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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⚠️ 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
CENPJ_chr13_24877279_24927861	24882090	A A	ATAGATAT others(103): Show ATAGATATATAGATACATCTATATAGATATATAGATACATCTATATAGAT ACATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTAT ATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG03239.hp1 HG01167.hp2 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0001 a0001c0002t0007	a0001c0002t0001g0257 a0001c0002t0007g0232 a0001c0002t0001g0257 a0001c0002t0007g0232	2	440	0.0046	110	c.10 others(121): Show c.1086_*1087insGATGTATCTATATAGATGTATCTATATAGATGTA TCTATATAGATGTATCTATATAGATGTATCTATATAGATGTATCTATATA TCTATATAGATGTATCTATATATCTA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		188		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882133	G G	GATATATA others(103): Show GATATATAATCTATATAGATACATCTATATAGATATATAATCTATATAGC TATATAGATACATCTATATAGCTATATAGATACATCTATATAGATACATC TATATAGATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0121 a0002c0003t0003g0121	1	440	0.0023	110	c.10 others(121): Show c.1043_*1044insATATCTATATAGATGTATCTATATAGATGTATCT ATATAGCTATATAGATGTATCTATATAGCTATATAGATTATATATCTATA TAGATGTATCTATATAGATTATATAT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		145		chr13	TogoVar
CENPQ_chr6_49458370_49498107	49487172	A A	AAAAAAAA others(103): Show AAAAAAAAAAAAAAAGATGGTCCTGAGTTGATAATTGAAACTGGCCAATA TGTATATGGGTGTTCATGATAACATTCTCTCTTACTGTATGTGTTTGAAA TTTACTATAAT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	362	0.0028	110	c.478 others(127): Show c.478-1174_478-1173insAAAAAAAAGATGGTCCTGAGTTGATAAT TGAAACTGGCCAATATGTATATGGGTGTTCATGATAACATTCTCTCTTAC TGTATGTGTTTGAAATTTACTATAATAAAAAA	CENPQ	ENSG00000031691.7	transcript	ENST00000335783.4	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
CFAP276_chr1_109100951_109117747	109113390	C C	CAGAGAGA others(103): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGACCCTGTCAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	404	0.0025	110	c.-71 others(119): Show c.-712_-711insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTGACAGGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCT	CFAP276	ENSG00000179902.13	transcript	ENST00000369948.8	protein_coding		644		chr1	TogoVar
CFAP299_chr4_80330730_80968750	80390580	T T	TATATGTA others(103): Show TATATGTATATATGTATATATGTATACACACATATATGTATATATGTATA CACACATATATGTATATATGTATACACACATATATGTATATATGTATATA TGTATACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0015 a0001c0009t0002g0015	1	96	0.0104	110	c.242 others(129): Show c.242+27730_242+27731insATGTATATATGTATACACACATATAT GTATATATGTATACACACATATATGTATATATGTATATATGTATACACAC ATATGTATATATGTATATATGTATACACACATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80390756	C C	CATATGTA others(103): Show CATATGTATATATGTATATATGTATATATACACACATATGTATATATGTA TATATACATATACACATATATGTATATGTATATATGTATATATACATATA CACATATATGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18906.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	96	0.0208	110	c.242 others(129): Show c.242+27892_242+27893insGTATATATACACACATATGTATATAT GTATATATACATATACACATATATGTATATGTATATATGTATATATACAT ATACACATATATGTATATGTATATATGTATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP46_chr10_132803392_132947570	132858249	A A	AGTGGGCA others(103): Show AGTGGGCAGGGCCAGGGAGGCTTTGCTGGGGGCGGCCCCAGGTTGGAGGC AGGGCGGTGGGCGGGGCCAGGGAGGCTTTGCTGGGGGCGGCCCCAGGTTG GAGGCAGGGCG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	246	0.0041	110	c.537 others(127): Show c.5376-462_5376-461insCGCCCTGCCTCCAACCTGGGGCCGCCCC CAGCAAAGCCTCCCTGGCCCCGCCCACCGCCCTGCCTCCAACCTGGGGCC GCCCCCAGCAAAGCCTCCCTGGCCCTGCCCAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	38/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132858281	C C	CGGCCCCA others(103): Show CGGCCCCAGGTTGGAGGCAGGGCGGTGGGCGGGGTCAGGGAGGCATTGCT GGGGGTTGCCCCAGGTTGGGGGCAGGGCGGTGGGCGGGGCCAGGGAGGCT TTGCTGGGGGT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	246	0.0041	110	c.537 others(127): Show c.5376-494_5376-493insACCCCCAGCAAAGCCTCCCTGGCCCCGC CCACCGCCCTGCCCCCAACCTGGGGCAACCCCCAGCAATGCCTCCCTGAC CCCGCCCACCGCCCTGCCTCCAACCTGGGGCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	38/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132858281	C C	CGGCCCCA others(103): Show CGGCCCCAGGTTGGAGGCAGGGCGGTGGGCGGGGTCAGGGAGGCATTGCT GGGGGTTGCCCCAGGTTGGGGGCAGGGCGGTGGGCGGGGCCATGGAGGCT TTGCTGGGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(68): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00738.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02683.hp1 HG02698.hp2 HG02809.hp2 HG03017.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18950.hp2 NA18953.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19090.hp2 NA20905.hp1	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0010 a0016 a0025 a0030 a0031 a0036 a0040 a0042 a0047 a0052	a0002c0002 a0002c0003 a0002c0023 others(20): Show a0002c0002 a0002c0003 a0002c0023 a0002c0045 a0002c0054 a0003c0007 a0003c0012 a0003c0080 a0004c0019 a0004c0038 a0004c0052 a0010c0011 a0010c0072 a0016c0031 a0016c0095 a0025c0033 a0030c0066 a0031c0065 a0036c0051 a0040c0050 a0042c0053 a0047c0035 a0052c0067	a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 others(21): Show a0002c0002t0001 a0002c0003t0001 a0002c0023t0001 a0002c0045t0001 a0002c0054t0001 a0003c0007t0002 a0003c0012t0002 a0003c0080t0002 a0004c0019t0001 a0004c0038t0001 a0004c0052t0001 a0010c0011t0001 a0010c0072t0002 a0016c0031t0002 a0016c0095t0002 a0025c0033t0001 a0025c0033t0003 a0030c0066t0001 a0031c0065t0001 a0036c0051t0001 a0040c0050t0001 a0042c0053t0001 a0047c0035t0001 a0052c0067t0002	a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0163 others(67): Show a0002c0002t0001g0141 a0002c0002t0001g0159 a0002c0002t0001g0163 a0002c0002t0001g0175 a0002c0002t0001g0177 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0215 a0002c0002t0001g0229 a0002c0003t0001g0128 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0145 a0002c0003t0001g0162 a0002c0003t0001g0181 a0002c0003t0001g0192 a0002c0003t0001g0196 a0002c0023t0001g0151 a0002c0023t0001g0204 a0002c0045t0001g0200 a0002c0054t0001g0164 a0003c0007t0002g0057 a0003c0007t0002g0058 a0003c0007t0002g0059 a0003c0007t0002g0060 a0003c0007t0002g0062 a0003c0012t0002g0001 a0003c0012t0002g0055 a0003c0012t0002g0087 a0003c0080t0002g0074 a0004c0019t0001g0179 a0004c0019t0001g0233 a0004c0038t0001g0146 a0004c0052t0001g0188 a0010c0011t0001g0130 a0010c0011t0001g0240 a0010c0011t0001g0241 a0010c0011t0001g0242 a0010c0072t0002g0004 a0016c0031t0002g0030 a0016c0031t0002g0072 a0016c0095t0002g0114 a0025c0033t0001g0238 a0025c0033t0003g0237 a0030c0066t0001g0231 a0031c0065t0001g0232 a0036c0051t0001g0180 a0040c0050t0001g0178 a0042c0053t0001g0191 a0047c0035t0001g0161 a0052c0067t0002g0013	71	246	0.2886	110	c.537 others(127): Show c.5376-494_5376-493insACCCCCAGCAAAGCCTCCATGGCCCCGC CCACCGCCCTGCCCCCAACCTGGGGCAACCCCCAGCAATGCCTCCCTGAC CCCGCCCACCGCCCTGCCTCCAACCTGGGGCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	38/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132858282	G G	GGCCCCAG others(103): Show GGCCCCAGGTTGGCGGCAGGGAGGTGGGCGGGGCCAGGGAGGCTTTGCTG GGGGCGGCCCCAGGTTGGAGGCAGGGCGGTGGGCGGGGTCAGGGAGGCAT TGCTGGGGGTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0009 a0009	a0009c0043 a0009c0043	a0009c0043t0001 a0009c0043t0001	a0009c0043t0001g0155 a0009c0043t0001g0155	1	246	0.0041	110	c.537 others(127): Show c.5376-495_5376-494insAACCCCCAGCAATGCCTCCCTGACCCCG CCCACCGCCCTGCCTCCAACCTGGGGCCGCCCCCAGCAAAGCCTCCCTGG CCCCGCCCACCTCCCTGCCGCCAACCTGGGGC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	38/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132858303	A A	AGGTGGGC others(103): Show AGGTGGGCGGGGCCAGGGAGGCTTTGCTGGGGGCGGCCCCAGGTTGGAGG CAGGGCGGTGGGCGGGGCCAGGGAGGCATTGCTGGGGGTTGCCCCAGGTT GGGGGCAGGGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0110 a0006c0004t0002g0110	1	246	0.0041	110	c.537 others(127): Show c.5376-516_5376-515insGCCCTGCCCCCAACCTGGGGCAACCCCC AGCAATGCCTCCCTGGCCCCGCCCACCGCCCTGCCTCCAACCTGGGGCCG CCCCCAGCAAAGCCTCCCTGGCCCCGCCCACC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	38/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132858303	A A	AGGTGGGC others(103): Show AGGTGGGCGGGGCCAGGGAGGCTTTGCTGGGGGCGGCCCCAGGTTGGAGG CAGGGCGGTGGGCGGGGTCAGGGAGGCATTGCTGGGGGTTGCCCCAGGTT GGGGGCAGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(64): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01257.hp2 HG01346.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18940.hp2 NA18945.hp1 NA18960.hp2 NA18980.hp1 NA19004.hp2 NA20300.hp1 NA20905.hp2	a0004 a0005 a0006 others(30): Show a0004 a0005 a0006 a0008 a0009 a0011 a0012 a0013 a0018 a0019 a0020 a0023 a0024 a0028 a0029 a0032 a0033 a0035 a0037 a0038 a0039 a0041 a0045 a0046 a0048 a0050 a0051 a0061 a0062 a0064 a0065 a0066 a0071	a0004c0005 a0005c0013 a0006c0004 others(36): Show a0004c0005 a0005c0013 a0006c0004 a0008c0009 a0008c0097 a0009c0018 a0009c0021 a0011c0010 a0012c0025 a0013c0022 a0013c0061 a0018c0024 a0019c0020 a0020c0017 a0023c0058 a0023c0062 a0024c0036 a0024c0060 a0028c0027 a0029c0099 a0029c0100 a0032c0063 a0033c0048 a0035c0057 a0037c0056 a0038c0037 a0039c0046 a0041c0049 a0045c0059 a0046c0064 a0048c0107 a0050c0104 a0051c0105 a0061c0092 a0062c0093 a0064c0101 a0065c0102 a0066c0077 a0071c0098	a0004c0005t0001 a0004c0005t0002 a0005c0013t0001 others(38): Show a0004c0005t0001 a0004c0005t0002 a0005c0013t0001 a0006c0004t0002 a0008c0009t0001 a0008c0009t0002 a0008c0097t0001 a0009c0018t0001 a0009c0021t0001 a0011c0010t0001 a0012c0025t0002 a0013c0022t0001 a0013c0061t0001 a0018c0024t0001 a0019c0020t0001 a0020c0017t0001 a0023c0058t0001 a0023c0062t0001 a0024c0036t0001 a0024c0060t0001 a0028c0027t0002 a0029c0099t0002 a0029c0100t0002 a0032c0063t0001 a0033c0048t0001 a0035c0057t0001 a0037c0056t0001 a0038c0037t0001 a0039c0046t0001 a0041c0049t0001 a0045c0059t0001 a0046c0064t0001 a0048c0107t0002 a0050c0104t0001 a0051c0105t0001 a0061c0092t0001 a0062c0093t0001 a0064c0101t0002 a0065c0102t0002 a0066c0077t0001 a0071c0098t0002	a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 others(64): Show a0004c0005t0001g0220 a0004c0005t0001g0221 a0004c0005t0001g0222 a0004c0005t0001g0223 a0004c0005t0001g0225 a0004c0005t0001g0226 a0004c0005t0001g0227 a0004c0005t0002g0016 a0005c0013t0001g0217 a0005c0013t0001g0218 a0005c0013t0001g0219 a0006c0004t0002g0106 a0006c0004t0002g0107 a0006c0004t0002g0108 a0006c0004t0002g0109 a0006c0004t0002g0113 a0008c0009t0001g0120 a0008c0009t0001g0122 a0008c0009t0001g0123 a0008c0009t0001g0124 a0008c0009t0002g0101 a0008c0097t0001g0118 a0009c0018t0001g0172 a0009c0018t0001g0228 a0009c0021t0001g0243 a0009c0021t0001g0244 a0011c0010t0001g0197 a0011c0010t0001g0198 a0011c0010t0001g0202 a0011c0010t0001g0208 a0012c0025t0002g0007 a0012c0025t0002g0014 a0013c0022t0001g0157 a0013c0022t0001g0158 a0013c0061t0001g0156 a0018c0024t0001g0211 a0018c0024t0001g0212 a0019c0020t0001g0149 a0019c0020t0001g0150 a0020c0017t0001g0147 a0020c0017t0001g0148 a0023c0058t0001g0154 a0023c0062t0001g0210 a0024c0036t0001g0169 a0024c0060t0001g0173 a0028c0027t0002g0028 a0028c0027t0002g0077 a0029c0099t0002g0017 a0029c0100t0002g0019 a0032c0063t0001g0213 a0033c0048t0001g0224 a0035c0057t0001g0234 a0037c0056t0001g0136 a0038c0037t0001g0230 a0039c0046t0001g0144 a0041c0049t0001g0176 a0045c0059t0001g0167 a0046c0064t0001g0214 a0048c0107t0002g0103 a0050c0104t0001g0236 a0051c0105t0001g0239 a0061c0092t0001g0125 a0062c0093t0001g0121 a0064c0101t0002g0022 a0065c0102t0002g0018 a0066c0077t0001g0127 a0071c0098t0002g0023	67	246	0.2724	110	c.537 others(127): Show c.5376-516_5376-515insGCCCTGCCCCCAACCTGGGGCAACCCCC AGCAATGCCTCCCTGACCCCGCCCACCGCCCTGCCTCCAACCTGGGGCCG CCCCCAGCAAAGCCTCCCTGGCCCCGCCCACC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	38/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132858303	A A	AGGTGGGC others(103): Show AGGTGGGCGGGGCCAGGGAGGCTTTGCTGGGGGCGGCCCCAGGTTGGAGG CAGGGTGGTGGGCGGGGTCAGGGAGGCATTGCTGGGGGTTGCCCCAGGTT GGGGGCAGGGC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0116 a0006c0004t0002g0116	1	246	0.0041	110	c.537 others(127): Show c.5376-516_5376-515insGCCCTGCCCCCAACCTGGGGCAACCCCC AGCAATGCCTCCCTGACCCCGCCCACCACCCTGCCTCCAACCTGGGGCCG CCCCCAGCAAAGCCTCCCTGGCCCCGCCCACC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	38/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132858350	A A	AGGCAGGG others(103): Show AGGCAGGGCGGTGGGCGGGGTCAGGGAGGCATTGCTGGGGGTTGCCCCAG GTTGGGGGCAGGGCGGTGGGCGGGGTCAGGGAGGCATTGCTGGGGGTTGC CCCAGGTTGGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0059 a0059	a0059c0082 a0059c0082	a0059c0082t0002 a0059c0082t0002	a0059c0082t0002g0100 a0059c0082t0002g0100	1	246	0.0041	110	c.537 others(127): Show c.5376-563_5376-562insCCCAACCTGGGGCAACCCCCAGCAATGC CTCCCTGACCCCGCCCACCGCCCTGCCCCCAACCTGGGGCAACCCCCAGC AATGCCTCCCTGACCCCGCCCACCGCCCTGCC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	38/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	36371645	T T	TATACACA others(103): Show TATACACATGTGTGTATATACACACGTATATACACATGTGTGTATATACA CACGTATATACACATGTGTGTATATACACACGTATATACACATATGTGTG TATATACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02897.hp2 HG01891.hp2 HG02895.hp1 HG02897.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196 a0010c0007t0001g0194 a0010c0007t0001g0195 a0010c0007t0001g0196	3	216	0.0139	110	c.918 others(129): Show c.9185+4518_9185+4519insATACACATGTGTGTATATACACACGT ATATACACATGTGTGTATATACACACGTATATACACATGTGTGTATATAC ACACGTATATACACATATGTGTGTATATACACAC	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63			chrX	TogoVar
CFAP47_chrX_35914734_36390317	36371920	A A	ATACACAC others(103): Show ATACACACATGTGTATATGTGTGTGTATATATACACACATGTGTATATGT GTGTGTATATATACACACATGTGTATGTGTGTGTATATATACACACATGT GTATATGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0026 a0026	a0026c0069 a0026c0069	a0026c0069t0001 a0026c0069t0001	a0026c0069t0001g0147 a0026c0069t0001g0147	1	216	0.0046	110	c.918 others(129): Show c.9185+4794_9185+4795insACACACATGTGTATATGTGTGTGTAT ATATACACACATGTGTATATGTGTGTGTATATATACACACATGTGTATGT GTGTGTATATATACACACATGTGTATATGTGTGT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(103): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0322 a0001c0004t0001g0322	1	352	0.0028	110	c.-12 others(127): Show c.-12+1974_-12+1975insGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHM_chrX_85856180_86052558	85911152	T T	TATATATG others(103): Show TATATATGTATATATATATATGAATATATATATATGAATATATATATGAA TATATATATGAATATATATATGAATATATATATGAATATATATATGAATA TATATATATGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02027.hp1 HG00609.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0165 a0001c0001t0010g0166 a0001c0001t0010g0165 a0001c0001t0010g0166	2	245	0.0082	110	c.124 others(127): Show c.1244+108_1244+109insTCATATATATATATTCATATATATATTC ATATATATATTCATATATATATTCATATATATATTCATATATATATTCAT ATATATATATTCATATATATATATACATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911164	T T	TATATATA others(103): Show TATATATATATGAATATATATATGAATATATATATGAATATATATATGAA TATATATATGAATATATATATGAATATATATATGAATATATATATATGAA TATATATATGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01993.hp1 HG01975.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0240 a0001c0001t0001g0242	2	245	0.0082	110	c.124 others(125): Show c.1244+96_1244+97insTCATATATATATTCATATATATATATTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATTCATAT ATATATTCATATATATATTCATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29273353	A A	ATATATAT others(103): Show ATATATATATATATATATATATATATATATATATGTGTGTATATATATAT ATATATATATATATATATATATATATGTGTATATATATATATATATATAT ATATATATGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	232	0.0043	110	c.49+ others(127): Show c.49+78396_49+78397insGTGTGTATATATATATATATATATATAT ATATATATATATATGTGTATATATATATATATATATATATATATATGTGT ATATATATATATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(103): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0099 a0001c0001t0041g0099	1	454	0.0022	110	c.21 others(119): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLEC2B_chr12_9847369_9874354	9853083	A A	AAGAAAGA others(103): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA GAAAGAAAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0166 a0001c0001t0048g0166	1	454	0.0022	110	c.21 others(119): Show c.216_*217insCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT	CLEC2B	ENSG00000110852.5	transcript	ENST00000228438.3	protein_coding	5/5	216		chr12	TogoVar
CLIC5_chr6_45893456_46020860	45904647	C C	CCTCCCTC others(103): Show CCTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCC TCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCTTCCCTCCCTCCTTCTCTC CTTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0013 a0001c0001t0041g0013	1	340	0.0029	110	c.589 others(127): Show c.589-1393_589-1392insAAGGAGGGAAGGAGAGAAGGAGGGAGGG AAGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAAGGAGAGAG GGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAG	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	5/5			chr6	TogoVar
CMTM4_chr16_66609750_66701743	66633104	T T	TATATATA others(103): Show TATATATATATAAATATATATATATAAATATATATATATAAATATATATA TATAAATATATATATATAAATATATATATATAAATATATATATATAAATA TATATATATAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	320	0.0031	110	c.363 others(127): Show c.363+3300_363+3301insTTATATATATATATTTATATATATATAT TTATATATATATATTTATATATATATATTTATATATATATATTTATATAT ATATATTTATATATATATATTTATATATATAT	CMTM4	ENSG00000183723.13	transcript	ENST00000394106.7	protein_coding	2/3			chr16	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(103): Show GTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATGTTTTTTTTTTTTT GAGACAGAGTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	152	0.0066	110	c.432 others(129): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTATATATAC ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATGTTTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(103): Show GTGTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATGTTTTTTTTTTTTT GAGACAGAGTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0144 a0005c0007t0002g0144	1	152	0.0066	110	c.432 others(129): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTGTATATAT ACATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATGTTTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87156273	G G	GTGTGTGT others(103): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATACATATATATATATATATAT ATATATATATATATATATATATATATATATATATATGTTTTTTTTTTTTT GAGACAGAGTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01106.hp1 NA18939.hp1 HG01070.hp2 HG01106.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0141 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0141	3	152	0.0197	110	c.432 others(129): Show c.432-49719_432-49718insGTGTGTGTGTGTGTGTGTGTGTATAT ATACATATATATATATATATATATATATATATATATATATATATATATAT ATATATATGTTTTTTTTTTTTTGAGACAGAGTTT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNN2_chr19_1021608_1044065	1033898	G G	GACACGGC others(103): Show GACACGGCGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGCGTCTGG TGTAGACCGGGAGCGTGGGTGGGACACGGCGTCTGGTGTAGACGGGGAGC GTGGGTGGGAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0177 a0001c0003t0003g0177	1	390	0.0026	110	c.390 others(127): Show c.390+1204_390+1205insACGGCGTCTGGTGTAGACCGGGAGCGTG GGTGGGACACGGCGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGCG TCTGGTGTAGACGGGGAGCGTGGGTGGGACAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034916	G G	GACACGGC others(103): Show GACACGGCGTCTGGTGTAGACGGGGAGCGTGGGTGGGACACGGCGTCTGG TGTAGACGGGGAGCGTGGGTGGGACACGGCGTCTGGTGTAGACGGGGAGC GTGGGTGGGAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0185 a0001c0003t0003g0185	1	390	0.0026	110	c.391 others(127): Show c.391-1212_391-1211insACGGCGTCTGGTGTAGACGGGGAGCGTG GGTGGGACACGGCGTCTGGTGTAGACGGGGAGCGTGGGTGGGACACGGCG TCTGGTGTAGACGGGGAGCGTGGGTGGGACAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034986	G G	GACACGGT others(103): Show GACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACACGGTGTCTGG TGTAGACGGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGC GTGGGTGGGAC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03669.hp2 HG01975.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0224 a0001c0002t0004g0236 a0001c0002t0004g0224 a0001c0002t0004g0236	2	390	0.0051	110	c.391 others(127): Show c.391-1142_391-1141insACGGTGTCTGGTGTAGACGGGGAGCGTG GGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACACGGTG TCTGGTGTAGACGGGGAGCGTGGGTGGGACAC	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNR2_chr1_23865515_23918362	23899857	G G	GAAGAAAG others(103): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0036 a0002c0002t0002g0036	1	268	0.0037	110	c.-46 others(129): Show c.-46+13388_-46+13389insTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899921	G G	GGAAGGAA others(103): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGG AAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAA AAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	268	0.0037	110	c.-46 others(129): Show c.-46+13324_-46+13325insTTTCTTTCTTTTTTTTCTTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCCTTCTTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899921	G G	GGAAGGAA others(103): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAA AAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	268	0.0037	110	c.-46 others(129): Show c.-46+13324_-46+13325insTTTCTTTCTTTTTTTTCTTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899921	G G	GGAAGGAA others(103): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAA AAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0253 a0001c0001t0005g0253	1	268	0.0037	110	c.-46 others(129): Show c.-46+13324_-46+13325insTTTCTTTCTTTTTTTTCTTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNR2_chr1_23865515_23918362	23899921	G G	GGAAGGAA others(103): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAA AAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0251 a0001c0001t0005g0251	1	268	0.0037	110	c.-46 others(129): Show c.-46+13324_-46+13325insTTTCTTTCTTTTTTTTCTTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL18A1_chr21_45400165_45518720	45500695	T T	TGTGTGTG others(103): Show TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0003 a0002c0020t0003	a0002c0020t0003g0156 a0002c0020t0003g0156	1	292	0.0034	110	c.268 others(129): Show c.2683+3076_2683+3077insGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500695	T T	TGTGTTGG others(103): Show TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0089 a0001c0089	a0001c0089t0001 a0001c0089t0001	a0001c0089t0001g0119 a0001c0089t0001g0119	1	292	0.0034	110	c.268 others(129): Show c.2683+3038_2683+3039insTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500769	T T	TGTGTGTG others(103): Show TGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0003 a0006c0028t0003	a0006c0028t0003g0230 a0006c0028t0003g0230	1	292	0.0034	110	c.268 others(129): Show c.2683+3152_2683+3153insGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500769	T T	TGTGTGTT others(103): Show TGTGTGTTGGGGTGTGTAGTGTGGGGGGTGTGGTTTGGTGTGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0252 a0009c0016t0002g0252	1	292	0.0034	110	c.268 others(129): Show c.2683+3114_2683+3115insTGGGGTGTGTAGTGTGGGGGGTGTGG TTTGGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGT TGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69921481	T T	TATATATC others(103): Show TATATATCATATATATTCATATATTCATATATATTCATATATATCATATA TATTCATATATTCATATATATTCATATATATTCATATATTCATATATATT CATATATATTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03471.hp1 NA21309.hp2 HG02602.hp2 HG03471.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0022 a0002c0003t0011 a0002c0004t0016 a0001c0001t0022 a0002c0003t0011 a0002c0004t0016	a0001c0001t0022g0069 a0002c0003t0011g0115 a0002c0004t0016g0112 a0001c0001t0022g0069 a0002c0003t0011g0115 a0002c0004t0016g0112	3	182	0.0165	110	c.267 others(127): Show c.267-6422_267-6421insCATATATATTCATATATTCATATATATT CATATATATCATATATATTCATATATTCATATATATTCATATATATTCAT ATATTCATATATATTCATATATATTCATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A3_chr2_227159624_227319792	227202964	T T	TATATATA others(103): Show TATATATACATATATGTGTATATATGTGTATATATACATATATGTGTATA TATGTGTATATATACATATATGTGTATATATACATATATGTGTATATATG TGTATATATAC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0085 a0008c0009t0001g0085	1	344	0.0029	110	c.88- others(127): Show c.88-34998_88-34997insACATATATGTGTATATATGTGTATATAT ACATATATGTGTATATATGTGTATATATACATATATGTGTATATATACAT ATATGTGTATATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203074	T T	TATATATA others(103): Show TATATATACGTATATATACATATATGTGTATATATACATATATGTGTATA TATACGTATATATACATATATGTGTATATATACATATATGTGTATATATG TGTATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0006 a0006c0031t0006	a0006c0031t0006g0081 a0006c0031t0006g0081	1	344	0.0029	110	c.88- others(127): Show c.88-34888_88-34887insACGTATATATACATATATGTGTATATAT ACATATATGTGTATATATACGTATATATACATATATGTGTATATATACAT ATATGTGTATATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45988211	G G	GGGGACGG others(103): Show GGGGACGGCGGGGTCCAGATGGAGGGGACGGCGGGGTCCAGATGGAGGGG ACGGCGGGAGTCCAGATGGAGGGGACGGCAGGGACGGCGGGGTCCAGATG GAGGGGACGGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0018 a0018	a0018c0031 a0018c0031	a0018c0031t0013 a0018c0031t0013	a0018c0031t0013g0029 a0018c0031t0013g0029	1	128	0.0078	110	c.804 others(125): Show c.804+560_804+561insACGGCGGGGTCCAGATGGAGGGGACGGCGG GGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGACGGCAGGGA CGGCGGGGTCCAGATGGAGGGGACGGCGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(103): Show CTCCGTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCC CCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01993.hp1 HG01934.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0252 a0001c0001t0001g0228 a0001c0001t0001g0252	2	350	0.0057	110	c.510 others(129): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPED1_chr7_120983711_121302442	121117077	T T	TTATATAT others(103): Show TTATATATATATATATAAATATATATATATAAATATATATATATATAAAT ATATATATATAAATATATATATATATAAATATATATATATAAATATATAT ATATATAAATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp1 HG02976.hp2 NA18522.hp1	a0005 a0005	a0005c0011 a0005c0012 a0005c0011 a0005c0012	a0005c0011t0001 a0005c0012t0001 a0005c0011t0001 a0005c0012t0001	a0005c0011t0001g0052 a0005c0012t0001g0079 a0005c0011t0001g0052 a0005c0012t0001g0079	2	140	0.0143	110	c.919 others(127): Show c.919-7238_919-7237insAATATATATATATAAATATATATATATA TAAATATATATATATAAATATATATATATATAAATATATATATATAAATA TATATATATATAAATATATATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPXM2_chr10_123740639_123896807	123881225	A A	ACCCTCCC others(103): Show ACCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCT CCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	288	0.0035	110	c.305 others(125): Show c.305-917_305-916insAAGGGGAGGGGAGGGGAGGGGAGGGAAGGG GAGGGGAGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	1/13			chr10	TogoVar
CTBP1_chr4_1206445_1254130	1240290	G G	GGGGGGAC others(103): Show GGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTCGGAA CCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGT CGGAACCGCGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02717.hp2 HG03453.hp2 others(1): Show HG01243.hp1 HG02717.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0240 a0001c0001t0002g0242 others(1): Show a0001c0001t0002g0161 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243	4	422	0.0095	110	c.7+9 others(122): Show c.7+925_7+1034dupACGCGGTTCCGACGAGGGACCCGGTTCCCACTC ACCCAGCACCCGGGAGTCCCCCACGCGGTTCCGACGAGGGACCCGGTTCC CACTCACCCAGCACCCGGGAGTCCCCC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
CTCFL_chr20_57492166_57530140	57526226	G G	GCGCTGGG others(103): Show GCGCTGGGATACCTTGTGGGGGAATGGATAAGGAGGGGAGGGGGTCCTGC AGGGGGCGCTGGGATACCTTGTGGGGGAATGGATAAGGAGGGGAGGGGGT CCTGCAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG01884.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0010 a0001c0004t0006 a0001c0004t0010	a0001c0004t0006g0227 a0001c0004t0010g0226 a0001c0004t0006g0227 a0001c0004t0010g0226	2	424	0.0047	110	c.-12 others(121): Show c.-1211_-1210insTCCCCTGCAGGACCCCCTCCCCTCCTTATCCATT CCCCCACAAGGTATCCCAGCGCCCCCTGCAGGACCCCCTCCCCTCCTTAT CCATTCCCCCACAAGGTATCCCAGCG	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		1087		chr20	TogoVar
CUL4A_chr13_113204613_113272108	113232113	A A	ACCACCAT others(103): Show ACCACCATTACTGTCACCACTACCTGCCCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0023 a0002c0013t0001g0023	1	396	0.0025	110	c.513 others(127): Show c.513-1041_513-1040insTGCCCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCTGCCCACCATTACTGTCACCACTACC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(103): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCATTACTGTCACCACTACCCGCC CACCACCATTA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0077 a0002c0002t0001g0078	2	396	0.0051	110	c.513 others(127): Show c.513-1023_513-1022insTCACCACTACCTGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA TTACTGTCACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar

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Search Results (Total: 10000 hits)