Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCOR1_chr17_16024157_16220534	16145324	ATCTGGGA others(69): Show ATCTGGGAAGTGAGGAGCGTCTCTGCCTGGACGCCCATCGTCTGGGATGT GGGGAGTGCCTCTGCCTGGCCGCCCAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0163 a0001c0001t0026g0163	1	282	0.0036	-76	c.108 others(94): Show c.1082+976_1082+1051delCTGGGCGGCCAGGCAGAGGCACTCCCC ACATCCCAGACGATGGGCGTCCAGGCAGAGACGCTCCTCACTTCCCAGA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	10/45			chr17	TogoVar
NCR1_chr19_54901148_54918073	54903308	GTATACAT others(69): Show GTATACATACATGTATATATACATGTATGTATATACATATATGCATATAT ACATACATGTATATATACATGTATGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	457	0.0022	-76	c.-28 others(87): Show c.-2879_-2804delTATACATACATGTATATATACATGTATGTATATA CATATATGCATATATACATACATGTATATATACATGTATGTA	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		2839		chr19	TogoVar
NEU1_chr6_31852659_31867821	31854860	GGAGACGC others(69): Show GGAGACGCTCCTCACTTTCCAGACTGGGCAGCCAGGCAGAGGGGCTCCTC ACATCCCAGACGATGGGCGGCCAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(4): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG02055.hp1 HG02717.hp1 HG02738.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0008 a0001c0001t0001g0001 a0001c0001t0008g0008	7	419	0.0167	-76	c.47 others(87): Show c.4783_*4858delTGCCTGGCCGCCCATCGTCTGGGATGTGAGGAGC CCCTCTGCCTGGCTGCCCAGTCTGGAAAGTGAGGAGCGTCTC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		2798		chr6	TogoVar
NEURL1_chr10_103488705_103597546	103570602	AGGTGGGA others(69): Show AGGTGGGAGAGGGTGGGGGTGGGAGGTGATGGAGAATGCCGAGGTGAGAA GTGGTGGATAGTGAACCAGTAGAGCAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0300 a0001c0002t0024g0300	1	312	0.0032	-76	c.86- others(89): Show c.86-264_86-189delGAGAGGGTGGGGGTGGGAGGTGATGGAGAATG CCGAGGTGAGAAGTGGTGGATAGTGAACCAGTAGAGCATGGTGG	NEURL1	ENSG00000107954.11	transcript	ENST00000369780.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
NFE2L3_chr7_26147198_26192137	26176573	TTCCCAGA others(69): Show TTCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCACATCCCAGACGATG GGCAGCCGGGCAGAGGCGCTCCTCACA	T T	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	400	0.0025	-76	c.571 others(93): Show c.571-1333_571-1258delATCCCAGACGATGGGCAGCCGGGCAGAG GCGCTCCTCACATCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCAC	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NGB_chr14_77260483_77276206	77269725	TCTTCTCT others(69): Show TCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCCCTCTCCCTCTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	366	0.0027	-76	c.90- others(89): Show c.90-475_90-400delGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	TTCTCTCT others(69): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCCCTCTCCCTCTCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01081.hp1 HG01928.hp1 others(13): Show HG00609.hp2 HG01081.hp1 HG01928.hp1 HG02027.hp2 HG02630.hp2 HG02647.hp1 HG03688.hp2 NA18952.hp1 NA18960.hp1 NA18975.hp1 NA18978.hp1 NA19030.hp2 NA19043.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0071 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0002g0026	16	366	0.0437	-76	c.90- others(89): Show c.90-477_90-402delGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NINJ2_chr12_559296_668445	582413	GCAGGCAG others(69): Show GCAGGCAGGCATGCTAGAGTGAATGAATGAATGGACGCAGGCAGGCAGGC ATGCTAGTGTGAATGAATGAATGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0362 a0001c0001t0002g0362	1	404	0.0025	-76	c.34- others(93): Show c.34-16311_34-16236delTGCCCATTCATTCATTCACACTAGCATG CCTGCCTGCCTGCGTCCATTCATTCATTCACTCTAGCATGCCTGCCTG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NKAIN2_chr6_123798865_124830640	123976328	CCCATATA others(69): Show CCCATATATATATATGTTCCCATATATATATATATATATATTCCCATATA TATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03486.hp1 HG01243.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0006 a0001c0003t0003g0037 a0001c0001t0001g0006 a0001c0003t0003g0037	2	66	0.0303	-76	c.54+ others(95): Show c.54+172075_54+172150delCCATATATATATATGTTCCCATATAT ATATATATATATATTCCCATATATATATATATATATATATATATATATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6			chr6	TogoVar
NME8_chr7_37843597_37905397	37848197	AGAGAAGA others(69): Show AGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG AAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 NA18980.hp2 HG02523.hp1 NA18980.hp2	a0003 a0003	a0003c0003 a0003c0010 a0003c0003 a0003c0010	a0003c0003t0001 a0003c0010t0001 a0003c0003t0001 a0003c0010t0001	a0003c0003t0001g0132 a0003c0010t0001g0122 a0003c0003t0001g0132 a0003c0010t0001g0122	2	388	0.0052	-76	c.-77 others(85): Show c.-771_-696delGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		399		chr7	TogoVar
NOMO1_chr16_14828721_14901157	14874022	TTGGTCTG others(69): Show TTGGTCTGACCCCCCTCTGGGGTCACTGTAGCAGCTTCCCAGCTGGGCTT CGCTTCTTACCACGTGGCCCTCAGCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(166): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02976.hp1 HG03017.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0012 a0016 a0017	a0001c0001 a0001c0013 a0001c0015 others(12): Show a0001c0001 a0001c0013 a0001c0015 a0001c0021 a0002c0002 a0002c0005 a0002c0018 a0004c0004 a0005c0006 a0006c0009 a0007c0007 a0009c0019 a0012c0016 a0016c0024 a0017c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0013t0001 a0001c0015t0001 a0001c0021t0003 a0002c0002t0001 a0002c0002t0004 a0002c0005t0001 a0002c0018t0001 a0004c0004t0001 a0004c0004t0003 a0004c0004t0009 a0005c0006t0001 a0006c0009t0001 a0006c0009t0003 a0007c0007t0001 a0009c0019t0001 a0012c0016t0001 a0016c0024t0001 a0017c0017t0005	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0024 others(164): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0003g0060 a0001c0001t0003g0087 a0001c0001t0003g0117 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0013t0001g0148 a0001c0013t0001g0247 a0001c0015t0001g0263 a0001c0021t0003g0088 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0252 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0266 a0002c0002t0001g0270 a0002c0002t0001g0292 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0004g0143 a0002c0002t0004g0144 a0002c0002t0004g0248 a0002c0005t0001g0091 a0002c0005t0001g0236 a0002c0005t0001g0237 a0002c0005t0001g0238 a0002c0005t0001g0245 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0018t0001g0298 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0142 a0004c0004t0001g0163 a0004c0004t0001g0265 a0004c0004t0003g0012 a0004c0004t0003g0013 a0004c0004t0009g0140 a0005c0006t0001g0226 a0005c0006t0001g0279 a0005c0006t0001g0281 a0005c0006t0001g0282 a0005c0006t0001g0283 a0006c0009t0001g0133 a0006c0009t0001g0280 a0006c0009t0001g0285 a0006c0009t0001g0293 a0006c0009t0003g0075 a0007c0007t0001g0010 a0007c0007t0001g0295 a0007c0007t0001g0296 a0007c0007t0001g0297 a0009c0019t0001g0224 a0012c0016t0001g0273 a0016c0024t0001g0086 a0017c0017t0005g0303	169	337	0.5015	-76	c.205 others(93): Show c.2055-986_2055-911delTAGCAGCTTCCCAGCTGGGCTTCGCTTC TTACCACGTGGCCCTCAGCCCTGGTCTGACCCCCCTCTGGGGTCACTG	NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO3_chr16_16227528_16299811	16272708	CCAGCTGG others(69): Show CCAGCTGGCCTTCCCTTCTCACCACGTGGCCCTCAGCCCTGGTCTGACCC CCCTCTGGGATCACTGCAGCAGCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	132	0.0076	-76	c.205 others(93): Show c.2055-967_2055-892delCTTCTCACCACGTGGCCCTCAGCCCTGG TCTGACCCCCCTCTGGGATCACTGCAGCAGCTTCTCAGCTGGCCTTCC	NOMO3	ENSG00000103226.19	transcript	ENST00000399336.9	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH2_chr1_119906553_120074662	120037175	CGGAAGGT others(69): Show CGGAAGGTATTTTAACGTCTTGACTGTCTGAGGCTCCTAAAATACATGAA GAGGAGTTATACAGGCTCTTTTAACTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG02630.hp1 HG02723.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0009 a0002c0011t0009	a0002c0011t0009g0002 a0002c0011t0009g0003 a0002c0011t0009g0002 a0002c0011t0009g0003	2	168	0.0119	-76	c.74- others(91): Show c.74-7264_74-7189delAAGTTAAAAGAGCCTGTATAACTCCTCTTC ATGTATTTTAGGAGCCTCAGACAGTCAAGACGTTAAAATACCTTCC	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOX4_chr11_89319353_89496375	89486598	ATACATAT others(69): Show ATACATATATATGTGTGTATATATGTGTATATATACATATATATGTGTGT ATATATGTGTATATATACATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 NA19043.hp2 HG02976.hp1 HG03195.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0098 a0001c0002t0099 a0001c0002t0033 a0001c0002t0098 a0001c0002t0099	a0001c0002t0033g0285 a0001c0002t0098g0284 a0001c0002t0099g0286 a0001c0002t0033g0285 a0001c0002t0098g0284 a0001c0002t0099g0286	3	288	0.0104	-76	c.153 others(93): Show c.153+3784_153+3859delCATATATATGTATATATACACATATATA CACACATATATATGTATATATACACATATATACACACATATATATGTA	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NRROS_chr3_196634694_196667004	196634767	GGGAGAAG others(69): Show GGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGAGAAGTGGGGTCTGGA GAAGTGGGGGCTAGAGAAGTGGAGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	472	0.0021	-76	c.-51 others(87): Show c.-5121_-5046delGGAGAAGTGGGGGCTAGAGAAGTGGGGGCTGGGA GAAGTGGGGTCTGGAGAAGTGGGGGCTAGAGAAGTGGAGGCT	NRROS	ENSG00000174004.6	transcript	ENST00000328557.5	protein_coding		4926		chr3	TogoVar
NSMF_chr9_137442570_137464334	137454033	AGGGAGGA others(69): Show AGGGAGGAGCCTGGGCCGGGCTGGGGGCGTGGCTGGGAGGGGAGGAGCCT GGGCCGGGCTGGGGGCGTGGCTGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG01891.hp2 others(1): Show HG00323.hp2 HG01109.hp2 HG01891.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0009g0050 a0001c0001t0001g0083 a0001c0001t0001g0105 a0001c0001t0009g0050	4	414	0.0097	-76	c.832 others(91): Show c.832+282_833-214delCTCCCAGCCACGCCCCCAGCCCGGCCCAGG CTCCTCCCCTCCCAGCCACGCCCCCAGCCCGGCCCAGGCTCCTCCC	NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	7/15			chr9	TogoVar
NTM_chr11_131365615_132341822	131633690	TCTCCCTC others(69): Show TCTCCCTCCCTCTCTCCTTCTCTCCCTCCCTCTCTCTCTCTCTCTCTCCC TCCCTCTCTCTCCCTCCCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02280.hp1 others(2): Show HG01243.hp1 HG01884.hp2 HG02280.hp1 HG02922.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0022 a0001c0001t0003g0030 a0001c0001t0003g0051 others(2): Show a0001c0001t0002g0022 a0001c0001t0003g0030 a0001c0001t0003g0051 a0001c0001t0004g0005 a0001c0001t0004g0029	5	86	0.0581	-76	c.82+ others(95): Show c.82+262806_82+262881delCCTCCCTCTCTCCTTCTCTCCCTCCC TCTCTCTCTCTCTCTCTCCCTCCCTCTCTCTCCCTCCCTCTCTCTCCCTC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTPCR_chr1_232945611_232988882	232976718	GGTAGAAA others(69): Show GGTAGAAATGGGATCACGGGACTGACGCAGCCAGGACCAGTAGAAATGGG ATCACGGGATTGACGCAGCCAGGACCA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0175 a0001c0002t0003g0175	1	376	0.0027	-76	c.505 others(93): Show c.505-1429_505-1354delCGGGACTGACGCAGCCAGGACCAGTAGA AATGGGATCACGGGATTGACGCAGCCAGGACCAGTAGAAATGGGATCA	NTPCR	ENSG00000135778.12	transcript	ENST00000366628.10	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NXN_chr17_794310_984776	948993	CCCGGGCT others(69): Show CCCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCTGCCTCCTCCTCTCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	242	0.0041	-76	c.360 others(95): Show c.360+30250_360+30325delCGGGGAGAGGAGGAGGCAGGGGGAGA GGAGGAGGCAGGGGGGAGAGGAGGAGCCCGGGGGGAGAGGAGGAGCCCGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OCA2_chr15_27749875_28104315	27913852	AAAGAAAG others(69): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGCAAGCA AGCAAGCAAGCAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0088 a0001c0046t0001g0088	1	110	0.0091	-76	c.207 others(97): Show c.2079+12199_2079+12274delGCTTGCTTGCTTGCTTGCTTGCTT GCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23			chr15	TogoVar
ODF3_chr11_191761_205258	195969	GGGACATA others(69): Show GGGACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGG GACCTTGGTGAGGGGACCTGGTGAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00544.hp1 others(41): Show HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02040.hp2 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp2 HG02698.hp2 HG03041.hp2 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp2 NA18945.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18971.hp1 NA18979.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp2 NA19075.hp1 NA19080.hp1 NA19084.hp1 NA19090.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0005 a0007c0009 a0001c0002 a0001c0005 a0007c0009	a0001c0002t0001 a0001c0005t0001 a0007c0009t0001 a0001c0002t0001 a0001c0005t0001 a0007c0009t0001	a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0017 others(4): Show a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0005t0001g0004 a0007c0009t0001g0004	44	388	0.1134	-76	c.-10 others(87): Show c.-1085_-1010delGGACATAGGGGGACCTTGGTGAGCGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		791		chr11	TogoVar
OR14A2_chr1_247717957_247753141	247735995	GGCCTTTG others(69): Show GGCCTTTGTTATGAATGTTGCTTCTATTGATCTTACTCGAGAATGGAAAC ATTTTCCGGGGCTGAAGATTCCATATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0120 a0005c0005t0001g0120	1	348	0.0029	-76	c.-43 others(93): Show c.-433-515_-433-440delTATATGGAATCTTCAGCCCCGGAAAATG TTTCCATTCTCGAGTAAGATCAATAGAAGCAACATTCATAACAAAGGC	OR14A2	ENSG00000241128.3	transcript	ENST00000366485.2	protein_coding	1/4			chr1	TogoVar
OR14K1_chr1_247733615_247744559	247735995	GGCCTTTG others(69): Show GGCCTTTGTTATGAATGTTGCTTCTATTGATCTTACTCGAGAATGGAAAC ATTTTCCGGGGCTGAAGATTCCATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01361.hp1 HG01257.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	392	0.0051	-76	c.-26 others(87): Show c.-2619_-2544delGCCTTTGTTATGAATGTTGCTTCTATTGATCTTA CTCGAGAATGGAAACATTTTCCGGGGCTGAAGATTCCATATA	OR14K1	ENSG00000153230.4	transcript	ENST00000283225.2	protein_coding		2619		chr1	TogoVar
OR2M3_chr1_248192265_248217925	248213419	ATATATGT others(69): Show ATATATGTATATATATATATGTATATATATATATGTATATATATATATGT ATATATATATATGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02970.hp2 HG02572.hp2 HG02896.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0007 a0001c0002t0010g0007	3	410	0.0073	-76	c.94 others(87): Show c.9414_*9489delTATATGTATATATATATATGTATATATATATATG TATATATATATATGTATATATATATATGTATATATATATATG	OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding		495		chr1	TogoVar
OR6C70_chr12_55464200_55475138	55474136	GCAAGACT others(69): Show GCAAGACTAAGTGAATGGGCATTACTAATTGACCAATTAAATCCTAACAG TTTTTTTTCACTGAAATCAAAACTAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	-76	c.-40 others(87): Show c.-4074_-3999delTTTAGTTTTGATTTCAGTGAAAAAAAACTGTTAG GATTTAATTGGTCAATTAGTAATGCCCATTCACTTAGTCTTG	OR6C70	ENSG00000184954.4	transcript	ENST00000327335.4	protein_coding		3999		chr12	TogoVar
OR6J1_chr14_22625929_22649352	22636325	TCTCCCTC others(69): Show TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG02451.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0016 a0002c0002t0004g0130 a0002c0002t0004g0016 a0002c0002t0004g0130	2	362	0.0055	-76	c.-27 others(93): Show c.-27-1563_-27-1488delGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
P2RX5_chr17_3668227_3701155	3685841	TCCCCCGC others(69): Show TCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCGC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03492.hp1 HG01346.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0132 a0001c0001t0001g0074 a0001c0001t0001g0132	2	362	0.0055	-76	c.981 others(93): Show c.981+2095_981+2170delGCGGGGGACGTTGGGAGGGTCCCTGGGG GCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RY10_chrX_78940391_78968727	78965757	TCTTTCTT others(69): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT TCTTTTTTCTTTCTTTTCTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0047	1	322	0.0031	-76	c.42 others(87): Show c.4218_*4293delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTTTCTTTTTTCTTTCTTTTCTTTCTTTTC	P2RY10	ENSG00000078589.13	transcript	ENST00000171757.3	protein_coding		2031		chrX	TogoVar
P2RY8_chrX_1457581_1542185	1509635	ATCTATTC others(69): Show ATCTATTCATCCATCTGTCTATCCTGTATGTGTTCATCCATCCATCCATC CATCCATCCATCCATCCATCCATTTAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0017 a0001c0004t0020g0017	1	114	0.0088	-76	c.-25 others(95): Show c.-25+27210_-25+27285delATAAATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGAACACATACAGGATAGACAGATGGATGAATAGA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PAQR5_chr15_69293912_69412780	69300706	TTCTTTCT others(69): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCATTCTTT CTCTTCCTTCCTCCCTCCCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02602.hp2 HG02809.hp2 others(9): Show HG02145.hp2 HG02602.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03098.hp2 HG03486.hp2 HG03704.hp1 HG04204.hp2 NA18948.hp2 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0019 a0002c0002t0001 a0001c0001t0001 a0001c0001t0019 a0002c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(9): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0019g0039 a0002c0002t0001g0032	12	284	0.0423	-76	c.-27 others(95): Show c.-277+1654_-277+1729delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTCTCTCTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAXBP1_chr21_32728899_32776755	32771873	AGAGAGAG others(69): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01243.hp1 others(4): Show HG00280.hp2 HG00735.hp2 HG01243.hp1 HG02615.hp2 HG03927.hp2 NA18961.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0067 a0001c0001t0001g0181 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0067 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215	7	360	0.0194	-76	c.-28 others(85): Show c.-281_-206delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		119		chr21	TogoVar
PCCB_chr3_136245340_136335169	136299462	ATGTATAG others(69): Show ATGTATAGGTATGCATGTGTATGTATGTATATGCATGTGTATGTATAGGT ATGCATGTGTATGTATGTATATGCATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00735.hp1 others(71): Show HG00280.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(70): Show a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0294 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0002t0001g0030 a0001c0002t0001g0032	74	300	0.2467	-76	c.884 others(93): Show c.884+1472_885-1411delAGGTATGCATGTGTATGTATGTATATGC ATGTGTATGTATAGGTATGCATGTGTATGTATGTATATGCATGTGTAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PFKFB3_chr10_6197932_6240532	6215316	AAGTAAGG others(69): Show AAGTAAGGCTGGGCCGCGGGCGTAGGGCTGGGCTGTGGGAATAAGGCTGG GCCGCGGGCATAAGGCTGGGCTGCAGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0010 a0003c0012t0010	a0003c0012t0010g0198 a0003c0012t0010g0198	1	432	0.0023	-76	c.299 others(90): Show c.299+51_299+126delCGCGGGCATAAGGCTGGGCTGCAGGAGTAAG GCTGGGCCGCGGGCGTAGGGCTGGGCTGTGGGAATAAGGCTGGGC	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHACTR3_chr20_59599540_59852711	59618712	AAGAGGTG others(69): Show AAGAGGTGCTGTCTCACCCTGAGCAGGGCCGAGAGCCTGAGAGGTGCTGT CTCACCCTGAGCAGGGCCGAGAGCCTG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0208 a0001c0001t0014g0208	1	250	0.0040	-76	c.118 others(95): Show c.118+13647_118+13722delCGAGAGCCTGAGAGGTGCTGTCTCAC CCTGAGCAGGGCCGAGAGCCTGAGAGGTGCTGTCTCACCCTGAGCAGGGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHRF1_chr11_571470_617222	576745	GCTGGGAG others(69): Show GCTGGGAGGCCCCGCCGAGACTGGGAGGCCCCGCCGAGACTGGGAGGCCC CGCCGAGACTGGGAGGCCCCGCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00735.hp2 others(19): Show HG00099.hp2 HG00140.hp2 HG00735.hp2 HG01069.hp2 HG01175.hp2 HG01192.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02056.hp2 HG02155.hp1 HG02258.hp2 HG02886.hp2 HG03225.hp2 HG03453.hp2 HG03704.hp2 NA19065.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0013	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0014 a0001c0027 a0001c0031 a0002c0002 a0003c0004 a0003c0020 a0005c0007 a0013c0021	a0001c0001t0001 a0001c0003t0002 a0001c0006t0002 others(8): Show a0001c0001t0001 a0001c0003t0002 a0001c0006t0002 a0001c0014t0001 a0001c0027t0001 a0001c0031t0001 a0002c0002t0001 a0003c0004t0003 a0003c0020t0009 a0005c0007t0001 a0013c0021t0008	a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 others(19): Show a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0003t0002g0015 a0001c0006t0002g0016 a0001c0014t0001g0262 a0001c0014t0001g0263 a0001c0027t0001g0254 a0001c0031t0001g0261 a0002c0002t0001g0248 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0267 a0003c0004t0003g0250 a0003c0020t0009g0249 a0005c0007t0001g0252 a0005c0007t0001g0253 a0013c0021t0008g0251	22	279	0.0789	-76	c.-22 others(91): Show c.-22+260_-22+335delCGCCGAGACTGGGAGGCCCCGCCGAGACTG GGAGGCCCCGCCGAGACTGGGAGGCCCCGCCGAGACTGGGAGGCCC	PHRF1	ENSG00000070047.13	transcript	ENST00000264555.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
PI15_chr8_74819534_74860029	74854794	TATAATCC others(69): Show TATAATCCTCAAATATACTGTACCATTTTAGATATTTTTTAAACAGATTA ATTTGGAGAAGTTTTATTCATTACCTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0004 a0001c0001t0035g0004	1	338	0.0030	-76	c.55 others(87): Show c.5544_*5619delAATCCTCAAATATACTGTACCATTTTAGATATTT TTTAAACAGATTAATTTGGAGAAGTTTTATTCATTACCTAAT	PI15	ENSG00000137558.9	transcript	ENST00000260113.7	protein_coding	6/6	5544	INFO_REALIGN_3_PRIME	chr8	TogoVar
PI4K2A_chr10_97635671_97681434	97678880	GGTGTGTG others(69): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03130.hp1 NA19030.hp2 HG03041.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0066 a0001c0002t0005g0015 a0001c0002t0005g0016 a0001c0002t0005g0066	3	350	0.0086	-76	c.51 others(87): Show c.5139_*5214delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2447		chr10	TogoVar
PIEZO2_chr18_10665247_11154569	10886323	CATATATA others(69): Show CATATATATATATATATATATACACACACACACACACACATATATATGTG TGTGTGTGTATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0156 a0001c0024t0001g0156	1	158	0.0063	-76	c.330 others(95): Show c.330-14984_330-14909delATATATATATATATATATACACACAC ACACATATATATGTGTGTGTGTGTGTGTGTATATATATATATATATATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	4/55			chr18	TogoVar
PKP3_chr11_389209_409908	400857	GACCCCGC others(69): Show GACCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGCCC CGCTCACCCCGGACCCCGCTCACCCCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0029 a0001c0005t0001g0029	1	216	0.0046	-76	c.173 others(93): Show c.1737+153_1737+228delACCCCGCTCACACCCGCCCCGCTCACCC CCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGACCCCGCTCACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401008	CCGGACCC others(69): Show CCGGACCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACCCCC GCCCCGCTCACCCCCGGCCCGCTCACA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	216	0.0046	-76	c.173 others(93): Show c.1737+305_1737+380delGGACCCCGCTCACACCCGCCCCGCTCAC ACCCGGCCCCGCTCACCCCCGCCCCGCTCACCCCCGGCCCGCTCACAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401367	GCCCCGCT others(69): Show GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCGCTCACACCCGGCCCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG01258.hp1 HG00099.hp1 HG01175.hp1 HG01258.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0015 a0001c0006 a0004c0015	a0001c0006t0001 a0004c0015t0001 a0001c0006t0001 a0004c0015t0001	a0001c0006t0001g0058 a0001c0006t0001g0060 a0004c0015t0001g0041 a0001c0006t0001g0058 a0001c0006t0001g0060 a0004c0015t0001g0041	3	216	0.0139	-76	c.173 others(93): Show c.1737+663_1737+738delCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	402665	CGGCCCCG others(69): Show CGGCCCCGCTCACCCCCGACCCGCTCACCCCGACCCCGCTCACCCCCGCC CCGCTCACCCCTGCCCCGCTCACCCCG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0177 a0001c0030t0001g0177	1	216	0.0046	-76	c.173 others(93): Show c.1738-395_1738-320delACCCGCTCACCCCGACCCCGCTCACCCC CGCCCCGCTCACCCCTGCCCCGCTCACCCCGGGCCCCGCTCACCCCCG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4E_chr15_41976582_42026042	41987855	CCCGCCCC others(69): Show CCCGCCCCCCATCACCCAGCCATGAGGGAAAGCCGGGGGCCGCCCCCCAT CACCCAGCCATGAGGGAAAGCCGGGGG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02896.hp2 HG03471.hp2 others(2): Show HG01243.hp1 HG02896.hp2 HG03471.hp2 NA19240.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0012 a0001c0002 a0007c0012	a0001c0002t0002 a0007c0012t0002 a0007c0012t0004 a0001c0002t0002 a0007c0012t0002 a0007c0012t0004	a0001c0002t0002g0260 a0007c0012t0002g0037 a0007c0012t0002g0038 others(2): Show a0001c0002t0002g0260 a0007c0012t0002g0037 a0007c0012t0002g0038 a0007c0012t0002g0040 a0007c0012t0004g0039	5	422	0.0119	-76	c.174 others(93): Show c.1744+118_1744+193delCCCCCGGCTTTCCCTCATGGCTGGGTGA TGGGGGGCGGCCCCCGGCTTTCCCTCATGGCTGGGTGATGGGGGGCGG	PLA2G4E	ENSG00000188089.14	transcript	ENST00000696112.1	protein_coding	16/19			chr15	TogoVar
PLEC_chr8_143910153_143944597	143928549	TGGCGGCC others(69): Show TGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGA CCTGTGGTTTGCAACACAGGAAGAGGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0051 a0051	a0051c0136 a0051c0136	a0051c0136t0012 a0051c0136t0012	a0051c0136t0012g0178 a0051c0136t0012g0178	1	358	0.0028	-76	c.326 others(93): Show c.3260+478_3260+553delGCCTCTTCCTGTGTTGCAAACCACAGGT CCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCC	PLEC	ENSG00000178209.17	transcript	ENST00000345136.8	protein_coding	25/31			chr8	TogoVar
PLEC_chr8_143910153_143978529	143928549	TGGCGGCC others(69): Show TGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGA CCTGTGGTTTGCAACACAGGAAGAGGC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0049 a0049	a0049c0120 a0049c0120	a0049c0120t0011 a0049c0120t0011	a0049c0120t0011g0255 a0049c0120t0011g0255	1	302	0.0033	-76	c.321 others(93): Show c.3218+478_3218+553delGCCTCTTCCTGTGTTGCAAACCACAGGT CCACCCGCTGTCTACTCCTCACAGAACCAGCACAGTGATAGGGCCGCC	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding	25/31			chr8	TogoVar
PLEKHM1_chr17_45430900_45495721	45449289	TCCACCCA others(69): Show TCCACCCATCTACCCATCTACCTACCCATCTACCCATTCACCTAACCATC TACCCATCTAGCCATCTGCCCATTCAC	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	325	0.0031	-76	c.264 others(95): Show c.2643+1253_2643+1328delGTGAATGGGCAGATGGCTAGATGGGT AGATGGTTAGGTGAATGGGTAGATGGGTAGGTAGATGGGTAGATGGGTGG	PLEKHM1	ENSG00000225190.12	transcript	ENST00000430334.8	protein_coding	8/11			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	20126639	AACACACA others(69): Show AACACACACGTTATATATGTATATATAACACACGTTATATATGTATATAT AACACACGTTATATATGTATATATAAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01516.hp2 HG02300.hp2 others(2): Show HG01168.hp2 HG01516.hp2 HG02300.hp2 HG02723.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0066 a0001c0001t0089 others(1): Show a0001c0001t0003 a0001c0001t0066 a0001c0001t0089 a0001c0001t0102	a0001c0001t0003g0027 a0001c0001t0003g0123 a0001c0001t0066g0170 others(2): Show a0001c0001t0003g0027 a0001c0001t0003g0123 a0001c0001t0066g0170 a0001c0001t0089g0099 a0001c0001t0102g0109	5	180	0.0278	-76	c.542 others(95): Show c.542-16649_542-16574delACGTTATATATGTATATATAACACAC GTTATATATGTATATATAACACACGTTATATATGTATATATAACACACAC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNC1_chr12_94143577_94312675	94177154	TATATATG others(69): Show TATATATGTATATATATATATACGTATATATATGTATATATATATACGTA TATATATATGTGTGTGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18989.hp2 NA18995.hp2 NA18982.hp1 NA18989.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0004t0001 a0001c0005t0002 a0001c0002t0001 a0001c0004t0001 a0001c0005t0002	a0001c0002t0001g0185 a0001c0004t0001g0181 a0001c0005t0002g0252 a0001c0002t0001g0185 a0001c0004t0001g0181 a0001c0005t0002g0252	3	298	0.0101	-76	c.120 others(95): Show c.1204-4285_1204-4210delGTATATATATATATACGTATATATAT GTATATATATATACGTATATATATATGTGTGTGTATATATATACATATAT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PNLDC1_chr6_159795276_159825704	159796294	ATATGGCA others(69): Show ATATGGCAAACCCTGTCTCTACAAAAAAATACAAAAATTAGCTGGGTGCA GTGGCATGCGCCTGTAGTCCCAGCCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	400	0.0025	-76	c.-40 others(87): Show c.-4013_-3938delTATGGCAAACCCTGTCTCTACAAAAAAATACAAA AATTAGCTGGGTGCAGTGGCATGCGCCTGTAGTCCCAGCCAC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding		3981		chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137485270	AGAGTAAA others(69): Show AGAGTAAACCAGACAAACGCTGCAGGTGAGGCCTCATCGGAGTAAACCAG ACAAACGCTGCAGGTAAGGCCTCACTG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	188	0.0053	-76	c.219 others(93): Show c.2198-610_2198-535delCAGTGAGGCCTTACCTGCAGCGTTTGTC TGGTTTACTCCGATGAGGCCTCACCTGCAGCGTTTGTCTGGTTTACTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar

Search by Variant

Search

Search Results