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
IL17F_chr6_52231681_52249500	52248286	TTATCTTT others(34): Show TTATCTTTTTTTACATTCATTAAGATTGGGTAAAATTACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	430	0.0023	-41	c.-38 others(52): Show c.-3898_-3858delTGTGTAATTTTACCCAATCTTAATGAATGTAAAA AAAGATA	IL17F	ENSG00000112116.11	transcript	ENST00000336123.5	protein_coding		3787		chr6	TogoVar
IL17REL_chr22_49986811_50017765	49999678	CGGAGGTG others(34): Show CGGAGGTGGGTGGGGCCTAGGCCTGGCCGGGGGCGGGGCGCG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA18955.hp1 NA18964.hp1 HG01074.hp1 NA18955.hp1 NA18964.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0015 a0003c0004t0015	a0003c0004t0015g0066 a0003c0004t0015g0069 a0003c0004t0015g0072 a0003c0004t0015g0066 a0003c0004t0015g0069 a0003c0004t0015g0072	3	438	0.0068	-41	c.690 others(56): Show c.690+109_690+149delCGCGCCCCGCCCCCGGCCAGGCCTAGGCCC CACCCACCTCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	7/14			chr22	TogoVar
IL17REL_chr22_49986811_50017765	49999738	GGGTGGGC others(34): Show GGGTGGGCGGGGCCTAAGGCTGACCGGGGCCCGGGGCGCGGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0316 a0001c0003t0048g0316	1	183	0.0055	-41	c.690 others(54): Show c.690+49_690+89delTCCGCGCCCCGGGCCCCGGTCAGCCTTAGGCC CCGCCCACC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	7/14			chr22	TogoVar
IL1RAPL2_chrX_104561199_105772829	104585190	CATGTATA others(34): Show CATGTATATGTATTATATATACACATATATGTATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02717.hp1 others(5): Show HG02486.hp1 HG02559.hp2 HG02717.hp1 HG02895.hp1 HG03471.hp1 HG03579.hp1 NA18906.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 others(5): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0002t0001g0070	8	123	0.0650	-41	c.-20 others(60): Show c.-20+18142_-20+18182delGTATATGTATTATATATACACATATA TGTATATATGTGTAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL36B_chr2_113017089_113057867	113051004	TGATCCTT others(34): Show TGATCCTTGAATCGGAGGCCGTGCCTCTCAGCGTGGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	402	0.0025	-41	c.-58 others(58): Show c.-58+1772_-58+1812delGGGAGGCCACGCTGAGAGGCACGGCCTC CGATTCAAGGATC	IL36B	ENSG00000136696.11	transcript	ENST00000259213.9	protein_coding	1/5			chr2	TogoVar
IMPA1_chr8_81651914_81691325	81684266	GTATACCA others(34): Show GTATACCATACATAAGTATATTTAGATACTATATATAGTATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01070.hp1 others(13): Show HG00323.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01884.hp1 HG01891.hp2 HG02486.hp1 HG02698.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03490.hp2 HG03516.hp1 HG03688.hp1 HG03710.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0092 others(9): Show a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0099 a0001c0001t0007g0131 a0001c0001t0011g0022	16	367	0.0436	-41	c.-25 others(58): Show c.-25+1945_-25+1985delTATACTATATATAGTATCTAAATATACT TATGTATGGTATA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
IMPA1_chr8_81651914_81691325	81684842	GTAGTATA others(34): Show GTAGTATATATACTATACATAAGTATATTTAGATACTATGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(200): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0010 a0001c0003t0002	a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0041 others(119): Show a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0079 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0004g0006 a0001c0001t0004g0028 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0005g0014 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0006g0020 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0185 a0001c0001t0006g0187 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0006g0207 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0008g0008 a0001c0001t0008g0023 a0001c0001t0008g0047 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0010g0007 a0001c0001t0010g0129 a0001c0001t0012g0040 a0001c0001t0012g0091 a0001c0001t0012g0181 a0001c0001t0012g0182 a0001c0001t0013g0029 a0001c0001t0013g0101 a0001c0001t0013g0218 a0001c0001t0014g0116 a0001c0001t0014g0128 a0001c0001t0014g0183 a0001c0001t0015g0216 a0001c0001t0015g0217 a0001c0001t0017g0133 a0001c0001t0019g0130 a0001c0001t0020g0196 a0001c0001t0025g0073 a0001c0001t0026g0119 a0001c0001t0027g0117 a0001c0002t0010g0033 a0001c0003t0002g0114	203	375	0.5413	-41	c.-25 others(58): Show c.-25+1369_-25+1409delTACATAGTATCTAAATATACTTATGTAT AGTATATATACTA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
INPP5D_chr2_233055342_233212903	233125538	GCTGATGG others(34): Show GCTGATGGCCACAGTGGGGCAGACACTGCACTAGCCAGGGCC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0182 a0001c0001t0009g0182	1	308	0.0032	-41	c.350 others(56): Show c.350-203_350-163delATGGCCACAGTGGGGCAGACACTGCACTAG CCAGGGCCCTG	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5E_chr9_136423619_136444845	136431266	CCCCCCCA others(34): Show CCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCG	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	373	0.0027	-41	c.155 others(58): Show c.1550-190_1550-150delCGGGCGTGGAGGGAGATGAGGAGAGGTG AGGGCCTGGGGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INPP5E_chr9_136423619_136444845	136431451	CTCCTCAT others(34): Show CTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTT	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03654.hp1 HG04228.hp2 HG02698.hp2 HG03654.hp1 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	3	378	0.0079	-41	c.154 others(58): Show c.1549+332_1550-335delAAGGTGAGGGCCTGGGGGGCGGGCGTGG AGGGAGATGAGGA	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INSR_chr19_7107265_7299414	7124557	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0072 a0001c0018t0072	a0001c0018t0072g0079 a0001c0018t0072g0079	1	298	0.0034	-41	c.325 others(58): Show c.3258+685_3258+725delATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124565	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0127 a0001c0005t0016g0127	1	293	0.0034	-41	c.325 others(58): Show c.3258+677_3258+717delATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124567	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0183 a0001c0002t0008g0183	1	290	0.0034	-41	c.325 others(58): Show c.3258+675_3258+715delATATATATATATATATATATTTTTTTTT TTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7124569	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 NA20129.hp1 HG02451.hp2 HG02572.hp1 NA20129.hp1	a0001 a0001	a0001c0006 a0001c0024 a0001c0006 a0001c0024	a0001c0006t0016 a0001c0006t0051 a0001c0024t0119 a0001c0006t0016 a0001c0006t0051 a0001c0024t0119	a0001c0006t0016g0105 a0001c0006t0051g0028 a0001c0024t0119g0263 a0001c0006t0016g0105 a0001c0006t0051g0028 a0001c0024t0119g0263	3	288	0.0104	-41	c.325 others(58): Show c.3258+673_3258+713delATATATATATATATATATATATTTTTTT TTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21			chr19	TogoVar
INS_chr11_2154779_2166209	2161592	ACACCCCT others(34): Show ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 NA18967.hp1 NA19090.hp2 HG02071.hp2 NA18967.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	289	0.0104	-41	c.-48 others(50): Show c.-483_-443delGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		384		chr11	TogoVar
IPO11_chr5_62407763_62633582	62598453	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	327	0.0031	-41	c.267 others(60): Show c.2679-3310_2679-3270delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTC	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29			chr5	TogoVar
IRAK2_chr3_10159919_10248745	10237604	GAGACCAT others(34): Show GAGACCATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0247 a0003c0004t0001g0247	1	290	0.0034	-41	c.147 others(60): Show c.1474-1142_1474-1102delGACCATCTTGGCTAACATGGTGAAAC CCTGTCTCTACTAAA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK3_chr12_66184214_66259622	66257872	TTACTATA others(34): Show TTACTATAAAATGAGTTCTGCATCAGAACTGTGTTTAAAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0145 a0002c0002t0026g0145	1	344	0.0029	-41	c.97 others(52): Show c.9702_*9742delTACTATAAAATGAGTTCTGCATCAGAACTGTGTT TAAAGAG	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding		3251		chr12	TogoVar
ITGA11_chr15_68291532_68437163	68397249	TTTTATAA others(34): Show TTTTATAAAATATTATAAAAATATTAAATTAAAAATTTTAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(81): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02004.hp2 HG02055.hp2 HG02129.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18971.hp2 NA18977.hp2 NA18998.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0013 a0019 a0020	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0024 a0001c0028 a0001c0034 a0001c0036 a0001c0037 a0001c0056 a0001c0061 a0002c0008 a0002c0011 a0002c0012 a0002c0016 a0002c0035 a0003c0004 a0003c0009 a0003c0014 a0003c0031 a0003c0062 a0004c0013 a0004c0029 a0004c0083 a0005c0018 a0005c0071 a0005c0072 a0006c0047 a0007c0007 a0008c0020 a0008c0044 a0010c0021 a0013c0045 a0019c0049 a0020c0074	a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 others(50): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 a0001c0001t0037 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0021 a0001c0003t0033 a0001c0005t0001 a0001c0005t0005 a0001c0005t0012 a0001c0006t0003 a0001c0006t0004 a0001c0006t0008 a0001c0024t0001 a0001c0028t0012 a0001c0034t0001 a0001c0036t0001 a0001c0036t0003 a0001c0037t0001 a0001c0056t0001 a0001c0061t0001 a0002c0008t0007 a0002c0008t0011 a0002c0011t0016 a0002c0011t0031 a0002c0012t0001 a0002c0016t0002 a0002c0035t0002 a0003c0004t0001 a0003c0009t0002 a0003c0009t0023 a0003c0014t0001 a0003c0014t0018 a0003c0031t0001 a0003c0062t0004 a0004c0013t0047 a0004c0013t0048 a0004c0029t0003 a0004c0083t0007 a0005c0018t0018 a0005c0071t0002 a0005c0072t0013 a0006c0047t0040 a0007c0007t0001 a0007c0007t0010 a0008c0020t0029 a0008c0044t0001 a0010c0021t0004 a0013c0045t0052 a0019c0049t0006 a0020c0074t0012	a0001c0001t0001g0045 a0001c0001t0001g0074 a0001c0001t0001g0075 others(80): Show a0001c0001t0001g0045 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0123 a0001c0001t0001g0162 a0001c0001t0001g0193 a0001c0001t0001g0229 a0001c0001t0014g0058 a0001c0001t0014g0184 a0001c0001t0015g0001 a0001c0001t0015g0172 a0001c0001t0037g0047 a0001c0002t0001g0004 a0001c0002t0001g0038 a0001c0002t0001g0056 a0001c0003t0001g0007 a0001c0003t0001g0059 a0001c0003t0001g0093 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0003t0001g0179 a0001c0003t0001g0189 a0001c0003t0003g0063 a0001c0003t0021g0168 a0001c0003t0033g0053 a0001c0005t0001g0113 a0001c0005t0005g0221 a0001c0005t0012g0182 a0001c0006t0003g0228 a0001c0006t0004g0133 a0001c0006t0008g0233 a0001c0006t0008g0234 a0001c0024t0001g0097 a0001c0028t0012g0137 a0001c0034t0001g0155 a0001c0036t0001g0174 a0001c0036t0003g0210 a0001c0037t0001g0173 a0001c0037t0001g0190 a0001c0056t0001g0083 a0001c0061t0001g0050 a0002c0008t0007g0191 a0002c0008t0011g0030 a0002c0011t0016g0151 a0002c0011t0031g0026 a0002c0012t0001g0054 a0002c0012t0001g0065 a0002c0016t0002g0051 a0002c0016t0002g0085 a0002c0016t0002g0154 a0002c0016t0002g0163 a0002c0035t0002g0095 a0002c0035t0002g0096 a0003c0004t0001g0061 a0003c0004t0001g0109 a0003c0004t0001g0126 a0003c0004t0001g0135 a0003c0004t0001g0170 a0003c0009t0002g0225 a0003c0009t0023g0171 a0003c0009t0023g0180 a0003c0014t0001g0010 a0003c0014t0018g0232 a0003c0031t0001g0035 a0003c0062t0004g0025 a0004c0013t0047g0230 a0004c0013t0048g0032 a0004c0029t0003g0036 a0004c0083t0007g0143 a0005c0018t0018g0231 a0005c0071t0002g0209 a0005c0072t0013g0039 a0006c0047t0040g0115 a0007c0007t0001g0055 a0007c0007t0010g0088 a0007c0007t0010g0089 a0007c0007t0010g0112 a0008c0020t0029g0127 a0008c0044t0001g0040 a0010c0021t0004g0239 a0013c0045t0052g0008 a0019c0049t0006g0240 a0020c0074t0012g0022	84	228	0.3684	-41	c.164 others(58): Show c.164+5628_164+5668delTTTAAAATTTTTAATTTAATATTTTTAT AATATTTTATAAA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA3_chr17_50051110_50095481	50092635	GTCTCAGT others(34): Show GTCTCAGTCAGTTACCCAGATTGGAGTGCCGTGGCACAATCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03579.hp2 HG03831.hp2 others(1): Show HG02738.hp1 HG03579.hp2 HG03831.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0022 a0004c0008 a0001c0001 a0001c0022 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 a0004c0008t0001	a0001c0001t0001g0057 a0001c0001t0002g0324 a0001c0022t0001g0264 others(1): Show a0001c0001t0001g0057 a0001c0001t0002g0324 a0001c0022t0001g0264 a0004c0008t0001g0369	4	400	0.0100	-41	c.35 others(52): Show c.3558_*3598delTCTCAGTCAGTTACCCAGATTGGAGTGCCGTGGC ACAATCA	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding		2155		chr17	TogoVar
ITGA8_chr10_15508954_15724922	15644453	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATAGA	T T	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0206 a0001c0001t0004g0206	1	218	0.0046	-41	c.120 others(58): Show c.1208-273_1208-233delTCTATATATATATATATATATATATATA TATATATATATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	12/29			chr10	TogoVar
ITGAM_chr16_31254975_31337877	31334500	CTTTCCCT others(34): Show CTTTCCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0073 a0001c0002t0007g0073	1	242	0.0041	-41	c.27 others(52): Show c.2794_*2834delTTTCCCTTCCTTCCTTCCTTCCTTTCCTTCCTTC CTTCCTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		1624		chr16	TogoVar
ITIH2_chr10_7698316_7754520	7737631	ATATTCTA others(34): Show ATATTCTATAGAATATTCTATATTATATTCTATATTATATTC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	378	0.0026	-41	c.195 others(58): Show c.1958-986_1958-946delTCTATAGAATATTCTATATTATATTCTA TATTATATTCTAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
JHY_chr11_122877759_122968862	122887307	ATTATATC others(34): Show ATTATATCGTGTTAGTTTTTTTTGTGTGTGGGACGGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0151 a0001c0001t0029g0151	1	330	0.0030	-41	c.344 others(58): Show c.344+1115_344+1155delTTATATCGTGTTAGTTTTTTTTGTGTGT GGGACGGGGGAGG	JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	2/8			chr11	TogoVar
JOSD1_chr22_38680543_38705943	38705128	AAAGTGGT others(34): Show AAAGTGGTGAGGTGTTTTTTGGCTTTTAATTTTAGCTGCTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	374	0.0027	-41	c.-50 others(52): Show c.-5001_-4961delCAAGCAGCTAAAATTAAAAGCCAAAAAACACCTC ACCACTT	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding		4186		chr22	TogoVar
JPH2_chr20_44101590_44192188	44133997	ATATATAA others(34): Show ATATATAAATATATATATTATAAATATATATAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02155.hp2 NA20905.hp2 HG00280.hp1 HG02155.hp2 NA20905.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0024 a0001c0007t0028 a0001c0007t0024 a0001c0007t0028	a0001c0007t0024g0091 a0001c0007t0028g0236 a0001c0007t0028g0283 a0001c0007t0024g0091 a0001c0007t0028g0236 a0001c0007t0028g0283	3	336	0.0089	-41	c.117 others(62): Show c.1170-15415_1170-15375delAATATATATTTATATATATTTATA ATATATATATTTATATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134264	TTTATTAT others(34): Show TTTATTATATATACATATAAATATTTATTATAAATATAATAA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0091 a0002c0020t0091	a0002c0020t0091g0249 a0002c0020t0091g0249	1	336	0.0030	-41	c.117 others(62): Show c.1170-15682_1170-15642delTTATTATATTTATAATAAATATTT ATATGTATATATAATAA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPT1_chr17_75130248_75159512	75142588	AGGGAGGG others(34): Show AGGGAGGGAGGGAGGGGAAGGGGGAGAGAGGAGGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18947.hp2 NA18945.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	385	0.0052	-41	c.316 others(58): Show c.316+4037_316+4077delCTCCCTCCCCTCCTCTCTCCCCCTTCCC CTCCCTCCCTCCC	JPT1	ENSG00000189159.16	transcript	ENST00000409753.8	protein_coding	4/4			chr17	TogoVar
KAZN_chr1_14593685_15123043	14681623	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0045 a0001c0001t0020g0045	1	146	0.0068	-41	c.226 others(60): Show c.226+82402_226+82442delATATATATATATATATATATATATAT ATATATATTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681631	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA20752.hp2 HG01258.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0007 a0002c0006t0006 a0001c0001t0007 a0002c0006t0006	a0001c0001t0007g0111 a0002c0006t0006g0112 a0001c0001t0007g0111 a0002c0006t0006g0112	2	141	0.0142	-41	c.226 others(60): Show c.226+82410_226+82450delATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681633	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00558.hp2 others(8): Show HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG02083.hp2 HG03195.hp2 HG03209.hp1 NA18970.hp1 NA18986.hp1 NA19056.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0002c0004 a0003c0005	a0001c0001t0002 a0001c0001t0003 a0001c0013t0021 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0013t0021 a0002c0002t0001 a0002c0002t0012 a0002c0004t0001 a0003c0005t0002	a0001c0001t0002g0060 a0001c0001t0002g0109 a0001c0001t0003g0056 others(8): Show a0001c0001t0002g0060 a0001c0001t0002g0109 a0001c0001t0003g0056 a0001c0013t0021g0051 a0002c0002t0001g0020 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0012g0098 a0002c0002t0012g0099 a0002c0004t0001g0032 a0003c0005t0002g0074	11	138	0.0797	-41	c.226 others(60): Show c.226+82412_226+82452delATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681635	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0100 a0003c0005t0002g0100	1	134	0.0075	-41	c.226 others(60): Show c.226+82414_226+82454delATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14918688	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18906.hp1 HG03041.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0134 a0002c0002t0001g0047 a0002c0002t0001g0134	2	142	0.0141	-41	c.227 others(60): Show c.227-41994_227-41954delAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNA10_chr1_110512217_110524175	110516187	GCACTTTC others(34): Show GCACTTTCCTGGAGCAGTTCTCTAGGGCCCACAGTTCCCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	-41	c.10 others(52): Show c.1024_*1064delTGTGGGAACTGTGGGCCCTAGAGAACTGCTCCAG GAAAGTG	KCNA10	ENSG00000143105.7	transcript	ENST00000369771.4	protein_coding		1029		chr1	TogoVar
KCNC2_chr12_75035078_75214839	75179704	GTATATCT others(34): Show GTATATCTTTTATAAAAACTATAAAAGATATAAAACTAGTTT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	233	0.0043	-41	c.687 others(60): Show c.687+27552_687+27592delAAACTAGTTTTATATCTTTTATAGTT TTTATAAAAGATATA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNC2_chr12_75035078_75214839	75206978	TGAATCCT others(34): Show TGAATCCTCATACCCGTTTCAGGACAGGGTCCAAAGACGTGC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	314	0.0032	-41	c.687 others(56): Show c.687+278_687+318delGCACGTCTTTGGACCCTGTCCTGAAACGGG TATGAGGATTC	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar
KCNMA1_chr10_76879882_77642808	77566016	CTTCATGT others(34): Show CTTCATGTTTTTCTCTCCTCTTATTTCTCTTCTATTCACCTA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01099.hp2 others(11): Show HG00597.hp2 HG01081.hp1 HG01099.hp2 HG01168.hp1 HG01258.hp1 HG02165.hp1 HG02630.hp1 HG02647.hp1 HG03704.hp2 HG04204.hp1 NA18747.hp1 NA19009.hp2 NA19010.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0005t0001 a0001c0005t0003	a0001c0001t0001g0011 a0001c0001t0002g0012 a0001c0001t0002g0042 others(11): Show a0001c0001t0001g0011 a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0003g0016 a0001c0001t0004g0097 a0001c0001t0004g0100 a0001c0001t0005g0072 a0001c0002t0001g0073 a0001c0002t0002g0056 a0001c0002t0002g0076 a0001c0002t0003g0018 a0001c0002t0006g0032 a0001c0005t0001g0033 a0001c0005t0003g0015	14	106	0.1321	-41	c.378 others(60): Show c.378+71208_378+71248delTAGGTGAATAGAAGAGAAATAAGAGG AGAGAAAAACATGAA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178759835	GATATATC others(34): Show GATATATCTATATATATATATATATCCAAGAGGATATATCTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03209.hp2 HG02109.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0226 a0001c0002t0001g0217 a0001c0002t0001g0226	2	222	0.0090	-41	c.-67 others(60): Show c.-67-47507_-67-47467delATATATCTATATATATATATATATCC AAGAGGATATATCTA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63415416	GCCGAGCA others(34): Show GCCGAGCACCCGGCGGGAGGGAGGGAGGGGAGGCCACGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp2 others(42): Show HG00140.hp2 HG00323.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02040.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02486.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 NA18945.hp2 NA19011.hp2 NA19065.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0001c0028 a0002c0001	a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 others(18): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0008 a0001c0002t0009 a0001c0002t0021 a0001c0002t0031 a0001c0002t0034 a0001c0002t0035 a0001c0002t0054 a0001c0002t0059 a0001c0002t0061 a0001c0002t0062 a0001c0002t0065 a0001c0002t0078 a0001c0003t0015 a0001c0005t0027 a0001c0005t0044 a0001c0016t0001 a0001c0028t0035 a0002c0001t0038 a0002c0001t0067	a0001c0002t0001g0004 a0001c0002t0001g0023 a0001c0002t0001g0024 others(40): Show a0001c0002t0001g0004 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0084 a0001c0002t0001g0110 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0158 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0240 a0001c0002t0004g0173 a0001c0002t0004g0174 a0001c0002t0008g0047 a0001c0002t0009g0120 a0001c0002t0021g0106 a0001c0002t0021g0107 a0001c0002t0021g0108 a0001c0002t0031g0180 a0001c0002t0031g0182 a0001c0002t0034g0001 a0001c0002t0035g0051 a0001c0002t0054g0186 a0001c0002t0059g0035 a0001c0002t0061g0169 a0001c0002t0062g0048 a0001c0002t0065g0238 a0001c0002t0078g0105 a0001c0003t0015g0271 a0001c0003t0015g0305 a0001c0005t0027g0157 a0001c0005t0044g0067 a0001c0016t0001g0179 a0001c0028t0035g0026 a0002c0001t0038g0009 a0002c0001t0067g0218	45	303	0.1485	-41	c.130 others(58): Show c.1302-331_1302-291delTCCCCGTGGCCTCCCCTCCCTCCCTCCC GCCGGGTGCTCGG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	12/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132249468	GGTGCTGA others(34): Show GGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGACACAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02976.hp2 HG02145.hp1 HG02622.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0026 a0001c0001t0103 a0001c0001t0018 a0001c0001t0026 a0001c0001t0103	a0001c0001t0018g0033 a0001c0001t0026g0098 a0001c0001t0103g0151 a0001c0001t0018g0033 a0001c0001t0026g0098 a0001c0001t0103g0151	3	176	0.0170	-41	c.387 others(60): Show c.387-63328_387-63288delTCTGTGTCTAGCTCAAGGTTTGTAAA CACACCAATCAGCAC	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNRG_chr13_50010444_50025922	50015089	AAAAAAAT others(34): Show AAAAAAATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	418	0.0024	-41	c.-40 others(50): Show c.-404_-364delAAAAAATATATATATATATATATATATATATATATA TATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		354		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015091	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG06807.hp2 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0030 a0001c0001t0001g0033	2	422	0.0047	-41	c.-40 others(50): Show c.-402_-362delAAAATATATATATATATATATATATATATATATATA TATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		352		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015093	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02683.hp1 HG00741.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	302	0.0066	-41	c.-40 others(50): Show c.-400_-360delAATATATATATATATATATATATATATATATATATA TATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		350		chr13	TogoVar
KCNRG_chr13_50010444_50025922	50015095	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG03710.hp2 HG04228.hp1 HG02735.hp2 HG03710.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015	3	440	0.0068	-41	c.-39 others(50): Show c.-398_-358delTATATATATATATATATATATATATATATATATATA TATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		348		chr13	TogoVar
KCTD17_chr22_37046742_37068390	37056517	GTTTGTCA others(34): Show GTTTGTCATGGGGAGGCCGAGCTGGCCTGTAAGGAGAGGCAT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0045	1	368	0.0027	-41	c.390 others(56): Show c.390+107_390+147delTTTGTCATGGGGAGGCCGAGCTGGCCTGTA AGGAGAGGCAT	KCTD17	ENSG00000100379.18	transcript	ENST00000403888.8	protein_coding	3/8			chr22	TogoVar
KDM2A_chr11_67114263_67263082	67247034	ATTTTATA others(34): Show ATTTTATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	216	0.0046	-41	c.196 others(58): Show c.1965+923_1965+963delATATATATATATATATATATATATATAT ATATATTTTTTTT	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA0930_chr22_45187244_45245894	45228973	CCACTCAC others(34): Show CCACTCACCCAAAAGATCCCTCTCCACCCCCACACCACCAAA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02258.hp2 HG02280.hp2 others(2): Show HG01943.hp2 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0001t0042 a0001c0001t0070 others(1): Show a0001c0001t0030 a0001c0001t0042 a0001c0001t0070 a0001c0002t0172	a0001c0001t0030g0310 a0001c0001t0030g0311 a0001c0001t0042g0034 others(2): Show a0001c0001t0030g0310 a0001c0001t0030g0311 a0001c0001t0042g0034 a0001c0001t0070g0009 a0001c0002t0172g0309	5	354	0.0141	-41	c.64+ others(58): Show c.64+11626_64+11666delTTTGGTGGTGTGGGGGTGGAGAGGGATC TTTTGGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229004	ACACCACC others(34): Show ACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	192	0.0052	-41	c.64+ others(58): Show c.64+11595_64+11635delGGGGGGTGGAGAGGGATCTTTCGGGTGA GTGTTTGGTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1549L_chr11_33371108_33679102	33614546	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0095 a0001c0008t0003g0096 a0001c0008t0003g0095 a0001c0008t0003g0096	2	207	0.0097	-41	c.528 others(60): Show c.5280-3985_5280-3945delATATATATATATATATATATATATAT ATATATATATATTTT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIF26A_chr14_104133587_104185894	104183051	CCCTGCCT others(34): Show CCCTGCCTGGACCCCCGTCCTCCCTGTCTGGACCCCGGTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG01257.hp2 others(5): Show HG00544.hp2 HG01069.hp1 HG01257.hp2 HG01258.hp2 HG01975.hp2 HG02572.hp2 HG02896.hp1 HG03225.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0001c0045 a0001c0092 a0011c0022	a0001c0001t0011 a0001c0001t0012 a0001c0003t0012 others(4): Show a0001c0001t0011 a0001c0001t0012 a0001c0003t0012 a0001c0006t0012 a0001c0045t0012 a0001c0092t0011 a0011c0022t0011	a0001c0001t0011g0359 a0001c0001t0012g0168 a0001c0003t0012g0066 others(5): Show a0001c0001t0011g0359 a0001c0001t0012g0168 a0001c0003t0012g0066 a0001c0006t0012g0056 a0001c0045t0012g0015 a0001c0092t0011g0222 a0011c0022t0011g0088 a0011c0022t0011g0089	8	372	0.0215	-41	c.32 others(52): Show c.3262_*3302delCCTGCCTGGACCCCCGTCCTCCCTGTCTGGACCC CGGTCCT	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding		2158		chr14	TogoVar

Search by Variant

Search

Search Results