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
CHAT_chr10_49609037_49672942	49647740	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(39): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01256.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01934.hp1 HG02165.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp2 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04204.hp1 NA18973.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA19058.hp2 NA19063.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0001c0015 others(5): Show a0001c0001 a0001c0005 a0001c0015 a0001c0019 a0001c0030 a0002c0002 a0003c0004 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0005t0009 a0001c0005t0030 a0001c0015t0005 a0001c0015t0009 a0001c0019t0002 a0001c0030t0004 a0002c0002t0002 a0002c0002t0007 a0002c0002t0008 a0003c0004t0004 a0003c0006t0005	a0001c0001t0001g0346 a0001c0001t0001g0354 a0001c0001t0002g0176 others(35): Show a0001c0001t0001g0346 a0001c0001t0001g0354 a0001c0001t0002g0176 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0058 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0232 a0001c0001t0004g0342 a0001c0001t0004g0355 a0001c0001t0007g0003 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0202 a0001c0001t0007g0210 a0001c0001t0007g0234 a0001c0001t0008g0033 a0001c0001t0008g0180 a0001c0001t0008g0207 a0001c0001t0008g0299 a0001c0005t0009g0250 a0001c0005t0030g0341 a0001c0015t0005g0312 a0001c0015t0009g0248 a0001c0019t0002g0171 a0001c0030t0004g0316 a0002c0002t0002g0078 a0002c0002t0002g0086 a0002c0002t0007g0087 a0002c0002t0007g0100 a0002c0002t0007g0108 a0002c0002t0008g0088 a0002c0002t0008g0089 a0002c0002t0008g0361 a0003c0004t0004g0156 a0003c0006t0005g0123 a0003c0006t0005g0131	42	418	0.1005	-28	c.128 others(45): Show c.1282-724_1282-697delCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CHAT	ENSG00000070748.19	transcript	ENST00000337653.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
CHCHD6_chr3_126699240_126965420	126938746	AGGCTCCC others(21): Show AGGCTCCCTCAGGACTGAGGGGGCTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01255.hp1 HG02004.hp1 others(25): Show HG00408.hp2 HG01255.hp1 HG02004.hp1 HG02015.hp2 HG02080.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp1 HG02738.hp2 HG02809.hp1 HG03704.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp2 NA19000.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19068.hp2 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0003 others(25): Show a0001c0001t0001g0141 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0074 a0002c0002t0002g0094	28	216	0.1296	-28	c.567 others(47): Show c.567-18662_567-18635delTCAGGACTGAGGGGGCTGTGTGGCTC CC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD9NB_chr16_53036484_53057897	53050595	AACACCTG others(21): Show AACACCTGACAGGGTTTGCAGGTACAATC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0188 a0001c0001t0050g0188	1	406	0.0025	-28	c.-18 others(47): Show c.-185+2138_-185+2165delGATTGTACCTGCAAACCCTGTCAGGT GT	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding	1/2			chr16	TogoVar
CHD9_chr16_53049991_53332497	53171833	CACACACA others(21): Show CACACACACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	238	0.0042	-28	c.145 others(49): Show c.1452+14320_1452+14347delGACACACACACACACACACACACA CACA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	2/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53217912	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02970.hp1 others(6): Show HG02257.hp2 HG02622.hp2 HG02970.hp1 HG03688.hp2 HG04184.hp2 NA18981.hp2 NA19068.hp1 NA19088.hp1 NA19240.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0018 a0001c0005 a0009c0018	a0001c0005t0005 a0001c0005t0011 a0009c0018t0005 a0001c0005t0005 a0001c0005t0011 a0009c0018t0005	a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0032 others(6): Show a0001c0005t0005g0017 a0001c0005t0005g0018 a0001c0005t0005g0032 a0001c0005t0005g0061 a0001c0005t0005g0089 a0001c0005t0005g0135 a0001c0005t0005g0151 a0001c0005t0011g0228 a0009c0018t0005g0155	9	238	0.0378	-28	c.178 others(47): Show c.1785-4712_1785-4685delCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHFR_chr12_132827356_132892605	132830416	GATCAAGA others(21): Show GATCAAGACTATCCTGGCCAACATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02004.hp2 HG02027.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02602.hp1 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18977.hp2 NA18979.hp1 NA18985.hp2 NA18991.hp1 NA18992.hp2 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19010.hp1 NA19055.hp1 NA19065.hp1 NA19077.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0001c0015 a0001c0016 others(2): Show a0001c0004 a0001c0015 a0001c0016 a0003c0003 a0003c0008	a0001c0004t0003 a0001c0004t0007 a0001c0004t0017 others(26): Show a0001c0004t0003 a0001c0004t0007 a0001c0004t0017 a0001c0004t0022 a0001c0004t0034 a0001c0004t0035 a0001c0004t0036 a0001c0004t0056 a0001c0004t0057 a0001c0004t0058 a0001c0004t0059 a0001c0004t0060 a0001c0015t0003 a0001c0016t0017 a0003c0003t0001 a0003c0003t0013 a0003c0003t0019 a0003c0003t0020 a0003c0003t0037 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0064 a0003c0003t0065 a0003c0003t0066 a0003c0003t0067 a0003c0003t0068 a0003c0003t0069 a0003c0008t0019	a0001c0004t0003g0003 a0001c0004t0003g0011 a0001c0004t0003g0188 others(97): Show a0001c0004t0003g0003 a0001c0004t0003g0011 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0190 a0001c0004t0003g0191 a0001c0004t0003g0194 a0001c0004t0003g0197 a0001c0004t0003g0198 a0001c0004t0003g0199 a0001c0004t0003g0200 a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0204 a0001c0004t0003g0225 a0001c0004t0003g0226 a0001c0004t0003g0227 a0001c0004t0003g0228 a0001c0004t0003g0231 a0001c0004t0007g0012 a0001c0004t0007g0215 a0001c0004t0007g0216 a0001c0004t0007g0217 a0001c0004t0007g0218 a0001c0004t0007g0219 a0001c0004t0007g0224 a0001c0004t0017g0220 a0001c0004t0017g0221 a0001c0004t0017g0222 a0001c0004t0022g0193 a0001c0004t0022g0203 a0001c0004t0022g0229 a0001c0004t0034g0195 a0001c0004t0034g0196 a0001c0004t0035g0210 a0001c0004t0035g0213 a0001c0004t0036g0206 a0001c0004t0036g0207 a0001c0004t0056g0211 a0001c0004t0057g0214 a0001c0004t0058g0187 a0001c0004t0059g0192 a0001c0004t0060g0230 a0001c0015t0003g0205 a0001c0016t0017g0223 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0337 a0003c0003t0001g0339 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0003c0003t0001g0356 a0003c0003t0013g0021 a0003c0003t0013g0022 a0003c0003t0013g0024 a0003c0003t0013g0025 a0003c0003t0013g0026 a0003c0003t0013g0027 a0003c0003t0019g0346 a0003c0003t0019g0351 a0003c0003t0020g0319 a0003c0003t0020g0320 a0003c0003t0020g0322 a0003c0003t0020g0324 a0003c0003t0037g0347 a0003c0003t0037g0348 a0003c0003t0061g0020 a0003c0003t0062g0029 a0003c0003t0063g0345 a0003c0003t0064g0028 a0003c0003t0065g0023 a0003c0003t0066g0338 a0003c0003t0067g0336 a0003c0003t0068g0321 a0003c0003t0069g0323 a0003c0008t0019g0349 a0003c0008t0019g0350	104	378	0.2751	-28	c.11 others(41): Show c.11110_*11137delTCACCATGTTGGCCAGGATAGTCTTGAT	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding		1939		chr12	TogoVar
CHGB_chr20_5906510_5930353	5926064	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02135.hp2 HG02155.hp2 others(21): Show HG00597.hp2 HG02135.hp2 HG02155.hp2 HG03834.hp2 HG03942.hp1 NA18612.hp2 NA18952.hp2 NA18964.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18995.hp1 NA19002.hp2 NA19055.hp1 NA19058.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp1 NA19091.hp1	a0003 a0015 a0003 a0015	a0003c0003 a0015c0013 a0003c0003 a0015c0013	a0003c0003t0003 a0015c0013t0003 a0003c0003t0003 a0015c0013t0003	a0003c0003t0003g0015 a0003c0003t0003g0017 a0003c0003t0003g0020 others(11): Show a0003c0003t0003g0015 a0003c0003t0003g0017 a0003c0003t0003g0020 a0003c0003t0003g0021 a0003c0003t0003g0025 a0003c0003t0003g0035 a0003c0003t0003g0062 a0003c0003t0003g0063 a0003c0003t0003g0066 a0003c0003t0003g0070 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0075 a0015c0013t0003g0020	24	440	0.0546	-28	c.10 others(39): Show c.1016_*1043delAAAAATATATATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		712		chr20	TogoVar
CHGB_chr20_5906510_5930353	5926096	TATATACA others(21): Show TATATACATATATATATATATATATATAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0023 a0011c0011t0001g0023	1	440	0.0023	-28	c.10 others(39): Show c.1048_*1075delATATACATATATATATATATATATATAG	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		744		chr20	TogoVar
CHKA_chr11_68047859_68126388	68125912	GCGCGCGC others(21): Show GCGCGCGCACACACACACACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01081.hp2 others(11): Show HG00423.hp1 HG00438.hp1 HG01081.hp2 HG01175.hp1 HG01978.hp2 HG01981.hp1 HG02080.hp2 HG02132.hp1 HG02155.hp2 NA18950.hp1 NA18952.hp2 NA18998.hp1 NA19011.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0169 a0001c0001t0001g0184 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0050 a0001c0001t0002g0068	14	276	0.0507	-28	c.-47 others(39): Show c.-4763_-4736delTGTGTGTGTGTGTGTGTGTGTGCGCGCG	CHKA	ENSG00000110721.12	transcript	ENST00000265689.9	protein_coding		4525		chr11	TogoVar
CHMP7_chr8_23238637_23266999	23250620	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01346.hp2 others(3): Show HG00735.hp1 HG01106.hp1 HG01346.hp2 HG03239.hp1 HG04204.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0005 a0001c0001t0026	a0001c0001t0005g0021 a0001c0001t0005g0314 a0001c0001t0005g0315 others(1): Show a0001c0001t0005g0021 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0026g0316	6	438	0.0137	-28	c.471 others(45): Show c.471+1257_471+1284delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHM_chrX_85856180_86052558	85964393	CACCTAAA others(21): Show CACCTAAATTACCCTCAATTTAGGTAATT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0078 a0001c0001t0019g0078	1	245	0.0041	-28	c.315 others(43): Show c.315-369_315-342delAATTACCTAAATTGAGGGTAATTTAGGT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	4/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174818607	ATTTTTAT others(21): Show ATTTTTATGTTACTATTAAACCACATTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG01891.hp1 others(27): Show HG00735.hp2 HG01496.hp2 HG01891.hp1 HG02055.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0001 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 others(27): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0172 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0016g0267	30	276	0.1087	-28	c.712 others(45): Show c.712+5799_712+5826delAAAATGTGGTTTAATAGTAACATAAAAA	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	8/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29273326	CATATATA others(21): Show CATATATATATATATGTGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	232	0.0043	-28	c.49+ others(45): Show c.49+78351_49+78378delGTGTATATATATATATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29273362	TATATATA others(21): Show TATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02280.hp2 HG02451.hp1 others(19): Show HG01496.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02896.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG06807.hp1 NA18906.hp1 NA18942.hp2 NA19030.hp1 NA19074.hp2 NA19079.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0028 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0014 a0001c0002t0020 a0001c0002t0025 a0001c0005t0001 a0002c0003t0002 a0002c0003t0004 a0003c0007t0013	a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0192 others(19): Show a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0192 a0001c0001t0003g0058 a0001c0001t0003g0143 a0001c0001t0005g0174 a0001c0001t0006g0036 a0001c0001t0006g0153 a0001c0001t0006g0162 a0001c0001t0028g0050 a0001c0002t0004g0169 a0001c0002t0007g0152 a0001c0002t0010g0210 a0001c0002t0010g0220 a0001c0002t0014g0102 a0001c0002t0020g0052 a0001c0002t0025g0024 a0001c0005t0001g0051 a0001c0005t0001g0137 a0002c0003t0002g0154 a0002c0003t0004g0099 a0003c0007t0013g0135	22	232	0.0948	-28	c.49+ others(45): Show c.49+78374_49+78401delTATATATATATATATATATATATATACA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29421200	ATTTCTCT others(21): Show ATTTCTCTTGCCCAGCACCAGAGGTTGAT	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	232	0.0043	-28	c.576 others(47): Show c.576+20373_576+20400delTTTCTCTTGCCCAGCACCAGAGGTTG AT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12			chr7	TogoVar
CHRDL1_chrX_110668856_110800817	110669050	TTTTATAT others(21): Show TTTTATATATATATATATTTATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG03041.hp1 others(2): Show HG02280.hp1 HG02809.hp1 HG03041.hp1 HG03710.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0021 a0001c0002t0003 a0001c0002t0004 a0001c0002t0021	a0001c0002t0003g0018 a0001c0002t0004g0153 a0001c0002t0004g0159 others(2): Show a0001c0002t0003g0018 a0001c0002t0004g0153 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0021g0019	5	172	0.0291	-28	c.71 others(39): Show c.7153_*7180delTATATATATAAATATATATATATATAAA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4805		chrX	TogoVar
CHRDL1_chrX_110668856_110800817	110669080	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0140 a0001c0001t0038g0140	1	172	0.0058	-28	c.71 others(39): Show c.7123_*7150delTATATATATATATATATATATATATATA	CHRDL1	ENSG00000101938.15	transcript	ENST00000372042.6	protein_coding		4775		chrX	TogoVar
CHRM2_chr7_136863652_137025213	136938915	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG00735.hp2 others(34): Show HG00099.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01943.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02559.hp1 HG02896.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18946.hp1 NA18954.hp1 NA18956.hp1 NA18973.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18995.hp1 NA19043.hp1 NA19075.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0031 a0001c0001t0036 a0001c0001t0041 a0001c0001t0050 a0001c0001t0061 a0001c0001t0066	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(34): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0284 a0001c0001t0002g0092 a0001c0001t0004g0075 a0001c0001t0006g0243 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0006g0278 a0001c0001t0007g0088 a0001c0001t0007g0132 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0001t0007g0302 a0001c0001t0007g0305 a0001c0001t0007g0316 a0001c0001t0008g0072 a0001c0001t0008g0073 a0001c0001t0008g0074 a0001c0001t0008g0084 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0089 a0001c0001t0008g0091 a0001c0001t0008g0131 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0031g0010 a0001c0001t0036g0059 a0001c0001t0041g0318 a0001c0001t0050g0085 a0001c0001t0061g0155 a0001c0001t0066g0044	37	320	0.1156	-28	c.-12 others(49): Show c.-124-53251_-124-53224delAAAAAAAAAAAAAAAAAAAAAAAA AAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM2_chr7_136863652_137025213	137003473	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG02809.hp2 others(2): Show HG02615.hp2 HG02723.hp1 HG02809.hp2 HG02976.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0038 a0001c0001t0047 a0001c0001t0018 a0001c0001t0038 a0001c0001t0047	a0001c0001t0018g0041 a0001c0001t0018g0217 a0001c0001t0018g0311 others(2): Show a0001c0001t0018g0041 a0001c0001t0018g0217 a0001c0001t0018g0311 a0001c0001t0038g0009 a0001c0001t0047g0122	5	320	0.0156	-28	c.-47 others(47): Show c.-47+11246_-47+11273delACACACACACACACACACACACACAC AC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239383393	TTCTTTCT others(21): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG03831.hp2 HG01261.hp1 HG01496.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0047 a0001c0001t0002 a0001c0001t0008 a0001c0001t0047	a0001c0001t0002g0069 a0001c0001t0008g0072 a0001c0001t0047g0070 a0001c0001t0002g0069 a0001c0001t0008g0072 a0001c0001t0047g0070	3	116	0.0259	-28	c.-43 others(39): Show c.-4354_-4327delTCTTTCTTTCTTTCTTTCTTTCTTTCTC	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding		3174		chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404384	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0111 a0001c0001t0009g0111	1	116	0.0086	-28	c.-52 others(49): Show c.-521+17159_-521+17186delAAGAAAGAAAGAAAGAAAGAAAGA AAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404392	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	116	0.0086	-28	c.-52 others(49): Show c.-521+17167_-521+17194delAAGAAAGAAAGAAAGAAAAAGAAA GAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404400	GAAAGAAA others(21): Show GAAAGAAAGAAAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18943.hp2 HG00438.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0009 a0001c0001t0032g0086 a0001c0001t0001g0009 a0001c0001t0032g0086	2	116	0.0172	-28	c.-52 others(49): Show c.-521+17175_-521+17202delAAGAAAGAAAAAGAAAGAAAGAAA GAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404404	GAAAGAAA others(21): Show GAAAGAAAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	116	0.0086	-28	c.-52 others(49): Show c.-521+17179_-521+17206delAAGAAAAAGAAAGAAAGAAAGAAA GAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404406	AAGAAAAA others(21): Show AAGAAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19030.hp2 HG01346.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0035 a0001c0001t0003 a0001c0001t0035	a0001c0001t0003g0047 a0001c0001t0035g0026 a0001c0001t0003g0047 a0001c0001t0035g0026	2	116	0.0172	-28	c.-52 others(49): Show c.-521+17181_-521+17208delGAAAAAGAAAGAAAGAAAGAAAGA AAGA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRM3_chr1_239381568_239920450	239404410	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01433.hp2 HG03139.hp1 others(1): Show HG00738.hp2 HG01433.hp2 HG03139.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0020 a0001c0001t0043 others(1): Show a0001c0001t0017 a0001c0001t0020 a0001c0001t0043 a0001c0001t0045	a0001c0001t0017g0004 a0001c0001t0020g0021 a0001c0001t0043g0046 others(1): Show a0001c0001t0017g0004 a0001c0001t0020g0021 a0001c0001t0043g0046 a0001c0001t0045g0014	4	116	0.0345	-28	c.-52 others(49): Show c.-521+17215_-521+17242delGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CHRNA10_chr11_3660587_3676384	3663071	ATCTCATC others(21): Show ATCTCATCATCTCATCTCATCATCTCATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02886.hp2 HG02280.hp1 HG02559.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	3	450	0.0067	-28	c.30 others(39): Show c.3008_*3035delGATGAGATGATGAGATGAGATGATGAGA	CHRNA10	ENSG00000129749.3	transcript	ENST00000250699.2	protein_coding		2515		chr11	TogoVar
CHRNA1_chr2_174742592_174769472	174752450	GTCCCAGC others(21): Show GTCCCAGCTACTCAGGAGGCTGAGGTGAA	G G	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	370	0.0027	-28	c.778 others(45): Show c.778+1025_778+1052delTTCACCTCAGCCTCCTGAGTAGCTGGGA	CHRNA1	ENSG00000138435.16	transcript	ENST00000348749.9	protein_coding	6/8			chr2	TogoVar
CHRNA4_chr20_63338223_63366349	63339675	GTGAATTA others(21): Show GTGAATTACATCATATCCACACAGATGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02896.hp2 HG03041.hp2 others(1): Show HG02451.hp1 HG02896.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0002t0001 a0001c0003t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0002	a0001c0001t0004g0005 a0001c0002t0001g0058 a0001c0003t0002g0027 a0001c0001t0004g0005 a0001c0002t0001g0058 a0001c0003t0002g0027	4	168	0.0238	-28	c.70 others(39): Show c.7035_*7062delTTCATCTGTGTGGATATGATGTAATTCA	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		3547		chr20	TogoVar
CHST8_chr19_33616953_33778506	33650495	CTTTTTCT others(21): Show CTTTTTCTTTTTCTTTTTCTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	254	0.0039	-28	c.-16 others(49): Show c.-163-17266_-163-17239delCTTTTTCTTTTTCTTTTCTTTTTT TTTT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33694169	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01496.hp2 others(1): Show HG00099.hp1 HG00738.hp2 HG01496.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0229	4	254	0.0158	-28	c.130 others(45): Show c.130+4802_130+4829delTATATATATATATATATATATATATATA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 homoSapiens_chm13v2.hp1 HG01243.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0226 a0001c0001t0001g0122 a0001c0001t0001g0226	2	254	0.0079	-28	c.131 others(47): Show c.131-13917_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	130143756	ATGTGTGT others(21): Show ATGTGTGTGTGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02155.hp2 HG00741.hp2 HG02155.hp2	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0004 a0003c0006t0003 a0003c0004t0004 a0003c0006t0003	a0003c0004t0004g0238 a0003c0006t0003g0026 a0003c0004t0004g0238 a0003c0006t0003g0026	2	276	0.0073	-28	c.108 others(49): Show c.1087-40471_1087-40444delGTGTGTGTGTGTATATATATATAT GTGT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CILK1_chr6_52996303_53066824	53017787	GAAAGGGG others(21): Show GAAAGGGGAGCAAGAGAAAGACAGAAGGT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0117 a0001c0002t0021g0117	1	244	0.0041	-28	c.663 others(43): Show c.663+515_663+542delACCTTCTGTCTTTCTCTTGCTCCCCTTT	CILK1	ENSG00000112144.16	transcript	ENST00000676107.1	protein_coding	7/13			chr6	TogoVar
CIR1_chr2_174343022_174400712	174369168	CTGGAGAA others(21): Show CTGGAGAACTTGCTGCAGCTTCTACATCA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	348	0.0029	-28	c.484 others(45): Show c.484+9727_484+9754delTGATGTAGAAGCTGCAGCAAGTTCTCCA	CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9			chr2	TogoVar
CLASP2_chr3_33491245_33723254	33708496	ATATATAT others(21): Show ATATATATATGTATATATATGTATATATG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	278	0.0036	-28	c.195 others(45): Show c.195+9284_195+9311delCATATATACATATATATACATATATATA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding	1/38			chr3	TogoVar
CLASP2_chr3_33491245_33723254	33720631	GTGCAGTA others(21): Show GTGCAGTATGTGGTATAGAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	278	0.0036	-28	c.-26 others(39): Show c.-2657_-2630delTTTTTTTTTTTCTATACCACATACTGCA	CLASP2	ENSG00000163539.19	transcript	ENST00000682230.1	protein_coding		2378		chr3	TogoVar
CLCN3_chr4_169615578_169728673	169663129	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA20300.hp2 HG03579.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0045 a0001c0001t0033 a0001c0001t0045	a0001c0001t0033g0279 a0001c0001t0045g0280 a0001c0001t0033g0279 a0001c0001t0045g0280	2	288	0.0069	-28	c.161 others(47): Show c.161-16908_161-16881delTGTGTGTGTATATATATGTGTGTGTG TG	CLCN3	ENSG00000109572.16	transcript	ENST00000513761.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
CLCNKA_chr1_16017036_16039050	16037991	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02280.hp2 others(6): Show HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02717.hp1 HG02922.hp2 HG03139.hp2 HG03209.hp2 HG03516.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0004c0017 a0001c0001 a0004c0004 a0004c0017	a0001c0001t0001 a0004c0004t0003 a0004c0017t0003 a0001c0001t0001 a0004c0004t0003 a0004c0017t0003	a0001c0001t0001g0010 a0001c0001t0001g0028 a0004c0004t0003g0040 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0004c0004t0003g0040 a0004c0017t0003g0004	9	392	0.0230	-28	c.43 others(39): Show c.4334_*4361delACACACACACACACACACACACACACAC	CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding		3942		chr1	TogoVar
CLDN34_chrX_9962358_9973352	9964279	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02293.hp2 NA19030.hp1 others(1): Show HG02015.hp1 HG02293.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	4	330	0.0121	-28	c.-30 others(39): Show c.-3078_-3051delCCTTCCTTCCTTCCTTCCTTCCTTCCTT	CLDN34	ENSG00000234469.4	transcript	ENST00000445307.4	protein_coding		3078		chrX	TogoVar
CLDN8_chr21_30209006_30221097	30210272	CGTATGTG others(21): Show CGTATGTGTATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-28	c.49 others(39): Show c.4948_*4975delATATATATATATATATATATACACATAC	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3733		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210277	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	-28	c.49 others(39): Show c.4943_*4970delTATATATATATATATATATATATATACA	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3728		chr21	TogoVar
CLEC17A_chr19_14578084_14617035	14586925	GTCACTCA others(21): Show GTCACTCAGGCTGGAGTGCAGTGGCATGA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03710.hp2 HG04115.hp2 others(1): Show HG03490.hp1 HG03710.hp2 HG04115.hp2 HG04204.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0007c0006t0007	a0001c0001t0003g0341 a0001c0001t0009g0344 a0001c0001t0015g0342 others(1): Show a0001c0001t0003g0341 a0001c0001t0009g0344 a0001c0001t0015g0342 a0007c0006t0007g0343	4	364	0.0110	-28	c.122 others(43): Show c.122-686_122-659delACTCAGGCTGGAGTGCAGTGGCATGATC	CLEC17A	ENSG00000187912.12	transcript	ENST00000417570.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLEC1A_chr12_10064554_10103985	10087472	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	384	0.0026	-28	c.214 others(45): Show c.214+1624_214+1651delTATATATATATATATATATATATATATA	CLEC1A	ENSG00000150048.10	transcript	ENST00000315330.8	protein_coding	2/5			chr12	TogoVar
CLEC7A_chr12_10111777_10135199	10115912	CTTTTCTG others(21): Show CTTTTCTGTCTCTTGGAAAAGTGTGGATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01496.hp1 HG01981.hp2 others(11): Show HG01175.hp1 HG01496.hp1 HG01981.hp2 HG02015.hp1 HG02056.hp1 HG02145.hp2 HG02148.hp2 HG02622.hp1 HG02976.hp2 HG03041.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0026 a0002c0002t0011 a0002c0002t0031	a0001c0001t0002g0003 a0001c0001t0003g0194 a0001c0001t0016g0070 others(10): Show a0001c0001t0002g0003 a0001c0001t0003g0194 a0001c0001t0016g0070 a0001c0001t0016g0071 a0001c0001t0016g0072 a0001c0001t0016g0073 a0001c0001t0026g0087 a0002c0002t0011g0063 a0002c0002t0011g0135 a0002c0002t0011g0136 a0002c0002t0011g0185 a0002c0002t0011g0186 a0002c0002t0031g0211	14	450	0.0311	-28	c.25 others(39): Show c.2518_*2545delCATCCACACTTTTCCAAGAGACAGAAAA	CLEC7A	ENSG00000172243.18	transcript	ENST00000304084.13	protein_coding		864		chr12	TogoVar
CLIC3_chr9_136989608_137001568	136992100	CCTCTGGA others(21): Show CCTCTGGATCCCTGACCCAGGACGCCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02300.hp2 HG02559.hp2 others(8): Show HG00639.hp1 HG02300.hp2 HG02559.hp2 HG02683.hp1 HG02809.hp1 HG03688.hp2 NA18954.hp2 NA18979.hp2 NA18990.hp1 NA19056.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	11	398	0.0276	-28	c.25 others(39): Show c.2553_*2580delCAGGGCGTCCTGGGTCAGGGATCCAGAG	CLIC3	ENSG00000169583.13	transcript	ENST00000494426.2	protein_coding		2507		chr9	TogoVar
CLIC5_chr6_45893456_46020860	45958422	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0015 a0006c0006t0015	a0006c0006t0015g0308 a0006c0006t0015g0308	1	340	0.0029	-28	c.64- others(43): Show c.64-3206_64-3179delTATATATATATATATATATATATATATA	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIC5_chr6_45893456_46020860	46006099	TATATATA others(21): Show TATATATATATATACACATGTATAAATAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG02647.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0042 a0001c0001t0035 a0001c0001t0042	a0001c0001t0035g0062 a0001c0001t0042g0008 a0001c0001t0035g0062 a0001c0001t0042g0008	2	340	0.0059	-28	c.63+ others(43): Show c.63+9353_63+9380delGTATTTATACATGTGTATATATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLIP1_chr12_122266469_122427669	122387566	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01517.hp1 others(3): Show HG00323.hp2 HG01167.hp1 HG01517.hp1 NA18974.hp2 NA19068.hp1 NA19086.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0013 a0001c0001 a0005c0013	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0005c0013t0003	a0001c0001t0003g0065 a0001c0001t0003g0081 a0001c0001t0008g0074 others(3): Show a0001c0001t0003g0065 a0001c0001t0003g0081 a0001c0001t0008g0074 a0001c0001t0008g0078 a0001c0001t0015g0072 a0005c0013t0003g0067	6	234	0.0256	-28	c.-10 others(47): Show c.-106-7036_-106-7009delAAAATATATATATATATATATATATA TA	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLIP2_chr7_74284407_74410935	74349468	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0213 a0001c0002t0001g0118 a0001c0002t0001g0213	2	278	0.0072	-28	c.679 others(45): Show c.679-4410_679-4383delGTATATATATATATATATATATATATAT	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)