0001c0114 a0002c0012 a0002c0015 a0002c0022 a0002c0032 a0002c0060 a0003c0014 a0005c0064 a0005c0065 a0005c0107 a0009c0113 a0012c0104 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0019c0018 a0020c0024 a0021c0016 a0022c0013 a0027c0023 a0032c0011	a0001c0001t0002 a0001c0001t0039 a0001c0004t0020 others(33): Show a0001c0001t0002 a0001c0001t0039 a0001c0004t0020 a0001c0004t0063 a0001c0017t0005 a0001c0019t0078 a0001c0020t0016 a0001c0021t0005 a0001c0026t0006 a0001c0059t0001 a0001c0061t0001 a0001c0068t0015 a0001c0111t0045 a0001c0114t0003 a0002c0012t0017 a0002c0015t0021 a0002c0022t0036 a0002c0032t0050 a0002c0060t0006 a0003c0014t0055 a0005c0064t0051 a0005c0065t0023 a0005c0107t0068 a0009c0113t0011 a0012c0104t0071 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0019c0018t0058 a0020c0024t0077 a0021c0016t0048 a0022c0013t0007 a0027c0023t0001 a0032c0011t0065	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(34): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0111t0045g0063 a0001c0114t0003g0119 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0032t0050g0061 a0002c0060t0006g0094 a0003c0014t0055g0056 a0005c0064t0051g0078 a0005c0065t0023g0050 a0005c0107t0068g0073 a0009c0113t0011g0043 a0012c0104t0071g0058 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0019c0018t0058g0068 a0020c0024t0077g0104 a0021c0016t0048g0106 a0022c0013t0007g0112 a0027c0023t0001g0052 a0032c0011t0065g0101	37	126	0.2937	-26	c.259 others(45): Show c.2594-1240_2594-1215delGTGTGTGTGTGTGTGTGTGTGTGTGT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	17/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3699882	GCTACATC others(19): Show GCTACATCCCTGGGTTATATCCCATAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG01255.hp2 others(9): Show HG00438.hp1 HG01255.hp1 HG01255.hp2 HG02615.hp2 HG02622.hp1 HG02886.hp1 HG03098.hp2 HG03209.hp2 HG03710.hp1 NA18983.hp1 NA19060.hp1 NA19090.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0004 a0001c0006 a0001c0007 others(9): Show a0001c0004 a0001c0006 a0001c0007 a0001c0039 a0001c0049 a0001c0061 a0001c0094 a0002c0030 a0002c0031 a0002c0060 a0002c0092 a0011c0110	a0001c0004t0063 a0001c0006t0060 a0001c0007t0001 others(9): Show a0001c0004t0063 a0001c0006t0060 a0001c0007t0001 a0001c0039t0066 a0001c0049t0002 a0001c0061t0001 a0001c0094t0002 a0002c0030t0016 a0002c0031t0015 a0002c0060t0006 a0002c0092t0001 a0011c0110t0074	a0001c0004t0063g0095 a0001c0006t0060g0103 a0001c0007t0001g0035 others(9): Show a0001c0004t0063g0095 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0039t0066g0080 a0001c0049t0002g0071 a0001c0061t0001g0021 a0001c0094t0002g0110 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0060t0006g0094 a0002c0092t0001g0011 a0011c0110t0074g0082	12	126	0.0952	-26	c.100 others(45): Show c.1009+8506_1009+8531delTTATGGGATATAACCCAGGGATGTAG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3729936	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01071.hp1 others(5): Show HG00438.hp1 HG00438.hp2 HG01071.hp1 HG03017.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA19090.hp2	a0001 a0002 a0036 a0001 a0002 a0036	a0001c0061 a0001c0080 a0001c0081 others(5): Show a0001c0061 a0001c0080 a0001c0081 a0001c0094 a0002c0036 a0002c0041 a0002c0092 a0036c0100	a0001c0061t0001 a0001c0080t0040 a0001c0081t0037 others(5): Show a0001c0061t0001 a0001c0080t0040 a0001c0081t0037 a0001c0094t0002 a0002c0036t0029 a0002c0041t0027 a0002c0092t0001 a0036c0100t0017	a0001c0061t0001g0021 a0001c0080t0040g0025 a0001c0081t0037g0030 others(5): Show a0001c0061t0001g0021 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0094t0002g0110 a0002c0036t0029g0009 a0002c0041t0027g0018 a0002c0092t0001g0011 a0036c0100t0017g0121	8	126	0.0635	-26	c.932 others(45): Show c.932-21471_932-21446delGTTTTTTTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	6/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3838670	TAATATTA others(19): Show TAATATTATATAGTATAATATATAATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03139.hp1 others(7): Show HG02615.hp2 HG02622.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03540.hp2 NA18906.hp1 NA18984.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0010 a0012 a0013	a0001c0004 a0001c0045 a0001c0059 others(7): Show a0001c0004 a0001c0045 a0001c0059 a0002c0032 a0002c0060 a0002c0074 a0009c0113 a0010c0112 a0012c0104 a0013c0027	a0001c0004t0063 a0001c0045t0012 a0001c0059t0001 others(7): Show a0001c0004t0063 a0001c0045t0012 a0001c0059t0001 a0002c0032t0050 a0002c0060t0006 a0002c0074t0041 a0009c0113t0011 a0010c0112t0081 a0012c0104t0071 a0013c0027t0003	a0001c0004t0063g0095 a0001c0045t0012g0010 a0001c0059t0001g0036 others(7): Show a0001c0004t0063g0095 a0001c0045t0012g0010 a0001c0059t0001g0036 a0002c0032t0050g0061 a0002c0060t0006g0094 a0002c0074t0041g0031 a0009c0113t0011g0043 a0010c0112t0081g0090 a0012c0104t0071g0058 a0013c0027t0003g0099	10	126	0.0794	-26	c.819 others(45): Show c.819-84654_819-84629delTATTATATATTATACTATATAATATT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926082	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19043.hp1 HG02486.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0093 a0002c0070 a0001c0093 a0002c0070	a0001c0093t0009 a0002c0070t0046 a0001c0093t0009 a0002c0070t0046	a0001c0093t0009g0007 a0002c0070t0046g0092 a0001c0093t0009g0007 a0002c0070t0046g0092	2	126	0.0159	-26	c.818 others(45): Show c.818+71795_818+71820delGTGTGTGTGTGTGTGTGTGTGTGTGT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4078917	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(48): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01934.hp1 HG01934.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp2 NA19060.hp1 NA19074.hp1 NA19074.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0010 a0013 a0014 a0016 a0022 a0023 a0025 a0031 a0034 a0035 a0038 a0039	a0001c0001 a0001c0002 a0001c0003 others(45): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0021 a0001c0025 a0001c0026 a0001c0039 a0001c0043 a0001c0047 a0001c0049 a0001c0059 a0001c0061 a0001c0071 a0001c0073 a0001c0079 a0001c0080 a0001c0090 a0001c0103 a0001c0108 a0001c0111 a0002c0012 a0002c0037 a0002c0053 a0002c0074 a0002c0075 a0002c0076 a0002c0077 a0002c0078 a0002c0089 a0002c0092 a0004c0056 a0004c0086 a0004c0099 a0010c0112 a0013c0027 a0014c0010 a0016c0063 a0022c0013 a0023c0095 a0025c0096 a0031c0069 a0034c0055 a0035c0098 a0038c0066 a0039c0009	a0001c0001t0002 a0001c0002t0028 a0001c0002t0061 others(48): Show a0001c0001t0002 a0001c0002t0028 a0001c0002t0061 a0001c0003t0013 a0001c0003t0019 a0001c0005t0007 a0001c0006t0060 a0001c0007t0001 a0001c0007t0032 a0001c0021t0005 a0001c0025t0003 a0001c0026t0006 a0001c0039t0066 a0001c0043t0031 a0001c0047t0014 a0001c0049t0002 a0001c0059t0001 a0001c0061t0001 a0001c0071t0069 a0001c0073t0007 a0001c0079t0072 a0001c0080t0040 a0001c0090t0001 a0001c0103t0033 a0001c0108t0054 a0001c0111t0045 a0002c0012t0017 a0002c0037t0009 a0002c0053t0022 a0002c0074t0041 a0002c0075t0026 a0002c0076t0035 a0002c0077t0001 a0002c0078t0044 a0002c0089t0001 a0002c0092t0001 a0004c0056t0062 a0004c0086t0002 a0004c0099t0014 a0010c0112t0081 a0013c0027t0003 a0014c0010t0070 a0016c0063t0010 a0022c0013t0007 a0023c0095t0002 a0025c0096t0067 a0031c0069t0043 a0034c0055t0034 a0035c0098t0025 a0038c0066t0010 a0039c0009t0001	a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0002t0061g0069 others(48): Show a0001c0001t0002g0125 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0005t0007g0070 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0021t0005g0012 a0001c0025t0003g0077 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0043t0031g0044 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0061t0001g0021 a0001c0071t0069g0115 a0001c0073t0007g0108 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0090t0001g0027 a0001c0103t0033g0028 a0001c0108t0054g0074 a0001c0111t0045g0063 a0002c0012t0017g0088 a0002c0037t0009g0046 a0002c0053t0022g0041 a0002c0074t0041g0031 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0077t0001g0016 a0002c0078t0044g0064 a0002c0089t0001g0037 a0002c0092t0001g0011 a0004c0056t0062g0072 a0004c0086t0002g0118 a0004c0099t0014g0020 a0010c0112t0081g0090 a0013c0027t0003g0099 a0014c0010t0070g0084 a0016c0063t0010g0045 a0022c0013t0007g0112 a0023c0095t0002g0124 a0025c0096t0067g0116 a0031c0069t0043g0100 a0034c0055t0034g0047 a0035c0098t0025g0019 a0038c0066t0010g0032 a0039c0009t0001g0002	51	126	0.4048	-26	c.416 others(45): Show c.416-46844_416-46819delCATATATATATATATATATATATATA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4295188	TTATGCAC others(19): Show TTATGCACATATAATCTTAAGATTTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02056.hp1 HG02074.hp1 others(2): Show HG00423.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0079 a0001c0103 others(2): Show a0001c0002 a0001c0079 a0001c0103 a0001c0105 a0002c0089	a0001c0002t0002 a0001c0079t0072 a0001c0103t0033 others(2): Show a0001c0002t0002 a0001c0079t0072 a0001c0103t0033 a0001c0105t0001 a0002c0089t0001	a0001c0002t0002g0083 a0001c0079t0072g0113 a0001c0103t0033g0028 others(2): Show a0001c0002t0002g0083 a0001c0079t0072g0113 a0001c0103t0033g0028 a0001c0105t0001g0029 a0002c0089t0001g0037	5	126	0.0397	-26	c.415 others(47): Show c.415+124739_415+124764delGAAAATCTTAAGATTATATGTGCA TA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4342207	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01243.hp1 HG01884.hp2 others(12): Show HG01123.hp1 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG03139.hp2 HG03516.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0008 a0027 a0029	a0001c0019 a0001c0033 a0001c0043 others(12): Show a0001c0019 a0001c0033 a0001c0043 a0001c0085 a0001c0111 a0001c0114 a0002c0022 a0002c0053 a0003c0014 a0005c0064 a0006c0083 a0006c0116 a0008c0008 a0027c0023 a0029c0028	a0001c0019t0078 a0001c0033t0003 a0001c0043t0031 others(12): Show a0001c0019t0078 a0001c0033t0003 a0001c0043t0031 a0001c0085t0020 a0001c0111t0045 a0001c0114t0003 a0002c0022t0036 a0002c0053t0022 a0003c0014t0055 a0005c0064t0051 a0006c0083t0004 a0006c0116t0004 a0008c0008t0082 a0027c0023t0001 a0029c0028t0024	a0001c0019t0078g0105 a0001c0033t0003g0059 a0001c0043t0031g0044 others(12): Show a0001c0019t0078g0105 a0001c0033t0003g0059 a0001c0043t0031g0044 a0001c0085t0020g0060 a0001c0111t0045g0063 a0001c0114t0003g0119 a0002c0022t0036g0048 a0002c0053t0022g0041 a0003c0014t0055g0056 a0005c0064t0051g0078 a0006c0083t0004g0006 a0006c0116t0004g0039 a0008c0008t0082g0126 a0027c0023t0001g0052 a0029c0028t0024g0040	15	126	0.1191	-26	c.415 others(45): Show c.415+77720_415+77745delGACACACACACACACACACACACACA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446733	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG03579.hp2 HG02965.hp2 HG03130.hp1 HG03579.hp2	a0001 a0020 a0038 a0001 a0020 a0038	a0001c0026 a0020c0024 a0038c0066 a0001c0026 a0020c0024 a0038c0066	a0001c0026t0006 a0020c0024t0077 a0038c0066t0010 a0001c0026t0006 a0020c0024t0077 a0038c0066t0010	a0001c0026t0006g0093 a0020c0024t0077g0104 a0038c0066t0010g0032 a0001c0026t0006g0093 a0020c0024t0077g0104 a0038c0066t0010g0032	3	126	0.0238	-26	c.303 others(45): Show c.303-26694_303-26669delCACAGACACACACACACACACACACA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4484980	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0016 a0001c0020t0016	a0001c0020t0016g0065 a0001c0020t0016g0065	1	126	0.0079	-26	c.303 others(45): Show c.303-64941_303-64916delTTTTTTTTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486162	CATATATA others(19): Show CATATATATATATACATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0015 a0015	a0015c0062 a0015c0062	a0015c0062t0056 a0015c0062t0056	a0015c0062t0056g0062 a0015c0062t0056g0062	1	126	0.0079	-26	c.303 others(45): Show c.303-66123_303-66098delATATATATGTATGTATATATATATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486174	TACATACA others(19): Show TACATACATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0028 a0028	a0028c0097 a0028c0097	a0028c0097t0018 a0028c0097t0018	a0028c0097t0018g0089 a0028c0097t0018g0089	1	126	0.0079	-26	c.303 others(45): Show c.303-66135_303-66110delGTATATATATATATATATATGTATGT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486180	CATATATA others(19): Show CATATATATATATATATATACATACAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0025 a0001c0114 a0001c0025 a0001c0114	a0001c0025t0003 a0001c0114t0003 a0001c0025t0003 a0001c0114t0003	a0001c0025t0003g0077 a0001c0114t0003g0119 a0001c0025t0003g0077 a0001c0114t0003g0119	2	126	0.0159	-26	c.303 others(45): Show c.303-66141_303-66116delATGTATGTATATATATATATATATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4565749	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03130.hp1 HG06807.hp2 HG01123.hp1 HG03130.hp1 HG06807.hp2	a0001 a0008 a0001 a0008	a0001c0026 a0001c0068 a0008c0008 a0001c0026 a0001c0068 a0008c0008	a0001c0026t0006 a0001c0068t0015 a0008c0008t0082 a0001c0026t0006 a0001c0068t0015 a0008c0008t0082	a0001c0026t0006g0093 a0001c0068t0015g0049 a0008c0008t0082g0126 a0001c0026t0006g0093 a0001c0068t0015g0049 a0008c0008t0082g0126	3	126	0.0238	-26	c.302 others(45): Show c.302+71567_302+71592delATATATATATATATATATATATATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4707886	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18522.hp2 HG03540.hp2 NA18522.hp2	a0002 a0009 a0002 a0009	a0002c0072 a0009c0113 a0002c0072 a0009c0113	a0002c0072t0003 a0009c0113t0011 a0002c0072t0003 a0009c0113t0011	a0002c0072t0003g0066 a0009c0113t0011g0043 a0002c0072t0003g0066 a0009c0113t0011g0043	2	126	0.0159	-26	c.86- others(43): Show c.86-70354_86-70329delTTTTTTTTTTTTTTTTTTTTTTTTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD2_chr1_33508998_34170230	33707693	GCGCACAC others(19): Show GCGCACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG02717.hp1 HG03195.hp1	a0004 a0007 a0004 a0007	a0004c0051 a0007c0025 a0004c0051 a0007c0025	a0004c0051t0001 a0007c0025t0001 a0004c0051t0001 a0007c0025t0001	a0004c0051t0001g0019 a0007c0025t0001g0042 a0004c0051t0001g0019 a0007c0025t0001g0042	2	66	0.0303	-26	c.357 others(45): Show c.3576+1370_3576+1395delTGTGTGTGTGTGTGTGTGTGTGTGCG		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70						chr1	TogoVar
CSMD2_chr1_33508998_34170230	33989013	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0021 a0005c0015t0001g0021	1	66	0.0152	-26	c.517 others(45): Show c.517+43555_517+43580delATATATATATATATATATATATATAT		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70						chr1	TogoVar
CSMD3_chr8_112217928_113441939	112342975	ATATATAT others(19): Show ATATATATATATTTATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0051 a0002c0003t0002g0051	1	80	0.0125	-26	c.644 others(45): Show c.6443-1315_6443-1290delAATATATATATATAAATATATATATA		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	41/70						chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0033 a0002c0005t0001g0033	1	80	0.0125	-26	c.710 others(45): Show c.710-13449_710-13424delATATATATATATATATATATATATAT		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542614	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02451.hp2 others(3): Show HG01069.hp1 HG01071.hp1 HG02451.hp2 HG02615.hp2 HG02970.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0045 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0045 a0001c0001t0046	a0001c0001t0003g0223 a0001c0001t0009g0236 a0001c0001t0009g0267 others(3): Show a0001c0001t0003g0223 a0001c0001t0009g0236 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0045g0120 a0001c0001t0046g0219	6	390	0.0154	-26	c.230 others(43): Show c.230+7435_230+7460delCATATATATATATATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64277638	AATATATT others(19): Show AATATATTTAATAATATAGCAATATTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02109.hp1 others(28): Show HG01167.hp2 HG01169.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2 NA18939.hp2 NA18957.hp2 NA19002.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0036 a0001c0004t0035	a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 others(28): Show a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0011g0106 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0012g0116 a0001c0001t0012g0119 a0001c0001t0015g0150 a0001c0001t0021g0109 a0001c0001t0022g0168 a0001c0001t0023g0121 a0001c0001t0026g0173 a0001c0001t0036g0117 a0001c0004t0035g0118	31	176	0.1761	-26	c.182 others(45): Show c.182-18423_182-18398delCAATATTGCTATATTATTAAATATAT		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11						chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64277735	TAATATTG others(19): Show TAATATTGATATATTTAATAATATAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00621.hp1 others(58): Show HG00099.hp1 HG00323.hp1 HG00621.hp1 HG00733.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01496.hp2 HG01934.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18957.hp1 NA18974.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19030.hp1 NA19054.hp2 NA19067.hp1 NA19088.hp2 NA19091.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0031 a0001c0001t0036 a0001c0002t0001 a0001c0002t0006 a0001c0002t0025 a0001c0002t0027 a0001c0004t0035 a0002c0006t0001	a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0003g0146 others(58): Show a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0011g0107 a0001c0001t0011g0108 a0001c0001t0015g0150 a0001c0001t0021g0109 a0001c0001t0022g0168 a0001c0001t0026g0173 a0001c0001t0031g0124 a0001c0001t0036g0117 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0027 a0001c0002t0001g0042 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0006g0019 a0001c0002t0025g0054 a0001c0002t0027g0062 a0001c0004t0035g0118 a0002c0006t0001g0059	61	176	0.3466	-26	c.182 others(45): Show c.182-18520_182-18495delGCTATATTATTAAATATATCAATATT		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	2/11						chr15	TogoVar
CSNK2A1_chr20_467498_548790	485066	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0302 a0001c0001t0031g0302	1	316	0.0032	-26	c.106 others(44): Show c.1061-1016_1061-991delTTTTTTTTTTTTTTTTTTTTTTTTTT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446034	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0372 a0004c0005t0002g0372	1	386	0.0026	-26	c.-27 others(47): Show c.-270-19052_-270-19027delTTCTTTCTTTCTTTCTTTCTTTCT TT		CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr3	TogoVar
CSRP2_chr12_76853709_76884019	76869529	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03453.hp2 HG06807.hp2 HG01261.hp1 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0314 a0001c0001t0001g0343 a0001c0001t0001g0133 a0001c0001t0001g0314 a0001c0001t0001g0343	3	388	0.0077	-26	c.-1- others(41): Show c.-1-3294_-1-3269delGTGTGTGTGTGTGTGTGTGTGTGTGT		CSRP2	ENSG00000175183.10	transcript	ENST00000311083.10	protein_coding	1/5						chr12	TogoVar
CSTF3_chr11_33079584_33166480	33163901	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02896.hp2 NA21309.hp1 HG02647.hp2 HG02896.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0200 a0001c0001t0001g0294 a0001c0001t0001g0295	3	360	0.0083	-26	c.-26 others(37): Show c.-2602_-2577delAATATATATATATATATATATATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					2422		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163905	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	360	0.0028	-26	c.-26 others(37): Show c.-2606_-2581delAAAAAATATATATATATATATATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					2426		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163907	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG03540.hp2 HG00733.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0215 a0001c0001t0001g0201 a0001c0001t0001g0215	2	360	0.0056	-26	c.-26 others(37): Show c.-2608_-2583delAAAAAAAATATATATATATATATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding					2428		chr11	TogoVar
CT47A5_chrX_120958026_120971348	120960877	CCGACGCC others(19): Show CCGACGCCGGGTAGCGACGGGCGACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	130	0.0077	-26	c.22 others(37): Show c.2295_*2320delTGGTCGCCCGTCGCTACCCGGCGTCG		CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding					2148		chrX	TogoVar
CTBP2_chr10_124979317_125033071	124986281	GCGCGCGC others(19): Show GCGCGCGCGCGCACACACACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp2 others(65): Show HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01255.hp1 HG01361.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02129.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02523.hp1 HG02809.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG06807.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18994.hp1 NA19003.hp1 NA19005.hp2 NA19012.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0017	a0001c0001 a0002c0002 a0002c0010 others(6): Show a0001c0001 a0002c0002 a0002c0010 a0002c0025 a0002c0026 a0003c0004 a0004c0003 a0005c0006 a0017c0022	a0001c0001t0019 a0001c0001t0034 a0001c0001t0072 others(18): Show a0001c0001t0019 a0001c0001t0034 a0001c0001t0072 a0002c0002t0002 a0002c0002t0015 a0002c0002t0016 a0002c0002t0027 a0002c0002t0028 a0002c0002t0047 a0002c0002t0080 a0002c0002t0108 a0002c0002t0109 a0002c0002t0114 a0002c0010t0002 a0002c0025t0002 a0002c0026t0028 a0003c0004t0002 a0003c0004t0028 a0004c0003t0002 a0005c0006t0034 a0017c0022t0002	a0001c0001t0019g0090 a0001c0001t0019g0097 a0001c0001t0019g0125 others(54): Show a0001c0001t0019g0090 a0001c0001t0019g0097 a0001c0001t0019g0125 a0001c0001t0019g0145 a0001c0001t0034g0072 a0001c0001t0072g0051 a0002c0002t0002g0003 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0167 a0002c0002t0002g0170 a0002c0002t0002g0177 a0002c0002t0002g0180 a0002c0002t0002g0184 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0015g0019 a0002c0002t0015g0166 a0002c0002t0015g0172 a0002c0002t0015g0173 a0002c0002t0016g0016 a0002c0002t0016g0168 a0002c0002t0016g0169 a0002c0002t0016g0171 a0002c0002t0027g0021 a0002c0002t0027g0175 a0002c0002t0028g0219 a0002c0002t0047g0176 a0002c0002t0047g0181 a0002c0002t0080g0185 a0002c0002t0108g0204 a0002c0002t0109g0182 a0002c0002t0114g0213 a0002c0010t0002g0002 a0002c0010t0002g0162 a0002c0010t0002g0163 a0002c0025t0002g0208 a0002c0026t0028g0224 a0003c0004t0002g0004 a0003c0004t0002g0248 a0003c0004t0002g0252 a0003c0004t0002g0253 a0003c0004t0002g0257 a0003c0004t0002g0258 a0003c0004t0028g0251 a0004c0003t0002g0280 a0004c0003t0002g0285 a0004c0003t0002g0297 a0004c0003t0002g0299 a0005c0006t0034g0038 a0017c0022t0002g0157	68	380	0.1790	-26	c.32 others(37): Show c.3211_*3236delTGTGTGTGTGTGTGTGCGCGCGCGCG		CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	9/9				3211		chr10	TogoVar
CTCFL_chr20_57492166_57530140	57494161	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0046 a0001c0004t0011g0046	1	424	0.0024	-26	c.43 others(37): Show c.4363_*4388delCACACACACACACACACACACACACA		CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding					3004		chr20	TogoVar
CTCF_chr16_67557526_67644177	67563455	GGCTGGCT others(19): Show GGCTGGCTGAGCTGCTCGCACCTCTAC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	168	0.0060	-26	c.-12 others(43): Show c.-127+736_-127+761delGCTGAGCTGCTCGCACCTCTACGCTG		CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67629746	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19007.hp2 HG02145.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0088 a0001c0001t0001g0078 a0001c0001t0001g0088	2	168	0.0119	-26	c.183 others(43): Show c.1837+234_1837+259delTTTTTTTTTTTTTTTTTTTTTTTTTT		CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr16	TogoVar
CTDP1_chr18_79674803_79759503	79742141	TGAGGTGG others(19): Show TGAGGTGGAGGCCTGGGGGCAGCAGAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	378	0.0027	-26	c.274 others(45): Show c.2747+5623_2747+5648delGGTGGAGGCCTGGGGGCAGCAGAGGA		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSPL2_chr15_44422629_44534038	44432300	ATATTATT others(19): Show ATATTATTATTTTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG03225.hp1 others(1): Show HG02965.hp2 HG03209.hp1 HG03225.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 others(1): Show a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023	4	234	0.0171	-26	c.-25 others(43): Show c.-25+4540_-25+4565delTATTATTATTATTATTATTATTATTT		CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDSPL_chr3_37856880_37989469	37986630	GCAGGACC others(19): Show GCAGGACCACAGTGGGCAAGGCAGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0066 a0001c0001t0007g0066	1	166	0.0060	-26	c.57 others(37): Show c.5764_*5789delCAGGACCACAGTGGGCAAGGCAGTGA		CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding					2162		chr3	TogoVar
CTIF_chr18_48534031_48868217	48669790	CATTTATA others(19): Show CATTTATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	144	0.0069	-26	c.432 others(41): Show c.432-876_432-851delTTATATATATATATATATATATATAT		CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48669793	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0051 a0001c0001t0023g0051	1	144	0.0069	-26	c.432 others(41): Show c.432-853_432-828delTATATATATATATATATATATATATA		CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTLA4_chr2_203862771_203878965	203873327	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp1 others(42): Show HG00140.hp2 HG00408.hp1 HG00423.hp1 HG01256.hp2 HG01358.hp2 HG01928.hp2 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02602.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03491.hp1 HG03831.hp2 HG04184.hp1 HG04228.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18987.hp2 NA18993.hp1 NA19002.hp2 NA19004.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19080.hp2 NA19082.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0002c0002t0011 others(1): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0011 a0002c0002t0033	a0001c0001t0003g0002 a0002c0002t0003g0001 a0002c0002t0003g0025 others(3): Show a0001c0001t0003g0002 a0002c0002t0003g0001 a0002c0002t0003g0025 a0002c0002t0003g0031 a0002c0002t0011g0001 a0002c0002t0033g0001	45	420	0.1071	-26	c.54 others(35): Show c.546_*571delATATATATATATATATATATATATAT		CTLA4	ENSG00000163599.18	transcript	ENST00000648405.2	protein_coding	4/4				546	INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79508955	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	68	0.0147	-26	c.-42 others(37): Show c.-4257_-4232delTATATATATATATATATATATATATA		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding					4095		chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79552709	GCTTTTGG others(19): Show GCTTTTGGCTTGCACCCTATGAAGCAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02148.hp2 HG00642.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0066 a0001c0005t0002g0063 a0001c0001t0002g0066 a0001c0005t0002g0063	2	68	0.0294	-26	c.-6+ others(43): Show c.-6+39504_-6+39529delTTTTGGCTTGCACCCTATGAAGCAAC		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr2	TogoVar

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