Joint Open Genome and Omics Platform (JoGo)

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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
KCNQ2_chr20_63395208_63477655	63442876	T T	TATCACCA others(35): Show TATCACCACCACCATCACCACCATCACCACCACCACCATCACC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0021 a0002c0001t0002g0021	1	301	0.0033	42	c.691 others(57): Show c.691-346_691-345insGGTGATGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(35): Show CATCACCACCACCACCATCACCATCACCACCACCATCACCATT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0019 a0002c0001t0002g0019	1	233	0.0043	42	c.691 others(57): Show c.691-367_691-366insAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ3_chr8_132115861_132486095	132303565	G G	GATATATA others(35): Show GATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01361.hp2 HG01891.hp2 others(10): Show HG01175.hp2 HG01361.hp2 HG01891.hp2 HG01934.hp1 HG02523.hp1 HG02738.hp2 HG03017.hp1 HG03041.hp1 HG04228.hp1 NA18945.hp2 NA18999.hp2 NA19081.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(10): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0020 a0001c0001t0039 a0001c0001t0077 a0001c0001t0092 a0001c0001t0096 a0001c0001t0102 a0001c0001t0106 a0002c0002t0005 a0002c0002t0015	a0001c0001t0002g0115 a0001c0001t0007g0166 a0001c0001t0008g0020 others(10): Show a0001c0001t0002g0115 a0001c0001t0007g0166 a0001c0001t0008g0020 a0001c0001t0012g0079 a0001c0001t0020g0051 a0001c0001t0039g0030 a0001c0001t0077g0101 a0001c0001t0092g0136 a0001c0001t0096g0159 a0001c0001t0102g0147 a0001c0001t0106g0169 a0002c0002t0005g0118 a0002c0002t0015g0107	13	46	0.2826	42	c.387 others(63): Show c.387-117385_387-117384insATATATATATATATATATATATAT ATATATATATATATATAT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ3_chr8_132115861_132486095	132403016	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	2	0.5000	42	c.386 others(61): Show c.386+77130_386+77131insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	1/14			chr8	TogoVar
KCNQ5_chr6_72617064_73203853	72852640	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02083.hp1 HG01071.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0001 a0001c0001t0035 a0001c0002t0001	a0001c0001t0035g0033 a0001c0002t0001g0040 a0001c0001t0035g0033 a0001c0002t0001g0040	2	22	0.0909	42	c.399 others(63): Show c.399-151247_399-151246insTATATATATATATATATATATATA TATATATATATATATATA	KCNQ5	ENSG00000185760.18	transcript	ENST00000370398.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNT1_chr9_135697185_135800502	135731991	T T	TATATATA others(35): Show TATATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	50	0.0200	42	c.254 others(61): Show c.254+17272_254+17273insTATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGA	KCNT1	ENSG00000107147.14	transcript	ENST00000371757.7	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNV2_chr9_2712510_2735037	2722387	A A	AAGTTATT others(35): Show AAGTTATTTATAAATAGAAGTTATTTATAAATAAGTTATTTAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	393	0.0025	42	c.135 others(61): Show c.1356+3293_1356+3294insGTTATTTATAAATAGAAGTTATTTAT AAATAAGTTATTTATA	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCTD16_chr5_144165873_144490686	144452146	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0014 a0001c0001t0062g0014	1	131	0.0076	42	c.833 others(61): Show c.833-21495_833-21494insATATATATATATATATATATATATAT ATATATATATATATAT	KCTD16	ENSG00000183775.11	transcript	ENST00000512467.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCTD17_chr22_37046742_37068390	37062790	G G	GCCTGGCC others(35): Show GCCTGGCCCAATTGTCTGCGCCGCCCCCCCCCCCCTCGCGATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0045	1	368	0.0027	42	c.19 others(51): Show c.196_*197insCCTGGCCCAATTGTCTGCGCCGCCCCCCCCCCCCTC GCGATA	KCTD17	ENSG00000100379.18	transcript	ENST00000403888.8	protein_coding	9/9	197		chr22	TogoVar
KDM4C_chr9_6752973_7180648	6759039	G G	GTGGGCAA others(35): Show GTGGGCAAGACACCTGGGAGGGGGTTTGGCAGGCTCTGATGGA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0248 a0003c0004t0001g0248	1	264	0.0038	42	c.-18 others(57): Show c.-18+843_-18+844insGACACCTGGGAGGGGGTTTGGCAGGCTCTG ATGGATGGGCAA	KDM4C	ENSG00000107077.20	transcript	ENST00000381309.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
KHDRBS2_chr6_61674961_62291225	61954876	G G	GTGTATAT others(35): Show GTGTATATATATGTATATATACACATACATATGTGTGTATACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG01074.hp1 others(16): Show HG00408.hp2 HG00438.hp1 HG01074.hp1 HG02056.hp2 HG02129.hp1 HG02723.hp2 HG02922.hp1 HG03017.hp2 HG03831.hp2 NA18612.hp1 NA18945.hp2 NA18989.hp1 NA19003.hp1 NA19009.hp2 NA19070.hp1 NA19084.hp2 NA19086.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0011 others(2): Show a0001c0001 a0001c0004 a0001c0011 a0002c0006 a0005c0010	a0001c0001t0002 a0001c0004t0002 a0001c0004t0004 others(4): Show a0001c0001t0002 a0001c0004t0002 a0001c0004t0004 a0001c0004t0018 a0001c0011t0004 a0002c0006t0004 a0005c0010t0005	a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0093 others(16): Show a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0117 a0001c0004t0002g0146 a0001c0004t0002g0151 a0001c0004t0002g0152 a0001c0004t0002g0160 a0001c0004t0002g0161 a0001c0004t0002g0163 a0001c0004t0004g0235 a0001c0004t0004g0242 a0001c0004t0018g0241 a0001c0011t0004g0240 a0002c0006t0004g0186 a0002c0006t0004g0187 a0005c0010t0005g0020	19	46	0.4130	42	c.483 others(61): Show c.483+23189_483+23190insTGTATACACACATATGTATGTGTATA TATACATATATATACA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KIAA0586_chr14_58422719_58556297	58484902	A A	ATTTATAT others(35): Show ATTTATATATATATTTATATATATATATTTATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	204	0.0049	42	c.314 others(61): Show c.3145-2104_3145-2103insTTATATATATATTTATATATATATAT TTATATATATATTTTT	KIAA0586	ENSG00000100578.18	transcript	ENST00000652326.2	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIAA0753_chr17_6573147_6645711	6609493	A A	ATTGCTCC others(35): Show ATTGCTCCCTGCAGCTAAGACAGTGTTGGTGAGATCTATATAG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	368	0.0027	42	c.171 others(59): Show c.1712+459_1712+500dupCTATATAGATCTCACCAACACTGTCTTA GCTGCAGGGAGCAA	KIAA0753	ENSG00000198920.11	transcript	ENST00000361413.8	protein_coding	9/18			chr17	TogoVar
KIAA0930_chr22_45187244_45245894	45228741	C C	CCAACCAC others(35): Show CCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0139 a0001c0001t0094g0139	1	392	0.0026	42	c.64+ others(59): Show c.64+11898_64+11899insCGGGGGTGGAGAGGGATCTCTCAGGTGA GTGTTTGGTGGTTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228745	C C	CCACCAAA others(35): Show CCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG02280.hp1 others(4): Show HG01978.hp1 HG01978.hp2 HG02280.hp1 HG02630.hp2 HG02970.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0023 others(2): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0177	a0001c0001t0001g0239 a0001c0001t0021g0377 a0001c0001t0021g0381 others(3): Show a0001c0001t0001g0239 a0001c0001t0021g0377 a0001c0001t0021g0381 a0001c0001t0023g0004 a0001c0001t0027g0150 a0001c0001t0177g0376	7	393	0.0178	42	c.64+ others(59): Show c.64+11894_64+11895insATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45228861	A A	AACCACCA others(35): Show AACCACCAAACACTCACCCGAGAGATCCCTCTCCACCCCCGCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0099 a0001c0001t0007g0099	1	363	0.0028	42	c.64+ others(59): Show c.64+11778_64+11779insGGCGGGGGTGGAGAGGGATCTCTCGGGT GAGTGTTTGGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1328_chr18_36824127_37230334	36883957	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	198	0.0051	42	c.333 others(59): Show c.333-1587_333-1586insTATATATATATATATATATATATATATA CATATATATATATA	KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA1549L_chr11_33371108_33679102	33435816	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0074 a0001c0074	a0001c0074t0036 a0001c0074t0036	a0001c0074t0036g0164 a0001c0074t0036g0164	1	60	0.0167	42	c.238 others(61): Show c.238+58930_238+58931insGTGTGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATGT	KIAA1549L	ENSG00000110427.17	transcript	ENST00000658780.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
KIAA1671_chr22_24947716_25202448	25093824	T T	TTCTCTCT others(35): Show TTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0020 a0020	a0020c0050 a0020c0050	a0020c0050t0030 a0020c0050t0030	a0020c0050t0030g0033 a0020c0050t0030g0033	1	113	0.0088	42	c.453 others(63): Show c.4530+44469_4530+44470insCTCTCTCTCTCTGTCTCTCTCTCT CTCTGTCTCTCTCTCTCT	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
KIF13A_chr6_17758693_17992635	17821552	G G	GGTGTGTG others(35): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04115.hp2 HG01433.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0174 a0001c0003t0001g0116 a0001c0002t0002g0174 a0001c0003t0001g0116	2	67	0.0299	42	c.178 others(61): Show c.1786+4215_1786+4216insACACACACACACACACACACACACAC ACACACACACACACAC	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	16/38			chr6	TogoVar
KIF13A_chr6_17758693_17992635	17859638	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0282 a0001c0007t0001g0282	1	165	0.0061	42	c.221 others(59): Show c.221-3517_221-3516insAAAAAAAAAAAAAAAAAATATATATATA TATATATATATATA	KIF13A	ENSG00000137177.20	transcript	ENST00000259711.11	protein_coding	4/38			chr6	TogoVar
KIF13B_chr8_29062278_29268070	29165904	T T	TTCGATTG others(35): Show TTCGATTGTAGATCGAAGTACCTCGATTGTAGATCGAAGTACC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19043.hp2 HG02486.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0089 a0001c0002t0002g0090	2	11	0.1818	42	c.115 others(59): Show c.1159-133_1159-132insGGTACTTCGATCTACAATCGAGGTACTT CGATCTACAATCGA	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	11/39			chr8	TogoVar
KIF13B_chr8_29062278_29268070	29165918	G G	GAAGTACC others(35): Show GAAGTACCTCGATTGTAGATCGAAGTACCTCGATTGTAGATCA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp1 HG00741.hp2 HG02280.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0023 a0001c0001 a0011c0023	a0001c0001t0018 a0011c0023t0007 a0001c0001t0018 a0011c0023t0007	a0001c0001t0018g0269 a0011c0023t0007g0138 a0001c0001t0018g0269 a0011c0023t0007g0138	2	284	0.0070	42	c.115 others(59): Show c.1159-147_1159-146insTGATCTACAATCGAGGTACTTCGATCTA CAATCGAGGTACTT	KIF13B	ENSG00000197892.13	transcript	ENST00000524189.6	protein_coding	11/39			chr8	TogoVar
KIF14_chr1_200546500_200625751	200548793	C C	CACACACA others(35): Show CACACACACACACACACACACACACATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0026 a0001c0001t0031g0026	1	323	0.0031	42	c.45 others(53): Show c.4594_*4595insATATATATATATATATATGTGTGTGTGTGTGTGT GTGTGTGT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding		2706		chr1	TogoVar
KIF14_chr1_200546500_200625751	200548793	C C	CACACACA others(35): Show CACACACACACACACACATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02735.hp1 HG00099.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0024 a0001c0001t0007g0028 a0001c0001t0007g0024 a0001c0001t0007g0028	2	324	0.0062	42	c.45 others(53): Show c.4594_*4595insATATATATATATATATATATATATATGTGTGTGT GTGTGTGT	KIF14	ENSG00000118193.12	transcript	ENST00000367350.5	protein_coding		2706		chr1	TogoVar
KIF16B_chr20_16267104_16578448	16410018	C C	CATATATA others(35): Show CATATATATATATGTAGGTACATATATATATATGTAGGTACAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19083.hp1 NA19066.hp1 NA19083.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0014 a0005c0009t0002 a0005c0009t0014	a0005c0009t0002g0056 a0005c0009t0014g0001 a0005c0009t0002g0056 a0005c0009t0014g0001	2	156	0.0128	42	c.161 others(61): Show c.1613-3563_1613-3562insATGTACCTACATATATATATATGTAC CTACATATATATATAT	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	15/25			chr20	TogoVar
KIF17_chr1_20659014_20723007	20712868	G G	GATATTAT others(35): Show GATATTATCTATATTATATATAGATAATATCTATAATATAGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0013 a0013	a0013c0044 a0013c0044	a0013c0044t0001 a0013c0044t0001	a0013c0044t0001g0272 a0013c0044t0001g0272	1	194	0.0052	42	c.480 others(57): Show c.480+585_480+586insATCTATATTATAGATATTATCTATATATAA TATAGATAATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTATATATATATATATATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	147	0.0068	42	c.-43 others(53): Show c.-4315_-4314insCATATATACATATATATATATATATAGAGAGAGA GAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0097	1	147	0.0068	42	c.-43 others(53): Show c.-4315_-4314insTATATATATATATATATATAGAGAGAGAGAGAGA GAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF18B_chr17_44919711_44952773	44951927	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	147	0.0068	42	c.-43 others(53): Show c.-4315_-4314insTATATATATATATATATAGAGAGAGAGAGAGAGA GAGAGAGA	KIF18B	ENSG00000186185.14	transcript	ENST00000593135.6	protein_coding		4155		chr17	TogoVar
KIF1A_chr2_240708767_240825219	240780798	C C	CCACACAC others(35): Show CCACACACACACACACACACACACACACACACACACAGCTCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0291 a0001c0009t0004g0291	1	235	0.0043	42	c.882 others(59): Show c.882+1791_882+1792insTGGAGCTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780810	A A	ACAGCTCC others(35): Show ACAGCTCCACACACACACACACAGCTCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02165.hp1 NA18964.hp2 others(2): Show HG00673.hp2 HG02165.hp1 NA18964.hp2 NA18980.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0007 a0002c0002 a0001c0004 a0001c0007 a0002c0002	a0001c0004t0005 a0001c0007t0008 a0002c0002t0003 a0001c0004t0005 a0001c0007t0008 a0002c0002t0003	a0001c0004t0005g0067 a0001c0004t0005g0074 a0001c0007t0008g0073 others(2): Show a0001c0004t0005g0067 a0001c0004t0005g0074 a0001c0007t0008g0073 a0001c0007t0008g0075 a0002c0002t0003g0117	5	326	0.0153	42	c.882 others(59): Show c.882+1779_882+1780insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780886	A A	ACACACAC others(35): Show ACACACACACACACACACACAGCTCCACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0013 a0001c0004t0005g0013	1	326	0.0031	42	c.882 others(59): Show c.882+1703_882+1704insGAGCTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240780984	A A	ACAGCTCC others(35): Show ACAGCTCCACACACACACACACAGCTCCACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	200	0.0050	42	c.882 others(59): Show c.882+1605_882+1606insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781231	A A	ACACACAC others(35): Show ACACACACACACAGCTCCACACACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01978.hp1 HG01993.hp1 others(21): Show HG00621.hp1 HG01978.hp1 HG01993.hp1 HG02056.hp1 HG02293.hp2 HG02451.hp2 HG02976.hp2 NA18612.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18999.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0018	a0001c0001t0001g0201 a0001c0001t0001g0293 a0001c0001t0003g0170 others(21): Show a0001c0001t0001g0201 a0001c0001t0001g0293 a0001c0001t0003g0170 a0001c0001t0005g0099 a0001c0001t0014g0122 a0001c0001t0014g0125 a0001c0003t0001g0045 a0001c0003t0001g0184 a0001c0003t0001g0206 a0001c0003t0002g0217 a0001c0003t0002g0218 a0001c0003t0003g0046 a0001c0003t0003g0048 a0001c0003t0003g0193 a0001c0003t0003g0194 a0001c0003t0003g0204 a0001c0003t0003g0210 a0001c0003t0003g0211 a0001c0003t0003g0212 a0001c0003t0003g0213 a0001c0003t0003g0229 a0001c0003t0003g0300 a0001c0003t0018g0051 a0001c0003t0018g0195	24	322	0.0745	42	c.882 others(59): Show c.882+1358_882+1359insGAGCTGTGTGTGTGTGTGTGTGTGTGGA GCTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781321	A A	ACACACAC others(35): Show ACACACACACACACAGCTCCACACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0207 a0001c0003t0003g0207	1	328	0.0030	42	c.882 others(59): Show c.882+1268_882+1269insGAGCTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781343	A A	ACACACAC others(35): Show ACACACACACACAGCTCCACACACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG01884.hp1 HG03209.hp1	a0001 a0001	a0001c0005 a0001c0052 a0001c0005 a0001c0052	a0001c0005t0007 a0001c0052t0007 a0001c0005t0007 a0001c0052t0007	a0001c0005t0007g0008 a0001c0052t0007g0039 a0001c0005t0007g0008 a0001c0052t0007g0039	2	319	0.0063	42	c.882 others(59): Show c.882+1246_882+1247insGAGCTGTGTGTGTGTGTGTGTGTGTGGA GCTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781467	A A	ACACACAC others(35): Show ACACACACACACACAGCTCCACACACACACACACACACAGCTC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0007 a0007	a0007c0041 a0007c0041	a0007c0041t0002 a0007c0041t0002	a0007c0041t0002g0089 a0007c0041t0002g0089	1	278	0.0036	42	c.882 others(59): Show c.882+1122_882+1123insGAGCTGTGTGTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0138 a0001c0004t0048g0138	1	13	0.0769	42	c.209 others(61): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTATATAT ATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	13	0.0769	42	c.209 others(61): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTATAT ATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0047 a0001c0051t0047	a0001c0051t0047g0156 a0001c0051t0047g0156	1	13	0.0769	42	c.209 others(61): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0024 a0001c0005t0007g0024	1	13	0.0769	42	c.209 others(61): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245640143	C C	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0116 a0001c0005t0001g0116	1	13	0.0769	42	c.209 others(61): Show c.2099-5977_2099-5976insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATAT	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848065	T T	TGATATAT others(35): Show TGATATATATGATATATCATATATATGATATATATGATATATC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0297 a0003c0004t0001g0297	1	338	0.0030	42	c.355 others(61): Show c.3556+2033_3556+2034insGATATATCATATATATCATATATATG ATATATCATATATATC	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
KIF6_chr6_39324990_39730408	39346132	C C	CCTCTCTC others(35): Show CCTCTCTCTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0127 a0001c0001t0050g0127	1	82	0.0122	42	c.223 others(59): Show c.2231+343_2232-343insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGGGAGAGAGAGAG	KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22			chr6	TogoVar
KIFAP3_chr1_169916329_170079695	169973105	G G	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	33	0.0303	42	c.189 others(59): Show c.1898-508_1898-507insTATATATATATATATATATATATATATA TATATATATATATA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFAP3_chr1_169916329_170079695	169973105	G G	GTGTATAT others(35): Show GTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01978.hp1 HG02451.hp2 others(6): Show HG00597.hp2 HG01978.hp1 HG02451.hp2 HG03471.hp1 HG03834.hp1 NA18974.hp1 NA18977.hp1 NA19012.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0001t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0032 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0083 a0001c0004t0001g0066	9	41	0.2195	42	c.189 others(59): Show c.1898-508_1898-507insTATATATATATATATATATATATATATA TATATATATATACA	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIFAP3_chr1_169916329_170079695	169973122	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18955.hp2 HG02074.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0217 a0001c0001t0003g0220	2	354	0.0056	42	c.189 others(59): Show c.1898-525_1898-524insTTATATATATATATATATATATATATAT ATATATATATATAT	KIFAP3	ENSG00000075945.13	transcript	ENST00000361580.7	protein_coding	16/19			chr1	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG01517.hp1 HG01109.hp2 HG01433.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0043 a0001c0001t0004 a0001c0001t0007 a0001c0001t0043	a0001c0001t0004g0101 a0001c0001t0007g0080 a0001c0001t0043g0109 a0001c0001t0004g0101 a0001c0001t0007g0080 a0001c0001t0043g0109	3	76	0.0395	42	c.55+ others(61): Show c.55+179103_55+179104insCACATATATATATATATATATATATA TATATATATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar
KIRREL3_chr11_126418358_127005770	126821351	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0022 a0001c0003t0006g0022	1	74	0.0135	42	c.55+ others(61): Show c.55+179103_55+179104insCACACATATATATATATATATATATA TATATATATATATATA	KIRREL3	ENSG00000149571.12	transcript	ENST00000525144.7	protein_coding	1/16			chr11	TogoVar

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