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
CRPPA_chr7_16082525_16426538	16254771	C C	CAGAAAGA others(21): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0082 a0002c0002t0082	a0002c0002t0082g0250 a0002c0002t0082g0250	1	290	0.0035	28	c.111 others(47): Show c.1119+3618_1119+3619insTTCTTTCTTTCTTTCTTTCTTTCTTT CT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	8/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16303477	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0266 a0002c0002t0004g0266	1	290	0.0035	28	c.790 others(45): Show c.790-2012_790-2011insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	4/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0034 a0001c0001t0035g0034	1	290	0.0035	28	c.535 others(47): Show c.535-13688_535-13687insATATATTTTTTTTTTTTTTTTTTTTT TT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRPPA_chr7_16082525_16426538	16389928	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0011 a0001c0001t0028g0011	1	290	0.0035	28	c.535 others(47): Show c.535-13688_535-13687insATATATATATTTTTTTTTTTTTTTTT TT	CRPPA	ENSG00000214960.11	transcript	ENST00000407010.7	protein_coding	2/9			chr7	TogoVar
CRTC1_chr19_18678680_18787333	18689564	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0009 a0001c0001t0004g0010	2	274	0.0073	28	c.126 others(45): Show c.126+5758_126+5759insATATATATATATATATATATATATATAT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18689583	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01243.hp1 others(11): Show HG00642.hp2 HG01109.hp2 HG01243.hp1 HG01496.hp1 HG01515.hp1 HG02004.hp2 HG02683.hp1 HG03195.hp1 HG03654.hp2 HG03669.hp1 HG04228.hp1 NA18984.hp2 NA19063.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0003t0002	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0079 others(11): Show a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0236 a0001c0001t0002g0031 a0001c0001t0002g0080 a0001c0001t0005g0036 a0001c0001t0006g0035 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0013g0065 a0001c0003t0002g0218	14	274	0.0511	28	c.126 others(45): Show c.126+5758_126+5759insATATATATATATATATATATATATGTAT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18689583	A A	ATATATAT others(21): Show ATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19005.hp2 NA18981.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0232 a0001c0001t0002g0098 a0001c0001t0002g0232	2	274	0.0073	28	c.126 others(45): Show c.126+5758_126+5759insATATATATATATATATATATGTATGTAT	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRTC1_chr19_18678680_18787333	18713546	T T	TGCACCCT others(21): Show TGCACCCTTAGGCGTCCTCCTCGTGCCCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(190): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0002c0005 a0003c0004 a0005c0009 a0006c0010 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0007t0008 a0002c0002t0003 a0002c0002t0010 a0002c0002t0017 a0002c0002t0020 a0002c0002t0021 a0002c0005t0003 a0003c0004t0002 a0003c0004t0023 a0003c0004t0026 a0005c0009t0001 a0006c0010t0001 a0007c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(190): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0269 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0110 a0001c0001t0002g0148 a0001c0001t0002g0211 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0247 a0001c0001t0003g0052 a0001c0001t0003g0147 a0001c0001t0003g0253 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0039 a0001c0001t0004g0047 a0001c0001t0004g0215 a0001c0001t0005g0026 a0001c0001t0005g0036 a0001c0001t0005g0042 a0001c0001t0005g0055 a0001c0001t0005g0063 a0001c0001t0005g0138 a0001c0001t0005g0146 a0001c0001t0006g0029 a0001c0001t0006g0035 a0001c0001t0006g0046 a0001c0001t0006g0053 a0001c0001t0006g0074 a0001c0001t0006g0225 a0001c0001t0008g0151 a0001c0001t0011g0014 a0001c0001t0011g0040 a0001c0001t0013g0065 a0001c0001t0013g0069 a0001c0001t0014g0023 a0001c0001t0015g0005 a0001c0001t0018g0136 a0001c0001t0027g0004 a0001c0001t0029g0062 a0001c0001t0030g0041 a0001c0001t0031g0251 a0001c0007t0008g0025 a0002c0002t0003g0048 a0002c0002t0003g0089 a0002c0002t0003g0117 a0002c0002t0003g0133 a0002c0002t0003g0155 a0002c0002t0003g0162 a0002c0002t0003g0163 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0180 a0002c0002t0003g0190 a0002c0002t0003g0191 a0002c0002t0003g0198 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0207 a0002c0002t0003g0209 a0002c0002t0003g0210 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0010g0154 a0002c0002t0010g0263 a0002c0002t0017g0176 a0002c0002t0020g0216 a0002c0002t0021g0217 a0002c0005t0003g0158 a0002c0005t0003g0199 a0002c0005t0003g0254 a0003c0004t0002g0120 a0003c0004t0002g0121 a0003c0004t0002g0240 a0003c0004t0002g0242 a0003c0004t0002g0243 a0003c0004t0023g0118 a0003c0004t0026g0241 a0005c0009t0001g0068 a0006c0010t0001g0141 a0007c0006t0001g0149	193	274	0.7044	28	c.127 others(47): Show c.127-29363_127-29336dupGCACCCTTAGGCGTCCTCCTCGTGCC CC	CRTC1	ENSG00000105662.16	transcript	ENST00000321949.13	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGCACGCGCGTGAGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02717.hp2 others(2): Show HG02109.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 others(2): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0003g0208	5	344	0.0145	28	c.-19 others(39): Show c.-1912_-1911insGTGTGTGTGTGCACGCGCGTGAGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRX_chr19_47816937_47848324	47820134	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGCACGCGCGTGCGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG01192.hp1 others(15): Show HG00423.hp1 HG00544.hp2 HG01192.hp1 HG01243.hp2 HG02080.hp1 HG02602.hp2 HG02886.hp2 HG03139.hp2 HG03491.hp2 HG04204.hp1 HG06807.hp1 NA18975.hp2 NA18993.hp1 NA19011.hp1 NA19060.hp2 NA19062.hp2 NA19084.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0044 a0001c0001t0064 a0004c0004t0033	a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0001g0102 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0003g0032 a0001c0001t0004g0114 a0001c0001t0006g0133 a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0012g0092 a0001c0001t0015g0115 a0001c0001t0015g0119 a0001c0001t0018g0002 a0001c0001t0018g0192 a0001c0001t0044g0193 a0001c0001t0064g0043 a0004c0004t0033g0191	18	344	0.0523	28	c.-19 others(39): Show c.-1912_-1911insGTGTGTGTGTGCACGCGCGTGCGTGTGC	CRX	ENSG00000105392.17	transcript	ENST00000221996.12	protein_coding		1802		chr19	TogoVar
CRY1_chr12_106986364_107098549	107026160	T T	TATATATA others(21): Show TATATATATATATTACATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	320	0.0031	28	c.159 others(45): Show c.159-3969_159-3968insTTTATATATATATGTAATATATATATAT	CRY1	ENSG00000008405.12	transcript	ENST00000008527.10	protein_coding	1/12			chr12	TogoVar
CRYBA4_chr22_26616963_26635669	26626231	G G	GTCTCTAC others(21): Show GTCTCTACTGAAAATACAAAAAAATTAGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	402	0.0025	28	c.300 others(43): Show c.300+611_300+638dupCTCTACTGAAAATACAAAAAAATTAGTT	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627334	C C	CCCCTCCC others(21): Show CCCCTCCCTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02602.hp1 HG02602.hp2 others(8): Show HG02132.hp2 HG02602.hp1 HG02602.hp2 NA18747.hp2 NA18957.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp2 NA18983.hp1 NA18999.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0218 a0001c0001t0001g0219 others(7): Show a0001c0001t0001g0046 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0296	11	402	0.0274	28	c.301 others(43): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCCTCCCTCC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02683.hp1 HG02683.hp2 others(1): Show HG02280.hp2 HG02683.hp1 HG02683.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0292 others(1): Show a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0292 a0001c0001t0001g0295	4	402	0.0100	28	c.301 others(43): Show c.301-928_301-927insCTCCCTCCCTCCCTCCCTCCCTCCCTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBA4_chr22_26616963_26635669	26627359	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	402	0.0025	28	c.301 others(43): Show c.301-928_301-927insCTCCCTCCCTCCCTCCTTTCTTTCTTTC	CRYBA4	ENSG00000196431.4	transcript	ENST00000354760.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
CRYBB2_chr22_25214639_25236869	25218820	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	464	0.0022	28	c.-87 others(37): Show c.-873_-872insAGAAAGAAAGAGAAAGAAAGAAAGAAAG	CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding		818		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106377621	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG03139.hp2 others(1): Show HG02055.hp2 HG02647.hp2 HG03139.hp2 HG03225.hp1	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0022	a0003c0038 a0005c0006 a0006c0005 others(1): Show a0003c0038 a0005c0006 a0006c0005 a0022c0061	a0003c0038t0007 a0005c0006t0008 a0006c0005t0004 others(1): Show a0003c0038t0007 a0005c0006t0008 a0006c0005t0004 a0022c0061t0001	a0003c0038t0007g0144 a0005c0006t0008g0161 a0006c0005t0004g0179 others(1): Show a0003c0038t0007g0144 a0005c0006t0008g0161 a0006c0005t0004g0179 a0022c0061t0001g0096	4	272	0.0147	28	c.173 others(47): Show c.173+16567_173+16568insATATATATATATATATATATATATAT AT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422344	A A	ATTTATTT others(21): Show ATTTATTTATTTATTTATTTATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03139.hp2 NA19030.hp2 HG01175.hp1 HG03139.hp2 NA19030.hp2	a0005 a0006 a0024 a0005 a0006 a0024	a0005c0006 a0006c0005 a0024c0027 a0005c0006 a0006c0005 a0024c0027	a0005c0006t0008 a0006c0005t0004 a0024c0027t0004 a0005c0006t0008 a0006c0005t0004 a0024c0027t0004	a0005c0006t0008g0161 a0006c0005t0004g0119 a0024c0027t0004g0078 a0005c0006t0008g0161 a0006c0005t0004g0119 a0024c0027t0004g0078	3	272	0.0110	28	c.174 others(47): Show c.174-29347_174-29346insATTTATTTATTTATTTATTTTTTTTT TT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106433729	A A	ATATATAT others(21): Show ATATATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0231 a0009c0012t0002g0231	1	272	0.0037	28	c.174 others(47): Show c.174-17959_174-17958insTATATGTATATATATATATATGTATA TA	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(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0212 a0001c0022t0002g0212	1	272	0.0037	28	c.174 others(45): Show c.174-4121_174-4120insATATATATATATATATATATATATATAT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG3_chr3_97817011_97949984	97946586	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0151 a0006c0008t0001g0151	1	316	0.0032	28	c.32 others(39): Show c.3272_*3273insTATATATATATATATATATATATATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYBG3_chr3_97817011_97949984	97946586	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG02258.hp2 HG03139.hp2	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0008 a0017c0017t0008	a0017c0017t0008g0011 a0017c0017t0008g0011	2	316	0.0063	28	c.32 others(39): Show c.3272_*3273insTGTATATATATATATATATATATATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYGN_chr7_151423832_151445141	151428290	C C	CTTCTTTT others(21): Show CTTCTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03492.hp1 NA18993.hp2 HG02965.hp1 HG03492.hp1 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0002 a0001c0003t0001g0030 a0001c0002t0001g0002 a0001c0003t0001g0030	3	452	0.0066	28	c.17 others(39): Show c.1757_*1758insAAAAAAAAAAAAAAAAAAAAAAAAAGAA	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		541		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20453396	T T	TTTTGAAT others(21): Show TTTTGAATATTTTGAAATATTCTAATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01070.hp1 others(49): Show HG00099.hp2 HG00639.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG02056.hp1 HG02257.hp1 HG02300.hp2 HG03195.hp2 HG04115.hp1 HG04228.hp1 NA18945.hp1 NA18953.hp1 NA18957.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19070.hp2 NA19084.hp1 NA19085.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0006t0001	a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0046 others(49): Show a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0226 a0001c0001t0002g0037 a0001c0001t0002g0110 a0001c0001t0002g0154 a0001c0001t0002g0186 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0221 a0001c0001t0002g0244 a0001c0002t0001g0114 a0001c0002t0001g0146 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0208 a0001c0002t0002g0036 a0001c0002t0002g0075 a0001c0002t0002g0220 a0001c0003t0001g0019 a0001c0003t0001g0022 a0001c0003t0001g0028 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0004t0002g0042 a0001c0006t0001g0080	52	250	0.2080	28	c.277 others(47): Show c.277-13670_277-13643dupTATATTAGAATATTTCAAAATATTCA AA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33605530	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp1 HG02109.hp1 others(2): Show HG01106.hp1 HG02055.hp1 HG02109.hp1 HG02809.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0193	5	360	0.0139	28	c.332 others(45): Show c.332-1994_332-1993insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	6/12			chr21	TogoVar
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19007.hp1 NA19054.hp1 NA18991.hp2 NA19007.hp1 NA19054.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0065 a0002c0002t0002g0070 a0003c0003t0003g0047 a0002c0002t0002g0065 a0002c0002t0002g0070 a0003c0003t0003g0047	3	318	0.0094	28	c.17- others(43): Show c.17-1769_17-1768insTATATATATATATATATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG1_chrX_152722484_152738721	152730009	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00673.hp1 others(17): Show HG00544.hp2 HG00597.hp1 HG00673.hp1 HG01099.hp1 HG02074.hp1 HG02280.hp1 HG02698.hp1 HG03490.hp1 HG03942.hp1 NA18939.hp2 NA18960.hp1 NA18987.hp1 NA18987.hp2 NA19000.hp1 NA19010.hp2 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0028 a0002c0002t0002g0037 others(3): Show a0002c0002t0002g0004 a0002c0002t0002g0028 a0002c0002t0002g0037 a0002c0002t0002g0042 a0002c0002t0002g0054 a0002c0002t0002g0056	20	318	0.0629	28	c.17- others(43): Show c.17-1786_17-1785insGTATATATATATATATATATATATATAT	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02895.hp2 others(10): Show HG01069.hp2 HG01071.hp1 HG02895.hp2 HG02976.hp2 NA18906.hp1 NA18939.hp1 NA18948.hp2 NA18975.hp2 NA18979.hp2 NA18989.hp1 NA19005.hp2 NA19081.hp2 NA19088.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0003c0007 a0004c0009 a0008c0016	a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 others(8): Show a0001c0001t0004 a0001c0001t0017 a0001c0002t0001 a0001c0002t0016 a0001c0004t0010 a0001c0005t0004 a0002c0003t0001 a0003c0007t0003 a0004c0009t0004 a0004c0009t0008 a0008c0016t0004	a0001c0001t0004g0302 a0001c0001t0017g0292 a0001c0002t0001g0293 others(10): Show a0001c0001t0004g0302 a0001c0001t0017g0292 a0001c0002t0001g0293 a0001c0002t0016g0171 a0001c0004t0010g0220 a0001c0005t0004g0214 a0001c0005t0004g0252 a0002c0003t0001g0363 a0003c0007t0003g0253 a0003c0007t0003g0295 a0004c0009t0004g0188 a0004c0009t0008g0203 a0008c0016t0004g0294	13	406	0.0320	28	c.49+ others(43): Show c.49+2008_49+2035dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02083.hp2 HG02523.hp2 HG02056.hp2 HG02083.hp2 HG02523.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0001 a0001c0005t0001 a0002c0003t0001	a0001c0005t0001g0309 a0002c0003t0001g0263 a0002c0003t0001g0346 a0001c0005t0001g0309 a0002c0003t0001g0263 a0002c0003t0001g0346	3	406	0.0074	28	c.49+ others(43): Show c.49+2035_49+2036insCTTTCTTTCTCTCTTTCTTTCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18963.hp2 NA19001.hp1 HG02257.hp1 NA18963.hp2 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0326 a0001c0005t0001g0250 a0001c0005t0001g0280 a0001c0002t0001g0326 a0001c0005t0001g0250 a0001c0005t0001g0280	3	406	0.0074	28	c.49+ others(43): Show c.49+1988_49+1989insCTTCTTTCTTTCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18964.hp1 HG01891.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0319 a0002c0003t0003g0320 a0001c0002t0001g0319 a0002c0003t0003g0320	2	406	0.0049	28	c.49+ others(43): Show c.49+1988_49+1989insCTTCCTTCTTTCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0269 a0001c0004t0015g0269	1	406	0.0025	28	c.49+ others(43): Show c.49+1988_49+1989insCTTCCTTCCTTCTTTCTTTCTTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01515.hp2 HG03834.hp2 HG01258.hp2 HG01515.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0007 a0002c0003 a0001c0002 a0001c0007 a0002c0003	a0001c0002t0022 a0001c0007t0031 a0002c0003t0003 a0001c0002t0022 a0001c0007t0031 a0002c0003t0003	a0001c0002t0022g0169 a0001c0007t0031g0029 a0002c0003t0003g0127 a0001c0002t0022g0169 a0001c0007t0031g0029 a0002c0003t0003g0127	3	238	0.0126	28	c.122 others(45): Show c.1228-283_1228-256dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0079 a0001c0002t0022g0079	1	238	0.0042	28	c.-29 others(47): Show c.-296-7307_-296-7306insTATATATATATATATATATAGAGAGA GA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0103 a0001c0002t0002g0103	1	238	0.0042	28	c.-29 others(47): Show c.-296-8373_-296-8346dupTATATATATATATATATATATATATA TA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01258.hp2 HG02055.hp1 others(7): Show HG00408.hp1 HG01258.hp2 HG02055.hp1 HG02109.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG03540.hp2 HG06807.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0002c0012	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(6): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0044 a0001c0007t0031 a0002c0003t0003 a0002c0003t0005 a0002c0012t0021	a0001c0001t0002g0213 a0001c0002t0001g0115 a0001c0002t0002g0164 others(7): Show a0001c0001t0002g0213 a0001c0002t0001g0115 a0001c0002t0002g0164 a0001c0002t0006g0045 a0001c0002t0044g0186 a0001c0007t0031g0029 a0002c0003t0003g0109 a0002c0003t0005g0043 a0002c0003t0005g0190 a0002c0012t0021g0174	10	238	0.0420	28	c.-29 others(49): Show c.-296-47491_-296-47490insATATATATATATATATATATATAT ATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0109 a0002c0003t0003g0109	1	238	0.0042	28	c.-39 others(49): Show c.-391-64945_-391-64944insCTCTCTCTTTCTTTCTTTCTTTCT TTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	238	0.0042	28	c.-39 others(49): Show c.-391-64945_-391-64944insCTCTCTCTCTCTTTCTTTCTTTCT TTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667012	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0203 a0002c0003t0003g0203	1	238	0.0042	28	c.-39 others(49): Show c.-391-65148_-391-65147insCCTTCCTTCCTTCCTTCCTTCCTT CCTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSH1_chr17_63889918_63901574	63898087	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG00642.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	28	c.-15 others(39): Show c.-1577_-1576insAGAAAGAAAGAAAGAAAGAAAGAAAGAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1514		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	428	0.0023	28	c.-16 others(39): Show c.-1662_-1661insAAGAAAGAAAGAAAGAAAGAGAGAGAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	394	0.0025	28	c.-66 others(45): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTGTGTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01515.hp2 others(1): Show HG00323.hp2 HG01070.hp1 HG01515.hp2 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0035 a0001c0001t0001g0082 a0001c0001t0001g0083	4	394	0.0102	28	c.-66 others(45): Show c.-66+3294_-66+3295insTTTTTTTTTTTTTTTTGTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	3022276	G G	GAGCATCC others(21): Show GAGCATCCGGAATGCACCCGCAATCCCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01934.hp1 HG01934.hp2 others(38): Show HG01884.hp1 HG01934.hp1 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp2 NA18522.hp1 NA18906.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA19060.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0014 a0017 a0026 a0027 a0029 a0030 a0031 a0038 a0039	a0001c0001 a0001c0002 a0001c0003 others(36): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0021 a0001c0026 a0001c0039 a0001c0040 a0001c0045 a0001c0046 a0001c0071 a0001c0080 a0001c0103 a0001c0105 a0001c0111 a0002c0036 a0002c0053 a0002c0074 a0002c0075 a0003c0034 a0003c0057 a0004c0099 a0006c0083 a0007c0088 a0008c0067 a0009c0113 a0010c0112 a0014c0010 a0017c0106 a0026c0082 a0027c0023 a0029c0028 a0030c0052 a0031c0069 a0038c0066 a0039c0009	a0001c0001t0039 a0001c0002t0028 a0001c0003t0013 others(38): Show a0001c0001t0039 a0001c0002t0028 a0001c0003t0013 a0001c0003t0019 a0001c0004t0020 a0001c0004t0063 a0001c0005t0002 a0001c0006t0060 a0001c0007t0001 a0001c0021t0005 a0001c0026t0006 a0001c0039t0066 a0001c0040t0019 a0001c0045t0012 a0001c0046t0073 a0001c0071t0069 a0001c0080t0040 a0001c0103t0033 a0001c0105t0001 a0001c0111t0045 a0002c0036t0029 a0002c0053t0022 a0002c0074t0041 a0002c0075t0026 a0003c0034t0030 a0003c0057t0080 a0004c0099t0014 a0006c0083t0004 a0007c0088t0076 a0008c0067t0059 a0009c0113t0011 a0010c0112t0081 a0014c0010t0070 a0017c0106t0012 a0026c0082t0052 a0027c0023t0001 a0029c0028t0024 a0030c0052t0049 a0031c0069t0043 a0038c0066t0010 a0039c0009t0001	a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0003t0013g0026 others(38): Show a0001c0001t0039g0017 a0001c0002t0028g0005 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0021t0005g0012 a0001c0026t0006g0093 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0071t0069g0115 a0001c0080t0040g0025 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0111t0045g0063 a0002c0036t0029g0009 a0002c0053t0022g0041 a0002c0074t0041g0031 a0002c0075t0026g0051 a0003c0034t0030g0038 a0003c0057t0080g0075 a0004c0099t0014g0020 a0006c0083t0004g0006 a0007c0088t0076g0057 a0008c0067t0059g0079 a0009c0113t0011g0043 a0010c0112t0081g0090 a0014c0010t0070g0084 a0017c0106t0012g0042 a0026c0082t0052g0097 a0027c0023t0001g0052 a0029c0028t0024g0040 a0030c0052t0049g0098 a0031c0069t0043g0100 a0038c0066t0010g0032 a0039c0009t0001g0002	41	126	0.3254	28	c.785 others(47): Show c.7856-3654_7856-3627dupGTGGGATTGCGGGTGCATTCCGGATG CT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3022390	G G	GCATCCGG others(21): Show GCATCCGGAATGCACCCGCAATCCCACAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19043.hp2 HG01261.hp2 NA19043.hp2	a0001 a0016 a0001 a0016	a0001c0050 a0016c0063 a0001c0050 a0016c0063	a0001c0050t0053 a0016c0063t0010 a0001c0050t0053 a0016c0063t0010	a0001c0050t0053g0120 a0016c0063t0010g0045 a0001c0050t0053g0120 a0016c0063t0010g0045	2	126	0.0159	28	c.785 others(47): Show c.7856-3741_7856-3740insTTGTGGGATTGCGGGTGCATTCCGGA TG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	51/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3127898	T T	TGAAGGAA others(21): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02922.hp2 HG03195.hp1 HG02055.hp1 HG02922.hp2 HG03195.hp1	a0002 a0006 a0031 a0002 a0006 a0031	a0002c0054 a0006c0083 a0031c0069 a0002c0054 a0006c0083 a0031c0069	a0002c0054t0079 a0006c0083t0004 a0031c0069t0043 a0002c0054t0079 a0006c0083t0004 a0031c0069t0043	a0002c0054t0079g0096 a0006c0083t0004g0006 a0031c0069t0043g0100 a0002c0054t0079g0096 a0006c0083t0004g0006 a0031c0069t0043g0100	3	126	0.0238	28	c.624 others(47): Show c.6242-9339_6242-9312dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	41/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18983.hp2 HG02056.hp2 NA18983.hp2	a0001 a0001	a0001c0071 a0001c0105 a0001c0071 a0001c0105	a0001c0071t0069 a0001c0105t0001 a0001c0071t0069 a0001c0105t0001	a0001c0071t0069g0115 a0001c0105t0001g0029 a0001c0071t0069g0115 a0001c0105t0001g0029	2	126	0.0159	28	c.591 others(47): Show c.5914+2537_5914+2538insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(21): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG02683.hp2 HG01255.hp2 HG01261.hp1 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0049 a0001c0108 a0002c0037 a0001c0049 a0001c0108 a0002c0037	a0001c0049t0002 a0001c0108t0054 a0002c0037t0009 a0001c0049t0002 a0001c0108t0054 a0002c0037t0009	a0001c0049t0002g0071 a0001c0108t0054g0074 a0002c0037t0009g0046 a0001c0049t0002g0071 a0001c0108t0054g0074 a0002c0037t0009g0046	3	126	0.0238	28	c.562 others(47): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC CC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04204.hp2 HG01243.hp2 HG04204.hp2	a0001 a0035 a0001 a0035	a0001c0001 a0035c0098 a0001c0001 a0035c0098	a0001c0001t0002 a0035c0098t0025 a0001c0001t0002 a0035c0098t0025	a0001c0001t0002g0102 a0035c0098t0025g0019 a0001c0001t0002g0102 a0035c0098t0025g0019	2	126	0.0159	28	c.562 others(47): Show c.5621-1655_5621-1628dupACACACACACACACACACACACACAC AC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3354875	A A	ATATCTAT others(21): Show ATATCTATAGATATCTATATCTATAGATC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02055.hp1 HG02056.hp1 others(22): Show HG00438.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03579.hp2 HG03669.hp1 NA18522.hp2 NA18979.hp1 NA18995.hp1 NA18995.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0007 a0010 a0020 a0024 a0030 a0031 a0033 a0039	a0001c0002 a0001c0006 a0001c0071 others(20): Show a0001c0002 a0001c0006 a0001c0071 a0001c0079 a0001c0081 a0001c0103 a0001c0109 a0002c0036 a0002c0054 a0002c0070 a0002c0072 a0002c0074 a0002c0075 a0003c0034 a0006c0083 a0007c0088 a0010c0112 a0020c0024 a0024c0038 a0030c0052 a0031c0069 a0033c0042 a0039c0009	a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 others(22): Show a0001c0002t0002 a0001c0002t0028 a0001c0002t0061 a0001c0006t0002 a0001c0071t0069 a0001c0079t0072 a0001c0081t0037 a0001c0103t0033 a0001c0109t0038 a0002c0036t0029 a0002c0054t0079 a0002c0070t0046 a0002c0072t0003 a0002c0074t0041 a0002c0075t0026 a0003c0034t0030 a0006c0083t0004 a0007c0088t0076 a0010c0112t0081 a0020c0024t0077 a0024c0038t0075 a0030c0052t0049 a0031c0069t0043 a0033c0042t0004 a0039c0009t0001	a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 others(22): Show a0001c0002t0002g0083 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0006t0002g0109 a0001c0071t0069g0115 a0001c0079t0072g0113 a0001c0081t0037g0030 a0001c0103t0033g0028 a0001c0109t0038g0013 a0002c0036t0029g0009 a0002c0054t0079g0096 a0002c0070t0046g0092 a0002c0072t0003g0066 a0002c0074t0041g0031 a0002c0075t0026g0051 a0003c0034t0030g0038 a0006c0083t0004g0006 a0007c0088t0076g0057 a0010c0112t0081g0090 a0020c0024t0077g0104 a0024c0038t0075g0067 a0030c0052t0049g0098 a0031c0069t0043g0100 a0033c0042t0004g0004 a0039c0009t0001g0002	25	126	0.1984	28	c.330 others(47): Show c.3304+4276_3304+4277insGATCTATAGATATAGATATCTATAGA TA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	21/69			chr8	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)