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
BAIAP2_chr17_81030151_81122434	81054101	AGGGTGGG others(41): Show AGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGACCCCGTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0368 a0001c0001t0003g0368	1	376	0.0027	-48	c.130 others(63): Show c.130+399_130+446delACCCCGTGGGGTGGGAGCTGCCTCCTGAGC TGGTAGAACTGTGCCCGG	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	CTTCTGCT others(41): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	376	0.0027	-48	c.131 others(63): Show c.131-986_131-939delGCTGTTGCGTTTTTCTGCTGTTGCGTTTTT CTGCTGTTGCGTTTTTCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BATF2_chr11_64982945_65001971	64983512	TTATTTTA others(41): Show TTATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG02615.hp1 HG03041.hp2 others(1): Show HG00738.hp2 HG02615.hp1 HG03041.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0008g0035 a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0008g0035	4	404	0.0099	-48	c.55 others(59): Show c.5569_*5616delTAAAATAAAATATAAAATAAAATATAAAATAAAA TATAAAATAAAATA	BATF2	ENSG00000168062.10	transcript	ENST00000301887.9	protein_coding		4432		chr11	TogoVar
BBS4_chr15_72681207_72743473	72725897	CCCCATCC others(41): Show CCCCATCCCCCTTTCCCCATCCCCCTTCCCCCTTTCCCCTTCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0288 a0002c0002t0001g0288	1	398	0.0025	-48	c.587 others(65): Show c.587+1246_587+1293delATCCCCCTTTCCCCATCCCCCTTCCCCC TTTCCCCTTCCCCCTTTCCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS5_chr2_169474494_169511655	169505978	CAGCCGCC others(41): Show CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGATCAGCCCCCCGCCCGGCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0161 a0001c0001t0045g0161	1	398	0.0025	-48	c.14 others(59): Show c.1416_*1463delGAGGTGGGGGATCAGCCCCCCGCCCGGCTAGCCG CCCCGTCCGGGAGG	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	12/12	1416	INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467525	ATGGTGAT others(41): Show ATGGTGATGGTGATGGTACTGGTGATGGTGGTGGTGGTAGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0213 a0001c0001t0012g0213	1	262	0.0038	-48	c.487 others(65): Show c.487+1159_487+1206delCCACCATCACTACCACCACCACCATCAC CAGTACCATCACCATCACCA	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BCL11A_chr2_60452194_60558654	60507213	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	262	0.0038	-48	c.386 others(67): Show c.386-38428_386-38381delCTCCCCTCCCCTCCCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BCL2_chr18_63118346_63324769	63169248	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	264	0.0038	-48	c.586 others(67): Show c.586-40537_586-40490delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCLAF3_chrX_19907860_19996061	19995628	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAGGGAGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG02630.hp1 HG02922.hp2 others(3): Show HG01106.hp1 HG02630.hp1 HG02922.hp2 HG03195.hp1 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0040 a0001c0001t0045 a0001c0001t0005 a0001c0001t0040 a0001c0001t0045	a0001c0001t0005g0064 a0001c0001t0005g0066 a0001c0001t0005g0067 others(3): Show a0001c0001t0005g0064 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0040g0072 a0001c0001t0045g0088	6	207	0.0290	-48	c.-48 others(59): Show c.-4803_-4756delCTCCCTCCCTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	BCLAF3	ENSG00000173681.17	transcript	ENST00000379682.9	protein_coding		4568		chrX	TogoVar
BDP1_chr5_71450651_71572820	71525593	CCCCCCAA others(41): Show CCCCCCAACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19006.hp1 HG01192.hp1 NA19006.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0002 a0007c0006t0002 a0001c0001t0002 a0007c0006t0002	a0001c0001t0002g0059 a0007c0006t0002g0079 a0001c0001t0002g0059 a0007c0006t0002g0079	2	325	0.0062	-48	c.577 others(67): Show c.5772+1276_5772+1323delAACCTCCTTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCC	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding	25/38		INFO_REALIGN_3_PRIME	chr5	TogoVar
BEND3_chr6_107060182_107120515	107073197	GTATGTAT others(41): Show GTATGTATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02615.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0047 a0001c0001t0013 a0001c0004t0047	a0001c0001t0013g0041 a0001c0004t0047g0174 a0001c0001t0013g0041 a0001c0004t0047g0174	2	368	0.0054	-48	c.241 others(65): Show c.241-2295_241-2248delTATATATATATATATATATATATATATA TATATATATATATATACATA	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BFSP1_chr20_17488905_17536379	17517395	TGCCTCAG others(41): Show TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACACCACCACGCC	T T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0326 a0002c0001t0002g0326	1	396	0.0025	-48	c.439 others(65): Show c.439-2627_439-2580delGGCGTGGTGGTGTGCACCTGTAGTCCCA GCTACTTGGGAGGCTGAGGC	BFSP1	ENSG00000125864.14	transcript	ENST00000377873.8	protein_coding	2/7			chr20	TogoVar
BICC1_chr10_58507872_58836435	58732371	GTGTGTAT others(41): Show GTGTGTATGTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp2 HG02922.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0016 a0002c0003t0016	a0002c0003t0016g0061 a0002c0003t0016g0062 a0002c0003t0016g0061 a0002c0003t0016g0062	2	132	0.0152	-48	c.307 others(67): Show c.307+30230_307+30277delGTGTATGTATATATATATATATATAT ATATATATATATATATATATAT	BICC1	ENSG00000122870.12	transcript	ENST00000373886.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
BID_chr22_17729138_17779469	17756428	CTTTCTTC others(41): Show CTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(173): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001 a0001c0003t0004 a0001c0006t0002 a0001c0006t0011 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(168): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0326 a0001c0001t0001g0332 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0002g0054 a0001c0001t0002g0179 a0001c0001t0002g0255 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0125 a0001c0001t0005g0005 a0001c0001t0005g0208 a0001c0001t0007g0195 a0001c0001t0007g0256 a0001c0001t0007g0288 a0001c0001t0010g0104 a0001c0001t0010g0192 a0001c0003t0001g0083 a0001c0003t0001g0251 a0001c0003t0004g0157 a0001c0003t0004g0198 a0001c0003t0004g0216 a0001c0006t0002g0275 a0001c0006t0011g0197 a0001c0007t0001g0050 a0002c0002t0001g0017 a0002c0002t0002g0001 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0047 a0002c0002t0002g0052 a0002c0002t0002g0056 a0002c0002t0002g0089 a0002c0002t0002g0136 a0002c0002t0002g0156 a0002c0002t0002g0250 a0002c0002t0002g0258 a0002c0002t0002g0259	176	362	0.4862	-48	c.-58 others(65): Show c.-58-6302_-58-6255delAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAGAAA	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIRC6_chr2_32352023_32623878	32548317	TTTTTTTT others(41): Show TTTTTTTTTTTTTAAGTGTTATTTATTTATATGCATTTTGGTTGCTTAC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	274	0.0037	-48	c.129 others(67): Show c.12975+316_12975+363delAAGTGTTATTTATTTATATGCATTTT GGTTGCTTACTTTTTTTTTTTT	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	64/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLK_chr8_11489387_11569599	11560151	GTGGGTGG others(41): Show GTGGGTGGGTGGGTGGGTGGATGGATGGATGCATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02683.hp1 others(11): Show HG01891.hp2 HG02486.hp1 HG02683.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0008 a0005c0013	a0001c0001t0015 a0001c0002t0012 a0001c0004t0009 others(4): Show a0001c0001t0015 a0001c0002t0012 a0001c0004t0009 a0001c0005t0009 a0001c0005t0010 a0003c0008t0012 a0005c0013t0010	a0001c0001t0015g0073 a0001c0002t0012g0250 a0001c0004t0009g0207 others(10): Show a0001c0001t0015g0073 a0001c0002t0012g0250 a0001c0004t0009g0207 a0001c0005t0009g0119 a0001c0005t0009g0242 a0001c0005t0009g0243 a0001c0005t0009g0244 a0001c0005t0010g0005 a0001c0005t0010g0117 a0003c0008t0012g0091 a0003c0008t0012g0092 a0003c0008t0012g0093 a0005c0013t0010g0118	14	308	0.0455	-48	c.103 others(67): Show c.1030-1147_1030-1100delGTGGGTGGGTGGGTGGATGGATGGAT GCATGGATGGATGGATGGATGG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMAL1_chr11_13272790_13392266	13284150	ATATATAT others(41): Show ATATATATATGTGTGTATATATATATATGTGTATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	314	0.0032	-48	c.-26 others(67): Show c.-263+6237_-263+6284delGTGTGTATATATATATATGTGTATAT ATATATATGTGTGTATATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13284186	ATATATAT others(41): Show ATATATATGTGTGTATATATATATGTGTATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp2 HG02572.hp2 others(5): Show HG00639.hp1 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG03098.hp2 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0296 a0001c0001t0001g0297 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301	8	314	0.0255	-48	c.-26 others(67): Show c.-263+6271_-263+6318delGTGTGTATATATATATGTGTATATAT ATATATATGTGTGTGTATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMP2K_chr4_78771350_78921365	78829015	AATAACTC others(41): Show AATAACTCCCACATGCTTAGCGTTCCAATAATGGGACACTGGGTATAAG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0162 a0002c0002t0002g0162	1	204	0.0049	-48	c.297 others(65): Show c.297+2861_297+2908delATAACTCCCACATGCTTAGCGTTCCAAT AATGGGACACTGGGTATAAG	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15			chr4	TogoVar
BMPR2_chr2_202371327_202572749	202534906	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	224	0.0045	-48	c.127 others(67): Show c.1276+2181_1276+2228delACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BNIP5_chr6_36310761_36341888	36324575	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	424	0.0024	-48	c.116 others(65): Show c.1169-433_1169-386delTATATATATATATATATATATATATATA TATATATATATATATATATA	BNIP5	ENSG00000189325.7	transcript	ENST00000437635.3	protein_coding	6/11			chr6	TogoVar
BPIFC_chr22_32408845_32469446	32424596	TTCTTCTC others(41): Show TTCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	422	0.0024	-48	c.121 others(67): Show c.1218-5240_1218-5193delGAGAAGAAGAAGAAGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGAAGA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
BPTF_chr17_67820503_67989378	67843166	ATAGATAC others(41): Show ATAGATACATATAGATATCTACATACATCTACATACATGTAGATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp2 HG00741.hp1 others(17): Show HG00597.hp2 HG00639.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01175.hp1 HG02486.hp2 HG02698.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 NA18939.hp1 NA18963.hp2 NA18966.hp1 NA18985.hp2 NA18986.hp1 NA19057.hp1 NA20905.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0017 a0001c0001 a0010c0017	a0001c0001t0001 a0010c0017t0001 a0001c0001t0001 a0010c0017t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(17): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0081 a0001c0001t0001g0150 a0010c0017t0001g0032	20	274	0.0730	-48	c.614 others(67): Show c.614-10767_614-10720delCATATAGATATCTACATACATCTACA TACATGTAGATGTATGTAGATA	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRAT1_chr7_2532810_2560524	2534203	ATCCCCCC others(41): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02451.hp2 others(1): Show HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0034 a0001c0002t0005g0035 a0001c0002t0005g0036 others(1): Show a0001c0002t0005g0034 a0001c0002t0005g0035 a0001c0002t0005g0036 a0001c0002t0005g0037	4	424	0.0094	-48	c.38 others(59): Show c.3818_*3865delCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGA	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		3606		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2534204	TCCCCCCA others(41): Show TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	424	0.0024	-48	c.38 others(59): Show c.3817_*3864delTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGG	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		3605		chr7	TogoVar
BRAT1_chr7_2532810_2560524	2534226	GGGGCGGC others(41): Show GGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02630.hp1 HG02717.hp1 others(4): Show HG02074.hp1 HG02630.hp1 HG02717.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03540.hp1	a0002 a0007 a0010 a0002 a0007 a0010	a0002c0004 a0007c0009 a0010c0018 a0002c0004 a0007c0009 a0010c0018	a0002c0004t0001 a0007c0009t0003 a0010c0018t0003 a0002c0004t0001 a0007c0009t0003 a0010c0018t0003	a0002c0004t0001g0374 a0007c0009t0003g0003 a0007c0009t0003g0093 others(2): Show a0002c0004t0001g0374 a0007c0009t0003g0003 a0007c0009t0003g0093 a0007c0009t0003g0094 a0010c0018t0003g0097	7	424	0.0165	-48	c.37 others(59): Show c.3795_*3842delAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGC CCAGCCAGCCGCCC	BRAT1	ENSG00000106009.16	transcript	ENST00000340611.9	protein_coding		3583		chr7	TogoVar
BRCA1_chr17_43039295_43130364	43100583	AACATATA others(41): Show AACATATATATATTATATATATATAACATATATATAACATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0242 a0004c0004t0001g0242	1	276	0.0036	-48	c.442 others(63): Show c.442-751_442-704delCATATATATATGTTATATATATGTTATATA TATATAATATATATATGT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRCA1_chr17_43039295_43130364	43100585	CATATATA others(41): Show CATATATATATTATATATATATAACATATATATAACATATATATATGTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01952.hp2 HG01167.hp1 HG01952.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0251 a0004c0004t0001g0252 a0004c0004t0001g0251 a0004c0004t0001g0252	2	276	0.0073	-48	c.442 others(63): Show c.442-753_442-706delAACATATATATATGTTATATATATGTTATA TATATATAATATATATAT	BRCA1	ENSG00000012048.25	transcript	ENST00000357654.9	protein_coding	6/22			chr17	TogoVar
BRI3_chr7_98276686_98296545	98279027	AGGGGCAT others(41): Show AGGGGCATTGCTGGGGCAAAAACAATTGTTGGAAGAGAAGGGGACCAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02922.hp1 HG03453.hp2 others(2): Show HG02630.hp2 HG02922.hp1 HG03453.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0077 a0001c0001t0001g0093 a0001c0001t0001g0025 a0001c0001t0001g0077 a0001c0001t0001g0093	5	414	0.0121	-48	c.-27 others(59): Show c.-2768_-2721delGGGGCATTGCTGGGGCAAAAACAATTGTTGGAAG AGAAGGGGACCAGG	BRI3	ENSG00000164713.10	transcript	ENST00000297290.4	protein_coding		2658		chr7	TogoVar
BRINP3_chr1_190092658_190482864	190203750	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp2 HG03130.hp2 others(1): Show HG02109.hp2 HG02970.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131	4	240	0.0167	-48	c.961 others(67): Show c.961+22284_961+22331delATATATATATATATATATATATATAT ATATATATATATATATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding	6/7			chr1	TogoVar
BRMS1L_chr14_35821338_35876963	35824662	CGGCTGGC others(41): Show CGGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGTCCGGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03471.hp1 HG02145.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0272 a0001c0001t0001g0046 a0001c0001t0001g0272	2	374	0.0054	-48	c.-18 others(59): Show c.-1854_-1807delGGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTC CCTCCCGTCCGGGA	BRMS1L	ENSG00000100916.14	transcript	ENST00000216807.12	protein_coding		1675		chr14	TogoVar
BRSK1_chr19_55278997_55317562	55308752	TGGGGGGC others(41): Show TGGGGGGCGTGGGTGGCGGGGGCCGTGGGTGGCGGGGGGCGTGGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG01346.hp2 others(11): Show HG00741.hp2 HG01255.hp1 HG01346.hp2 HG01884.hp2 HG01975.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03471.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0009 a0002c0003 a0001c0004 a0001c0009 a0002c0003	a0001c0004t0017 a0001c0009t0003 a0002c0003t0002 others(2): Show a0001c0004t0017 a0001c0009t0003 a0002c0003t0002 a0002c0003t0003 a0002c0003t0010	a0001c0004t0017g0045 a0001c0009t0003g0100 a0002c0003t0002g0006 others(9): Show a0001c0004t0017g0045 a0001c0009t0003g0100 a0002c0003t0002g0006 a0002c0003t0002g0019 a0002c0003t0002g0091 a0002c0003t0002g0145 a0002c0003t0002g0149 a0002c0003t0002g0150 a0002c0003t0002g0159 a0002c0003t0002g0256 a0002c0003t0003g0255 a0002c0003t0010g0019	14	338	0.0414	-48	c.217 others(63): Show c.2179+46_2179+93delCCGTGGGTGGCGGGGGGCGTGGGTGGCGGG GGGCGTGGGTGGCGGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK1_chr19_55278997_55317562	55308774	CCGTGGGT others(41): Show CCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGGCGTGGGTGGCGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02886.hp2 HG00735.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0250 a0001c0001t0002g0036 a0001c0001t0002g0250	2	338	0.0059	-48	c.217 others(64): Show c.2179+62_2179+109delGCGTGGGTGGCGGGGGGCGTGGGTGGCGG GGGGCGTGGGTGGCGGGGG	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	18/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
BRSK2_chr11_1384934_1467689	1417906	ACACTGTG others(41): Show ACACTGTGTCCTGCTTCTGTTGGCAGTTTCTTCTCTTGAGAGTGGTTCT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02258.hp1 HG01175.hp1 HG02258.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0015 a0001c0001t0006 a0002c0002t0015	a0001c0001t0006g0247 a0002c0002t0015g0330 a0001c0001t0006g0247 a0002c0002t0015g0330	2	360	0.0056	-48	c.92- others(65): Show c.92-18132_92-18085delACTGTGTCCTGCTTCTGTTGGCAGTTTC TTCTCTTGAGAGTGGTTCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BRSK2_chr11_1384934_1467689	1426241	CGGGGATG others(41): Show CGGGGATGTGTGTGGGGCGTGCTCCGGGGATGTGTGTGGGGCGTGCTCT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18975.hp1 NA18995.hp1 NA18966.hp1 NA18975.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0068 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0068 a0001c0001t0009g0100 a0001c0001t0009g0101	3	360	0.0083	-48	c.92- others(63): Show c.92-9775_92-9728delCGGGGATGTGTGTGGGGCGTGCTCTGGGGA TGTGTGTGGGGCGTGCTC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BSCL2_chr11_62685275_62712424	62711561	TTAAAAAA others(41): Show TTAAAAAATGATTAATTAGCTCTAACAGCAACTTAAATGTCCTAAAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03041.hp1 HG02630.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0257 a0001c0001t0001g0183 a0001c0001t0001g0257	2	330	0.0061	-48	c.-44 others(59): Show c.-4414_-4367delTTCTTTAGGACATTTAAGTTGCTGTTAGAGCTAA TTAATCATTTTTTA	BSCL2	ENSG00000168000.16	transcript	ENST00000360796.10	protein_coding		4138		chr11	TogoVar
BSG_chr19_567596_588493	585322	ACCCCGTC others(41): Show ACCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCGGAGGTGGATGTCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01891.hp1 HG02922.hp2 HG01175.hp1 HG01891.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0004t0003 a0001c0001t0003 a0001c0002t0001 a0001c0004t0003	a0001c0001t0003g0162 a0001c0002t0001g0006 a0001c0004t0003g0034 a0001c0001t0003g0162 a0001c0002t0001g0006 a0001c0004t0003g0034	3	306	0.0098	-48	c.25 others(59): Show c.2579_*2626delCCCCGTCGGTGGGTGCCCGGCGCGGAGGGGTGCG GAGGTGGATGTCCG	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1830		chr19	TogoVar
C12orf40_chr12_39621183_39726914	39711539	ATATGTAT others(41): Show ATATGTATGTGCATACACATGCATGTGTATATGTGCATACACATGCATG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19006.hp2 NA20129.hp2 NA18522.hp2 NA19006.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0196 a0003c0005t0001g0335 a0003c0005t0001g0336 a0001c0001t0001g0196 a0003c0005t0001g0335 a0003c0005t0001g0336	3	360	0.0083	-48	c.141 others(67): Show c.1412-5215_1412-5168delATGTATGTGCATACACATGCATGTGT ATATGTGCATACACATGCATGT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39711550	CATACACA others(41): Show CATACACATGCATGTGTATATGTGCATACACATGCATGTGTATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18945.hp1 HG02004.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0312 a0001c0001t0001g0176 a0001c0001t0001g0312	2	360	0.0056	-48	c.141 others(67): Show c.1412-5187_1412-5140delATGTGCATACACATGCATGTGTATAT GTGTATACACATGCATGTGTAT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C13orf46_chr13_113948705_113979076	113958179	CTGCACCC others(41): Show CTGCACCCCCTTTCATCAAGTGCACTGGGGGTCTCCCCTGCACTCCACA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18906.hp1 HG02572.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0040 a0001c0001t0002 a0001c0001t0040	a0001c0001t0002g0141 a0001c0001t0040g0176 a0001c0001t0002g0141 a0001c0001t0040g0176	2	414	0.0048	-48	c.573 others(65): Show c.573-1388_573-1341delTGTGGAGTGCAGGGGAGACCCCCAGTGC ACTTGATGAAAGGGGGTGCA	C13orf46	ENSG00000283199.3	transcript	ENST00000636427.3	protein_coding	6/6			chr13	TogoVar
C17orf67_chr17_56786913_56838920	56789964	AAGAGAAA others(41): Show AAGAGAAAGGCAGAGTGATATGATGTGAGGCTCAACTCACCATTGGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	292	0.0034	-48	c.23 others(59): Show c.2361_*2408delCCACCAATGGTGAGTTGAGCCTCACATCATATCA CTCTGCCTTTCTCT	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding		1948		chr17	TogoVar
C1QBP_chr17_5427777_5444155	5442988	GATTGTCC others(41): Show GATTGTCCCAAGTCCCTACGAAGAAGGAAAAAATATCATAGAAAATTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	408	0.0025	-48	c.-39 others(59): Show c.-3963_-3916delTTAATTTTCTATGATATTTTTTCCTTCTTCGTAG GGACTTGGGACAAT	C1QBP	ENSG00000108561.8	transcript	ENST00000225698.8	protein_coding		3834		chr17	TogoVar
C1QTNF8_chr16_1083226_1101244	1091820	AGCCACCA others(41): Show AGCCACCACTAGAGCAGCCCCACCCTCCCGGCCACCGTGAGTGCTGGGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01071.hp1 others(15): Show HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03540.hp2 HG06807.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0053 a0001c0001t0005 a0001c0001t0007 a0001c0001t0053	a0001c0001t0005g0145 a0001c0001t0007g0009 a0001c0001t0007g0040 others(8): Show a0001c0001t0005g0145 a0001c0001t0007g0009 a0001c0001t0007g0040 a0001c0001t0007g0074 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0007g0142 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0149 a0001c0001t0053g0148	18	396	0.0455	-48	c.5- others(63): Show c.5-1274_*5-1227delACCCAGCACTCACGGTGGCCGGGAGGGTGG GGCTGCTCTAGTGGTGGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C2CD3_chr11_74007718_74176002	74077771	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01515.hp2 HG01517.hp2 HG01106.hp1 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0165	3	318	0.0094	-48	c.460 others(65): Show c.4603+296_4603+343delTATATATATATATATATATATATATATA TATATATATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74077799	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp2 HG02258.hp2 others(5): Show HG00642.hp1 HG02257.hp2 HG02258.hp2 HG02735.hp1 HG02970.hp1 HG02976.hp2 HG03491.hp2 HG03492.hp1	a0005 a0006 a0005 a0006	a0005c0006 a0005c0027 a0006c0008 a0005c0006 a0005c0027 a0006c0008	a0005c0006t0001 a0005c0027t0001 a0006c0008t0001 a0005c0006t0001 a0005c0027t0001 a0006c0008t0001	a0005c0006t0001g0006 a0005c0006t0001g0007 a0005c0006t0001g0013 others(5): Show a0005c0006t0001g0006 a0005c0006t0001g0007 a0005c0006t0001g0013 a0005c0027t0001g0012 a0006c0008t0001g0229 a0006c0008t0001g0236 a0006c0008t0001g0237 a0006c0008t0001g0239	8	318	0.0252	-48	c.460 others(65): Show c.4603+268_4603+315delAATATATATATATATATATATATATATA TATATATATATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	23/32			chr11	TogoVar
C2CD6_chr2_201482421_201624178	201563121	TGGGGCGG others(41): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(129): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18950.hp2 NA18953.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 others(13): Show a0001 a0002 a0010 a0011 a0012 a0013 a0014 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0033	a0001c0001 a0001c0016 a0002c0002 others(14): Show a0001c0001 a0001c0016 a0002c0002 a0010c0013 a0011c0012 a0012c0011 a0013c0010 a0014c0018 a0023c0022 a0024c0023 a0025c0025 a0026c0024 a0027c0021 a0028c0026 a0029c0020 a0030c0019 a0033c0017	a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 others(14): Show a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 a0010c0013t0001 a0011c0012t0001 a0012c0011t0001 a0013c0010t0001 a0014c0018t0001 a0023c0022t0001 a0024c0023t0001 a0025c0025t0001 a0026c0024t0001 a0027c0021t0001 a0028c0026t0001 a0029c0020t0001 a0030c0019t0001 a0033c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(129): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0016t0001g0001 a0002c0002t0001g0083 a0010c0013t0001g0123 a0010c0013t0001g0158 a0011c0012t0001g0121 a0011c0012t0001g0122 a0012c0011t0001g0073 a0012c0011t0001g0152 a0013c0010t0001g0013 a0013c0010t0001g0014 a0014c0018t0001g0150 a0023c0022t0001g0106 a0024c0023t0001g0148 a0025c0025t0001g0016 a0026c0024t0001g0101 a0027c0021t0001g0124 a0028c0026t0001g0007 a0029c0020t0001g0015 a0030c0019t0001g0086 a0033c0017t0001g0267	132	270	0.4889	-48	c.977 others(65): Show c.977+2560_977+2607delGTCCGGGAGGGAGGTGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCC	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C2CD6_chr2_201482421_201624178	201563421	CCCCCTCA others(41): Show CCCCCTCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(122): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18950.hp2 NA18953.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0010 others(11): Show a0001 a0002 a0010 a0011 a0012 a0013 a0014 a0024 a0025 a0026 a0027 a0028 a0030 a0033	a0001c0001 a0001c0016 a0002c0002 others(12): Show a0001c0001 a0001c0016 a0002c0002 a0010c0013 a0011c0012 a0012c0011 a0013c0010 a0014c0018 a0024c0023 a0025c0025 a0026c0024 a0027c0021 a0028c0026 a0030c0019 a0033c0017	a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 others(12): Show a0001c0001t0001 a0001c0016t0001 a0002c0002t0001 a0010c0013t0001 a0011c0012t0001 a0012c0011t0001 a0013c0010t0001 a0014c0018t0001 a0024c0023t0001 a0025c0025t0001 a0026c0024t0001 a0027c0021t0001 a0028c0026t0001 a0030c0019t0001 a0033c0017t0001	a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0061 others(122): Show a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0016t0001g0001 a0002c0002t0001g0083 a0010c0013t0001g0123 a0010c0013t0001g0158 a0011c0012t0001g0121 a0011c0012t0001g0122 a0012c0011t0001g0073 a0012c0011t0001g0152 a0013c0010t0001g0013 a0013c0010t0001g0014 a0014c0018t0001g0150 a0024c0023t0001g0148 a0025c0025t0001g0016 a0026c0024t0001g0101 a0027c0021t0001g0124 a0028c0026t0001g0007 a0030c0019t0001g0086 a0033c0017t0001g0267	125	270	0.4630	-48	c.977 others(65): Show c.977+2260_977+2307delTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGAGGGG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C2CD6_chr2_201482421_201624178	201563426	TCACCTCC others(41): Show TCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03688.hp1 HG02970.hp1 HG03688.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0004c0005t0001 a0002c0002t0001 a0004c0005t0001	a0002c0002t0001g0045 a0004c0005t0001g0177 a0002c0002t0001g0045 a0004c0005t0001g0177	2	270	0.0074	-48	c.977 others(65): Show c.977+2255_977+2302delGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTG	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	9/15			chr2	TogoVar
C2_chr6_31922717_31950672	31931898	CCCCCCAC others(41): Show CCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCGGGCGGGGGGCTGAT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	395	0.0025	-48	c.443 others(65): Show c.443-1706_443-1659delACCTCCCTCCCGGACGGCGCGGCTGGCC GGGCGGGGGGCTGATCCCCC	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
C2_chr6_31922717_31950672	31931945	ATCCCCCC others(41): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	395	0.0025	-48	c.443 others(65): Show c.443-1664_443-1617delTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTG	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	3/17			chr6	TogoVar

Search by Variant

Search

Search Results (Total: 2076 hits)