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
IL17B_chr5_149369267_149384292	149370033	T T	TTTTTTTT others(34): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18961.hp1 NA18968.hp1 others(6): Show HG02083.hp1 NA18961.hp1 NA18968.hp1 NA18982.hp2 NA18992.hp1 NA18999.hp2 NA19009.hp1 NA19063.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	386	0.0233	41	c.43 others(52): Show c.4335_*4336insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	IL17B	ENSG00000127743.6	transcript	ENST00000261796.4	protein_coding		4233		chr5	TogoVar
IL17B_chr5_149369267_149384292	149370037	T T	TTTTTTTT others(34): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	386	0.0026	41	c.43 others(52): Show c.4331_*4332insTGTCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAA	IL17B	ENSG00000127743.6	transcript	ENST00000261796.4	protein_coding		4229		chr5	TogoVar
IL17RA_chr22_17080000_17120693	17103951	T T	TGTGGTGT others(34): Show TGTGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(192): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0011 a0014	a0001c0001 a0001c0006 a0001c0013 others(18): Show a0001c0001 a0001c0006 a0001c0013 a0001c0027 a0001c0029 a0001c0030 a0001c0034 a0002c0003 a0002c0005 a0002c0009 a0002c0011 a0003c0002 a0003c0014 a0003c0024 a0003c0025 a0005c0007 a0006c0008 a0007c0012 a0010c0018 a0011c0026 a0014c0031	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(70): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0023 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0043 a0001c0001t0048 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0088 a0001c0001t0096 a0001c0001t0105 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0006t0019 a0001c0013t0031 a0001c0027t0005 a0001c0029t0014 a0001c0030t0002 a0001c0034t0022 a0002c0003t0012 a0002c0003t0025 a0002c0003t0039 a0002c0003t0061 a0002c0003t0109 a0002c0005t0010 a0002c0005t0030 a0002c0005t0040 a0002c0005t0052 a0002c0005t0055 a0002c0005t0063 a0002c0009t0021 a0002c0011t0028 a0002c0011t0054 a0003c0002t0003 a0003c0002t0004 a0003c0002t0005 a0003c0002t0044 a0003c0002t0045 a0003c0002t0046 a0003c0002t0047 a0003c0002t0073 a0003c0002t0075 a0003c0002t0113 a0003c0002t0114 a0003c0014t0002 a0003c0014t0003 a0003c0024t0007 a0003c0025t0026 a0005c0007t0003 a0005c0007t0004 a0006c0008t0022 a0006c0008t0070 a0007c0012t0002 a0007c0012t0118 a0010c0018t0047 a0011c0026t0002 a0014c0031t0023	a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0143 others(182): Show a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0165 a0001c0001t0002g0194 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0222 a0001c0001t0002g0258 a0001c0001t0002g0265 a0001c0001t0002g0275 a0001c0001t0002g0288 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0002g0353 a0001c0001t0002g0364 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0392 a0001c0001t0002g0393 a0001c0001t0005g0003 a0001c0001t0005g0035 a0001c0001t0005g0037 a0001c0001t0005g0049 a0001c0001t0005g0057 a0001c0001t0005g0061 a0001c0001t0005g0064 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0090 a0001c0001t0005g0092 a0001c0001t0007g0308 a0001c0001t0008g0310 a0001c0001t0014g0285 a0001c0001t0014g0286 a0001c0001t0014g0300 a0001c0001t0014g0302 a0001c0001t0014g0311 a0001c0001t0023g0177 a0001c0001t0023g0237 a0001c0001t0023g0390 a0001c0001t0027g0096 a0001c0001t0034g0180 a0001c0001t0035g0140 a0001c0001t0035g0142 a0001c0001t0038g0021 a0001c0001t0038g0130 a0001c0001t0043g0118 a0001c0001t0048g0050 a0001c0001t0048g0068 a0001c0001t0071g0325 a0001c0001t0072g0292 a0001c0001t0074g0303 a0001c0001t0078g0341 a0001c0001t0079g0335 a0001c0001t0080g0366 a0001c0001t0082g0342 a0001c0001t0083g0122 a0001c0001t0084g0350 a0001c0001t0085g0323 a0001c0001t0088g0295 a0001c0001t0096g0227 a0001c0001t0105g0326 a0001c0001t0115g0077 a0001c0001t0116g0101 a0001c0001t0117g0063 a0001c0001t0119g0087 a0001c0006t0019g0060 a0001c0013t0031g0301 a0001c0013t0031g0355 a0001c0027t0005g0088 a0001c0029t0014g0262 a0001c0030t0002g0252 a0001c0034t0022g0017 a0002c0003t0012g0125 a0002c0003t0012g0126 a0002c0003t0012g0131 a0002c0003t0012g0132 a0002c0003t0012g0136 a0002c0003t0012g0190 a0002c0003t0025g0015 a0002c0003t0039g0229 a0002c0003t0039g0230 a0002c0003t0061g0243 a0002c0003t0109g0025 a0002c0005t0010g0002 a0002c0005t0010g0047 a0002c0005t0010g0067 a0002c0005t0010g0078 a0002c0005t0010g0084 a0002c0005t0010g0110 a0002c0005t0010g0112 a0002c0005t0010g0116 a0002c0005t0030g0197 a0002c0005t0030g0198 a0002c0005t0040g0002 a0002c0005t0052g0387 a0002c0005t0055g0226 a0002c0005t0063g0269 a0002c0009t0021g0134 a0002c0009t0021g0176 a0002c0009t0021g0248 a0002c0011t0028g0215 a0002c0011t0028g0383 a0002c0011t0054g0218 a0003c0002t0003g0009 a0003c0002t0003g0013 a0003c0002t0003g0138 a0003c0002t0003g0139 a0003c0002t0003g0149 a0003c0002t0003g0161 a0003c0002t0003g0209 a0003c0002t0003g0211 a0003c0002t0003g0213 a0003c0002t0003g0214 a0003c0002t0003g0260 a0003c0002t0003g0298 a0003c0002t0003g0331 a0003c0002t0003g0337 a0003c0002t0003g0352 a0003c0002t0003g0356 a0003c0002t0003g0363 a0003c0002t0003g0368 a0003c0002t0003g0381 a0003c0002t0004g0001 a0003c0002t0004g0006 a0003c0002t0004g0032 a0003c0002t0004g0034 a0003c0002t0004g0042 a0003c0002t0004g0044 a0003c0002t0004g0046 a0003c0002t0004g0048 a0003c0002t0004g0052 a0003c0002t0004g0054 a0003c0002t0004g0056 a0003c0002t0004g0058 a0003c0002t0004g0059 a0003c0002t0004g0066 a0003c0002t0004g0069 a0003c0002t0004g0070 a0003c0002t0004g0074 a0003c0002t0004g0097 a0003c0002t0004g0111 a0003c0002t0004g0115 a0003c0002t0004g0119 a0003c0002t0005g0023 a0003c0002t0044g0038 a0003c0002t0044g0039 a0003c0002t0045g0006 a0003c0002t0045g0045 a0003c0002t0046g0001 a0003c0002t0047g0099 a0003c0002t0073g0200 a0003c0002t0075g0291 a0003c0002t0113g0098 a0003c0002t0114g0075 a0003c0014t0002g0345 a0003c0014t0003g0333 a0003c0024t0007g0297 a0003c0025t0026g0113 a0005c0007t0003g0168 a0005c0007t0003g0169 a0005c0007t0003g0172 a0005c0007t0004g0073 a0005c0007t0004g0091 a0005c0007t0004g0109 a0006c0008t0022g0174 a0006c0008t0022g0228 a0006c0008t0070g0241 a0007c0012t0002g0012 a0007c0012t0002g0162 a0007c0012t0118g0117 a0010c0018t0047g0022 a0011c0026t0002g0371 a0014c0031t0023g0234	195	416	0.4688	41	c.846 others(56): Show c.846+410_846+411insGGAGAGTGGTGTGGCTGGGAGTGGGGAGCG TGCACAGGTGG	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17104286	T T	TGGAGTGG others(34): Show TGGAGTGGGGAGCGTGCACAGGTGGAGAGAGTGGTGTGGCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02965.hp1 HG02976.hp2 others(1): Show HG00544.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0008 a0002c0011t0028 a0002c0011t0054 a0001c0001t0008 a0002c0011t0028 a0002c0011t0054	a0001c0001t0008g0310 a0002c0011t0028g0215 a0002c0011t0028g0383 others(1): Show a0001c0001t0008g0310 a0002c0011t0028g0215 a0002c0011t0028g0383 a0002c0011t0054g0218	4	416	0.0096	41	c.847 others(56): Show c.847-370_847-330dupAGTGGTGTGGCTGGGAGTGGGGAGCGTGCA CAGGTGGAGAG	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL1RAPL1_chrX_28582446_29961718	29333417	A A	ACCTCCCT others(34): Show ACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00621.hp1 others(34): Show HG00280.hp1 HG00408.hp1 HG00621.hp1 HG01099.hp1 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02280.hp1 HG02602.hp1 HG02622.hp2 HG02738.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03492.hp1 HG04199.hp1 NA18959.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19058.hp1 NA19070.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0003 a0001c0001 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0002c0004t0002 a0003c0003t0001	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0067 others(34): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0003g0023 a0001c0001t0003g0034 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0049 a0001c0001t0004g0079 a0001c0001t0005g0056 a0001c0001t0005g0065 a0001c0001t0005g0083 a0001c0001t0006g0098 a0001c0001t0006g0102 a0001c0001t0007g0107 a0001c0001t0008g0060 a0001c0001t0014g0097 a0001c0001t0015g0046 a0001c0001t0016g0045 a0001c0001t0017g0014 a0002c0004t0002g0044 a0003c0003t0001g0088	37	135	0.2741	41	c.362 others(60): Show c.362+50228_362+50229insACCCCCCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCG	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	104855681	G G	GTGTTTTT others(34): Show GTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	141	0.0071	41	c.82+ others(60): Show c.82+196687_82+196688insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0061 a0003c0004t0061	a0003c0004t0061g0303 a0003c0004t0061g0303	1	322	0.0031	41	c.852 others(56): Show c.852+572_852+573insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897000	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	322	0.0031	41	c.852 others(56): Show c.852+572_852+573insAAATATATATATATATATATATATATATAT ATATATATATA	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	322	0.0031	41	c.852 others(56): Show c.852+587_852+588insATATATATATATATATATATATATATTTTT TTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0059 a0003c0004t0059	a0003c0004t0059g0305 a0003c0004t0059g0305	1	322	0.0031	41	c.852 others(56): Show c.852+587_852+588insATATATATATATATATATATATATTTTTTT TTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL31RA_chr5_55846357_55927850	55897015	A A	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03139.hp2 NA19030.hp2 HG02698.hp1 HG03139.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0095 a0002c0002t0012 a0002c0002t0095	a0002c0002t0012g0097 a0002c0002t0012g0102 a0002c0002t0095g0085 a0002c0002t0012g0097 a0002c0002t0012g0102 a0002c0002t0095g0085	3	322	0.0093	41	c.852 others(56): Show c.852+587_852+588insATATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	IL31RA	ENSG00000164509.16	transcript	ENST00000652347.2	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
IL3RA_chrX_1331785_1387689	1382257	T T	TGGGATGA others(34): Show TGGGATGACAGGCGTGAGCCACCGCGCCTGGTCCAAAGTGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp1 others(46): Show HG00099.hp1 HG00140.hp1 HG00558.hp1 HG01123.hp1 HG01192.hp2 HG01433.hp2 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp2 HG02622.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19056.hp2 NA19080.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0016	a0001c0001 a0001c0003 a0001c0020 others(8): Show a0001c0001 a0001c0003 a0001c0020 a0004c0018 a0005c0012 a0006c0011 a0007c0010 a0008c0009 a0009c0008 a0011c0014 a0016c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0003t0004 a0001c0020t0009 a0004c0018t0003 a0005c0012t0003 a0006c0011t0004 a0007c0010t0001 a0008c0009t0012 a0009c0008t0004 a0011c0014t0004 a0016c0004t0007	a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0001g0104 others(46): Show a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0002g0029 a0001c0001t0002g0063 a0001c0001t0003g0009 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0036 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0094 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0004g0040 a0001c0001t0004g0052 a0001c0001t0004g0060 a0001c0001t0004g0062 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0076 a0001c0001t0004g0092 a0001c0001t0006g0078 a0001c0001t0006g0080 a0001c0001t0006g0100 a0001c0001t0007g0097 a0001c0001t0008g0095 a0001c0001t0010g0039 a0001c0001t0011g0013 a0001c0001t0013g0091 a0001c0001t0015g0096 a0001c0003t0004g0066 a0001c0020t0009g0098 a0004c0018t0003g0112 a0005c0012t0003g0020 a0006c0011t0004g0059 a0007c0010t0001g0007 a0008c0009t0012g0041 a0009c0008t0004g0068 a0011c0014t0004g0044 a0016c0004t0007g0093	49	115	0.4261	41	c.106 others(58): Show c.1063-117_1063-116insCCACCGCGCCTGGTCCAAAGTGCCGGGA TGACAGGCGTGAG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IMMP2L_chr7_110657644_111567492	110688940	A A	AAACATTT others(34): Show AAACATTTCATTATCTTTAGGGGGTGGAATTACAGGTCATCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03453.hp2 NA19240.hp2 HG02896.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0002g0053 a0001c0001t0001g0023 a0001c0001t0001g0039 a0001c0001t0002g0053	3	84	0.0357	41	c.409 others(60): Show c.409-25260_409-25220dupAGATGACCTGTAATTCCACCCCCTAA AGATAATGAAATGTT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	5/5			chr7	TogoVar
IMPA1_chr8_81651914_81691325	81684266	G G	GTATACCA others(34): Show GTATACCATACATAAGTATATTTAGATACTATATATAGTATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	380	0.0026	41	c.-25 others(58): Show c.-25+1945_-25+1985dupTATACTATATATAGTATCTAAATATACT TATGTATGGTATA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
IMPA1_chr8_81651914_81691325	81684560	A A	AATGTGTA others(34): Show AATGTGTAGTATATATACTACACATAGTATCTTTAGATACTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19086.hp1 HG03486.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0142 a0001c0001t0001g0143	2	380	0.0053	41	c.-25 others(58): Show c.-25+1691_-25+1692insAAGTATCTAAAGATACTATGTGTAGTAT ATATACTACACAT	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
IMPA1_chr8_81651914_81691325	81684842	G G	GTAGTATA others(34): Show GTAGTATATATACTATACATAAGTATATTTAGATACTATGTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18522.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0197 a0001c0001t0007g0104 a0001c0001t0001g0197 a0001c0001t0007g0104	2	380	0.0053	41	c.-25 others(58): Show c.-25+1369_-25+1409dupTACATAGTATCTAAATATACTTATGTAT AGTATATATACTA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GAGGGGCA others(34): Show GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	204	0.0049	41	c.978 others(58): Show c.978-2483_978-2482insAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAAGGA	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15			chr10	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18977.hp2 HG03834.hp1 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0331 a0002c0002t0003g0332 a0002c0002t0003g0331 a0002c0002t0003g0332	2	346	0.0058	41	c.281 others(58): Show c.281-1161_281-1160insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18962.hp2 HG00438.hp1 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0003g0326 a0002c0002t0003g0327	2	346	0.0058	41	c.281 others(58): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT TTTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0314 a0002c0002t0003g0314	1	346	0.0029	41	c.281 others(58): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATTTTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0308 a0002c0002t0003g0308	1	346	0.0029	41	c.281 others(58): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATTTTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0030 a0002c0002t0007g0030	1	346	0.0029	41	c.281 others(58): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATATTTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5E_chr9_136423619_136444845	136431390	C C	CCCCCCCA others(34): Show CCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18983.hp1 NA18973.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0105 a0001c0001t0001g0069 a0001c0001t0001g0105	2	382	0.0052	41	c.155 others(58): Show c.1550-314_1550-274dupCGGGCGTGGAGGGAGATGAGGAGAGGTG AGGGCCTGGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INPP5E_chr9_136423619_136444845	136431409	C C	CTCCTCAT others(34): Show CTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01346.hp2 NA18990.hp2 HG00639.hp1 HG01346.hp2 NA18990.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0001 a0008c0017t0001 a0001c0001t0001 a0008c0017t0001	a0001c0001t0001g0074 a0001c0001t0001g0102 a0008c0017t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0102 a0008c0017t0001g0063	3	382	0.0079	41	c.155 others(58): Show c.1550-293_1550-292insAAGGTGAGGGCCTGGGGGGCGGGCGTGG AGGGAGATGAGGA	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INS_chr11_2154779_2166209	2161648	A A	ACACCCCT others(34): Show ACACCCCTATCCCCAGACCCCTGTCCCCACACCCCTGTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG03453.hp2 NA19030.hp1 HG02109.hp2 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	376	0.0080	41	c.-49 others(50): Show c.-499_-498insGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGATAG GGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		440		chr11	TogoVar
INTS11_chr1_1306600_1329660	1324144	C C	CTGGGAGG others(34): Show CTGGGAGGCTGAGAGGCTGGGGAGCTGGGGAGCTGGGGGGCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0204 a0001c0010t0007g0204	1	354	0.0028	41	c.28+ others(54): Show c.28+436_28+437insAGCCCCCCAGCTCCCCAGCTCCCCAGCCTCTC AGCCTCCCA	INTS11	ENSG00000127054.22	transcript	ENST00000435064.6	protein_coding	1/16			chr1	TogoVar
INTS15_chr7_6585021_6613726	6613356	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	394	0.0025	41	c.51 others(52): Show c.5195_*5196insATATATATATATATATATATATATATATATATAT ATATATA	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding		4631		chr7	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18971.hp2 HG02148.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0063 a0001c0001t0001g0085	2	314	0.0064	41	c.85- others(56): Show c.85-5948_85-5947insAAAAAAAAAAAAATATATATATATATATAT ATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	314	0.0032	41	c.85- others(56): Show c.85-5948_85-5947insAAAAAAAAAAATATATATATATATATATAT ATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(34): Show AAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	314	0.0032	41	c.85- others(56): Show c.85-5948_85-5947insAAAAAAAAATATATATATATATATATATAT ATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(34): Show AAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18953.hp2 NA19079.hp1 HG00558.hp2 NA18953.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0002g0261 a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0002g0261	3	314	0.0096	41	c.85- others(56): Show c.85-5948_85-5947insAAAAAAATATATATATATATATATATATAT ATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA19060.hp1 NA18968.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0116 a0001c0001t0013g0117 a0001c0001t0001g0116 a0001c0001t0013g0117	2	314	0.0064	41	c.85- others(56): Show c.85-5948_85-5947insAAAAATATATATATATATATATATATATAT ATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	314	0.0032	41	c.85- others(56): Show c.85-5948_85-5947insAAATATATATATATATATATATATATATAT ATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(34): Show GCATGTGTGCGCGTGCGCGCGCCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0012 a0002c0003t0010g0012	1	420	0.0024	41	c.-39 others(52): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCCGCGCGCACACAC ACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(34): Show GCATGTGTGCGCGTGCGCGCGCGCGCGCGACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0015	1	420	0.0024	41	c.-39 others(52): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCGCGCGACACAC ACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar
ISG15_chr1_1008497_1019540	1009374	C C	CCGAGAAT others(34): Show CCGAGAATCGTAGAGACTGCGGGGGGATAACATCAGAGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	382	0.0026	41	c.-42 others(52): Show c.-4200_-4199insCGAGAATCGTAGAGACTGCGGGGGGATAACATCA GAGCGGG	ISG15	ENSG00000187608.10	transcript	ENST00000649529.1	protein_coding		4122		chr1	TogoVar
ITGA11_chr15_68291532_68437163	68310008	C C	CTGGAAGG others(34): Show CTGGAAGGCGGACGCCTAATGATTTTGAAATCCCCTCATGTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0053 a0007c0007t0053	a0007c0007t0053g0110 a0007c0007t0053g0110	1	242	0.0041	41	c.317 others(58): Show c.3174+985_3174+986insCACATGAGGGGATTTCAAAATCATTAGG CGTCCGCCTTCCA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	26/29			chr15	TogoVar
ITGA1_chr5_52782916_52964209	52911985	A A	ATATACTA others(34): Show ATATACTATATATAGTGTATCTACTATATATACTATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00597.hp1 others(42): Show HG00099.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01256.hp2 HG01258.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02523.hp1 HG02602.hp2 HG02922.hp1 HG03239.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18939.hp2 NA18941.hp1 NA18946.hp1 NA18956.hp1 NA18963.hp2 NA18974.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19011.hp1 NA19085.hp2 NA19090.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0012 a0001c0015 a0001c0018 a0001c0021 a0002c0006 a0002c0010 a0007c0022 a0008c0019 a0010c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(33): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0027 a0001c0001t0068 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0012 a0001c0002t0094 a0001c0003t0006 a0001c0003t0007 a0001c0003t0011 a0001c0003t0013 a0001c0003t0066 a0001c0004t0001 a0001c0004t0005 a0001c0004t0007 a0001c0004t0013 a0001c0012t0001 a0001c0012t0009 a0001c0012t0025 a0001c0012t0096 a0001c0015t0004 a0001c0018t0005 a0001c0021t0043 a0002c0006t0002 a0002c0006t0019 a0002c0010t0019 a0007c0022t0007 a0008c0019t0007 a0010c0023t0095	a0001c0001t0001g0044 a0001c0001t0001g0232 a0001c0001t0004g0076 others(42): Show a0001c0001t0001g0044 a0001c0001t0001g0232 a0001c0001t0004g0076 a0001c0001t0004g0095 a0001c0001t0005g0046 a0001c0001t0005g0064 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0168 a0001c0001t0010g0102 a0001c0001t0017g0119 a0001c0001t0027g0274 a0001c0001t0068g0063 a0001c0002t0003g0113 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0006g0096 a0001c0002t0007g0199 a0001c0002t0012g0252 a0001c0002t0094g0217 a0001c0003t0006g0200 a0001c0003t0007g0058 a0001c0003t0011g0262 a0001c0003t0013g0299 a0001c0003t0066g0215 a0001c0004t0001g0098 a0001c0004t0005g0224 a0001c0004t0007g0107 a0001c0004t0007g0196 a0001c0004t0013g0302 a0001c0012t0001g0059 a0001c0012t0009g0301 a0001c0012t0025g0052 a0001c0012t0096g0062 a0001c0015t0004g0043 a0001c0015t0004g0061 a0001c0018t0005g0140 a0001c0021t0043g0309 a0002c0006t0002g0078 a0002c0006t0019g0066 a0002c0006t0019g0213 a0002c0010t0019g0151 a0007c0022t0007g0318 a0008c0019t0007g0122 a0010c0023t0095g0148	45	322	0.1398	41	c.185 others(60): Show c.1857+1567_1857+1568insATACTATATATAGTGTATCTACTATA TATACTATATATACT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITIH5_chr10_7554270_7671966	7566764	A A	AGAGAGAA others(34): Show AGAGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02523.hp1 HG02523.hp2 others(1): Show HG02027.hp2 HG02523.hp1 HG02523.hp2 NA19005.hp2	a0003 a0003	a0003c0002 a0003c0005 a0003c0002 a0003c0005	a0003c0002t0001 a0003c0005t0001 a0003c0002t0001 a0003c0005t0001	a0003c0002t0001g0273 a0003c0005t0001g0146 a0003c0005t0001g0151 others(1): Show a0003c0002t0001g0273 a0003c0005t0001g0146 a0003c0005t0001g0151 a0003c0005t0001g0279	4	342	0.0117	41	c.215 others(58): Show c.2150-358_2150-357insCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566765	A A	ACAGAGAG others(34): Show ACAGAGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0048 a0003c0002t0001g0048	1	342	0.0029	41	c.215 others(58): Show c.2150-359_2150-358insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCTCTG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
JAKMIP1_chr4_6021199_6205549	6171098	T T	TACCACCA others(34): Show TACCACCATCATCACCACCACATCATCATCTCCATCACCAGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0220 a0001c0003t0001g0220	1	233	0.0043	41	c.-14 others(62): Show c.-148+29114_-148+29154dupGCTGGTGATGGAGATGATGATGTG GTGGTGATGATGGTGGT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	250	0.0040	41	c.-14 others(62): Show c.-149+40300_-149+40301insAAATATATATATATATATATATAT ATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0177 a0001c0001t0013g0177	1	250	0.0040	41	c.-14 others(62): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03688.hp2 HG00621.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0002g0150 a0001c0008t0001g0157 a0001c0001t0002g0150 a0001c0008t0001g0157	2	250	0.0080	41	c.-14 others(62): Show c.-149+40300_-149+40301insAAAAAAATATATATATATATATAT ATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0146 a0001c0008t0001g0146	1	250	0.0040	41	c.-14 others(62): Show c.-149+40300_-149+40301insAAAAAAAAATATATATATATATAT ATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp2 NA20300.hp1 NA19062.hp1 NA19062.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0012g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0012g0247	3	328	0.0092	41	c.67+ others(58): Show c.67+20895_67+20896insATATATATATATATATATATATATATTT TTTTTTTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
KANK1_chr9_499695_751103	514800	T T	TATATCTA others(34): Show TATATCTAGGAGTGCAATTTTTGGGCCATGCAGTTCAACTGG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0049 a0003c0003t0001g0049	1	254	0.0039	41	c.-84 others(60): Show c.-84+10048_-84+10088dupTATCTAGGAGTGCAATTTTTGGGCCA TGCAGTTCAACTGGA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA18964.hp2 HG02630.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0250 a0002c0002t0001g0263 a0001c0001t0001g0250 a0002c0002t0001g0263	2	380	0.0053	41	c.37 others(52): Show c.3761_*3762insATATATATATATATATATATATATATATATATAT ATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG03225.hp2 HG02257.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0252 a0001c0001t0001g0253	2	380	0.0053	41	c.37 others(52): Show c.3761_*3762insAAAAAAAAATATATATATATATATATATATATAT ATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(34): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02273.hp1 NA18942.hp1 HG02273.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0104 a0002c0002t0001g0106	2	146	0.0137	41	c.227 others(60): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAAAGAAAGAAAGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 2600 hits)