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
KCNRG_chr13_50010444_50025922	50015089	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA19076.hp1 NA18999.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0011	2	419	0.0048	-29	c.-40 others(38): Show c.-404_-376delAAAAAATATATATATATATATATATATAT	KCNRG	ENSG00000198553.9	transcript	ENST00000312942.2	protein_coding		354		chr13	TogoVar
KCNT1_chr9_135697185_135800502	135777685	CCTCCTGC others(22): Show CCTCCTGCTCCCAGCTCCTCCCCACACCCA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18612.hp2 HG02602.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0102 a0001c0001t0016g0254 a0001c0001t0016g0102 a0001c0001t0016g0254	2	269	0.0074	-29	c.252 others(46): Show c.2522+200_2522+228delACCCACTCCTGCTCCCAGCTCCTCCCCA C	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNT1_chr9_135697185_135800502	135777710	ACCCACTC others(22): Show ACCCACTCCTGCTCCCAGCTCCTCCCCACC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02897.hp2 HG03195.hp1 others(3): Show HG01884.hp1 HG02897.hp2 HG03195.hp1 HG03225.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0002t0006 a0001c0003t0006 a0001c0004t0020 others(2): Show a0001c0002t0006 a0001c0003t0006 a0001c0004t0020 a0001c0009t0006 a0001c0009t0018	a0001c0002t0006g0054 a0001c0003t0006g0023 a0001c0003t0006g0117 others(3): Show a0001c0002t0006g0054 a0001c0003t0006g0023 a0001c0003t0006g0117 a0001c0004t0020g0215 a0001c0009t0006g0159 a0001c0009t0018g0162	6	269	0.0223	-29	c.252 others(46): Show c.2522+205_2522+233delCTCCTGCTCCCAGCTCCTCCCCACCCCC A	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD17_chr22_37046742_37068390	37054395	TTATCTGG others(22): Show TTATCTGGGGGCTAGGGGATCACACAGGGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02630.hp2 others(3): Show HG02145.hp1 HG02615.hp2 HG02630.hp2 HG02970.hp2 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0001t0001g0033 a0001c0002t0002g0034 a0001c0002t0002g0035	6	368	0.0163	-29	c.298 others(46): Show c.298+1203_298+1231delGGATCACACAGGGCTATCTGGGGGCTAG G	KCTD17	ENSG00000100379.18	transcript	ENST00000403888.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KCTD17_chr22_37046742_37068390	37054411	GGATCACA others(22): Show GGATCACACAGGGCTATCTGGGGGCTAGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	368	0.0027	-29	c.298 others(46): Show c.298+1221_298+1249delTGGGGGCTAGGAGATCACACAGGGCTAT C	KCTD17	ENSG00000100379.18	transcript	ENST00000403888.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
KDM2A_chr11_67114263_67263082	67168583	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02630.hp2 HG03098.hp2 others(3): Show HG01934.hp2 HG02630.hp2 HG03098.hp2 HG03453.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0216 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0216 a0001c0003t0002g0017 a0001c0003t0002g0136 a0001c0003t0002g0138	6	63	0.0952	-29	c.43- others(46): Show c.43-11495_43-11467delCACACACACACACACACACACACACACA C	KDM2A	ENSG00000173120.15	transcript	ENST00000529006.7	protein_coding	2/20			chr11	TogoVar
KDM6A_chrX_44868188_45117779	45042240	TGGAAGGA others(22): Show TGGAAGGAGACCGTGGAGGGAGAGGGGAGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02622.hp2 others(4): Show HG02258.hp1 HG02451.hp1 HG02622.hp2 HG03098.hp1 NA18906.hp2 NA19043.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0006 a0001c0001 a0001c0009 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0004c0006t0003	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0198 others(4): Show a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0003g0125 a0001c0009t0001g0128 a0004c0006t0003g0126 a0004c0006t0003g0127	7	189	0.0370	-29	c.654 others(46): Show c.654+4554_654+4582delAAGGAGACCGTGGAGGGAGAGGGGAGAG G	KDM6A	ENSG00000147050.18	transcript	ENST00000611820.5	protein_coding	8/29		INFO_REALIGN_3_PRIME	chrX	TogoVar
KDM7A_chr7_140079746_140181983	140151488	TAAAGGGA others(22): Show TAAAGGGATAGAAAATGAATGTGAGGGGGA	T T	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	342	0.0029	-29	c.195 others(48): Show c.195-12327_195-12299delTCCCCCTCACATTCATTTTCTATCCC TTT	KDM7A	ENSG00000006459.11	transcript	ENST00000397560.7	protein_coding	1/19			chr7	TogoVar
KHDRBS2_chr6_61674961_62291225	61945103	AAAAAAAA others(22): Show AAAAAAAAAAGTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	241	0.0041	-29	c.483 others(48): Show c.483+32934_483+32962delATATATATATATATATATACTTTTTT TTT	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KHDRBS3_chr8_135452456_135652610	135535225	AATAAACT others(22): Show AATAAACTATTATATATAGTTAAACTATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03130.hp2 HG04184.hp2 others(1): Show HG01993.hp2 HG03130.hp2 HG04184.hp2 NA18939.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0002 a0001c0001t0001 a0001c0001t0002 a0002c0005t0002	a0001c0001t0001g0121 a0001c0001t0002g0189 a0001c0001t0002g0322 others(1): Show a0001c0001t0001g0121 a0001c0001t0002g0189 a0001c0001t0002g0322 a0002c0005t0002g0188	4	62	0.0645	-29	c.208 others(46): Show c.208-7234_208-7206delAAACTATATATAAACTATTATATATAGT T	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KHSRP_chr19_6408102_6429811	6425016	TAGCTGCG others(22): Show TAGCTGCGAGCTGCCCGTGCTGGGCGGGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	1	384	0.0026	-29	c.-34 others(38): Show c.-344_-316delTGCCCGCCCAGCACGGGCAGCTCGCAGCT	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		206		chr19	TogoVar
KIAA0232_chr4_6777727_6889164	6873617	ATTAGTTA others(22): Show ATTAGTTAGTAAAGAATCCAGTTTCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19030.hp2 HG02258.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0032 a0001c0001t0006 a0001c0001t0032	a0001c0001t0006g0144 a0001c0001t0032g0143 a0001c0001t0006g0144 a0001c0001t0032g0143	2	360	0.0056	-29	c.391 others(48): Show c.3910+1940_3910+1968delTTAGTAAAGAATCCAGTTTCACCTCT TAG	KIAA0232	ENSG00000170871.12	transcript	ENST00000307659.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
KIAA0825_chr5_94145851_94623604	94152846	AAAAAAAA others(22): Show AAAAAAAAAATTATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0011 a0001c0005 a0001c0011	a0001c0005t0037 a0001c0011t0003 a0001c0005t0037 a0001c0011t0003	a0001c0005t0037g0054 a0001c0011t0003g0030 a0001c0005t0037g0054 a0001c0011t0003g0030	2	53	0.0377	-29	c.11 others(40): Show c.1132_*1160delATATATATATATATATATAATTTTTTTTT	KIAA0825	ENSG00000185261.16	transcript	ENST00000682413.1	protein_coding	21/21	1132		chr5	TogoVar
KIAA1217_chr10_24204138_24552843	24337621	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp1 others(21): Show HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG01074.hp2 HG02074.hp1 HG02080.hp2 HG02523.hp2 HG03017.hp1 HG03239.hp1 HG04228.hp2 NA18944.hp2 NA18955.hp2 NA18957.hp2 NA18968.hp1 NA19000.hp1 NA19010.hp1 NA19010.hp2 NA19068.hp1 NA19068.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0014 a0001c0026 a0002c0002 a0002c0021 a0002c0074 a0021c0069	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0005t0002 a0001c0006t0001 a0001c0006t0005 a0001c0009t0001 a0001c0013t0005 a0001c0014t0002 a0001c0026t0002 a0002c0002t0001 a0002c0021t0001 a0002c0074t0001 a0021c0069t0001	a0001c0001t0001g0036 a0001c0001t0001g0136 a0001c0001t0001g0168 others(21): Show a0001c0001t0001g0036 a0001c0001t0001g0136 a0001c0001t0001g0168 a0001c0001t0001g0179 a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0002g0215 a0001c0003t0001g0073 a0001c0003t0001g0161 a0001c0003t0002g0074 a0001c0004t0003g0192 a0001c0005t0002g0004 a0001c0006t0001g0056 a0001c0006t0001g0191 a0001c0006t0005g0206 a0001c0009t0001g0224 a0001c0013t0005g0008 a0001c0014t0002g0107 a0001c0026t0002g0218 a0002c0002t0001g0180 a0002c0002t0001g0223 a0002c0021t0001g0064 a0002c0074t0001g0204 a0021c0069t0001g0198	24	238	0.1008	-29	c.355 others(48): Show c.355-43244_355-43216delCTTTTCTTTTCTTTTCTTTTCTTTTC TTT	KIAA1217	ENSG00000120549.19	transcript	ENST00000376454.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1549L_chr11_33371108_33679102	33410981	CAAGGACC others(22): Show CAAGGACCAGTTTAGGGGAGTGGGCTTTGG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp1 HG02976.hp2 HG00735.hp1 HG01496.hp1 HG02976.hp2	a0001 a0011 a0001 a0011	a0001c0028 a0001c0077 a0011c0061 a0001c0028 a0001c0077 a0011c0061	a0001c0028t0022 a0001c0077t0014 a0011c0061t0039 a0001c0028t0022 a0001c0077t0014 a0011c0061t0039	a0001c0028t0022g0142 a0001c0077t0014g0006 a0011c0061t0039g0223 a0001c0028t0022g0142 a0001c0077t0014g0006 a0011c0061t0039g0223	3	224	0.0134	-29	c.238 others(48): Show c.238+34115_238+34143delGCTTTGGAAGGACCAGTTTAGGGGAG TGG	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33530423	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0152 a0001c0002t0008g0152	1	222	0.0045	-29	c.239 others(48): Show c.239-11377_239-11349delAAAAAAAAAAAAATATATATATATAT ATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33530425	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp2 HG01167.hp2 others(2): Show HG01071.hp1 HG01106.hp2 HG01167.hp2 NA18942.hp2 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0017 a0001c0002 a0001c0017	a0001c0002t0001 a0001c0002t0013 a0001c0002t0061 others(1): Show a0001c0002t0001 a0001c0002t0013 a0001c0002t0061 a0001c0017t0040	a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0013g0138 others(2): Show a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0013g0138 a0001c0002t0061g0222 a0001c0017t0040g0150	5	206	0.0243	-29	c.239 others(48): Show c.239-11375_239-11347delAAAAAAAAAAATATATATATATATAT ATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33530427	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG04228.hp1 HG01496.hp1 HG04228.hp1	a0001 a0019 a0001 a0019	a0001c0077 a0019c0065 a0001c0077 a0019c0065	a0001c0077t0014 a0019c0065t0015 a0001c0077t0014 a0019c0065t0015	a0001c0077t0014g0006 a0019c0065t0015g0131 a0001c0077t0014g0006 a0019c0065t0015g0131	2	196	0.0102	-29	c.239 others(48): Show c.239-11373_239-11345delAAAAAAAAATATATATATATATATAT ATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33530429	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0010 a0010	a0010c0097 a0010c0097	a0010c0097t0010 a0010c0097t0010	a0010c0097t0010g0173 a0010c0097t0010g0173	1	210	0.0048	-29	c.239 others(48): Show c.239-11371_239-11343delAAAAAAATATATATATATATATATAT ATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33530431	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0145 a0001c0010t0002g0145	1	216	0.0046	-29	c.239 others(48): Show c.239-11369_239-11341delAAAAATATATATATATATATATATAT ATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33530433	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0032 a0001c0057t0032	a0001c0057t0032g0003 a0001c0057t0032g0003	1	217	0.0046	-29	c.239 others(48): Show c.239-11367_239-11339delAAATATATATATATATATATATATAT ATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1549L_chr11_33371108_33679102	33530435	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	219	0.0046	-29	c.239 others(48): Show c.239-11365_239-11337delATATATATATATATATATATATATAT ATA	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIDINS220_chr2_8723858_8842613	8744378	AAAAAAAA others(22): Show AAAAAAAAAAAATATATATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	311	0.0032	-29	c.358 others(48): Show c.3585+2738_3585+2766delATATATTATATATATATATTTTTTTT TTT	KIDINS220	ENSG00000134313.17	transcript	ENST00000256707.8	protein_coding	26/29			chr2	TogoVar
KIDINS220_chr2_8723858_8842613	8744380	AAAAAAAA others(22): Show AAAAAAAAAATATATATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02572.hp2 HG03239.hp2 others(1): Show HG01256.hp1 HG02572.hp2 HG03239.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0245 a0002c0002t0001g0004 a0002c0002t0001g0007 others(1): Show a0001c0001t0001g0245 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0256	4	293	0.0137	-29	c.358 others(48): Show c.3585+2736_3585+2764delATATATATTATATATATATATTTTTT TTT	KIDINS220	ENSG00000134313.17	transcript	ENST00000256707.8	protein_coding	26/29			chr2	TogoVar
KIDINS220_chr2_8723858_8842613	8744386	AAAATATA others(22): Show AAAATATATATATATAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	277	0.0036	-29	c.358 others(48): Show c.3585+2730_3585+2758delATATATATATATATTATATATATATA TTT	KIDINS220	ENSG00000134313.17	transcript	ENST00000256707.8	protein_coding	26/29			chr2	TogoVar
KIF13A_chr6_17758693_17992635	17779243	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(78): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp2 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18968.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19057.hp2 NA19060.hp1 NA19068.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20905.hp2	a0001 a0005 a0007 others(5): Show a0001 a0005 a0007 a0010 a0011 a0012 a0013 a0016	a0001c0001 a0001c0006 a0001c0007 others(14): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0001c0013 a0001c0014 a0001c0020 a0001c0026 a0001c0041 a0001c0047 a0005c0019 a0007c0018 a0010c0025 a0011c0029 a0012c0035 a0013c0032 a0016c0034	a0001c0001t0001 a0001c0001t0007 a0001c0006t0001 others(16): Show a0001c0001t0001 a0001c0001t0007 a0001c0006t0001 a0001c0007t0001 a0001c0009t0002 a0001c0013t0001 a0001c0014t0001 a0001c0020t0001 a0001c0026t0001 a0001c0041t0001 a0001c0047t0001 a0005c0019t0001 a0005c0019t0006 a0007c0018t0001 a0010c0025t0001 a0011c0029t0001 a0012c0035t0001 a0013c0032t0001 a0016c0034t0001	a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0067 others(78): Show a0001c0001t0001g0036 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0256 a0001c0001t0001g0265 a0001c0001t0007g0073 a0001c0006t0001g0032 a0001c0006t0001g0033 a0001c0006t0001g0034 a0001c0006t0001g0040 a0001c0006t0001g0041 a0001c0006t0001g0042 a0001c0006t0001g0072 a0001c0006t0001g0120 a0001c0006t0001g0121 a0001c0006t0001g0122 a0001c0006t0001g0262 a0001c0007t0001g0025 a0001c0007t0001g0026 a0001c0009t0002g0079 a0001c0009t0002g0080 a0001c0009t0002g0088 a0001c0009t0002g0113 a0001c0009t0002g0114 a0001c0013t0001g0051 a0001c0013t0001g0103 a0001c0014t0001g0019 a0001c0014t0001g0046 a0001c0014t0001g0048 a0001c0020t0001g0022 a0001c0020t0001g0023 a0001c0026t0001g0049 a0001c0041t0001g0191 a0001c0047t0001g0258 a0005c0019t0001g0123 a0005c0019t0006g0119 a0007c0018t0001g0037 a0007c0018t0001g0038 a0010c0025t0001g0076 a0011c0029t0001g0141 a0012c0035t0001g0059 a0013c0032t0001g0227 a0016c0034t0001g0031	81	260	0.3115	-29	c.394 others(46): Show c.3940-173_3940-145delAAAAAAAAAAAAAAATATATATATATAT A	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	32/38			chr6	TogoVar
KIF13A_chr6_17758693_17992635	17779245	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00741.hp2 others(10): Show HG00140.hp2 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01175.hp1 HG01346.hp1 HG01891.hp1 HG02257.hp2 HG02647.hp2 HG03017.hp1 HG03486.hp2 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0033	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0033t0001	a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 others(10): Show a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0005t0001g0205 a0001c0006t0001g0008 a0001c0033t0001g0252	13	280	0.0464	-29	c.394 others(46): Show c.3940-175_3940-147delAAAAAAAAAAAAAAAAATATATATATAT A	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	32/38			chr6	TogoVar
KIF13A_chr6_17758693_17992635	17779247	ATATATAT others(22): Show ATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02615.hp1 others(8): Show HG00639.hp1 HG01109.hp1 HG02615.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0010 a0001c0001 a0001c0008 a0002c0010	a0001c0001t0001 a0001c0008t0001 a0002c0010t0001 a0001c0001t0001 a0001c0008t0001 a0002c0010t0001	a0001c0001t0001g0101 a0001c0008t0001g0021 a0001c0008t0001g0053 others(8): Show a0001c0001t0001g0101 a0001c0008t0001g0021 a0001c0008t0001g0053 a0001c0008t0001g0160 a0001c0008t0001g0161 a0001c0008t0001g0162 a0002c0010t0001g0002 a0002c0010t0001g0003 a0002c0010t0001g0004 a0002c0010t0001g0005 a0002c0010t0001g0006	11	271	0.0406	-29	c.394 others(46): Show c.3940-177_3940-149delAAAAAAAAAAAAAAAAAAATATATATAT A	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	32/38			chr6	TogoVar
KIF13A_chr6_17758693_17992635	17779249	ATATATAT others(22): Show ATATATATATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02922.hp1 others(5): Show HG02257.hp1 HG02559.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03540.hp2 NA18906.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0038 a0006c0017 a0001c0004 a0001c0038 a0006c0017	a0001c0004t0003 a0001c0038t0003 a0006c0017t0003 a0001c0004t0003 a0001c0038t0003 a0006c0017t0003	a0001c0004t0003g0052 a0001c0004t0003g0147 a0001c0004t0003g0148 others(5): Show a0001c0004t0003g0052 a0001c0004t0003g0147 a0001c0004t0003g0148 a0001c0004t0003g0219 a0001c0004t0003g0220 a0001c0038t0003g0206 a0006c0017t0003g0142 a0006c0017t0003g0146	8	278	0.0288	-29	c.394 others(46): Show c.3940-179_3940-151delAAAAAAAAAAAAAAAAAAAAATATATAT A	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	32/38			chr6	TogoVar
KIF26B_chr1_245149985_245714432	245203704	CTCCCTGG others(22): Show CTCCCTGGAGGTGCCGCATGAAAGCGCTTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0019 a0001c0004t0007g0019	1	160	0.0063	-29	c.465 others(48): Show c.465+47030_465+47058delGGTGCCGCATGAAAGCGCTTTTCCCT GGA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245374079	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0055 a0001c0022t0055	a0001c0022t0055g0139 a0001c0022t0055g0139	1	159	0.0063	-29	c.999 others(46): Show c.999+6714_999+6742delAAAAAAAAAAAAAAATATATATATATAT A	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245374083	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0023 a0007c0018t0023	a0007c0018t0023g0157 a0007c0018t0023g0157	1	152	0.0066	-29	c.999 others(46): Show c.999+6718_999+6746delAAAAAAAAAAATATATATATATATATAT A	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245374085	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02145.hp2 others(2): Show HG01884.hp2 HG02109.hp1 HG02145.hp2 HG03041.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0038 a0003c0003	a0001c0001t0012 a0001c0002t0001 a0001c0009t0012 others(2): Show a0001c0001t0012 a0001c0002t0001 a0001c0009t0012 a0001c0038t0006 a0003c0003t0004	a0001c0001t0012g0003 a0001c0002t0001g0125 a0001c0009t0012g0108 others(2): Show a0001c0001t0012g0003 a0001c0002t0001g0125 a0001c0009t0012g0108 a0001c0038t0006g0097 a0003c0003t0004g0142	5	151	0.0331	-29	c.999 others(46): Show c.999+6720_999+6748delAAAAAAAAATATATATATATATATATAT A	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245374087	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0051 a0001c0009t0051	a0001c0009t0051g0090 a0001c0009t0051g0090	1	156	0.0064	-29	c.999 others(46): Show c.999+6722_999+6750delAAAAAAATATATATATATATATATATAT A	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245442733	TGTCATCT others(22): Show TGTCATCTCCCTCACTGTTCACCTACAGCG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01123.hp1 others(8): Show HG00323.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG02559.hp2 HG02630.hp2 HG02698.hp2 HG03453.hp2 NA18906.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0022	a0001c0002 a0001c0005 a0001c0016 others(5): Show a0001c0002 a0001c0005 a0001c0016 a0001c0035 a0001c0051 a0002c0029 a0003c0003 a0022c0034	a0001c0002t0003 a0001c0002t0081 a0001c0005t0010 others(7): Show a0001c0002t0003 a0001c0002t0081 a0001c0005t0010 a0001c0005t0014 a0001c0016t0044 a0001c0035t0084 a0001c0051t0047 a0002c0029t0015 a0003c0003t0083 a0022c0034t0007	a0001c0002t0003g0029 a0001c0002t0081g0059 a0001c0005t0010g0028 others(8): Show a0001c0002t0003g0029 a0001c0002t0081g0059 a0001c0005t0010g0028 a0001c0005t0010g0033 a0001c0005t0014g0072 a0001c0016t0044g0129 a0001c0035t0084g0089 a0001c0051t0047g0156 a0002c0029t0015g0071 a0003c0003t0083g0085 a0022c0034t0007g0159	11	144	0.0764	-29	c.116 others(50): Show c.1166+23129_1166+23157delCAGCGGTCATCTCCCTCACTGTTC ACCTA	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245443022	CGGTCATC others(22): Show CGGTCATCTCCCTCACTGTTCACCTAGAGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01123.hp1 others(19): Show HG00323.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01261.hp2 HG01978.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02698.hp2 HG02735.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03704.hp2 NA18747.hp1 NA18906.hp2 NA19011.hp1 NA19085.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0007 a0012 a0016 a0022	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014 a0001c0016 a0001c0035 a0001c0042 a0001c0051 a0001c0053 a0002c0006 a0002c0027 a0002c0029 a0003c0003 a0007c0018 a0012c0041 a0016c0021 a0022c0034	a0001c0001t0008 a0001c0002t0003 a0001c0002t0081 others(18): Show a0001c0001t0008 a0001c0002t0003 a0001c0002t0081 a0001c0005t0010 a0001c0005t0014 a0001c0014t0001 a0001c0016t0044 a0001c0035t0084 a0001c0042t0030 a0001c0051t0047 a0001c0053t0052 a0002c0006t0002 a0002c0006t0068 a0002c0027t0033 a0002c0029t0015 a0003c0003t0006 a0003c0003t0083 a0007c0018t0023 a0012c0041t0018 a0016c0021t0017 a0022c0034t0007	a0001c0001t0008g0054 a0001c0002t0003g0029 a0001c0002t0081g0059 others(19): Show a0001c0001t0008g0054 a0001c0002t0003g0029 a0001c0002t0081g0059 a0001c0005t0010g0028 a0001c0005t0010g0033 a0001c0005t0014g0072 a0001c0014t0001g0100 a0001c0016t0044g0129 a0001c0035t0084g0089 a0001c0042t0030g0081 a0001c0051t0047g0156 a0001c0053t0052g0127 a0002c0006t0002g0041 a0002c0006t0068g0007 a0002c0027t0033g0123 a0002c0029t0015g0071 a0003c0003t0006g0117 a0003c0003t0083g0085 a0007c0018t0023g0157 a0012c0041t0018g0150 a0016c0021t0017g0114 a0022c0034t0007g0159	22	160	0.1375	-29	c.116 others(50): Show c.1166+23306_1166+23334delTGGTCATCTCCCTCACTGTTCACC TAGAG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245443916	TGCGGTCA others(22): Show TGCGGTCATCTCCCTCACTGTTCACCTAGA	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0049 a0001c0013t0049	a0001c0013t0049g0154 a0001c0013t0049g0154	1	158	0.0063	-29	c.116 others(50): Show c.1166+24171_1166+24199delTGCGGTCATCTCCCTCACTGTTCA CCTAG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14			chr1	TogoVar
KIF26B_chr1_245149985_245714432	245444104	CACTGTTC others(22): Show CACTGTTCACCTAGAGCGGTCATCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG01123.hp2 others(26): Show HG00408.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG02056.hp1 HG02074.hp1 HG02109.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG03017.hp1 HG03195.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp2 NA18971.hp2 NA18999.hp2 NA19004.hp1 NA19043.hp1 NA19085.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0018	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0012 a0001c0040 a0001c0047 a0002c0006 a0002c0025 a0002c0026 a0002c0028 a0002c0060 a0003c0003 a0010c0023 a0018c0062	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0025 a0001c0001t0036 a0001c0001t0038 a0001c0001t0041 a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 a0001c0002t0053 a0001c0002t0059 a0001c0005t0007 a0001c0010t0026 a0001c0012t0082 a0001c0040t0002 a0001c0047t0009 a0002c0006t0021 a0002c0025t0056 a0002c0026t0003 a0002c0028t0003 a0002c0060t0007 a0003c0003t0004 a0010c0023t0005 a0018c0062t0086	a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0006g0104 others(26): Show a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0006g0104 a0001c0001t0009g0149 a0001c0001t0025g0073 a0001c0001t0025g0075 a0001c0001t0036g0140 a0001c0001t0038g0107 a0001c0001t0041g0022 a0001c0002t0001g0110 a0001c0002t0003g0012 a0001c0002t0003g0015 a0001c0002t0003g0027 a0001c0002t0019g0061 a0001c0002t0053g0122 a0001c0002t0059g0158 a0001c0005t0007g0024 a0001c0010t0026g0060 a0001c0012t0082g0131 a0001c0040t0002g0026 a0001c0047t0009g0128 a0002c0006t0021g0066 a0002c0025t0056g0057 a0002c0026t0003g0058 a0002c0028t0003g0011 a0002c0060t0007g0037 a0003c0003t0004g0145 a0010c0023t0005g0118 a0018c0062t0086g0144	29	160	0.1813	-29	c.116 others(50): Show c.1166+24388_1166+24416delTACTGTTCACCTAGAGCGGTCATC TCCCT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF3A_chr5_132687631_132742546	132724807	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG02723.hp2 others(2): Show HG02258.hp2 HG02559.hp1 HG02723.hp2 HG02886.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0017 a0002c0002t0011g0161 a0002c0002t0011g0162 a0002c0002t0011g0017 a0002c0002t0011g0161 a0002c0002t0011g0162	5	285	0.0175	-29	c.510 others(46): Show c.510+1292_510+1320delATATATATATATATATATATATATATAT A	KIF3A	ENSG00000131437.16	transcript	ENST00000403231.6	protein_coding	4/18			chr5	TogoVar
KIF3C_chr2_25921598_25987497	25948605	AGAAAGAG others(22): Show AGAAAGAGAAAGAGAAAGAGAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0159 a0001c0007t0011g0159	1	238	0.0042	-29	c.200 others(48): Show c.2006+3155_2006+3183delCTCTCTTTCTCTCTTTCTCTTTCTCT TTC	KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	5/7			chr2	TogoVar
KIR3DL3_chr19_54719442_54741632	54720831	CCCAGGAA others(22): Show CCCAGGAACAGAAAACCAAATACCACATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	455	0.0022	-29	c.-36 others(40): Show c.-3665_-3637delCCAGGAACAGAAAACCAAATACCACATGT	KIR3DL3	ENSG00000242019.2	transcript	ENST00000291860.2	protein_coding		3610		chr19	TogoVar
KLHL15_chrX_23978720_24032186	23979571	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18978.hp2 HG02155.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0228 a0001c0001t0002g0229	2	278	0.0072	-29	c.83 others(40): Show c.8321_*8349delATATATATATATTTTTTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4148		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979575	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18964.hp2 NA19055.hp1 others(2): Show NA18962.hp1 NA18964.hp2 NA19055.hp1 NA19058.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0184 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0184 a0001c0001t0002g0232	5	282	0.0177	-29	c.83 others(40): Show c.8317_*8345delATATATATATATATATTTTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4144		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979577	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA19043.hp1 NA18995.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0237 a0001c0001t0004g0076 a0001c0001t0002g0237 a0001c0001t0004g0076	2	284	0.0070	-29	c.83 others(40): Show c.8315_*8343delATATATATATATATATATTTTTTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4142		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23979581	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA19030.hp1 HG02630.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0143 a0001c0001t0004g0140 a0001c0001t0004g0143	2	275	0.0073	-29	c.83 others(40): Show c.8311_*8339delATATATATATATATATATATATTTTTTTT	KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding		4138		chrX	TogoVar
KLHL23_chr2_169728832_169756878	169750031	ATGTGTAT others(22): Show ATGTGTATATATAGTATGTATGTATACATG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00738.hp1 others(22): Show HG00099.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01346.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp2 HG02523.hp1 HG02886.hp1 HG03669.hp2 HG03831.hp1 NA18979.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0018 a0001c0002t0034 others(4): Show a0001c0002t0005 a0001c0002t0018 a0001c0002t0034 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056	a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0005g0168 others(22): Show a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0005g0168 a0001c0002t0005g0170 a0001c0002t0005g0171 a0001c0002t0005g0172 a0001c0002t0005g0173 a0001c0002t0005g0175 a0001c0002t0005g0177 a0001c0002t0005g0178 a0001c0002t0005g0179 a0001c0002t0005g0180 a0001c0002t0005g0186 a0001c0002t0005g0187 a0001c0002t0005g0198 a0001c0002t0018g0161 a0001c0002t0018g0169 a0001c0002t0018g0184 a0001c0002t0018g0185 a0001c0002t0034g0176 a0001c0002t0034g0181 a0001c0002t0053g0024 a0001c0002t0054g0213 a0001c0002t0055g0025 a0001c0002t0056g0162	25	398	0.0628	-29	c.30 others(38): Show c.301_*329delGTGTATATATAGTATGTATGTATACATGT	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	301	INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL29_chr2_23380179_23713606	23659171	ACCTAGGA others(22): Show ACCTAGGATGTGCGGGAGCTGAATGGTACC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0069 a0001c0016t0002g0069	1	158	0.0063	-29	c.940 others(48): Show c.940+16324_940+16352delTAGGATGTGCGGGAGCTGAATGGTAC CCC	KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL38_chr8_123639442_123658801	123650499	ATTGCTGG others(22): Show ATTGCTGGGTCTCCAGGCCCTTCACAATGG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0100 a0005c0007t0001g0100	1	444	0.0023	-29	c.135 others(48): Show c.1350+1049_1350+1077delCCATTGTGAAGGGCCTGGAGACCCAG CAA	KLHL38	ENSG00000175946.9	transcript	ENST00000684634.1	protein_coding	2/3			chr8	TogoVar
KLHL6_chr3_183482551_183560706	183534103	TTAAAAGT others(22): Show TTAAAAGTACTTTACTTTTAAAGTACTTTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp2 HG02055.hp1 HG03471.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0091 a0002c0007t0013 a0002c0007t0091	a0002c0007t0013g0077 a0002c0007t0091g0068 a0002c0007t0013g0077 a0002c0007t0091g0068	2	296	0.0068	-29	c.294 others(46): Show c.294-6122_294-6094delCAAAGTACTTTAAAAGTAAAGTACTTTT A	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KLK3_chr19_50849915_50865764	50865302	TTTTCTTT others(22): Show TTTTCTTTCCCTCTTTCTTTCTTTCTTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18967.hp2 NA20905.hp2 NA18949.hp2 NA18967.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0001c0007 a0002c0003	a0001c0007t0001 a0002c0003t0004 a0001c0007t0001 a0002c0003t0004	a0001c0007t0001g0023 a0002c0003t0004g0007 a0001c0007t0001g0023 a0002c0003t0004g0007	3	412	0.0073	-29	c.51 others(40): Show c.5176_*5204delTTTCTTTCCCTCTTTCTTTCTTTCTTTTC	KLK3	ENSG00000142515.16	transcript	ENST00000326003.7	protein_coding		4539		chr19	TogoVar

Search by Variant

Search

Search Results