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
ZNF732_chr4_265675_310474	299391	GTACACAT others(83): Show GTACACATATGTGTATATATATATACACATATATACACATATGTGTATAT ATATATATATACACATATGTGTATATATATATACACATATA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	326	0.0031	-90	c.4-3 others(103): Show c.4-3326_4-3237delTATATGTGTATATATATATACACATATGTGTA TATATATATATATACACATATGTGTATATATGTGTATATATATATACACA TATGTGTA	ZNF732	ENSG00000186777.13	transcript	ENST00000419098.6	protein_coding	1/3			chr4	TogoVar
ZNF750_chr17_82824434_82845022	82828120	CACACCCA others(83): Show CACACCCACACAGTTGAATGTGCATACACCCACAGACACACATGCACACC CGTACAATCGAATGCACACACCCGCAGATATGCACACGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	426	0.0024	-90	c.19 others(101): Show c.1932_*2021delCCACGTGTGCATATCTGCGGGTGTGTGCATTCGA TTGTACGGGTGTGCATGTGTGTCTGTGGGTGTATGCACATTCAACTGTGT GGGTGT	ZNF750	ENSG00000141579.7	transcript	ENST00000269394.4	protein_coding		1313		chr17	TogoVar
ZNF772_chr19_57464586_57482566	57482439	TCCCTCTC others(83): Show TCCCTCTCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCC CCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01109.hp1 HG02280.hp2 others(3): Show HG00597.hp1 HG01109.hp1 HG02280.hp2 HG02647.hp1 HG03130.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0001 a0003c0003t0002g0004 a0001c0001t0001g0001 a0003c0003t0002g0004	6	394	0.0152	-90	c.-52 others(101): Show c.-5220_-5131delGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGG AGAGGG	ZNF772	ENSG00000197128.13	transcript	ENST00000356584.8	protein_coding		4874		chr19	TogoVar
ZNF773_chr19_57494938_57513229	57495873	AAATGTGT others(83): Show AAATGTGTACATATTCCCTATCTTTACTGAGAGCCTAGCAAGCCATGGCA TTCCAGTAGTTTTGAGCACATTTAATACCCAGTTATTGGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	416	0.0024	-90	c.-42 others(101): Show c.-4207_-4118delAATGTGTACATATTCCCTATCTTTACTGAGAGCC TAGCAAGCCATGGCATTCCAGTAGTTTTGAGCACATTTAATACCCAGTTA TTGGTT	ZNF773	ENSG00000152439.13	transcript	ENST00000282292.9	protein_coding		4064		chr19	TogoVar
ZNF778_chr16_89212703_89242141	89241043	GGGGAGGA others(83): Show GGGGAGGAGAGCGAGGGACTTCCGGGGGGAAGGGAGGAGAGCGAGGGACT TCCGGGGGGAAGGGAGGAGAGCGAGGGACTTCCGGGGGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03139.hp2 HG03579.hp2 HG02976.hp2 HG03139.hp2 HG03579.hp2	a0001 a0002 a0023 a0001 a0002 a0023	a0001c0001 a0002c0003 a0023c0016 a0001c0001 a0002c0003 a0023c0016	a0001c0001t0008 a0002c0003t0082 a0023c0016t0150 a0001c0001t0008 a0002c0003t0082 a0023c0016t0150	a0001c0001t0008g0112 a0002c0003t0082g0226 a0023c0016t0150g0192 a0001c0001t0008g0112 a0002c0003t0082g0226 a0023c0016t0150g0192	3	434	0.0069	-90	c.12 others(103): Show c.12482_*12571delGGGAGGAGAGCGAGGGACTTCCGGGGGGAAGG GAGGAGAGCGAGGGACTTCCGGGGGGAAGGGAGGAGAGCGAGGGACTTCC GGGGGGAA	ZNF778	ENSG00000170100.14	transcript	ENST00000433976.7	protein_coding		3903		chr16	TogoVar
ABCA8_chr17_68862289_68960392	68920404	AAATTTTA others(82): Show AAATTTTAAAAAATAAAAAAATAAATACCTTATTGCTTAACAAAAAAAAA AAGAGTTGACAGATAGAAGCTGGAATGCCAAATAGCAACT	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	274	0.0037	-89	c.161 others(106): Show c.1612+889_1613-929delAGTTGCTATTTGGCATTCCAGCTTCTAT CTGTCAACTCTTTTTTTTTTTGTTAAGCAATAAGGTATTTATTTTTTTAT TTTTTAAAATT	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding	13/39			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289770	TGTCTCTG others(82): Show TGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00544.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0027 a0001c0002t0002g0095 a0001c0001t0001g0027 a0001c0002t0002g0095	2	295	0.0068	-89	c.37 others(100): Show c.3705_*3793delTCGGGGGACGGACACGGGACGGGGCAGAGACACG GGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGGGACGGAGCA GAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2620		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770921	GATATCAT others(82): Show GATATCATAAATAAAAATTTATATTTATATATCATAAATATATAAAAATT TATATTTATATATCATAAATATATAAAAATTTATATTTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	-89	c.-14 others(100): Show c.-1490_-1402delATAAATATAAATTTTTATATATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATTTAT GATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1361		chr3	TogoVar
ADAM8_chr10_133257423_133281868	133261971	AGGCGGGG others(82): Show AGGCGGGGCCGTTGCCAGGAGACGAGACGGAATGGGCGGGGCGCGGGCGG GGGCCGTTGCCGGGAGACGAGACGGAATGGGCGGGGCGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG02738.hp1 HG03654.hp2 HG01257.hp2 HG02738.hp1 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0043 a0001c0002t0003g0125 a0001c0002t0003g0043 a0001c0002t0003g0125	3	386	0.0078	-89	c.10 others(100): Show c.1096_*1184delCGCGCCCCGCCCATTCCGTCTCGTCTCCCGGCAA CGGCCCCCGCCCGCGCCCCGCCCATTCCGTCTCGTCTCCTGGCAACGGCC CCGCC	ADAM8	ENSG00000151651.16	transcript	ENST00000445355.8	protein_coding		451		chr10	TogoVar
ADAP1_chr7_892900_959680	911691	GGGGGTCC others(82): Show GGGGGTCCCACGGAGGGCCAGGAAGGGGGCGGGGGTCCCACGGAGGGCCA GGAAGGGGGCGGGGGTCCCACGGAGGGCCAGGAAGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	14	0.0714	-89	c.389 others(106): Show c.389-6608_389-6520delGCCCCCTTCCTGGCCCTCCGTGGGACCC CCGCCCCCTTCCTGGCCCTCCGTGGGACCCCCGCCCCCTTCCTGGCCCTC CGTGGGACCCC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADGRD1_chr12_130948907_131146469	131029991	TATGGTAA others(82): Show TATGGTAACATTCCCAGGCTCTGGGGTTAGGATGTGGACCCCTCTTATGG TGACATTTCCAGGCTCTGGGGTTAGGTTGTGGACCCGTCG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0214 a0001c0003t0029g0214	1	242	0.0041	-89	c.147 others(110): Show c.1473+15652_1473+15740delATGGTAACATTCCCAGGCTCTGGG GTTAGGATGTGGACCCCTCTTATGGTGACATTTCCAGGCTCTGGGGTTAG GTTGTGGACCCGTCG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24			chr12	TogoVar
AHRR_chr5_316714_443285	344577	CTGTGTGT others(82): Show CTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02293.hp1 HG00280.hp2 HG02293.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0004 a0002c0002t0001 a0003c0004t0004	a0002c0002t0001g0080 a0003c0004t0004g0081 a0002c0002t0001g0080 a0003c0004t0004g0081	2	268	0.0075	-89	c.62+ others(102): Show c.62+624_62+712delTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTG TGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANXA10_chr4_168087537_168192736	168155848	AATATATC others(82): Show AATATATCATATATGATATATCATATATTATATGTTATATATAATATATG ATATATCATATATTATATTATATATCATATATTATATGTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp2 others(95): Show HG00099.hp1 HG00140.hp1 HG00438.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18952.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp1 NA18988.hp1 NA18991.hp1 NA19001.hp1 NA19003.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19066.hp2 NA19068.hp1 NA19078.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0008t0001 a0001c0009t0001 a0001c0001t0001 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(93): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0001g0147 a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0008t0001g0247 a0001c0008t0001g0248 a0001c0009t0001g0207 a0001c0009t0001g0208	98	284	0.3451	-89	c.196 others(106): Show c.196-6673_196-6585delCATATATGATATATCATATATTATATGT TATATATAATATATGATATATCATATATTATATTATATATCATATATTAT ATGTTATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2_chr15_60342151_60402986	60366854	TCAGCCCC others(82): Show TCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG03516.hp2 others(1): Show HG02145.hp1 HG02970.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0095 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0095 a0001c0001t0001g0256	4	334	0.0120	-89	c.149 others(106): Show c.149-2420_149-2332delGGCAGAGGGGTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGG GCGGGGGGCTG	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ARHGEF10_chr8_1818926_1963641	1841881	GGGGCCGC others(82): Show GGGGCCGCGGCGGGAACTGGGGCCGCGGCGGGAACTGGGGCCGCGGCGGG AACTGGGGCCGCGACCGGAACTGGGGCCGCGACCGGAACT	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0325 a0001c0005t0001g0325	1	363	0.0028	-89	c.-47 others(106): Show c.-47-1468_-47-1380delCCGCGGCGGGAACTGGGGCCGCGGCGGG AACTGGGGCCGCGGCGGGAACTGGGGCCGCGACCGGAACTGGGGCCGCGA CCGGAACTGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1873519	CGCCCGCG others(82): Show CGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCG CGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03490.hp1 HG03492.hp2 HG01081.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0009 a0001c0016 a0001c0009 a0001c0016	a0001c0009t0023 a0001c0016t0004 a0001c0009t0023 a0001c0016t0004	a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0016t0004g0176 a0001c0009t0023g0046 a0001c0009t0023g0047 a0001c0016t0004g0176	3	363	0.0083	-89	c.680 others(106): Show c.680-2978_680-2890delAGTTGCCTTGAGAGGTGCCCGCGGGGTA GTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCAC CCGCATTTCCT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1888104	TGAGGAGA others(82): Show TGAGGAGACACTTAGTGGGGTGAGGGTTTGCGAGGAGACACTTAGTGGGG CGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTTGC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp1 HG03453.hp2 HG02451.hp1 HG02886.hp1 HG03453.hp2	a0001 a0001	a0001c0023 a0001c0102 a0001c0154 a0001c0023 a0001c0102 a0001c0154	a0001c0023t0010 a0001c0102t0010 a0001c0154t0009 a0001c0023t0010 a0001c0102t0010 a0001c0154t0009	a0001c0023t0010g0160 a0001c0102t0010g0162 a0001c0154t0009g0265 a0001c0023t0010g0160 a0001c0102t0010g0162 a0001c0154t0009g0265	3	363	0.0083	-89	c.118 others(108): Show c.1182+2417_1182+2505delTGAGGGTTTGCGAGGAGACACTTAGT GGGGCGAGGGTTGCGAGGAGACAGTGAGTGGGGTGAGGGTTTGCGAGGAG ACACTTAGTGGGG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1890130	GGAGTGGG others(82): Show GGAGTGGGGTGAGGGTTTGTGAGGAGACACTGAGTGGGGTGAGGGTTTGT GAGGAGACACTGAATAGGGTGAGGGTTGTGAAGAGACACT	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0256 a0001c0014t0002g0256	1	363	0.0028	-89	c.118 others(108): Show c.1183-3413_1183-3325delACACTGAGTGGGGTGAGGGTTTGTGA GGAGACACTGAATAGGGTGAGGGTTGTGAAGAGACACTGAGTGGGGTGAG GGTTTGTGAGGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1890156	ACACTGAG others(82): Show ACACTGAGTGGGGTGAGGGTTTGTGAGGAGACACTGAATAGGGTGAGGGT TGTGAAGAGACACTGAGTGGGGTGAGGGTTTGTGAGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0001 a0001c0085t0001	a0001c0085t0001g0231 a0001c0085t0001g0231	1	363	0.0028	-89	c.118 others(108): Show c.1183-3405_1183-3317delTGGGGTGAGGGTTTGTGAGGAGACAC TGAATAGGGTGAGGGTTGTGAAGAGACACTGAGTGGGGTGAGGGTTTGTG AGGAGGCACTGAG	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	11/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7354660	GAGGCCGC others(82): Show GAGGCCGCGGCAGGAGGATCGCTTGTGCCTGGGAGTTTTGAGACCAGCCT GGGCAACATAGTGAGACCCCAGCTCTACAAAAAATACAAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02602.hp2 HG01074.hp1 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0121 a0001c0002t0003g0151 a0001c0002t0003g0121 a0001c0002t0003g0151	2	298	0.0067	-89	c.-11 others(108): Show c.-111+5421_-111+5509delGGCCGCGGCAGGAGGATCGCTTGTGC CTGGGAGTTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCAGCTCTAC AAAAAATACAAAA	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATAD2_chr8_123314850_123401447	123314879	TGGGAGGG others(82): Show TGGGAGGGAGGTGGGGGGGTCAGCCCCCATAAGCGCTAACTTAAGTTAGC GCTTATGGGTCAGCCCCCCGCCCCACCAGCCACCCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG03098.hp1 others(3): Show HG02647.hp1 HG02922.hp2 HG03098.hp1 HG03453.hp1 NA18988.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0141 a0001c0001t0002g0142 others(3): Show a0001c0001t0002g0091 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0154	6	278	0.0216	-89	c.61 others(100): Show c.6166_*6254delGGACGGGGTGGCTGGTGGGGCGGGGGGCTGACCC ATAAGCGCTAACTTAAGTTAGCGCTTATGGGGGCTGACCCCCCCACCTCC CTCCC	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding		4970		chr8	TogoVar
ATAD2_chr8_123314850_123401447	123315926	CCCGCCCG others(82): Show CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC CGCCCGGCCAGCCCCCCCATCCGGGAGGTGAGGGGCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	278	0.0036	-89	c.51 others(100): Show c.5119_*5207delAGGCGCCCCTCACCTCCCGGATGGGGGGGCTGGC CGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGG	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding		3923		chr8	TogoVar
ATOX1_chr5_151737822_151763631	151762532	GTCCCAGC others(82): Show GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAG GTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	378	0.0027	-89	c.-40 others(100): Show c.-4070_-3982delTGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAC CTCCACCTCCGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGA	ATOX1	ENSG00000177556.12	transcript	ENST00000313115.11	protein_coding		3902		chr5	TogoVar
BAD_chr11_64264830_64289665	64271136	TCACACAC others(82): Show TCACACACACACACACACACACACACACCTGGAGTGGGATCTAGACTACA GATCCCAGCATGCCCTGTGACTCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	388	0.0026	-89	c.378 others(104): Show c.378+388_378+476delTGTGTGTGTGTGTGTGTGAGTCACAGGGCA TGCTGGGATCTGTAGTCTAGATCCCACTCCAGGTGTGTGTGTGTGTGTGT GTGTGTGTG	BAD	ENSG00000002330.14	transcript	ENST00000309032.8	protein_coding	3/3			chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816693	CATAGATG others(82): Show CATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTA TATATACACATAGATGTGTGTGTATATTATATATACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG06807.hp2 HG04204.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0011g0011 a0001c0001t0001g0002 a0001c0001t0011g0011	2	436	0.0046	-89	c.29 others(100): Show c.2922_*3010delATAGATGTGTGTGTATATTATATATACACATAGA TGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATA CACAT	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1109		chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816843	ATGTGTGT others(82): Show ATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATATAT ACACATAGATGTGTGTGTATATTATATATACACATAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18969.hp1 NA19083.hp2 NA18944.hp2 NA18969.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0079 a0001c0001t0080 a0001c0001t0031 a0001c0001t0079 a0001c0001t0080	a0001c0001t0031g0021 a0001c0001t0079g0021 a0001c0001t0080g0021 a0001c0001t0031g0021 a0001c0001t0079g0021 a0001c0001t0080g0021	3	436	0.0069	-89	c.30 others(100): Show c.3072_*3160delTGTGTGTGTATATTATATATACACATAGATGTGT GTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACACAT AGATG	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1259		chr1	TogoVar
BTBD2_chr19_1980448_2020714	2015888	AGGGAGGG others(82): Show AGGGAGGGGAAAGGAGGGGGAAGGAGGGAGGGGAGGAGAGGGAGGGGAAA GGAGGGGGAAGGAGGGAGGGGAGGAGAGGGAGGGGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0010 a0007c0015t0001g0010	1	364	0.0028	-89	c.-27 others(98): Show c.-274_-186delCCTTTCCCCTCCCTCTCCTCCCCTCCCTCCTTCCCC CTCCTTTCCCCTCCCTCTCCTCCCCTCCCTCCTTCCCCCTCCTTTCCCCT CCC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		175		chr19	TogoVar
C1QTNF12_chr1_1237453_1251722	1244745	CCCCTCCT others(82): Show CCCCTCCTCCCCCCACTCCTCATCCCACTCCTTCCCCCACTCATCTCCCT CCTCCCCCACTCCTCATCCCACTCCTTCCCCCACTCATCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00673.hp2 others(20): Show HG00323.hp2 HG00423.hp2 HG00673.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 NA18612.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19007.hp1 NA19011.hp1 NA19064.hp1 NA19068.hp2 NA19079.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0063 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0102 a0001c0001t0001g0109	23	328	0.0701	-89	c.178 others(104): Show c.178-337_178-249delAGATGAGTGGGGGAAGGAGTGGGATGAGGA GTGGGGGAGGAGGGAGATGAGTGGGGGAAGGAGTGGGATGAGGAGTGGGG GGAGGAGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C8orf58_chr8_22594599_22609142	22594864	TGCCTTAA others(82): Show TGCCTTAAGCTGTGATCATGCCACTGCATTCCAGCCTGGGAGAGAGAGAG GACCTGTCTGTTGAAAAAAACACAAAAACAAATGAATGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	332	0.0030	-89	c.-48 others(100): Show c.-4856_-4768delGCCTTAAGCTGTGATCATGCCACTGCATTCCAGC CTGGGAGAGAGAGAGGACCTGTCTGTTGAAAAAAACACAAAAACAAATGA ATGCA	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		4734		chr8	TogoVar
CALD1_chr7_134774634_134975729	134920256	TGCTATGA others(82): Show TGCTATGAAATAAAATCCCTGGGGGTTTTGGTACATGAAAAAGAATAATG AAAGTATGTGTGAGTCATTTTGCCTCCAAATAGTTGATAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(34): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG01243.hp2 HG01255.hp1 HG01981.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02523.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18953.hp2 NA18961.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA19001.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0043 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0035 a0001c0001t0002g0052 a0001c0001t0002g0096 a0001c0001t0003g0011 a0001c0001t0003g0055 a0001c0001t0003g0111 a0001c0001t0003g0120 a0001c0001t0003g0166 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0003g0223 a0001c0001t0006g0144 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0226 a0001c0001t0011g0115 a0001c0001t0011g0182	37	262	0.1412	-89	c.72- others(104): Show c.72-8495_72-8407delTATGAAATAAAATCCCTGGGGGTTTTGGTA CATGAAAAAGAATAATGAAAGTATGTGTGAGTCATTTTGCCTCCAAATAG TTGATAAGC	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227397	GGAGAGTC others(82): Show GGAGAGTCTGGGGGACAGAGGGGGTGTGGGGGACAGGAGGGGGTGTGGAA GACAGAGGAAGTGTGGGGGACAGAAGGGGGTATGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0157 a0001c0007t0006g0157	1	242	0.0041	-89	c.146 others(106): Show c.1469-842_1469-754delGCCCCCCATACCCCCTTCTGTCCCCCAC ACTTCCTCTGTCTTCCACACCCCCTCCTGTCCCCCACACCCCCTCTGTCC CCCAGACTCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CCDC127_chr5_191868_223153	211826	AGATGCTC others(82): Show AGATGCTCGACATCGCACACTGCAGCCACGACGAGACAGCACCACACACC CATCAGGATGGGGCAGACGGGACAGCAGTGTGAGCACACT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00733.hp2 others(41): Show HG00140.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp2 HG01346.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02132.hp2 HG02155.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02735.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03669.hp2 NA18906.hp2 NA18965.hp1 NA18970.hp2 NA18983.hp2 NA18985.hp2 NA19012.hp2 NA19030.hp1 NA19081.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0009 a0001c0002 a0007c0009	a0001c0002t0014 a0001c0002t0015 a0001c0002t0042 others(33): Show a0001c0002t0014 a0001c0002t0015 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0203 a0001c0002t0205 a0001c0002t0206 a0001c0002t0207 a0001c0002t0208 a0001c0002t0209 a0001c0002t0210 a0001c0002t0211 a0001c0002t0212 a0001c0002t0213 a0001c0002t0214 a0001c0002t0215 a0001c0002t0216 a0001c0002t0217 a0001c0002t0218 a0001c0002t0219 a0001c0002t0220 a0001c0002t0221 a0001c0002t0222 a0001c0002t0223 a0001c0002t0224 a0001c0002t0225 a0001c0002t0226 a0001c0002t0227 a0001c0002t0228 a0001c0002t0229 a0001c0002t0230 a0001c0002t0231 a0007c0009t0204	a0001c0002t0014g0266 a0001c0002t0014g0273 a0001c0002t0015g0045 others(37): Show a0001c0002t0014g0266 a0001c0002t0014g0273 a0001c0002t0015g0045 a0001c0002t0015g0292 a0001c0002t0042g0262 a0001c0002t0042g0275 a0001c0002t0043g0042 a0001c0002t0044g0044 a0001c0002t0045g0282 a0001c0002t0045g0285 a0001c0002t0046g0043 a0001c0002t0203g0263 a0001c0002t0205g0280 a0001c0002t0206g0272 a0001c0002t0207g0264 a0001c0002t0208g0279 a0001c0002t0209g0265 a0001c0002t0210g0259 a0001c0002t0211g0274 a0001c0002t0212g0260 a0001c0002t0213g0267 a0001c0002t0214g0261 a0001c0002t0215g0268 a0001c0002t0216g0287 a0001c0002t0217g0286 a0001c0002t0218g0269 a0001c0002t0219g0276 a0001c0002t0220g0277 a0001c0002t0221g0270 a0001c0002t0222g0281 a0001c0002t0223g0283 a0001c0002t0224g0256 a0001c0002t0225g0271 a0001c0002t0226g0284 a0001c0002t0227g0257 a0001c0002t0228g0288 a0001c0002t0229g0293 a0001c0002t0230g0290 a0001c0002t0231g0291 a0007c0009t0204g0278	44	406	0.1084	-89	c.121 others(106): Show c.121+4814_121+4902delAGTGTGCTCACACTGCTGTCCCGTCTGC CCCATCCTGATGGGTGTGTGGTGCTGTCTCGTCGTGGCTGCAGTGTGCGA TGTCGAGCATC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC127_chr5_191868_223153	212933	CGAGACAG others(82): Show CGAGACAGCACCACACACCCATCAGGATGGGGCAGACGGGACAGCAGTGT GAGCACGCTGATGCTTGACATCGCACACTGCAGCCACGAT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18948.hp1 NA19090.hp2 NA18941.hp2 NA18948.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0114 a0001c0001t0123 a0001c0001t0110 a0001c0001t0114 a0001c0001t0123	a0001c0001t0110g0208 a0001c0001t0114g0209 a0001c0001t0123g0214 a0001c0001t0110g0208 a0001c0001t0114g0209 a0001c0001t0123g0214	3	406	0.0074	-89	c.121 others(106): Show c.121+3707_121+3795delATCGTGGCTGCAGTGTGCGATGTCAAGC ATCAGCGTGCTCACACTGCTGTCCCGTCTGCCCCATCCTGATGGGTGTGT GGTGCTGTCTC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC127_chr5_191868_223153	213186	TACTGCAG others(82): Show TACTGCAGCCACGACGAGACAGCACCACACACCCATCAGGATGGGGCAGA CGGGACAGCAGTGTGAGCACACTGATGCTCGACATCGCAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp1 others(7): Show HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02027.hp2 HG02300.hp1 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0034 a0001c0002t0014 a0001c0002t0042 others(6): Show a0001c0001t0034 a0001c0002t0014 a0001c0002t0042 a0001c0002t0206 a0001c0002t0208 a0001c0002t0211 a0001c0002t0219 a0001c0002t0220 a0007c0009t0204	a0001c0001t0034g0017 a0001c0002t0014g0273 a0001c0002t0042g0275 others(6): Show a0001c0001t0034g0017 a0001c0002t0014g0273 a0001c0002t0042g0275 a0001c0002t0206g0272 a0001c0002t0208g0279 a0001c0002t0211g0274 a0001c0002t0219g0276 a0001c0002t0220g0277 a0007c0009t0204g0278	10	406	0.0246	-89	c.121 others(106): Show c.121+3454_121+3542delGTGCGATGTCGAGCATCAGTGTGCTCAC ACTGCTGTCCCGTCTGCCCCATCCTGATGGGTGTGTGGTGCTGTCTCGTC GTGGCTGCAGT	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCDC127_chr5_191868_223153	213443	TGACATCG others(82): Show TGACATCGCACACTGCAGCCACGACGAGACAGCACCACACACCCATCAGG ATGGGGCAGACGGGACAGCAGTGTGAGCACGCTGATGCTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	406	0.0025	-89	c.121 others(106): Show c.121+3197_121+3285delGAGCATCAGCGTGCTCACACTGCTGTCC CGTCTGCCCCATCCTGATGGGTGTGTGGTGCTGTCTCGTCGTGGCTGCAG TGTGCGATGTC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CCL28_chr5_43374193_43417391	43375749	TGGGAGGC others(82): Show TGGGAGGCTGAGGCGGGCGGACCCCGTCTCTATCAAAAATATAAAAAATT AGCCGGGTGTGGTGGTGTGTGCCTGTAATGCCAACTACTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	326	0.0031	-89	c.60 others(100): Show c.6022_*6110delGAGTAGTTGGCATTACAGGCACACACCACCACAC CCGGCTAATTTTTTATATTTTTGATAGAGACGGGGTCCGCCCGCCTCAGC CTCCC	CCL28	ENSG00000151882.11	transcript	ENST00000361115.4	protein_coding		3443		chr5	TogoVar
CCL28_chr5_43374193_43417391	43375781	TCAAAAAT others(82): Show TCAAAAATATAAAAAATTAGCCGGGTGTGGTGGTGTGTGCCTGTAATGCC AACTACTCGGGAGGCTGAGGCGGGCGGACCCCGTCTCTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0156 a0003c0003t0012g0156	1	326	0.0031	-89	c.59 others(100): Show c.5990_*6078delGTAGAGACGGGGTCCGCCCGCCTCAGCCTCCCGA GTAGTTGGCATTACAGGCACACACCACCACACCCGGCTAATTTTTTATAT TTTTG	CCL28	ENSG00000151882.11	transcript	ENST00000361115.4	protein_coding		3411		chr5	TogoVar
CELF1_chr11_47460937_47558132	47541693	AGAAAGAA others(82): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAACGAAAGAAAGAACG AAAGAAAGAAAGAACGAAAGAAAGAACGAAAGAAAGAACG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02451.hp2 HG02293.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0109 a0001c0001t0021g0083 a0001c0001t0002g0109 a0001c0001t0021g0083	2	340	0.0059	-89	c.-15 others(110): Show c.-154+11210_-154+11298delCGTTCTTTCTTTCGTTCTTTCTTT CGTTCTTTCTTTCTTTCGTTCTTTCTTTCGTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTC	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CEP192_chr18_12986362_13130036	13106374	GCTACCAC others(82): Show GCTACCACCACCATCACCACCACTACTACCACTCACCACTGCCATCACCA TTTCCCACACAACCCTCAATTACAACCACACCCCACAGAA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0000 a0000	a0000c0035 a0000c0035	a0000c0035t0001 a0000c0035t0001	a0000c0035t0001g0264 a0000c0035t0001g0264	1	392	0.0026	-89	c.704 others(108): Show c.7047+1308_7047+1396delTCACCACCACTACTACCACTCACCAC TGCCATCACCATTTCCCACACAACCCTCAATTACAACCACACCCCACAGA ACTACCACCACCA	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	40/44		INFO_REALIGN_3_PRIME	chr18	TogoVar
CHFR_chr12_132827356_132892605	132873620	CCTGCTCC others(82): Show CCTGCTCCACAGGGCTGGCTACGGGGCTGGAGTGCACACGGACTTGGGTG CATGCAGGGGCGCTGGAGCTGGACTGACTTTCTGTGTCCT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0291 a0001c0001t0106g0291	1	378	0.0027	-89	c.234 others(106): Show c.234-1315_234-1227delAGGACACAGAAAGTCAGTCCAGCTCCAG CGCCCCTGCATGCACCCAAGTCCGTGTGCACTCCAGCCCCGTAGCCAGCC CTGTGGAGCAG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	3/17			chr12	TogoVar
CLDN8_chr21_30209006_30221097	30210219	CATATATA others(82): Show CATATATATATATATATATATATATATAGTCTCCCTAATTGTAATTCAAG GTACGTATGTGTATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18955.hp1 NA19007.hp2 others(1): Show NA18952.hp1 NA18955.hp1 NA19007.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	4	466	0.0086	-89	c.49 others(100): Show c.4940_*5028delATATATATATATATATATATATATATATACACAT ACGTACCTTGAATTACAATTAGGGAGACTATATATATATATATATATATA TATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3786		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210272	CGTATGTG others(82): Show CGTATGTGTATATATATATATATATATATATATATATATATATATATATA TATATATAGTCTCCCTAATTCTAATTCAAGGTACATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18945.hp1 NA18939.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	466	0.0043	-89	c.48 others(100): Show c.4887_*4975delATATATGTACCTTGAATTAGAATTAGGGAGACTA TATATATATATATATATATATATATATATATATATATATATATATATACA CATAC	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3733		chr21	TogoVar
CMIP_chr16_81439808_81716762	81577278	CACCATCA others(82): Show CACCATCACCTTCATCACCACCATCATCCCCATTACCACTACATTATTAT CACTATCACCATCACCATCATCACCATCACCACCATCATA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	268	0.0037	-89	c.301 others(108): Show c.301-30218_301-30130delCACCATCACCACCATCATAACCATCA CCTTCATCACCACCATCATCCCCATTACCACTACATTATTATCACTATCA CCATCACCATCAT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81659308	ATCAACAG others(82): Show ATCAACAGATAATACAAAAATAACATGGCCAAGGGCTGAGGTTTGTTCTG GGTGTTAGAGGGGGTGCAGAGGATAGGTACTTAACCTCTG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	268	0.0037	-89	c.681 others(106): Show c.681+1496_682-1484delACAGATAATACAAAAATAACATGGCCAA GGGCTGAGGTTTGTTCTGGGTGTTAGAGGGGGTGCAGAGGATAGGTACTT AACCTCTGTCA	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMKLR2_chr2_206170316_206218371	206173005	CGGGAGAG others(82): Show CGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGA GAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG02056.hp1 others(8): Show HG00558.hp2 HG00673.hp2 HG02056.hp1 HG02056.hp2 HG02523.hp2 NA18951.hp2 NA18970.hp1 NA18980.hp1 NA19000.hp2 NA19005.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013	a0001c0001t0002g0170 a0001c0001t0002g0261 a0001c0001t0002g0265 others(8): Show a0001c0001t0002g0170 a0001c0001t0002g0261 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0286 a0001c0001t0002g0306 a0001c0001t0011g0263 a0001c0001t0012g0268 a0001c0001t0013g0271	11	322	0.0342	-89	c.30 others(100): Show c.3086_*3174delTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCT CTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2310		chr2	TogoVar
CNTN6_chr3_1088024_1409217	1245233	TATACACA others(82): Show TATACACACACACATATATATATAACATATATATATATATATACACACAC ATATATATATAACATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18948.hp2 HG02109.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0129 a0001c0006t0001g0216 a0001c0001t0001g0129 a0001c0006t0001g0216	2	232	0.0086	-89	c.358 others(108): Show c.358+17241_358+17329delATACACACACACATATATATATAACA TATATATATATATATACACACACATATATATATAACATATATATATATAT ATATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
COL26A1_chr7_101357875_101564024	101489661	CTTCCTTC others(82): Show CTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCT TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp1 HG03139.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0084 a0002c0004t0001g0129 a0001c0001t0002g0084 a0002c0004t0001g0129	2	174	0.0115	-89	c.385 others(108): Show c.385+41876_385+41964delTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCT CTCTTTCTTTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489663	TCCTTCCT others(82): Show TCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTGTCTTTCTTTCTTT CATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02109.hp1 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0002c0004t0001 a0001c0001t0009 a0002c0004t0001	a0001c0001t0009g0153 a0002c0004t0001g0168 a0001c0001t0009g0153 a0002c0004t0001g0168	2	174	0.0115	-89	c.385 others(108): Show c.385+41877_385+41965delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCTCTCTCTCTTTCTC TCTTTCTTTCTTG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12			chr7	TogoVar
COLEC11_chr2_3590112_3649644	3640885	TCCCACGG others(82): Show TCCCACGGCGGACACCCACCCCCGTCACATCCCACGGCGGACACCCACCC CCGTCACATCCCACGGTGGACACCCACCCACCATGTAGAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01975.hp2 HG01081.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0218 a0001c0001t0001g0021 a0001c0001t0001g0218	2	378	0.0053	-89	c.328 others(104): Show c.328+562_328+650delCGGACACCCACCCCCGTCACATCCCACGGC GGACACCCACCCCCGTCACATCCCACGGTGGACACCCACCCACCATGTAG ACCCCACGG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC11_chr2_3590112_3649644	3640893	CGGACACC others(82): Show CGGACACCCACCCCCGTCACATCCCACGGCGGACACCCACCCCCGTCACA TCCCACGGTGGACACCCACCCACCATGTAGACCCCACGGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp1 HG02896.hp1 others(4): Show HG02055.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0018 a0002c0005t0002g0181 a0002c0005t0002g0182 others(4): Show a0002c0005t0002g0018 a0002c0005t0002g0181 a0002c0005t0002g0182 a0002c0005t0002g0183 a0002c0005t0002g0211 a0002c0005t0002g0212 a0002c0005t0002g0348	7	378	0.0185	-89	c.328 others(104): Show c.328+575_328+663delCCGTCACATCCCACGGCGGACACCCACCCC CGTCACATCCCACGGTGGACACCCACCCACCATGTAGACCCCACGGTGGA CACCCACCC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)