Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HRH3_chr20_62209960_62225278	62213413	G G	GGGGAGGG others(97): Show GGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGTAAG GGAGAGCGGGGATGGGGGAGGGAGAGCGGGGGATGGGGGAAGGGAGAGCA AGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0051 a0003c0007t0001g0051	1	368	0.0027	104	c.25 others(115): Show c.2592_*2593insATCCTTGCTCTCCCTTCCCCCATCCCCCGCTCTC CCTCCCCCATCCCCGCTCTCCCTTACCCCCCATCCCTGCTCTCCCTTCCC CCATCCCCGCTCTCCCTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1546		chr20	TogoVar
HSF1_chr8_144286604_144319720	144313723	G G	GCCCCGCC others(97): Show GCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCCTCC CCGCACCGCCTCCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGC CGCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	330	0.0030	104	c.124 others(119): Show c.1249-70_1249-69insACCGCCTCCCCGCACCGCCTCCCCGCGCCG CCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCTCCCCGCCTCCC CGCCCCGCCTCCCCGCCTCCCCGC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
HUS1B_chr6_650939_662100	658666	T T	TATATATT others(97): Show TATATATTTTATATATATATATATATATATATATATTTTATATATATATA TATATTTTATATATATATATATATATATATATATTTATATATATATATAT ATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	104	c.-17 others(115): Show c.-1723_-1722insTATATATATATATATATATAAATATATATATATA TATATATATATATAAAATATATATATATATATAAAATATATATATATATA TATATATATATAAAATATAT	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding		1567		chr6	TogoVar
ICOSLG_chr21_44217991_44245943	44225639	G G	GTGAGCTG others(97): Show GTGAGCTGGGGACAGCATGGGGAGGGGGACAGTGGGGAGGGGGGAGAGCG GGGTGAGCTGGGGACAGCATGGGGAGGGGGACAGTGGGGAGGGGGGAGAG CGGGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0014 a0003c0003t0013 a0001c0001t0014 a0003c0003t0013	a0001c0001t0014g0032 a0003c0003t0013g0013 a0001c0001t0014g0032 a0003c0003t0013g0013	2	41	0.0488	104	c.33 others(115): Show c.3394_*3395insACCCGCTCTCCCCCCTCCCCACTGTCCCCCTCCC CATGCTGTCCCCAGCTCACCCCGCTCTCCCCCCTCCCCACTGTCCCCCTC CCCATGCTGTCCCCAGCTCA	ICOSLG	ENSG00000160223.18	transcript	ENST00000407780.8	protein_coding	7/7	3394		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322585	A A	ACGGAATA others(97): Show ACGGAATATATATACGGAATATATATGGAATATATATACGGAATATATAT ACGGAATATATATACGGAATATATATACGGAATATATATACGGAATATAT ATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	323	0.0031	104	c.-24 others(115): Show c.-2471_-2470insCGGAATATATATACGGAATATATATGGAATATAT ATACGGAATATATATACGGAATATATATACGGAATATATATACGGAATAT ATATACGGAATATATATACG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2384		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323024	T T	TATATATA others(97): Show TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0172 a0001c0001t0018g0172	1	323	0.0031	104	c.-20 others(115): Show c.-2032_-2031insATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1945		chr21	TogoVar
IGF2R_chr6_159964082_160116504	159980226	A A	AGAAGGAA others(97): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0048 a0001c0004t0048	a0001c0004t0048g0259 a0001c0004t0048g0259	1	310	0.0032	104	c.149 others(123): Show c.149+10834_149+10835insGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAA	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IL1RAPL1_chrX_28582446_29961718	29168755	A A	ATATATTC others(97): Show ATATATTCATATGTACAATTGTATATGTATATTCATATGTACAATTGTAT ATGTATATTCATATGTACAATTGTATATATATATTCATATGTACAATTGT ATATG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	135	0.0074	104	c.83- others(123): Show c.83-114158_83-114157insGTATATTCATATGTACAATTGTATAT GTATATTCATATGTACAATTGTATATATATATTCATATGTACAATTGTAT ATGTATATTCATATGTACAATTGTATAT	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL33_chr9_6210807_6262983	6218907	T T	TATATGTT others(97): Show TATATGTTCTCCATATATATATATGTTCTCCATATATATATGTTCTCCAT ATATATATATGTTCTCCATATATATATATGTTCTCCATATATATATATGT TCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG03139.hp1 others(1): Show HG01884.hp2 HG02109.hp1 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0051 a0001c0001t0003g0003 a0001c0001t0003g0051	4	362	0.0111	104	c.-12 others(121): Show c.-12+3059_-12+3060insGTTCTCCATATATATATATGTTCTCCAT ATATATATGTTCTCCATATATATATATGTTCTCCATATATATATATGTTC TCCATATATATATATGTTCTCCATAT	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
ILRUN_chr6_34582288_34701767	34686896	C C	CAGTGAGC others(97): Show CAGTGAGCCGAGATCATTCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCCAAAAAAAAAAAAAAAAGAAAGGCAAGAATTCTCTGTATG CCCAG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02109.hp1 HG02970.hp1 others(5): Show HG01943.hp1 HG02109.hp1 HG02970.hp1 HG03139.hp2 HG03471.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0013 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0021 a0001c0002t0009	a0001c0001t0001g0010 a0001c0001t0001g0312 a0001c0001t0013g0313 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0312 a0001c0001t0013g0313 a0001c0001t0021g0314 a0001c0002t0009g0308 a0001c0002t0009g0309 a0001c0002t0009g0310 a0001c0002t0009g0311	8	316	0.0253	104	c.158 others(121): Show c.158+9549_158+9550insCTGGGCATACAGAGAATTCTTGCCTTTC TTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGAATGATCTCGGCTCACT	ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4			chr6	TogoVar
IMPA1_chr8_81651914_81691325	81688664	A A	AAAAGAAA others(97): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0092 a0001c0001t0009g0092	1	380	0.0026	104	c.-24 others(115): Show c.-2438_-2437insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding		2340		chr8	TogoVar
INF2_chr14_104684618_104727535	104720403	C C	CGTCGTCC others(97): Show CGTCGTCCTCGTGTGGATGCTGCTGTGCACGTCTGCATAGTCTCGTGTGG ATGCTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACG TCTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0028 a0001c0001t0038g0028	2	380	0.0053	104	c.16 others(115): Show c.1636_*1637insCACGTCTGCATAGTCTCGTGTGGATGCTGCTGTG CACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGTGTCGTC CTCGTGTGGATGCTGCTGTG	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23	5091	INFO_REALIGN_3_PRIME	chr14	TogoVar
INPP5A_chr10_132532787_132788480	132771713	T T	TGAAGAGT others(97): Show TGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGC CCCGTGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCACGGCAGCCAC CCCGC	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18962.hp1 NA19011.hp2 HG02523.hp1 NA18962.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0132 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0002g0132	3	204	0.0147	104	c.977 others(121): Show c.977+5879_977+5880insGGACACTCAGCACTGACACGGAGGCCCA GGCAGCCGCCCCGTGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCAC GGCAGCCACCCCGCGAAGAGTGGGAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772551	A A	AGAGGCCA others(97): Show AGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTG ACACAGAGGCCACGGCAGCCGCCCCGTGAAGAGTGGGGCACTCAGCACTG ACACG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	204	0.0049	104	c.978 others(121): Show c.978-5112_978-5111insAGCAGCCACCCGATGAAGAGTGGGACGG ACACTCAGCACTGACACAGAGGCCACGGCAGCCGCCCCGTGAAGAGTGGG GCACTCAGCACTGACACGGAGGCCAC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IPCEF1_chr6_154149496_154361803	154331405	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAAAGAAAGAGAGAGA GAGAAAGAAAGAGAACGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03225.hp1 HG01884.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0143 a0001c0001t0007g0091 a0001c0001t0004g0143 a0001c0001t0007g0091	2	264	0.0076	104	c.-62 others(123): Show c.-62+25266_-62+25267insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCGTTCTCTTTCTTTCTCTCTCTCTCTTTCTTTTTCTCT CTCTCTCTTTCTTTCTTTCTTTCTTTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154331405	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAAAGAAAGAGAGAGAGAGA AAGAAAGAGAACGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0146 a0001c0001t0007g0146	1	264	0.0038	104	c.-62 others(123): Show c.-62+25266_-62+25267insCTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCGTTCTCTTTCTTTCTCTCTCTCTCTTTCTTTTT CTCTCTCTCTCTTTCTTTCTTTCTTTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IQCA1_chr2_236319151_236512476	236357453	A A	ATATATTT others(97): Show ATATATTTATATATTACATATTTATATAGTATATGTATATTTATATATTC TATATTTATATAGTATATGTATATATAATATATATTTACATAGTATATGT ATATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	208	0.0048	104	c.186 others(123): Show c.1869+6326_1869+6327insAATATACATATACTATGTAAATATAT ATTATATATACATATACTATATAAATATAGAATATATAAATATACATATA CTATATAAATATGTAATATATAAATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCT CTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGTTTCT CTCTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0028 a0002c0006t0007g0028	1	222	0.0045	104	c.436 others(123): Show c.4368-1339_4368-1338insTCTCTCTCTCTCTCTCTCTCACTCTC GTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTG TTTCTCTCTCTCTCTCTCTCTCTCTCTC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRF4_chr6_386752_416443	396701	G G	GATGCCAG others(97): Show GATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTTTAACCCCGTC TCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCG TCTCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0107 a0001c0001t0036g0107	1	460	0.0022	104	c.493 others(119): Show c.493-394_493-393insCTATCTCAGCCTCTCCTGCACTCCTTTAAC CCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTA CCCCCGTCTCAATGCCAGTGCTTC	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
IRF4_chr6_386752_416443	396767	C C	CTATCTCA others(97): Show CTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCT TCCTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCGATGCCAGTG CTTCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	460	0.0022	104	c.493 others(119): Show c.493-314_493-313insCCCCCGTCTCAATGCCAGTGCTTCCTATCT CAGCCTCTCCTGCACTCCTTTACCCCCGTCTCGATGCCAGTGCTTCTTAT CTCAGCCTCTCCTGCACTCCTTTA	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITGA11_chr15_68291532_68437163	68400638	A A	AATATTAT others(97): Show AATATTATATATTATATAATAAATATTATATTATATATTATATAATAAAT ATTATATTATTATATATTATATAATAAATATATTATATATTATATAATAA ATATT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0053 a0007c0007t0053	a0007c0007t0053g0110 a0007c0007t0053g0110	1	242	0.0041	104	c.164 others(121): Show c.164+2279_164+2280insAATATTTATTATATAATATATAATATAT TTATTATATAATATATAATAATATAATATTTATTATATAATATATAATAT AATATTTATTATATAATATATAATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400861	A A	ATATAATA others(97): Show ATATAATATTATATATTATATAATAAATATAATATTATATATTATATAAT AAATATTATATTATGTATTATATAATAAATATTATAATATTATATATTAT ATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03516.hp1 HG02055.hp2 HG03516.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0022 a0004c0013t0104 a0001c0001t0022 a0004c0013t0104	a0001c0001t0022g0230 a0004c0013t0104g0231 a0001c0001t0022g0230 a0004c0013t0104g0231	2	242	0.0083	104	c.164 others(121): Show c.164+2056_164+2057insATTATATAATATATAATATTATAATATT TATTATATAATACATAATATAATATTTATTATATAATATATAATATTATA TTTATTATATAATATATAATATTATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA3_chr17_50051110_50095481	50086190	T T	TTATATAT others(97): Show TTATATATTATACATGTATAATATATATTAGATTATATATATTATACATG TATAATATATATATTAGATTATATATATTATACATGTATAATATATATTA GATTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0027 a0001c0024t0027	a0001c0024t0027g0148 a0001c0024t0027g0148	1	402	0.0025	104	c.292 others(123): Show c.2920-1527_2920-1526insTAGATTATATATATTATACATGTATA ATATATATATTAGATTATATATATTATACATGTATAATATATATTAGATT ATATATATTATACATGTATAATATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGAV_chr2_186585056_186685901	186605755	T T	TTTATATG others(97): Show TTTATATGTATAATACATATATTCTTATGTATATGTATAATACATATATT CTTATGTATATGTATAATACATATATTCTTATGTATATGTATAATACATA TATTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	308	0.0033	104	c.316 others(121): Show c.316+3604_316+3605insTTATATGTATAATACATATATTCTTATG TATATGTATAATACATATATTCTTATGTATATGTATAATACATATATTCT TATGTATATGTATAATACATATATTC	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	2/29			chr2	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406087	T T	TTGTCACT others(97): Show TTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGT GTGTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCA GTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0164 a0001c0001t0164	a0001c0001t0164g0168 a0001c0001t0164g0168	1	276	0.0036	104	c.74 others(113): Show c.746_*747insCACACTGAAGGCCTGAGGAAGCCTAGATGTCACAGA GGTCCACTCAGTGACACACACTGAAGGCCTGAGGAAGACGAGATGTCACA GAGGTCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	746		chr2	TogoVar
JAG2_chr14_105135995_105173776	105149868	T T	TGGGGAGG others(97): Show TGGGGAGGCAGGGTTGGGGGAGGTGGGGAAGGGGGTGGTAGGGAGGTGGG TGGGGGGAGGCAGGGTTGGGGGAGGTGGGGAAGGGGGTGGTAGGGAGGTG GGTGG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	364	0.0028	104	c.160 others(121): Show c.1602+632_1603-549dupCCACCCACCTCCCTACCACCCCCTTCCC CACCTCCCCCAACCCTGCCTCCCCCCACCCACCTCCCTACCACCCCCTTC CCCACCTCCCCCAACCCTGCCTCCCC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	12/25			chr14	TogoVar
JAK1_chr1_64828229_64971549	64913686	A A	AGGAAGGA others(97): Show AGGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03139.hp2 HG03209.hp2 others(2): Show HG01891.hp2 HG03139.hp2 HG03209.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 others(2): Show a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0214	5	326	0.0153	104	c.-77 others(123): Show c.-77-27346_-77-27345insCTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTTCTTTCCTTCCTTCC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64913709	G G	GAGGGAGG others(97): Show GAGGGAGGGAGGGAGGAAGGGAGAAAGGAAGGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0268 a0001c0005t0001g0268	1	326	0.0031	104	c.-77 others(123): Show c.-77-27369_-77-27368insTCTTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCT TCCTTTCTCCCTTCCTCCCTCCCTCCCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAKMIP2_chr5_147580438_147787728	147764920	A A	AAGAAAGA others(97): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGGG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0172 a0001c0001t0013g0172	1	250	0.0040	104	c.-14 others(125): Show c.-149+17535_-149+17536insCCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147764930	G G	GAAAGAAA others(97): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0244 a0001c0002t0085g0244	1	250	0.0040	104	c.-14 others(125): Show c.-149+17525_-149+17526insTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132159641	G G	GGGGGGCC others(97): Show GGGGGGCCTCTCCCTGTGTGATGCTGGGGGGTCCTCTCCCTGTGTGATGC TCAGGGGGCCTCTCCCTGTGTGATGCTGGGGGGTCCTCTCCCTGTGTGAT GCTCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	158	0.0063	104	c.222 others(123): Show c.2221-3528_2221-3527insGTGTGATGCTCAGGGGGCCTCTCCCT GTGTGATGCTGGGGGGTCCTCTCCCTGTGTGATGCTCAGGGGGCCTCTCC CTGTGTGATGCTGGGGGGTCCTCTCCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160026	T T	TGGGGGCG others(97): Show TGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGAT GCTGGGGGGCCTCTCGCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGA TGCTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0030 a0004c0030t0030	a0004c0030t0030g0084 a0004c0030t0030g0084	1	158	0.0063	104	c.222 others(123): Show c.2221-3179_2221-3178insGCGTGTCTTCCTGTGTGATGCTGGGG GCGTGTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCTGGG GGCGTGTCTTCCTGTGTGATGCTGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160210	G G	GCAGGGGG others(97): Show GCAGGGGGGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTGA TGCTGGGGAGCCTCTTCCAGTGTGATGCTGGGGGGTTCTCTTCCTGTGTG ATGCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0014 a0001c0001t0038g0014	1	158	0.0063	104	c.222 others(123): Show c.2221-2999_2221-2998insCAGGGGGGTCTATTCCTGTGTCTTAC TGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGATG CTGGGGGGTTCTCTTCCTGTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160710	G G	GAGCCTCT others(97): Show GAGCCTCTTCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTG GGGGGGGTCTCTTCCTGTGTGATGCTAGGGGGTCTCTTCCTGTGTGATGC TGGGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	158	0.0063	104	c.222 others(123): Show c.2221-2499_2221-2498insAGCCTCTTCCTGTGTGATGCAGGCGG TGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTCTTCCTGTGTGATGCTA GGGGGTCTCTTCCTGTGTGATGCTGGGT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160811	G G	GGGGGGGG others(97): Show GGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCACTGTGTGAT GCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGTCTTTCTGTGTG ATGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG03834.hp2 others(2): Show HG00099.hp2 HG00544.hp2 HG03834.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0001c0015 a0002c0026 others(1): Show a0001c0013 a0001c0015 a0002c0026 a0002c0047	a0001c0013t0001 a0001c0013t0016 a0001c0015t0001 others(2): Show a0001c0013t0001 a0001c0013t0016 a0001c0015t0001 a0002c0026t0001 a0002c0047t0022	a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0015t0001g0030 others(2): Show a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0015t0001g0030 a0002c0026t0001g0106 a0002c0047t0022g0045	5	158	0.0317	104	c.222 others(123): Show c.2221-2386_2221-2385insCCCTGTGTGATGCTGGGGGGGCCTCT CACTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGT CTTTCTGTGTGATGCTGGGGGGGCCTCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134069509	C C	CGGGTGGG others(97): Show CGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCATCC CCCGGGTGGGCTCCTCCCAGGCGGGGTCCTGTGCTGGGCGGTGGGCTCAT CCCCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0051 a0001c0001t0004g0051	1	390	0.0026	104	c.76+ others(117): Show c.76+447_76+448insATCCCCGGGGTGGGCTCCTCCCAGGCGGGGTC CTGTGCTGGGCGGTGGGCTCATCCCCCGGGTGGGCTCCTCCCAGGCGGGG TCCTGTGCTGGGCGGTGGGCTC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JMY_chr5_79231131_79332211	79270523	A A	ATATATTT others(97): Show ATATATTTACATAAATATTTAAAATATATATTTACATAAATATTTAAAAT GTATATTTACATAAATATTTACATAAAATATATATTTACATAAATATTTA AAATG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18999.hp1 NA18957.hp1 NA18999.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0148 a0004c0003t0004g0167 a0004c0003t0004g0148 a0004c0003t0004g0167	2	342	0.0059	104	c.103 others(123): Show c.1033-7363_1033-7362insATATATTTACATAAATATTTAAAATG TATATTTACATAAATATTTACATAAAATATATATTTACATAAATATTTAA AATGTATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
KCNJ6_chr21_37602373_37921457	37677771	T T	TCCATCCA others(97): Show TCCATCCATCCATCCATCCACCCACCCACCCACCCATCCACCCACCCACC CATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCACCCACCCA CCCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02257.hp1 HG00099.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0036 a0001c0001t0009 a0001c0001t0036	a0001c0001t0009g0001 a0001c0001t0036g0014 a0001c0001t0009g0001 a0001c0001t0036g0014	2	198	0.0101	104	c.946 others(123): Show c.946+36439_946+36440insGTGGGTGGGTGGGTGGATGGATGGAT GGGTGGGTGGGTGGGTGGATGGATGGATGGGTGGGTGGGTGGATGGGTGG GTGGGTGGGTGGATGGATGGATGGATGG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK1_chr1_233609106_233677514	233672630	T T	TATATATA others(97): Show TATATATATACATATGTATATATATGTATGTATATATATACATATGTATA TATATATATGTGTATATATATATATACGTATATATATGTGTATATATATA TATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA19079.hp1 NA18963.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0153 a0001c0001t0003g0154	2	422	0.0047	104	c.11 others(115): Show c.1100_*1101insATATATATACATATGTATATATATGTATGTATAT ATATACATATGTATATATATATATGTGTATATATATATATACGTATATAT ATGTGTATATATATATATAC	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		117		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672632	T T	TATATATA others(97): Show TATATATACATATGTATATATATGTATGTATATATATACATATGTATATA TATATATGTGTATATATATATATACGTATATATATGTGTATATATATATA TATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02683.hp1 others(3): Show HG01243.hp2 HG02280.hp2 HG02683.hp1 HG03540.hp2 HG03942.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0384 a0001c0001t0001g0407 a0001c0001t0001g0408 others(3): Show a0001c0001t0001g0384 a0001c0001t0001g0407 a0001c0001t0001g0408 a0001c0001t0002g0305 a0001c0001t0003g0107 a0001c0001t0003g0137	6	422	0.0142	104	c.11 others(115): Show c.1102_*1103insATATATACATATGTATATATATGTATGTATATAT ATACATATGTATATATATATATGTGTATATATATATATACGTATATATAT GTGTATATATATATATATAC	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		119		chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758141	T T	TATATATA others(97): Show TATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAG GATATATATATATATATATATCCAAGAGGATATATATATATATATATCCA AGAGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	232	0.0043	104	c.-67 others(123): Show c.-67-49162_-67-49161insATCCAAGAGGATATATATATATATAT ATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATAT ATATCCAAGAGGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KHDRBS2_chr6_61674961_62291225	61954349	A A	ATATGCAT others(97): Show ATATGCATGCATACATATATACGTATGTATGCATGCATACATATATACGT ATGTATGCATGCATACATATATACGTATGTATGCATGCATACATATATAC GTATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG01516.hp1 others(15): Show HG00099.hp1 HG00423.hp1 HG01516.hp1 HG01517.hp2 HG02040.hp1 HG02155.hp1 HG02559.hp1 HG03130.hp1 NA18960.hp1 NA18977.hp1 NA18978.hp1 NA18989.hp2 NA19002.hp2 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0002 a0001c0004t0005 a0001c0004t0008	a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 others(15): Show a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0133 a0001c0002t0002g0145 a0001c0002t0004g0199 a0001c0002t0004g0200 a0001c0002t0004g0201 a0001c0002t0004g0207 a0001c0002t0004g0211 a0001c0002t0004g0214 a0001c0002t0004g0216 a0001c0003t0002g0119 a0001c0004t0005g0151 a0001c0004t0008g0233 a0001c0004t0008g0234 a0001c0004t0008g0243	18	244	0.0738	104	c.483 others(123): Show c.483+23716_483+23717insCATACGTATATATGTATGCATGCATA CATACGTATATATGTATGCATGCATACATACGTATATATGTATGCATGCA TACATACGTATATATGTATGCATGCATA	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding	4/8			chr6	TogoVar
KIAA0930_chr22_45187244_45245894	45229125	C C	CCGCCATC others(97): Show CCGCCATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCAC TCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATC CCTCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp1 HG00280.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0313 a0001c0001t0022g0387 a0001c0001t0022g0313 a0001c0001t0022g0387	2	398	0.0050	104	c.64+ others(121): Show c.64+11514_64+11515insAGAGGGATCTTTCGGGTGAGTGGTGGGG GGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGG GATCTTTCGGGTGAGTGGTGATGGCG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF16B_chr20_16267104_16578448	16395291	A A	AGGGAGGG others(97): Show AGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGA GGGGAGGAGAGGGGAGGCAAGGGAGGGGAGGGGAGGAGAGGGGAGGCCAA GGGAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	250	0.0040	104	c.178 others(123): Show c.1784+9521_1784+9522insCTCCCTTGGCCTCCCCTCTCCTCCCC TCCCCTCCCTTGCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCTTGGCCT CCCCTCTCCTCCCCTCCCCTCCCCTCCC	KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25			chr20	TogoVar
KIF1A_chr2_240708767_240825219	240781189	A A	ACACACAG others(97): Show ACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACAC ACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACAC AGCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0208 a0001c0005t0001g0208	1	330	0.0030	104	c.882 others(121): Show c.882+1400_882+1401insGAGCTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTG GAGCTGTGTGTGTGTGGAGCTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KLHL13_chrX_117892813_118121810	118031420	A A	AATATATA others(97): Show AATATATATAGATATATATATTTAGATATATATATAGATATATATATTTA GATATATATATAGATATATATATTTAGATATATATATAGATATATATATT TAGAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02257.hp1 HG02559.hp1 others(11): Show HG01943.hp1 HG02257.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02717.hp1 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03041.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0059 others(11): Show a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070	14	207	0.0676	104	c.-24 others(121): Show c.-24-2924_-24-2923insATCTAAATATATATATCTATATATATAT CTAAATATATATATCTATATATATATCTAAATATATATATCTATATATAT ATCTAAATATATATATCTATATATAT	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	1/7			chrX	TogoVar
KLHL13_chrX_117892813_118121810	118031481	A A	AGATATAT others(97): Show AGATATATATATTTAGATATATATATAGATATATATATTTAGATATATAT ATAGATATATATATTTAGATATATATATAGATATATATATTTAGATATAT ATATC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02145.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0057 a0001c0003t0001g0058	2	207	0.0097	104	c.-24 others(121): Show c.-24-2985_-24-2984insGATATATATATCTAAATATATATATCTA TATATATATCTAAATATATATATCTATATATATATCTAAATATATATATC TATATATATATCTAAATATATATATC	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	1/7			chrX	TogoVar
KLHL18_chr3_47277944_47351816	47316723	G G	GTGTATAT others(97): Show GTGTATATATACATATATACGTGTATATGTATATGTGTGTATATATACAT ATATACGTATATATGTATATGTATATATGTGTATATATACACATATACGT ATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02486.hp1 NA19030.hp2 HG01934.hp2 HG02486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0062	3	338	0.0089	104	c.130 others(121): Show c.130-2927_130-2926insATATATACATATATACGTGTATATGTAT ATGTGTGTATATATACATATATACGTATATATGTATATGTATATATGTGT ATATATACACATATACGTATATATGT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL18_chr3_47277944_47351816	47316725	G G	GTATATAC others(97): Show GTATATACACATATATACGTATATATGTATATGTGTGTATATACACATAT ATACGTATATATGTATACGTATATATGTGTATATATACACATATATACGT ATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	338	0.0030	104	c.130 others(121): Show c.130-2927_130-2926insATATACACATATATACGTATATATGTAT ATGTGTGTATATACACATATATACGTATATATGTATACGTATATATGTGT ATATATACACATATATACGTATATAT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(97): Show GATATATATATATATATATATATATATATATACAAATTCCTTGTAAGGGA GGTACATAGCTTTATATATATATATATATATATATATATATATATATATA TATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0146 a0001c0001t0007g0146	1	182	0.0055	104	c.180 others(123): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATATATATATAAAGCTATGTACCTCCCTTACAAGGAATTTGTAT ATATATATATATATATATATATATATAT	KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10			chr13	TogoVar

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