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.

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
COL18A1_chr21_45400165_45518720	45508387	AGATGGAT others(32): Show AGATGGATGGTGGATAGGTAGATGAGTGGATGAATGGGTG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0007 a0007	a0007c0031 a0007c0031	a0007c0031t0002 a0007c0031t0002	a0007c0031t0002g0160 a0007c0031t0002g0160	1	292	0.0034	-39	c.324 others(56): Show c.3249+807_3249+845delATAGGTAGATGAGTGGATGAATGGGTGG ATGGATGGTGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	38/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178547597	ACCCACAC others(32): Show ACCCACACACACACCCCCCACACACACCCACCCACACCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(119): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012	a0001c0001 a0001c0004 a0002c0002 others(13): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0009 a0002c0022 a0003c0005 a0003c0007 a0004c0006 a0004c0011 a0005c0008 a0006c0020 a0009c0016 a0010c0017 a0011c0013 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0009t0006 a0002c0022t0009 a0003c0005t0002 a0003c0005t0003 a0003c0005t0005 a0003c0007t0001 a0004c0006t0004 a0004c0011t0001 a0005c0008t0002 a0006c0020t0012 a0009c0016t0002 a0010c0017t0003 a0011c0013t0005 a0012c0012t0002	a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0199 others(119): Show a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0199 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0189 a0001c0001t0002g0202 a0001c0001t0003g0116 a0001c0001t0003g0122 a0001c0001t0003g0159 a0001c0001t0003g0196 a0001c0001t0004g0011 a0001c0001t0004g0021 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0054 a0001c0001t0004g0065 a0001c0001t0004g0069 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0098 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0190 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0009 a0001c0001t0005g0147 a0001c0001t0005g0207 a0001c0001t0007g0008 a0001c0004t0001g0007 a0001c0004t0001g0042 a0001c0004t0001g0094 a0001c0004t0004g0023 a0001c0004t0004g0110 a0001c0004t0004g0223 a0001c0004t0005g0059 a0001c0004t0005g0060 a0001c0004t0005g0105 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0033 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0002t0011g0038 a0002c0003t0001g0004 a0002c0003t0002g0034 a0002c0003t0002g0138 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0004g0099 a0002c0003t0004g0100 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0005g0146 a0002c0003t0006g0229 a0002c0003t0008g0231 a0002c0009t0006g0232 a0002c0022t0009g0233 a0003c0005t0002g0163 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0145 a0003c0005t0003g0156 a0003c0005t0003g0220 a0003c0005t0005g0208 a0003c0007t0001g0012 a0003c0007t0001g0013 a0003c0007t0001g0044 a0003c0007t0001g0137 a0003c0007t0001g0154 a0004c0006t0004g0135 a0004c0006t0004g0136 a0004c0011t0001g0093 a0005c0008t0002g0003 a0005c0008t0002g0050 a0005c0008t0002g0053 a0005c0008t0002g0155 a0005c0008t0002g0187 a0006c0020t0012g0085 a0009c0016t0002g0108 a0010c0017t0003g0018 a0011c0013t0005g0132 a0012c0012t0002g0162	122	236	0.5170	-39	c.361 others(58): Show c.361+13046_361+13084delGGGGTGTGGGTGGGTGTGTGTGGGGG GTGTGTGTGTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110252501	ATATATGT others(32): Show ATATATGTATTATATATACGTATAATTATACGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01255.hp1 others(8): Show HG00140.hp2 HG00280.hp2 HG01255.hp1 HG02647.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03491.hp1 HG03540.hp2 HG03710.hp2 NA18974.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0007 a0001c0016 a0001c0020 others(4): Show a0001c0007 a0001c0016 a0001c0020 a0002c0093 a0003c0008 a0003c0080 a0004c0017	a0001c0007t0001 a0001c0016t0003 a0001c0020t0001 others(4): Show a0001c0007t0001 a0001c0016t0003 a0001c0020t0001 a0002c0093t0003 a0003c0008t0001 a0003c0080t0001 a0004c0017t0001	a0001c0007t0001g0046 a0001c0016t0003g0109 a0001c0016t0003g0110 others(8): Show a0001c0007t0001g0046 a0001c0016t0003g0109 a0001c0016t0003g0110 a0001c0016t0003g0111 a0001c0020t0001g0090 a0001c0020t0001g0112 a0002c0093t0003g0217 a0003c0008t0001g0210 a0003c0008t0001g0211 a0003c0080t0001g0208 a0004c0017t0001g0093	11	344	0.0320	-39	c.85- others(54): Show c.85-9806_85-9768delCATATATACGTATAATTATACGTATATATA ATACATATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A4_chr2_226997714_227169205	227041703	AGAAGGAA others(32): Show AGAAGGAAGGAAGGGAGGAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 HG03209.hp2 HG03453.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0005 a0002c0019t0005	a0002c0019t0005g0029 a0002c0019t0005g0166 a0002c0019t0005g0029 a0002c0019t0005g0166	2	284	0.0070	-39	c.350 others(56): Show c.3505+406_3505+444delCTTCCTTCCTTCCTTCCTTCCTCCTCCC TTCCTTCCTTC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041848	GAGAAAGA others(32): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	284	0.0035	-39	c.350 others(56): Show c.3505+261_3505+299delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A6_chrX_108150614_108443422	108440061	CAATTGGT others(32): Show CAATTGGTTAGAGCCAGCCGGGAATTTCGTGCGGGTGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	234	0.0043	-39	c.-19 others(50): Show c.-1904_-1866delCAGCACCCGCACGAAATTCCCGGCTGGCTCTAAC CAATT	COL4A6	ENSG00000197565.17	transcript	ENST00000334504.12	protein_coding		1640		chrX	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02886.hp1 others(2): Show HG02257.hp2 HG02622.hp2 HG02886.hp1 HG03139.hp1 HG04228.hp2	a0002 a0003 a0025 a0002 a0003 a0025	a0002c0001 a0003c0028 a0003c0080 others(1): Show a0002c0001 a0003c0028 a0003c0080 a0025c0115	a0002c0001t0001 a0003c0028t0004 a0003c0080t0005 others(1): Show a0002c0001t0001 a0003c0028t0004 a0003c0080t0005 a0025c0115t0004	a0002c0001t0001g0276 a0003c0028t0004g0183 a0003c0028t0004g0184 others(2): Show a0002c0001t0001g0276 a0003c0028t0004g0183 a0003c0028t0004g0184 a0003c0080t0005g0099 a0025c0115t0004g0120	5	322	0.0155	-39	c.766 others(56): Show c.7668+797_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343538	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02572.hp2 HG03098.hp2 others(4): Show HG02293.hp1 HG02572.hp2 HG03098.hp2 HG03669.hp1 HG03688.hp2 NA19030.hp2 NA19080.hp1	a0003 a0017 a0020 a0003 a0017 a0020	a0003c0005 a0003c0027 a0003c0033 others(2): Show a0003c0005 a0003c0027 a0003c0033 a0017c0024 a0020c0129	a0003c0005t0001 a0003c0005t0007 a0003c0027t0001 others(4): Show a0003c0005t0001 a0003c0005t0007 a0003c0027t0001 a0003c0033t0001 a0003c0033t0003 a0017c0024t0001 a0020c0129t0001	a0003c0005t0001g0317 a0003c0005t0007g0023 a0003c0027t0001g0149 others(4): Show a0003c0005t0001g0317 a0003c0005t0007g0023 a0003c0027t0001g0149 a0003c0033t0001g0174 a0003c0033t0003g0029 a0017c0024t0001g0063 a0020c0129t0001g0137	7	322	0.0217	-39	c.766 others(56): Show c.7668+773_7668+811delGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COMTD1_chr10_75228641_75240957	75237537	TAGGGGAC others(32): Show TAGGGGACCAAATGAGAAAATCCAGGCTGAGGACTTACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-39	c.-16 others(50): Show c.-1648_-1610delGTGTAAGTCCTCAGCCTGGATTTTCTCATTTGGT CCCCT	COMTD1	ENSG00000165644.11	transcript	ENST00000372538.8	protein_coding		1581		chr10	TogoVar
CORO1C_chr12_108640109_108736518	108655804	TGTCTGGG others(32): Show TGTCTGGGAGGTGAGGGGCATCTCTGCCTGGCCGCCCATC	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	326	0.0031	-39	c.751 others(56): Show c.751-1433_751-1395delGATGGGCGGCCAGGCAGAGATGCCCCTC ACCTCCCAGAC	CORO1C	ENSG00000110880.11	transcript	ENST00000261401.8	protein_coding	6/10			chr12	TogoVar
CORT_chr1_10445031_10456998	10445270	TGCATGCC others(32): Show TGCATGCCTGTAGACCCAGTTAGCTACTCAGGAGGCTGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01884.hp1 others(21): Show HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03209.hp2 HG03579.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	24	428	0.0561	-39	c.-49 others(50): Show c.-4953_-4915delGCATGCCTGTAGACCCAGTTAGCTACTCAGGAGG CTGAG	CORT	ENSG00000241563.4	transcript	ENST00000377049.4	protein_coding		4760		chr1	TogoVar
COX18_chr4_73047362_73074716	73073964	CATGGTCT others(32): Show CATGGTCTCAAAAAGTTATGGGTTTTTTTATTGTTCAAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	384	0.0026	-39	c.-43 others(50): Show c.-4354_-4316delATTTGAACAATAAAAAAACCCATAACTTTTTGAG ACCAT	COX18	ENSG00000163626.17	transcript	ENST00000507544.3	protein_coding		4249		chr4	TogoVar
CPEB1_chr15_82538201_82652363	82647565	AGGCCGCC others(32): Show AGGCCGCCTGGAGGCCGCAGTGCGGCTCGGAGGCCCCACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0024 a0002c0002t0023g0024	1	354	0.0028	-39	c.-56 others(48): Show c.-565_-527delGGTGGGGCCTCCGAGCCGCACTGCGGCCTCCAGGCG GCC	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding		203		chr15	TogoVar
CPED1_chr7_120983711_121302442	121047646	TTTCTTCT others(32): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02723.hp2 HG02970.hp1 others(1): Show HG02055.hp2 HG02723.hp2 HG02970.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 a0001c0001t0001 a0001c0001t0003 a0002c0002t0005	a0001c0001t0001g0047 a0001c0001t0003g0010 a0002c0002t0005g0005 others(1): Show a0001c0001t0001g0047 a0001c0001t0003g0010 a0002c0002t0005g0005 a0002c0002t0005g0007	4	140	0.0286	-39	c.540 others(54): Show c.540+686_540+724delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLX1_chr4_779957_831129	789919	CACCCCAA others(32): Show CACCCCAACAGGTGGCCACGCCTGAAGGCAGGGTTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02486.hp1 others(1): Show HG02055.hp2 HG02280.hp2 HG02486.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0184 a0001c0001t0003g0185 others(1): Show a0001c0001t0003g0080 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0188	4	416	0.0096	-39	c.207 others(56): Show c.207+2475_207+2513delAGGGGAACCCTGCCTTCAGGCGTGGCCA CCTGTTGGGGT	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	3/3			chr4	TogoVar
CPLX1_chr4_779957_831129	789987	AGGGTTCC others(32): Show AGGGTTCCCCCACCCCAACAGGTGGCCACGCCTGAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0109 a0001c0001t0006g0109	1	416	0.0024	-39	c.207 others(56): Show c.207+2407_207+2445delCGCCCTCAGGCGTGGCCACCTGTTGGGG TGGGGGAACCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	3/3			chr4	TogoVar
CPLX1_chr4_779957_831129	793280	CTGGCAGG others(32): Show CTGGCAGGGGCCCTGCTGGGGCAGGAGCTGGCATGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp2 HG02886.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0134 a0001c0001t0003g0135	2	416	0.0048	-39	c.32- others(52): Show c.32-711_32-673delACCCCCATGCCAGCTCCTGCCCCAGCAGGGCC CCTGCCA	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding	2/3			chr4	TogoVar
CPNE5_chr6_36735775_36844444	36821112	GCATGGAA others(32): Show GCATGGAAGGGCTACTAAGCCATGTGGGAAAAGAGCATTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(70): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00741.hp2 HG01074.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp1 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03239.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0002 a0001c0003t0012 a0001c0012t0002	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 others(70): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0147 a0001c0001t0001g0293 a0001c0001t0003g0037 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0094 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0153 a0001c0001t0004g0135 a0001c0001t0004g0356 a0001c0001t0004g0369 a0001c0001t0008g0093 a0001c0001t0008g0117 a0001c0002t0001g0077 a0001c0002t0001g0120 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0082 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0126 a0001c0002t0002g0140 a0001c0002t0003g0148 a0001c0002t0005g0089 a0001c0002t0005g0090 a0001c0003t0002g0036 a0001c0003t0002g0078 a0001c0003t0002g0081 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0107 a0001c0003t0002g0128 a0001c0003t0002g0134 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0142 a0001c0003t0002g0145 a0001c0003t0012g0106 a0001c0012t0002g0087	73	380	0.1921	-39	c.183 others(55): Show c.183+963_183+1001delGAATGCTCTTTTCCCACATGGCTTAGTAG CCCTTCCATG	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	3/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89588003	CCCGTGTT others(32): Show CCCGTGTTACCCACAGATACACGGCCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	348	0.0029	-39	c.928 others(54): Show c.928-670_928-632delCGTGTTACCCACAGATACACGGCCCCCCGT GTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89590750	CGGGGGAG others(32): Show CGGGGGAGCAGCTGACTGGGGGACATGGGGGCCGGGGACG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(48): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00741.hp2 HG01074.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp2 HG01993.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03492.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18982.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0024 a0001c0029 a0002c0010 a0005c0026	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0009t0001 a0001c0024t0001 a0001c0029t0001 a0002c0010t0001 a0005c0026t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0054 others(48): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0001g0333 a0001c0001t0001g0341 a0001c0002t0001g0029 a0001c0002t0002g0023 a0001c0002t0002g0278 a0001c0002t0003g0260 a0001c0002t0005g0019 a0001c0002t0005g0020 a0001c0002t0005g0186 a0001c0002t0005g0187 a0001c0002t0005g0289 a0001c0002t0013g0194 a0001c0009t0001g0013 a0001c0009t0001g0061 a0001c0024t0001g0218 a0001c0029t0001g0270 a0002c0010t0001g0245 a0005c0026t0001g0017	51	348	0.1466	-39	c.111 others(56): Show c.1117-202_1117-164delTGGGGGACATGGGGGCCGGGGACGGGGG GAGCAGCTGAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPO_chr2_206934518_206974474	206943702	AGATAGAT others(32): Show AGATAGATAGATAGATGATGGATAGATGATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0333 a0002c0003t0001g0333	1	422	0.0024	-39	c.68+ others(54): Show c.68+4036_68+4074delGATAGATAGATAGATGATGGATAGATGATA GATAGATAG	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8			chr2	TogoVar
CPPED1_chr16_12654799_12808887	12716910	GAAGCACT others(32): Show GAAGCACTGGGTGCCGTGGAAGCTCAGGGTGGGGGTAACT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02280.hp1 others(2): Show HG01109.hp1 HG01261.hp2 HG02280.hp1 HG02647.hp2 HG02717.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0002c0002t0011 a0003c0003t0007	a0001c0001t0001g0164 a0001c0001t0004g0288 a0001c0001t0005g0247 others(2): Show a0001c0001t0001g0164 a0001c0001t0004g0288 a0001c0001t0005g0247 a0002c0002t0011g0066 a0003c0003t0007g0246	5	290	0.0172	-39	c.290 others(58): Show c.290-11900_290-11862delAGTTACCCCCACCCTGAGCTTCCACG GCACCCAGTGCTT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPSF1_chr8_144388231_144414335	144397067	GAGGGAGA others(32): Show GAGGGAGATGGGGTGGAGCCACGGGAAGGGGCGGGGCCGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	350	0.0029	-39	c.259 others(56): Show c.2592+101_2592+139delACGGCCCCGCCCCTTCCCGTGGCTCCAC CCCATCTCCCT	CPSF1	ENSG00000071894.17	transcript	ENST00000616140.2	protein_coding	23/37			chr8	TogoVar
CRAMP1_chr16_1607360_1682908	1661321	AGGTCCTG others(32): Show AGGTCCTGGCCTCCTGGGTGACGGAGGGGGCCGGGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01978.hp2 HG02723.hp1 HG01192.hp2 HG01978.hp2 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 a0001c0003 a0001c0004 a0001c0005	a0001c0003t0001 a0001c0004t0001 a0001c0005t0005 a0001c0003t0001 a0001c0004t0001 a0001c0005t0005	a0001c0003t0001g0155 a0001c0004t0001g0188 a0001c0005t0005g0272 a0001c0003t0001g0155 a0001c0004t0001g0188 a0001c0005t0005g0272	3	332	0.0090	-39	c.241 others(56): Show c.2414-983_2414-945delCCGGGTGAGGGGTCCTGGCCTCCTGGGT GACGGAGGGGG	CRAMP1	ENSG00000007545.16	transcript	ENST00000397412.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRB1_chr1_197263252_197483455	197453865	ATATTATT others(32): Show ATATTATTAATAATATATATTATTAATATTATTATATTAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02165.hp1 HG02257.hp2 others(1): Show HG00423.hp2 HG02165.hp1 HG02257.hp2 NA18955.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0041 a0006c0006t0001g0158	4	186	0.0215	-39	c.400 others(60): Show c.4005+11576_4005+11614delTTATTAATAATATATATTATTAAT ATTATTATATTATTA	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CREB3L2_chr7_137869979_138007086	137946755	ATCTATAT others(32): Show ATCTATATAGTTTAGTTATCTATATAGTTATCTATATAGT	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	288	0.0035	-39	c.103 others(58): Show c.103-18428_103-18390delACTATATAGATAACTATATAGATAAC TAAACTATATAGA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CRISP2_chr6_49687359_49718543	49701935	TAATATAT others(32): Show TAATATATGTAATATAATATATTATATTATACATAATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0002c0003 others(6): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0006c0007 a0007c0009 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0002t0003 a0001c0002t0011 a0002c0003t0001 a0003c0004t0002 a0004c0005t0001 a0004c0005t0009 a0005c0006t0002 a0006c0007t0001 a0006c0007t0002 a0007c0009t0001 a0008c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(258): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0249 a0001c0001t0002g0269 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0005g0068 a0001c0001t0006g0133 a0001c0001t0007g0183 a0001c0001t0008g0272 a0001c0001t0010g0246 a0001c0001t0012g0278 a0001c0002t0003g0002 a0001c0002t0003g0075 a0001c0002t0003g0095 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0011g0074 a0002c0003t0001g0024 a0002c0003t0001g0050 a0002c0003t0001g0217 a0003c0004t0002g0038 a0003c0004t0002g0134 a0004c0005t0001g0251 a0004c0005t0001g0259 a0004c0005t0009g0252 a0005c0006t0002g0049 a0006c0007t0001g0182 a0006c0007t0002g0100 a0007c0009t0001g0265 a0008c0008t0001g0106	383	410	0.9342	-39	c.67- others(54): Show c.67-1190_67-1152delTATATTATGTATAATATAATATATTATATT ACATATATT	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar
CROCC2_chr2_240901336_240998311	240985115	ACCCAGGC others(32): Show ACCCAGGCACTCACTCCACACACACCCAGGCACTCACTCC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0278 a0002c0002t0002g0278	1	350	0.0029	-39	c.455 others(58): Show c.4551+2087_4551+2125delCCCAGGCACTCACTCCACACACACCC AGGCACTCACTCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985243	ACCCAGGC others(32): Show ACCCAGGCACTCACTCCACACACACACCCAGGCACTCCAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	350	0.0029	-39	c.455 others(58): Show c.4551+2215_4551+2253delCCCAGGCACTCACTCCACACACACAC CCAGGCACTCCAC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240985268	ACCCAGGC others(32): Show ACCCAGGCACTCCACACACACACACCCAGGCACTCACTCC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00673.hp2 others(7): Show HG00544.hp2 HG00558.hp2 HG00673.hp2 HG01192.hp2 HG01981.hp1 HG02735.hp2 HG03688.hp1 HG03927.hp2 NA18962.hp2 NA19080.hp2	a0001 a0005 a0007 others(3): Show a0001 a0005 a0007 a0034 a0040 a0060	a0001c0001 a0001c0022 a0005c0005 others(4): Show a0001c0001 a0001c0022 a0005c0005 a0007c0006 a0034c0083 a0040c0057 a0060c0093	a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0002 a0005c0005t0002 a0007c0006t0001 a0034c0083t0001 a0040c0057t0002 a0060c0093t0001	a0001c0001t0001g0058 a0001c0001t0001g0154 a0001c0001t0002g0277 others(7): Show a0001c0001t0001g0058 a0001c0001t0001g0154 a0001c0001t0002g0277 a0001c0001t0002g0327 a0001c0022t0002g0322 a0005c0005t0002g0321 a0007c0006t0001g0055 a0034c0083t0001g0136 a0040c0057t0002g0335 a0060c0093t0001g0054	10	350	0.0286	-39	c.455 others(58): Show c.4551+2240_4551+2278delCCCAGGCACTCCACACACACACACCC AGGCACTCACTCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CRYAB_chr11_111903564_111916770	111915119	TTGGGAGT others(32): Show TTGGGAGTTATAGACCCTTCTGAAAATCTGACAAAAGCTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA19059.hp1 NA18974.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	398	0.0050	-39	c.-34 others(50): Show c.-3434_-3396delTAGCTTTTGTCAGATTTTCAGAAGGGTCTATAAC TCCCA	CRYAB	ENSG00000109846.9	transcript	ENST00000650687.2	protein_coding		3350		chr11	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666999	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02735.hp2 HG04184.hp2 HG02647.hp1 HG02735.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0004 a0002c0003t0003 a0001c0002t0004 a0002c0003t0003	a0001c0002t0004g0153 a0002c0003t0003g0048 a0002c0003t0003g0099 a0001c0002t0004g0153 a0002c0003t0003g0048 a0002c0003t0003g0099	3	238	0.0126	-39	c.-39 others(60): Show c.-391-65173_-391-65135delTTCCTTCCTTCCTTCCTTCCTTTC TTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667003	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0034 a0002c0003t0034	a0002c0003t0034g0054 a0002c0003t0034g0054	1	238	0.0042	-39	c.-39 others(60): Show c.-391-65177_-391-65139delTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667007	GAAAGAAA others(32): Show GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0036 a0001c0002t0012g0036	1	238	0.0042	-39	c.-39 others(60): Show c.-391-65181_-391-65143delTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2973907	GTGGTAGA others(32): Show GTGGTAGAGGATGGTGGTAGAGGATGGTGGTAGAGGATGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18522.hp1 HG02622.hp2 NA18522.hp1	a0010 a0027 a0010 a0027	a0010c0112 a0027c0023 a0010c0112 a0027c0023	a0010c0112t0081 a0027c0023t0001 a0010c0112t0081 a0027c0023t0001	a0010c0112t0081g0090 a0027c0023t0001g0052 a0010c0112t0081g0090 a0027c0023t0001g0052	2	126	0.0159	-39	c.874 others(56): Show c.8740+505_8740+543delTCATCCTCTACCACCATCCTCTACCACC ATCCTCTACCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	56/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3660480	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01081.hp2 HG01123.hp2 others(19): Show HG00099.hp1 HG01081.hp2 HG01123.hp2 HG02056.hp1 HG02559.hp2 HG02647.hp2 HG02683.hp2 HG02886.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG04204.hp1 HG06807.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA19030.hp2 NA19060.hp1 NA19240.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0012 a0028 a0030 a0034 a0039	a0001c0002 a0001c0003 a0001c0005 others(18): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0043 a0001c0080 a0001c0085 a0001c0105 a0002c0035 a0002c0036 a0002c0037 a0002c0054 a0002c0074 a0002c0078 a0002c0084 a0005c0107 a0012c0104 a0028c0097 a0030c0052 a0034c0055 a0039c0009	a0001c0002t0002 a0001c0003t0008 a0001c0003t0013 others(19): Show a0001c0002t0002 a0001c0003t0008 a0001c0003t0013 a0001c0005t0002 a0001c0007t0001 a0001c0043t0031 a0001c0080t0040 a0001c0085t0020 a0001c0105t0001 a0002c0035t0047 a0002c0036t0029 a0002c0037t0009 a0002c0054t0079 a0002c0074t0041 a0002c0078t0044 a0002c0084t0018 a0005c0107t0068 a0012c0104t0071 a0028c0097t0018 a0030c0052t0049 a0034c0055t0034 a0039c0009t0001	a0001c0002t0002g0083 a0001c0003t0008g0053 a0001c0003t0013g0026 others(19): Show a0001c0002t0002g0083 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0005t0002g0111 a0001c0007t0001g0035 a0001c0043t0031g0044 a0001c0080t0040g0025 a0001c0085t0020g0060 a0001c0105t0001g0029 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0054t0079g0096 a0002c0074t0041g0031 a0002c0078t0044g0064 a0002c0084t0018g0087 a0005c0107t0068g0073 a0012c0104t0071g0058 a0028c0097t0018g0089 a0030c0052t0049g0098 a0034c0055t0034g0047 a0039c0009t0001g0002	22	126	0.1746	-39	c.101 others(60): Show c.1010-43722_1010-43684delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926036	CACACACA others(32): Show CACACACAAACACCATATACACACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG01255.hp2 others(4): Show HG00099.hp1 HG01123.hp2 HG01255.hp2 HG02074.hp1 HG04204.hp2 NA18984.hp2 NA19090.hp2	a0001 a0002 a0028 a0001 a0002 a0028	a0001c0001 a0001c0003 a0001c0049 others(3): Show a0001c0001 a0001c0003 a0001c0049 a0001c0079 a0002c0092 a0028c0097	a0001c0001t0002 a0001c0003t0008 a0001c0003t0013 others(4): Show a0001c0001t0002 a0001c0003t0008 a0001c0003t0013 a0001c0049t0002 a0001c0079t0072 a0002c0092t0001 a0028c0097t0018	a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0013g0026 others(4): Show a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0049t0002g0071 a0001c0079t0072g0113 a0002c0092t0001g0011 a0028c0097t0018g0089	7	126	0.0556	-39	c.818 others(58): Show c.818+71828_818+71866delTTGTGTGTGTGTGTGTGTGTGTATAT GGTGTTTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920907	AAAAGAAA others(32): Show AAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0003 a0013c0027t0003	a0013c0027t0003g0099 a0013c0027t0003g0099	1	126	0.0079	-39	c.85+ others(56): Show c.85+73386_85+73424delCTTTCTTTCTTTCTCTCTTTCTTTTCTT TTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542656	ATATATAT others(32): Show ATATATATATATATATGTATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	390	0.0026	-39	c.230 others(56): Show c.230+7380_230+7418delAAATATATATATATATATATATACATAT ATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1D_chr17_82237667_82278700	82259915	GTGACTGA others(32): Show GTGACTGATGGTGTACTGACTGATGGTGTACTGACTGATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02572.hp2 HG03453.hp2 HG00639.hp2 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0236 a0001c0001t0002g0035 a0001c0001t0002g0236	3	320	0.0094	-39	c.188 others(56): Show c.188-4377_188-4339delTATCAGTCAGTACACCATCAGTCAGTAC ACCATCAGTCA	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSNK1D_chr17_82237667_82278700	82260263	GTGACTGA others(32): Show GTGACTGATGGTGTACTGAGTGATGCGACTGATAGTGTAT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG02015.hp1 others(3): Show HG00558.hp2 HG00673.hp2 HG02015.hp1 HG02155.hp2 NA18944.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0077 a0001c0001t0001g0078 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0112 a0001c0001t0001g0113	6	320	0.0188	-39	c.188 others(56): Show c.188-4725_188-4687delATACACTATCAGTCGCATCACTCAGTAC ACCATCAGTCA	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSNK1D_chr17_82237667_82278700	82260413	GTGACTGA others(32): Show GTGACTGATGGTGTACTGAGTGATGTGACTGATGGTGTAC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0202 a0001c0001t0026g0202	1	320	0.0031	-39	c.188 others(56): Show c.188-4875_188-4837delGTACACCATCAGTCACATCACTCAGTAC ACCATCAGTCA	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSRNP3_chr2_165464698_165694407	165520770	TTATATAT others(32): Show TTATATATATATATTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00735.hp2 others(21): Show HG00140.hp1 HG00280.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG02004.hp1 HG02055.hp1 HG02559.hp2 HG02572.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03225.hp1 HG03516.hp1 HG06807.hp1 NA19030.hp1 NA19054.hp2 NA19082.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0033 a0001c0001t0067 a0001c0001t0078 a0001c0002t0001 a0001c0002t0012 a0001c0002t0017 a0001c0002t0021 a0001c0002t0097 a0002c0003t0050 a0002c0003t0098	a0001c0001t0002g0232 a0001c0001t0003g0217 a0001c0001t0003g0225 others(21): Show a0001c0001t0002g0232 a0001c0001t0003g0217 a0001c0001t0003g0225 a0001c0001t0007g0207 a0001c0001t0009g0098 a0001c0001t0009g0212 a0001c0001t0009g0231 a0001c0001t0018g0210 a0001c0001t0020g0218 a0001c0001t0025g0215 a0001c0001t0028g0208 a0001c0001t0033g0211 a0001c0001t0067g0216 a0001c0001t0078g0206 a0001c0002t0001g0111 a0001c0002t0001g0205 a0001c0002t0001g0224 a0001c0002t0012g0100 a0001c0002t0012g0202 a0001c0002t0017g0195 a0001c0002t0021g0101 a0001c0002t0097g0196 a0002c0003t0050g0209 a0002c0003t0098g0099	24	246	0.0976	-39	c.-24 others(56): Show c.-24+2823_-24+2861delTATATATATATATATATATATATATATA TATATATATAT	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490055	AAATATAT others(32): Show AAATATATATATAAATTATATATATATTAATTATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-39	c.-14 others(50): Show c.-1430_-1392delAATATATATATAAATTATATATATATTAATTATA TATAT	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1061		chr20	TogoVar
CSTF2T_chr10_51690486_51704595	51701702	AGTTGAAT others(32): Show AGTTGAATATGTGTGTAATTGTGTGTGTATTAAATGTAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00597.hp2 others(80): Show HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00642.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01884.hp2 HG02004.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02602.hp1 HG02723.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp2 NA18953.hp2 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19059.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0010c0012	a0001c0001t0001 a0001c0002t0003 a0001c0002t0009 others(6): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0018 a0001c0002t0028 a0001c0003t0006 a0001c0003t0029 a0001c0008t0003 a0010c0012t0003	a0001c0001t0001g0000 a0001c0002t0003g0000 a0001c0002t0009g0000 others(6): Show a0001c0001t0001g0000 a0001c0002t0003g0000 a0001c0002t0009g0000 a0001c0002t0018g0000 a0001c0002t0028g0000 a0001c0003t0006g0000 a0001c0003t0029g0000 a0001c0008t0003g0000 a0010c0012t0003g0000	83	428	0.1939	-39	c.-21 others(50): Show c.-2192_-2154delACTACATTTAATACACACACAATTACACACATAT TCAAC	CSTF2T	ENSG00000177613.9	transcript	ENST00000331173.6	protein_coding		2108		chr10	TogoVar
CSTF3_chr11_33079584_33166480	33163897	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp1 others(6): Show HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp2 HG01261.hp1 HG01981.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0015 a0001c0001t0003g0105 a0001c0001t0003g0127 others(4): Show a0001c0001t0003g0015 a0001c0001t0003g0105 a0001c0001t0003g0127 a0001c0001t0003g0169 a0001c0001t0003g0172 a0001c0002t0002g0008 a0001c0002t0002g0118	9	360	0.0250	-39	c.-26 others(50): Show c.-2611_-2573delAAAAAAAAAAATATATATATATATATATATATAT ATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2418		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163899	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01192.hp2 HG02071.hp1 others(19): Show HG01074.hp1 HG01192.hp2 HG02071.hp1 HG02145.hp1 HG02273.hp2 HG03471.hp2 HG03834.hp1 HG06807.hp2 NA18950.hp1 NA18953.hp2 NA18960.hp1 NA18965.hp1 NA18967.hp1 NA18979.hp2 NA18982.hp2 NA18989.hp1 NA19000.hp1 NA19004.hp2 NA19011.hp1 NA19055.hp2 NA19080.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0016 others(13): Show a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0016 a0001c0001t0003g0104 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0155 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0186	22	360	0.0611	-39	c.-26 others(50): Show c.-2613_-2575delAAAAAAAAAAAAATATATATATATATATATATAT ATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2420		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163901	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01346.hp2 others(17): Show HG00408.hp1 HG00609.hp1 HG01346.hp2 HG01361.hp1 HG02015.hp2 HG02080.hp1 HG02165.hp2 HG03927.hp1 HG04228.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp2 NA18962.hp1 NA18970.hp1 NA18974.hp2 NA18991.hp2 NA18994.hp1 NA19001.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0028 a0001c0001t0003g0122 a0001c0001t0003g0123 others(17): Show a0001c0001t0003g0028 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0161 a0001c0001t0003g0177 a0001c0001t0003g0183 a0001c0001t0006g0174	20	360	0.0556	-39	c.-26 others(50): Show c.-2615_-2577delAAAAAAAAAAAAAAATATATATATATATATATAT ATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2422		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163903	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 NA18939.hp2 NA18987.hp2 others(2): Show HG02155.hp2 NA18939.hp2 NA18987.hp2 NA19057.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0045 a0001c0001t0003g0131 a0001c0001t0003g0133 others(2): Show a0001c0001t0002g0045 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0153 a0001c0001t0003g0176	5	360	0.0139	-39	c.-26 others(50): Show c.-2617_-2579delAAAAAAAAAAAAAAAAATATATATATATATATAT ATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2424		chr11	TogoVar
CTNNA2_chr2_79508051_80653780	79850286	TCCTCCCT others(32): Show TCCTCCCTCCCTCCCCCCTCCCTTCCTTTCTTCCTTCATC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02622.hp2 others(4): Show HG02145.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001	a0001c0001t0001g0001 a0001c0004t0001g0006 a0001c0004t0001g0021 others(4): Show a0001c0001t0001g0001 a0001c0004t0001g0006 a0001c0004t0001g0021 a0001c0004t0001g0032 a0001c0004t0001g0059 a0001c0004t0002g0048 a0001c0007t0001g0068	7	68	0.1029	-39	c.299 others(56): Show c.299-7712_299-7674delCCCTCCCTTCCTTTCTTCCTTCATCCCT CCCTCCCTCCC	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar

Search by Variant

Search

Search Results (Total: 1684 hits)