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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRTC3_chr15_90524923_90650345	90630756	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0149 a0001c0006t0003g0149	1	276	0.0036	26	c.126 others(45): Show c.1266+1231_1266+1256dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647191	A A	ACAATCCT others(19): Show ACAATCCTCCTCCACACCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	276	0.0036	26	c.50 others(37): Show c.5051_*5052insCAATCCTCCTCCACACCCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1847		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647211	T T	TCCTCCTC others(19): Show TCCTCCTCCTCAATCCTCCTCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0081 a0002c0002t0028g0081	1	276	0.0036	26	c.50 others(37): Show c.5071_*5072insCCTCCTCCTCAATCCTCCTCCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1867		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647220	A A	ACAATCCT others(19): Show ACAATCCTCCTCCACATCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0005 a0003c0013t0005	a0003c0013t0005g0014 a0003c0013t0005g0014	1	276	0.0036	26	c.50 others(37): Show c.5080_*5081insCAATCCTCCTCCACATCCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1876		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647292	T T	TCCTCCTC others(19): Show TCCTCCTCCTCAATCCTCCTCCACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA18940.hp1 NA18944.hp2 others(3): Show HG00323.hp2 NA18940.hp1 NA18944.hp2 NA18950.hp1 NA18984.hp2 NA18991.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0008 a0001c0004t0005 a0001c0004t0008	a0001c0004t0005g0004 a0001c0004t0005g0005 a0001c0004t0005g0009 others(3): Show a0001c0004t0005g0004 a0001c0004t0005g0005 a0001c0004t0005g0009 a0001c0004t0008g0007 a0001c0004t0008g0008 a0001c0004t0008g0015	6	276	0.0217	26	c.51 others(37): Show c.5152_*5153insCCTCCTCCTCAATCCTCCTCCACACC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1948		chr15	TogoVar
CRTC3_chr15_90524923_90650345	90647301	A A	ACAATCCT others(19): Show ACAATCCTCCTCCACACCCCTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG02074.hp2 NA20752.hp2 HG01070.hp1 HG02074.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0059 a0001c0001t0001g0209 a0002c0002t0004g0114 a0001c0001t0001g0059 a0001c0001t0001g0209 a0002c0002t0004g0114	3	276	0.0109	26	c.51 others(37): Show c.5161_*5162insCAATCCTCCTCCACACCCCTCCTCCT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1957		chr15	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(19): Show TGTGTGTGTGCACGCGCGTGAGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02630.hp2 others(2): Show HG02280.hp1 HG02622.hp1 HG02630.hp2 HG02976.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 others(2): Show a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0020g0304 a0001c0001t0020g0305	5	344	0.0145	26	c.-19 others(37): Show c.-1912_-1911insGTGTGTGTGCACGCGCGTGAGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(19): Show TGTGTGTGTGCACGCGCGTGCGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(138): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0041 a0001c0001t0045 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0068 a0001c0001t0069 a0001c0005t0028 a0002c0002t0009 a0006c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(129): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0113 a0001c0001t0002g0141 a0001c0001t0002g0165 a0001c0001t0004g0008 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0005g0105 a0001c0001t0006g0014 a0001c0001t0006g0097 a0001c0001t0006g0110 a0001c0001t0007g0001 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0012 a0001c0001t0007g0015 a0001c0001t0007g0095 a0001c0001t0007g0127 a0001c0001t0008g0181 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0211 a0001c0001t0008g0222 a0001c0001t0010g0307 a0001c0001t0011g0143 a0001c0001t0012g0107 a0001c0001t0014g0001 a0001c0001t0014g0071 a0001c0001t0015g0086 a0001c0001t0015g0104 a0001c0001t0016g0047 a0001c0001t0016g0048 a0001c0001t0016g0049 a0001c0001t0016g0063 a0001c0001t0016g0126 a0001c0001t0017g0111 a0001c0001t0017g0246 a0001c0001t0018g0002 a0001c0001t0020g0212 a0001c0001t0020g0213 a0001c0001t0022g0052 a0001c0001t0022g0056 a0001c0001t0022g0135 a0001c0001t0024g0067 a0001c0001t0030g0044 a0001c0001t0030g0128 a0001c0001t0032g0140 a0001c0001t0035g0142 a0001c0001t0036g0014 a0001c0001t0041g0221 a0001c0001t0045g0096 a0001c0001t0050g0011 a0001c0001t0051g0011 a0001c0001t0053g0112 a0001c0001t0054g0116 a0001c0001t0055g0149 a0001c0001t0057g0123 a0001c0001t0058g0098 a0001c0001t0060g0125 a0001c0001t0061g0081 a0001c0001t0068g0117 a0001c0001t0069g0306 a0001c0005t0028g0186 a0002c0002t0009g0017 a0002c0002t0009g0124 a0002c0002t0009g0187 a0002c0002t0009g0189 a0006c0007t0001g0122	141	344	0.4099	26	c.-19 others(37): Show c.-1912_-1911insGTGTGTGTGCACGCGCGTGCGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(19): Show CCCTCCCTCCCTCCCTCCCTCCTCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	402	0.0025	26	c.301 others(41): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218690	A A	AAGAGAGA others(19): Show AAGAGAGAGAGGGAGGGAGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	464	0.0022	26	c.-10 others(37): Show c.-1003_-1002insAGAGAGAGAGGGAGGGAGGGAGGGAG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		948		chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218820	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	464	0.0022	26	c.-87 others(35): Show c.-873_-872insAGAAAGAAAGAAAGAAAGAAAGAAAG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		818		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp1 HG01891.hp1 HG01175.hp1 HG01884.hp1 HG01891.hp1	a0006 a0007 a0051 a0006 a0007 a0051	a0006c0005 a0007c0007 a0051c0035 a0006c0005 a0007c0007 a0051c0035	a0006c0005t0004 a0007c0007t0012 a0051c0035t0001 a0006c0005t0004 a0007c0007t0012 a0051c0035t0001	a0006c0005t0004g0119 a0007c0007t0012g0158 a0051c0035t0001g0250 a0006c0005t0004g0119 a0007c0007t0012g0158 a0051c0035t0001g0250	3	272	0.0110	26	c.173 others(45): Show c.173+16542_173+16567dupATATATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106447547	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19010.hp2 HG03098.hp1 NA19010.hp2	a0001 a0065 a0001 a0065	a0001c0001 a0065c0077 a0001c0001 a0065c0077	a0001c0001t0001 a0065c0077t0001 a0001c0001t0001 a0065c0077t0001	a0001c0001t0001g0207 a0065c0077t0001g0221 a0001c0001t0001g0207 a0065c0077t0001g0221	2	272	0.0074	26	c.174 others(43): Show c.174-4146_174-4121dupATATATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG3_chr3_97817011_97949984	97841218	G G	GTATATGT others(19): Show GTATATGTATATATGTGTGTATATACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02280.hp1 others(6): Show HG01884.hp1 HG01891.hp1 HG02280.hp1 HG02486.hp2 HG02886.hp1 HG03209.hp1 HG03486.hp1 HG03540.hp2 NA20300.hp1	a0002 a0006 a0016 others(1): Show a0002 a0006 a0016 a0031	a0002c0018 a0006c0008 a0016c0019 others(1): Show a0002c0018 a0006c0008 a0016c0019 a0031c0031	a0002c0018t0001 a0006c0008t0001 a0016c0019t0001 others(1): Show a0002c0018t0001 a0006c0008t0001 a0016c0019t0001 a0031c0031t0001	a0002c0018t0001g0159 a0006c0008t0001g0151 a0006c0008t0001g0152 others(6): Show a0002c0018t0001g0159 a0006c0008t0001g0151 a0006c0008t0001g0152 a0006c0008t0001g0153 a0006c0008t0001g0154 a0006c0008t0001g0157 a0016c0019t0001g0155 a0016c0019t0001g0156 a0031c0031t0001g0160	9	316	0.0285	26	c.150 others(43): Show c.150-1959_150-1934dupGTATATACATATATGTATATATGTGT	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRYBG3_chr3_97817011_97949984	97946586	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0027 a0004c0005t0001g0027	1	316	0.0032	26	c.32 others(37): Show c.3272_*3273insTATATATATATATATATATATATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(19): Show CTTCTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01496.hp2 HG02015.hp2 others(24): Show HG00558.hp1 HG01496.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02572.hp1 HG03654.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18942.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18995.hp2 NA18999.hp1 NA19005.hp2 NA19009.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0005 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0005 a0001c0001t0004g0009 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0096 a0001c0002t0001g0109 a0001c0002t0013g0027 a0001c0003t0001g0090	27	452	0.0597	26	c.17 others(37): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20466682	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	250	0.0040	26	c.276 others(45): Show c.276+22662_276+22687dupCACACACACACACACACACACACACA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20497259	A A	ACATACAC others(19): Show ACATACACACAACTACACACACACCAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02109.hp2 others(11): Show HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02647.hp1 HG02970.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG04228.hp1 NA18906.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0001g0216 others(11): Show a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0001g0216 a0001c0001t0002g0021 a0001c0001t0002g0069 a0001c0001t0002g0209 a0001c0002t0001g0002 a0001c0002t0001g0082 a0001c0002t0001g0088 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0114 a0001c0002t0001g0135 a0001c0002t0001g0245	14	250	0.0560	26	c.150 others(43): Show c.150-7789_150-7764dupGTGGTGTGTGTGTAGTTGTGTGTATG	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	2/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02572.hp2 others(1): Show HG01891.hp1 HG02559.hp2 HG02572.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0187	4	360	0.0111	26	c.332 others(43): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSAD_chr12_53152663_53185925	53184114	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	26	c.-34 others(37): Show c.-3499_-3474dupACACACACACACACACACACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3190		chr12	TogoVar
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01346.hp1 others(12): Show HG00423.hp2 HG00621.hp1 HG01346.hp1 HG01358.hp1 HG02004.hp1 HG02165.hp1 NA18941.hp2 NA18950.hp2 NA18968.hp1 NA18969.hp2 NA18980.hp2 NA18982.hp1 NA19074.hp1 NA19091.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0003 a0001c0001t0001 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0089 a0002c0002t0002g0007 a0002c0002t0002g0069 others(1): Show a0001c0001t0001g0089 a0002c0002t0002g0007 a0002c0002t0002g0069 a0003c0003t0003g0014	15	318	0.0472	26	c.17- others(41): Show c.17-1769_17-1768insTATATATATATATATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG02602.hp1 others(15): Show HG00140.hp1 HG01081.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp2 NA18948.hp1 NA18965.hp1 NA18971.hp1 NA18977.hp1 NA18995.hp1 NA19011.hp2 NA19067.hp1 NA19089.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0033 others(2): Show a0002c0002t0002g0005 a0002c0002t0002g0017 a0002c0002t0002g0033 a0002c0002t0002g0073 a0002c0002t0002g0074	18	318	0.0566	26	c.17- others(41): Show c.17-1786_17-1785insGTATATATATATATATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709625	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0025 a0001c0001t0012g0025	1	211	0.0047	26	c.-51 others(35): Show c.-514_-513insTTCTCTCTCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		353		chrX	TogoVar
CSDE1_chr1_114711916_114762984	114736601	A A	ACATATTC others(19): Show ACATATTCCTCAATATGTATTAGACCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02145.hp1 others(12): Show HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp2 NA19043.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0019	a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0001g0151 others(11): Show a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0006g0046 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0010g0042 a0001c0001t0010g0043 a0001c0001t0019g0153	15	328	0.0457	26	c.500 others(41): Show c.500+156_500+157insAGGTCTAATACATATTGAGGAATATG	CSDE1	ENSG00000009307.17	transcript	ENST00000358528.9	protein_coding	6/19			chr1	TogoVar
CSE1L_chr20_49041312_49101949	49065312	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA20905.hp2 NA18978.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0069 a0001c0001t0002g0035 a0001c0001t0002g0069	2	386	0.0052	26	c.229 others(41): Show c.229-880_229-879insTTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24			chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18944.hp1 HG00621.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0048 a0001c0001t0002g0023 a0001c0001t0002g0048	2	386	0.0052	26	c.229 others(41): Show c.229-877_229-852dupTTTTTTTTTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF2RA_chrX_1263814_1314935	1281182	T T	TCCTCCTC others(19): Show TCCTCCTCCTGCTCCTCCTCCTCCTTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG02109.hp1 HG03453.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0020 a0002c0003 a0003c0020	a0002c0003t0001 a0003c0020t0005 a0002c0003t0001 a0003c0020t0005	a0002c0003t0001g0003 a0003c0020t0005g0129 a0002c0003t0001g0003 a0003c0020t0005g0129	2	159	0.0126	26	c.-26 others(43): Show c.-26-1496_-26-1495insCCTCCTCCTGCTCCTCCTCCTCCTTC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12			chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01261.hp2 others(9): Show HG00639.hp2 HG00642.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02647.hp1 HG03041.hp1 HG03492.hp1 NA18952.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0002 a0001c0006 a0002c0003 others(1): Show a0001c0002 a0001c0006 a0002c0003 a0013c0014	a0001c0002t0002 a0001c0002t0004 a0001c0006t0002 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0006t0002 a0002c0003t0003 a0002c0003t0015 a0013c0014t0006	a0001c0002t0002g0027 a0001c0002t0002g0046 a0001c0002t0002g0103 others(9): Show a0001c0002t0002g0027 a0001c0002t0002g0046 a0001c0002t0002g0103 a0001c0002t0002g0130 a0001c0002t0002g0164 a0001c0002t0004g0095 a0001c0006t0002g0063 a0002c0003t0003g0099 a0002c0003t0003g0194 a0002c0003t0003g0195 a0002c0003t0015g0019 a0013c0014t0006g0230	12	238	0.0504	26	c.122 others(43): Show c.1228-281_1228-256dupGTGTGTGTGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(19): Show CTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0227 a0001c0002t0032g0227	1	238	0.0042	26	c.-29 others(45): Show c.-296-7307_-296-7306insTATATATATATATATATAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0238 a0001c0002t0048g0238	1	238	0.0042	26	c.-29 others(45): Show c.-296-7307_-296-7306insTATATATATATAGAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	238	0.0042	26	c.-29 others(45): Show c.-296-7307_-296-7306insTATATATAGAGAGAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(19): Show CTATATATATATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0093 a0002c0003t0005g0093	1	238	0.0042	26	c.-29 others(45): Show c.-296-8346_-296-8345insTATATATATGTATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(19): Show CTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 NA19011.hp1 others(1): Show HG02451.hp1 HG02559.hp2 NA19011.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0019 a0002c0003t0007 a0002c0003t0012 others(1): Show a0001c0001t0019 a0002c0003t0007 a0002c0003t0012 a0002c0003t0037	a0001c0001t0019g0016 a0002c0003t0007g0176 a0002c0003t0012g0066 others(1): Show a0001c0001t0019g0016 a0002c0003t0007g0176 a0002c0003t0012g0066 a0002c0003t0037g0233	4	238	0.0168	26	c.-29 others(45): Show c.-296-8371_-296-8346dupTATATATATATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00738.hp2 others(8): Show HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01192.hp2 HG01257.hp2 HG02056.hp1 HG02615.hp2 HG02809.hp2 HG03041.hp1 HG04115.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0005 a0001c0002t0014 a0002c0003t0003 a0002c0003t0012 a0002c0003t0034	a0001c0001t0002g0217 a0001c0002t0002g0008 a0001c0002t0002g0067 others(8): Show a0001c0001t0002g0217 a0001c0002t0002g0008 a0001c0002t0002g0067 a0001c0002t0002g0103 a0001c0002t0002g0130 a0001c0002t0002g0236 a0001c0002t0005g0050 a0001c0002t0014g0120 a0002c0003t0003g0105 a0002c0003t0012g0066 a0002c0003t0034g0054	11	238	0.0462	26	c.-29 others(47): Show c.-296-47491_-296-47490insATATATATATATATATATATATAT AT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAAAGAAA others(19): Show AAAAGAAAGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0048 a0002c0003t0003g0048	1	238	0.0042	26	c.-29 others(45): Show c.-297+2298_-297+2299insCTTTCTTTCTTTCTTTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0107 a0004c0009t0003g0107	1	238	0.0042	26	c.-39 others(47): Show c.-391-64945_-391-64944insCTCTCTTTCTTTCTTTCTTTCTTT CT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43188636	A A	AAAATCAA others(19): Show AAAATCAAGATGCTGTCAGGGCTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	398	0.0025	26	c.50 others(37): Show c.5094_*5095insAAATCAAGATGCTGTCAGGGCTGCAT	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding		3335		chr10	TogoVar
CSH1_chr17_63889918_63901574	63898148	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 NA18747.hp1 HG01515.hp2 NA18747.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0001 a0001c0001t0001 a0003c0008t0001	a0001c0001t0001g0001 a0003c0008t0001g0025 a0001c0001t0001g0001 a0003c0008t0001g0025	2	428	0.0047	26	c.-16 others(37): Show c.-1638_-1637insAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1575		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 NA18968.hp2 NA18999.hp2 others(2): Show HG01167.hp1 NA18968.hp2 NA18999.hp2 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	428	0.0117	26	c.-16 others(37): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898164	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	26	c.-16 others(37): Show c.-1654_-1653insAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1591		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898168	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0009 a0001c0005t0002g0009	1	428	0.0023	26	c.-16 others(37): Show c.-1658_-1657insAAGAAAGAAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1595		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTCTCTTT others(19): Show CTCTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0015 a0003c0007t0003g0015	1	428	0.0023	26	c.-16 others(37): Show c.-1662_-1661insAAGAAAGAAAGAAAGAAAGAAAGAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSMD1_chr8_2930361_4999914	2974063	G G	GTGGTAGA others(19): Show GTGGTAGAGGATGATGGTAGAGGATGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA20129.hp2 HG01255.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0111 a0002c0031 a0001c0111 a0002c0031	a0001c0111t0045 a0002c0031t0015 a0001c0111t0045 a0002c0031t0015	a0001c0111t0045g0063 a0002c0031t0015g0001 a0001c0111t0045g0063 a0002c0031t0015g0001	2	126	0.0159	26	c.874 others(43): Show c.8740+362_8740+387dupTCATCCTCTACCATCATCCTCTACCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	56/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	126	0.0079	26	c.591 others(45): Show c.5914+2512_5914+2537dupAAAAAAAAAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(19): Show GGGGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG01934.hp1 others(7): Show HG00735.hp2 HG01261.hp2 HG01934.hp1 HG02055.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02922.hp2 HG03195.hp2 NA19043.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0013 a0016 a0026 a0029 a0031	a0001c0003 a0001c0073 a0001c0093 others(7): Show a0001c0003 a0001c0073 a0001c0093 a0002c0030 a0003c0057 a0013c0027 a0016c0063 a0026c0082 a0029c0028 a0031c0069	a0001c0003t0019 a0001c0073t0007 a0001c0093t0009 others(7): Show a0001c0003t0019 a0001c0073t0007 a0001c0093t0009 a0002c0030t0016 a0003c0057t0080 a0013c0027t0003 a0016c0063t0010 a0026c0082t0052 a0029c0028t0024 a0031c0069t0043	a0001c0003t0019g0107 a0001c0073t0007g0108 a0001c0093t0009g0007 others(7): Show a0001c0003t0019g0107 a0001c0073t0007g0108 a0001c0093t0009g0007 a0002c0030t0016g0122 a0003c0057t0080g0075 a0013c0027t0003g0099 a0016c0063t0010g0045 a0026c0082t0052g0097 a0029c0028t0024g0040 a0031c0069t0043g0100	10	126	0.0794	26	c.562 others(45): Show c.5621-1628_5621-1627insACACACACACACACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02572.hp2 NA19060.hp1 HG01074.hp1 HG02572.hp2 NA19060.hp1	a0001 a0007 a0032 a0001 a0007 a0032	a0001c0007 a0007c0029 a0032c0011 a0001c0007 a0007c0029 a0032c0011	a0001c0007t0001 a0007c0029t0011 a0032c0011t0065 a0001c0007t0001 a0007c0029t0011 a0032c0011t0065	a0001c0007t0001g0035 a0007c0029t0011g0054 a0032c0011t0065g0101 a0001c0007t0001g0035 a0007c0029t0011g0054 a0032c0011t0065g0101	3	126	0.0238	26	c.562 others(45): Show c.5621-1653_5621-1628dupACACACACACACACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3237695	C C	CAAATATA others(19): Show CAAATATAATTTTTATAATTATACTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01074.hp1 HG01123.hp2 others(3): Show HG00735.hp2 HG01074.hp1 HG01123.hp2 HG01255.hp2 HG02451.hp1 HG03017.hp1	a0001 a0002 a0032 a0001 a0002 a0032	a0001c0002 a0001c0003 a0001c0049 others(3): Show a0001c0002 a0001c0003 a0001c0049 a0001c0073 a0002c0051 a0032c0011	a0001c0002t0061 a0001c0003t0008 a0001c0049t0002 others(3): Show a0001c0002t0061 a0001c0003t0008 a0001c0049t0002 a0001c0073t0007 a0002c0051t0006 a0032c0011t0065	a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0049t0002g0071 others(3): Show a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0049t0002g0071 a0001c0073t0007g0108 a0002c0051t0006g0081 a0032c0011t0065g0101	6	126	0.0476	26	c.415 others(45): Show c.4154-7465_4154-7464insATAGTATAATTATAAAAATTATATTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3237823	C C	CAAATATA others(19): Show CAAATATAATTTTTATAATTATACTAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01934.hp2 HG01243.hp2 HG01934.hp2	a0004 a0035 a0004 a0035	a0004c0099 a0035c0098 a0004c0099 a0035c0098	a0004c0099t0014 a0035c0098t0025 a0004c0099t0014 a0035c0098t0025	a0004c0099t0014g0020 a0035c0098t0025g0019 a0004c0099t0014g0020 a0035c0098t0025g0019	2	126	0.0159	26	c.415 others(45): Show c.4154-7593_4154-7592insATAGTATAATTATAAAAATTATATTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	26/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3382507	T T	TTATATAT others(19): Show TTATATATATATAAATTTATATAAATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0007 a0001c0073t0007	a0001c0073t0007g0108 a0001c0073t0007g0108	1	126	0.0079	26	c.278 others(45): Show c.2782+4961_2782+4986dupTATTTATATAAATTTATATATATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	18/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3411972	A A	ATATATAC others(19): Show ATATATACACGTATATATGTATACGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18982.hp1 HG02886.hp2 NA18982.hp1	a0002 a0004 a0002 a0004	a0002c0078 a0004c0086 a0002c0078 a0004c0086	a0002c0078t0044 a0004c0086t0002 a0002c0078t0044 a0004c0086t0002	a0002c0078t0044g0064 a0004c0086t0002g0118 a0002c0078t0044g0064 a0004c0086t0002g0118	2	126	0.0159	26	c.156 others(45): Show c.1562-2368_1562-2367insCACGTATACATATATACGTGTATATA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)