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
ITK_chr5_157175840_157260185	157233947	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	348	0.0029	-18	c.768 others(35): Show c.768+1555_768+1572delATATATATATATATATTT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITLN2_chr1_160940025_160959809	160956882	TTAGCATT others(11): Show TTAGCATTAATGAGACAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	480	0.0021	-18	c.-21 others(29): Show c.-2159_-2142delCCTGTCTCATTAATGCTA	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2074		chr1	TogoVar
ITM2B_chr13_48228206_48275357	48229668	CTCTCTTT others(11): Show CTCTCTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03041.hp2 HG03225.hp2 others(4): Show HG02809.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0012 a0001c0001t0018 a0001c0001t0026 others(2): Show a0001c0001t0012 a0001c0001t0018 a0001c0001t0026 a0001c0001t0054 a0001c0005t0018	a0001c0001t0012g0045 a0001c0001t0018g0018 a0001c0001t0026g0124 others(3): Show a0001c0001t0012g0045 a0001c0001t0018g0018 a0001c0001t0026g0124 a0001c0001t0026g0127 a0001c0001t0054g0049 a0001c0005t0018g0018	7	338	0.0207	-18	c.-36 others(29): Show c.-3692_-3675delTCTCTTTTTTTTTTTTTT	ITM2B	ENSG00000136156.15	transcript	ENST00000647800.2	protein_coding		3537		chr13	TogoVar
ITM2B_chr13_48228206_48275357	48229670	CTCTTTTT others(11): Show CTCTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02622.hp1 HG02896.hp2 others(3): Show HG02257.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0024 a0001c0001t0008g0025	6	338	0.0178	-18	c.-36 others(29): Show c.-3690_-3673delTCTTTTTTTTTTTTTTTT	ITM2B	ENSG00000136156.15	transcript	ENST00000647800.2	protein_coding		3535		chr13	TogoVar
ITPR1_chr3_4488348_4852506	4807147	ACTTACAA others(11): Show ACTTACAAAGAGAGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 HG02055.hp2 others(10): Show HG01081.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(9): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0016 a0001c0025 a0001c0027 a0001c0031 a0001c0039 a0001c0053 a0001c0070	a0001c0002t0006 a0001c0004t0001 a0001c0004t0021 others(10): Show a0001c0002t0006 a0001c0004t0001 a0001c0004t0021 a0001c0005t0007 a0001c0006t0001 a0001c0012t0001 a0001c0016t0006 a0001c0025t0007 a0001c0027t0002 a0001c0031t0004 a0001c0039t0003 a0001c0053t0004 a0001c0070t0007	a0001c0002t0006g0075 a0001c0004t0001g0008 a0001c0004t0021g0115 others(10): Show a0001c0002t0006g0075 a0001c0004t0001g0008 a0001c0004t0021g0115 a0001c0005t0007g0024 a0001c0006t0001g0126 a0001c0012t0001g0009 a0001c0016t0006g0023 a0001c0025t0007g0112 a0001c0027t0002g0171 a0001c0031t0004g0127 a0001c0039t0003g0010 a0001c0053t0004g0030 a0001c0070t0007g0165	13	176	0.0739	-18	c.727 others(35): Show c.7272+907_7272+924delGAGAGGGGGGCTTACAAA	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	55/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26566427	TAAGAGGA others(11): Show TAAGAGGAGAAGGAGAGGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp2 HG02055.hp1 HG03453.hp2	a0001 a0007 a0001 a0007	a0001c0035 a0007c0036 a0001c0035 a0007c0036	a0001c0035t0027 a0007c0036t0015 a0001c0035t0027 a0007c0036t0015	a0001c0035t0027g0026 a0007c0036t0015g0101 a0001c0035t0027g0026 a0007c0036t0015g0101	2	142	0.0141	-18	c.463 others(37): Show c.4631-4493_4631-4476delTCCTCTCCTTCTCCTCTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26589811	AATAAATA others(11): Show AATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03017.hp1 NA18960.hp1 others(1): Show HG02895.hp1 HG03017.hp1 NA18960.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0001c0012	a0001c0001t0035 a0001c0005t0005 a0001c0007t0005 others(1): Show a0001c0001t0035 a0001c0005t0005 a0001c0007t0005 a0001c0012t0005	a0001c0001t0035g0053 a0001c0005t0005g0086 a0001c0007t0005g0041 others(1): Show a0001c0001t0035g0053 a0001c0005t0005g0086 a0001c0007t0005g0041 a0001c0012t0005g0023	4	142	0.0282	-18	c.438 others(37): Show c.4380+5636_4380+5653delATTTATTTATTTATTTAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	32/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31519610	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02738.hp2 HG00733.hp1 HG02738.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0011 a0004c0017t0011	a0004c0017t0011g0305 a0004c0017t0011g0306 a0004c0017t0011g0305 a0004c0017t0011g0306	2	312	0.0064	-18	c.-98 others(35): Show c.-98+5492_-98+5509delCTCTCTCTCTATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31520515	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0006 a0003c0021t0006	a0003c0021t0006g0225 a0003c0021t0006g0225	1	312	0.0032	-18	c.-98 others(35): Show c.-98+6428_-98+6445delTGTGTGTGTGTGTGTGTG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31520552	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03225.hp1 HG03130.hp1 HG03225.hp1	a0004 a0007 a0004 a0007	a0004c0017 a0007c0015 a0004c0017 a0007c0015	a0004c0017t0025 a0007c0015t0009 a0004c0017t0025 a0007c0015t0009	a0004c0017t0025g0134 a0007c0015t0009g0162 a0004c0017t0025g0134 a0007c0015t0009g0162	2	312	0.0064	-18	c.-98 others(35): Show c.-98+6434_-98+6451delTGTGTGTGTGTGAGAGAG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31520554	TGTGTGTG others(11): Show TGTGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18954.hp1 NA18957.hp1 HG01074.hp2 NA18954.hp1 NA18957.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0003 a0007c0015 a0001c0002 a0001c0003 a0007c0015	a0001c0002t0002 a0001c0003t0001 a0007c0015t0009 a0001c0002t0002 a0001c0003t0001 a0007c0015t0009	a0001c0002t0002g0037 a0001c0003t0001g0230 a0007c0015t0009g0133 a0001c0002t0002g0037 a0001c0003t0001g0230 a0007c0015t0009g0133	3	312	0.0096	-18	c.-98 others(35): Show c.-98+6436_-98+6453delTGTGTGTGTGAGAGAGAG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL1_chr2_96320317_96333353	96329149	TTATATAT others(11): Show TTATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02572.hp2 NA18939.hp2 others(5): Show HG00673.hp1 HG02572.hp2 NA18939.hp2 NA18946.hp1 NA18956.hp2 NA18967.hp2 NA19055.hp1 NA19077.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0002 a0003c0003t0001g0002 a0002c0002t0001g0002 a0003c0003t0001g0002	8	364	0.0220	-18	c.85 others(27): Show c.851_*868delTATATATATATATATATA	ITPRIPL1	ENSG00000198885.10	transcript	ENST00000439118.3	protein_coding		797		chr2	TogoVar
ITPRIP_chr10_104304700_104343465	104306052	TGTGCGCG others(11): Show TGTGCGCGCGCGCGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02109.hp2 HG02165.hp1 others(3): Show HG02015.hp1 HG02109.hp2 HG02165.hp1 HG03486.hp2 NA18957.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0032 a0001c0001t0003g0113 a0001c0001t0003g0179 others(3): Show a0001c0001t0001g0032 a0001c0001t0003g0113 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0008g0079 a0001c0001t0009g0084	6	324	0.0185	-18	c.83 others(29): Show c.8338_*8355delGCGCGCGCGCGCGCGCAC	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		3647		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690775	GTATATAT others(11): Show GTATATATATATATACATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01891.hp2 others(13): Show HG00323.hp1 HG00597.hp2 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02109.hp2 HG02165.hp2 HG02698.hp2 HG02723.hp1 HG03017.hp1 NA18956.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA19000.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0021 a0001c0002t0004 a0001c0002t0047 a0001c0002t0064 a0001c0007t0003 a0002c0004t0004	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0090 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0090 a0001c0001t0001g0106 a0001c0001t0002g0021 a0001c0001t0002g0135 a0001c0001t0003g0112 a0001c0001t0004g0215 a0001c0001t0019g0028 a0001c0001t0021g0079 a0001c0002t0004g0053 a0001c0002t0047g0132 a0001c0002t0064g0233 a0001c0007t0003g0024 a0002c0004t0004g0025 a0002c0004t0004g0045	16	242	0.0661	-18	c.-32 others(37): Show c.-32-28007_-32-27990delCATATATATATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24320525	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02258.hp1 HG02717.hp2	a0003 a0012 a0003 a0012	a0003c0010 a0012c0013 a0003c0010 a0012c0013	a0003c0010t0005 a0012c0013t0001 a0003c0010t0005 a0012c0013t0001	a0003c0010t0005g0222 a0012c0013t0001g0198 a0003c0010t0005g0222 a0012c0013t0001g0198	2	224	0.0089	-18	c.32- others(33): Show c.32-5319_32-5302delTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
IVNS1ABP_chr1_185291388_185322243	185307255	TAATTTGT others(11): Show TAATTTGTAAGGAACCAGG	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	380	0.0026	-18	c.532 others(33): Show c.532-134_532-117delCCTGGTTCCTTACAAATT	IVNS1ABP	ENSG00000116679.16	transcript	ENST00000367498.8	protein_coding	6/14			chr1	TogoVar
IZUMO2_chr19_50147548_50168281	50163955	TATATATA others(11): Show TATATATATATATATATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01255.hp1 HG00733.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0034 a0001c0001t0001g0047	2	394	0.0051	-18	c.-77 others(27): Show c.-779_-762delCTATATATATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		675		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163959	TATATATA others(11): Show TATATATATATATAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02896.hp1 HG02723.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0107 a0001c0001t0001g0120	2	394	0.0051	-18	c.-78 others(27): Show c.-783_-766delCTCTCTATATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		679		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163961	TATATATA others(11): Show TATATATATATAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG03471.hp1 NA18987.hp2 others(1): Show HG02273.hp2 HG03471.hp1 NA18987.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0038 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0098	4	394	0.0102	-18	c.-78 others(27): Show c.-785_-768delCTCTCTCTATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		681		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163963	TATATATA others(11): Show TATATATATAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03098.hp2 HG03540.hp2 others(2): Show HG02809.hp1 HG03098.hp2 HG03540.hp2 NA19068.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0050 a0001c0001t0001g0109	5	394	0.0127	-18	c.-78 others(27): Show c.-787_-770delCTCTCTCTCTATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		683		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163965	TATATATA others(11): Show TATATATAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	394	0.0025	-18	c.-78 others(27): Show c.-789_-772delCTCTCTCTCTCTATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		685		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163967	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02965.hp2 HG03579.hp2 others(1): Show HG02071.hp2 HG02965.hp2 HG03579.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0043 a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0043	4	394	0.0102	-18	c.-79 others(27): Show c.-791_-774delCTCTCTCTCTCTCTATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		687		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163971	TAGAGAGA others(11): Show TAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	394	0.0025	-18	c.-79 others(27): Show c.-795_-778delCTCTCTCTCTCTCTCTCT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		691		chr19	TogoVar
IZUMO3_chr9_24537952_24550897	24546420	CCTTCCTT others(11): Show CCTTCCTTCCTTCCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0024	-18	c.-78 others(27): Show c.-789_-772delAAGAAGGAAGGAAGGAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		524		chr9	TogoVar
JADE1_chr4_128804700_128880224	128809982	ACGGCGGC others(11): Show ACGGCGGCGGCGGCGGCGG	A A	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	278	0.0036	-18	c.-27 others(33): Show c.-27+110_-27+127delGGCGGCGGCGGCGGCGGC	JADE1	ENSG00000077684.16	transcript	ENST00000226319.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
JADE2_chr5_134520670_134588227	134540229	TTACTTTT others(11): Show TTACTTTTGAGACAAGGTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0336 a0008c0008t0002g0336	1	388	0.0026	-18	c.153 others(35): Show c.153+2148_153+2165delACTTTTGAGACAAGGTCT	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
JADE2_chr5_134520670_134588227	134587997	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0238 a0001c0002t0014g0238	1	388	0.0026	-18	c.86 others(29): Show c.8681_*8698delAAAAAAAAAAAAAAAAAA	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding		4771		chr5	TogoVar
JADE3_chrX_46907421_47066242	46911412	CACACACA others(11): Show CACACACACATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	258	0.0039	-18	c.-13 others(29): Show c.-1318_-1301delACACACACATATATATAT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding		1008		chrX	TogoVar
JADE3_chrX_46907421_47066242	47007807	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	258	0.0039	-18	c.284 others(35): Show c.284+9562_284+9579delGTGTGTGTGTGTGTGTGT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAG1_chr20_10632684_10678999	10669547	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp2 HG02486.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0012 a0001c0006t0021 a0001c0004t0012 a0001c0006t0021	a0001c0004t0012g0318 a0001c0006t0021g0317 a0001c0004t0012g0318 a0001c0006t0021g0317	2	412	0.0049	-18	c.387 others(35): Show c.387+3136_387+3153delTTTTTTTTTTTTTTTTTT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAG2_chr14_105135995_105173776	105151195	AGCAGCCC others(11): Show AGCAGCCCCAGCAGCCCCC	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19240.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0241 a0001c0001t0001g0243	2	364	0.0055	-18	c.126 others(33): Show c.1267+70_1267+87delGGGGGCTGCTGGGGCTGC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	9/25			chr14	TogoVar
JAK1_chr1_64828229_64971549	64897519	GGAGGGGG others(11): Show GGAGGGGGAGGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0260 a0001c0005t0001g0260	1	326	0.0031	-18	c.-77 others(37): Show c.-77-11196_-77-11179delTCCTCCTCCCTCCCCCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK1_chr1_64828229_64971549	64897525	GGAGGGAG others(11): Show GGAGGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(71): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02165.hp2 HG02293.hp1 HG02523.hp1 HG02698.hp1 HG02895.hp2 HG02965.hp1 HG03130.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18951.hp2 NA18957.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18981.hp2 NA18986.hp1 NA18989.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19057.hp2 NA19066.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0012 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0003 a0001c0008t0001 a0001c0015t0002	a0001c0002t0001g0042 a0001c0002t0001g0077 a0001c0002t0001g0092 others(71): Show a0001c0002t0001g0042 a0001c0002t0001g0077 a0001c0002t0001g0092 a0001c0002t0001g0232 a0001c0002t0001g0311 a0001c0002t0002g0010 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0026 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0073 a0001c0002t0002g0076 a0001c0002t0002g0080 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0108 a0001c0002t0002g0132 a0001c0002t0002g0144 a0001c0002t0002g0147 a0001c0002t0002g0159 a0001c0002t0002g0174 a0001c0002t0002g0228 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0294 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0320 a0001c0002t0008g0025 a0001c0002t0012g0044 a0001c0003t0001g0023 a0001c0004t0002g0066 a0001c0004t0002g0071 a0001c0005t0001g0121 a0001c0006t0003g0014 a0001c0006t0003g0054 a0001c0006t0003g0055 a0001c0006t0003g0056 a0001c0008t0001g0110 a0001c0015t0002g0043	74	326	0.2270	-18	c.-77 others(37): Show c.-77-11202_-77-11185delTCCTCCTCCTCCTCCCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01516.hp1 HG02257.hp2 others(6): Show HG01261.hp1 HG01516.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0003t0003 a0001c0003t0021 a0001c0004t0006 a0001c0010t0006	a0001c0001t0002g0225 a0001c0001t0002g0254 a0001c0001t0005g0152 others(6): Show a0001c0001t0002g0225 a0001c0001t0002g0254 a0001c0001t0005g0152 a0001c0001t0011g0154 a0001c0003t0003g0305 a0001c0003t0003g0311 a0001c0003t0021g0024 a0001c0004t0006g0036 a0001c0010t0006g0016	9	364	0.0247	-18	c.-25 others(37): Show c.-25-16848_-25-16831delTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5103221	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA20300.hp1 NA19009.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0016 a0001c0016t0002 a0001c0002t0016 a0001c0016t0002	a0001c0002t0016g0282 a0001c0016t0002g0198 a0001c0002t0016g0282 a0001c0016t0002g0198	2	364	0.0055	-18	c.305 others(39): Show c.3059+12327_3059+12344delAAAAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5105987	CAGGACAT others(11): Show CAGGACATAGGTGTGGGCA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(97): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02965.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18986.hp1 NA18991.hp1 NA18999.hp1 NA19000.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19075.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0018 a0001c0019 a0003c0020 a0004c0011	a0001c0001t0010 a0001c0002t0001 a0001c0002t0008 others(18): Show a0001c0001t0010 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0016 a0001c0002t0018 a0001c0002t0019 a0001c0002t0025 a0001c0002t0033 a0001c0002t0034 a0001c0002t0039 a0001c0002t0057 a0001c0002t0058 a0001c0003t0001 a0001c0003t0008 a0001c0007t0040 a0001c0018t0050 a0001c0019t0001 a0003c0020t0025 a0004c0011t0001	a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 others(95): Show a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0064 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0284 a0001c0002t0008g0268 a0001c0002t0008g0269 a0001c0002t0008g0270 a0001c0002t0008g0271 a0001c0002t0008g0285 a0001c0002t0008g0286 a0001c0002t0010g0113 a0001c0002t0010g0126 a0001c0002t0010g0272 a0001c0002t0012g0100 a0001c0002t0016g0282 a0001c0002t0018g0098 a0001c0002t0018g0099 a0001c0002t0018g0360 a0001c0002t0019g0148 a0001c0002t0019g0149 a0001c0002t0019g0150 a0001c0002t0025g0280 a0001c0002t0033g0129 a0001c0002t0034g0128 a0001c0002t0039g0258 a0001c0002t0057g0102 a0001c0002t0058g0267 a0001c0003t0001g0092 a0001c0003t0001g0181 a0001c0003t0008g0299 a0001c0003t0008g0300 a0001c0007t0040g0068 a0001c0018t0050g0147 a0001c0019t0001g0132 a0003c0020t0025g0123 a0004c0011t0001g0091	100	364	0.2747	-18	c.305 others(39): Show c.3059+15082_3059+15099delATAGGTGTGGGCAAGGAC	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00673.hp1 others(18): Show HG00423.hp1 HG00597.hp1 HG00673.hp1 HG02129.hp1 HG02273.hp2 HG02523.hp2 HG03225.hp2 HG03942.hp1 NA18612.hp1 NA18942.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18960.hp2 NA18970.hp2 NA18973.hp2 NA18984.hp2 NA18998.hp1 NA19002.hp1 NA19005.hp1 NA19067.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0016 a0001c0001 a0001c0005 a0006c0016	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0062 a0001c0001t0064 a0001c0001t0081 a0001c0001t0088 a0001c0001t0089 a0001c0005t0003 a0006c0016t0002	a0001c0001t0003g0186 a0001c0001t0004g0351 a0001c0001t0005g0275 others(13): Show a0001c0001t0003g0186 a0001c0001t0004g0351 a0001c0001t0005g0275 a0001c0001t0011g0004 a0001c0001t0011g0017 a0001c0001t0011g0098 a0001c0001t0011g0102 a0001c0001t0012g0206 a0001c0001t0014g0016 a0001c0001t0062g0174 a0001c0001t0064g0175 a0001c0001t0081g0291 a0001c0001t0088g0353 a0001c0001t0089g0325 a0001c0005t0003g0018 a0006c0016t0002g0179	21	414	0.0507	-18	c.320 others(35): Show c.3208-825_3208-808delTTTTTTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAK3_chr19_17819782_17852982	17844041	CTCCGTCT others(11): Show CTCCGTCTGCACAGGCCAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0357 a0001c0001t0008g0357	1	414	0.0024	-18	c.185 others(33): Show c.185-159_185-142delATGGCCTGTGCAGACGGA	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	2/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6098704	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03927.hp2 others(3): Show HG03130.hp1 HG03453.hp2 HG03927.hp2 HG03942.hp2 NA18941.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0086 a0001c0001t0001g0187 a0001c0001t0001g0206 a0001c0001t0002g0229	6	233	0.0258	-18	c.624 others(35): Show c.624+6751_624+6768delTTCTTTCTTTCTTTCTTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6098721	AAAAAGAA others(11): Show AAAAAGAAAGAAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00673.hp1 others(23): Show HG00621.hp2 HG00639.hp2 HG00673.hp1 HG01167.hp2 HG02071.hp1 HG02818.hp2 HG03041.hp2 HG03098.hp1 HG03540.hp1 HG03704.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18949.hp2 NA18950.hp2 NA18957.hp1 NA18964.hp2 NA18966.hp1 NA18999.hp1 NA19011.hp2 NA19066.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0031 others(23): Show a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0002g0227 a0001c0003t0001g0029 a0001c0005t0001g0169 a0001c0007t0001g0017	26	233	0.1116	-18	c.624 others(35): Show c.624+6734_624+6751delCTTCTCTTTCTTTCTTTT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6152793	TATATATA others(11): Show TATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01993.hp2 HG02109.hp2 others(7): Show HG01255.hp2 HG01993.hp2 HG02109.hp2 HG02922.hp1 HG02970.hp2 HG03130.hp1 HG03225.hp1 HG04199.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0002 a0001c0001t0001 a0001c0002t0001 a0001c0008t0002	a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0068 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0068 a0001c0001t0001g0177 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0002t0001g0144 a0001c0008t0002g0230	10	233	0.0429	-18	c.-14 others(39): Show c.-147-39814_-147-39797delGTATATATATATATATAT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6169994	CCACCACC others(11): Show CCACCACCACCACCACCCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03209.hp2 HG03486.hp1 others(1): Show HG02970.hp2 HG03209.hp2 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0062 a0001c0001t0001g0090 a0001c0001t0001g0177 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0090 a0001c0001t0001g0177 a0001c0003t0001g0152	4	233	0.0172	-18	c.-14 others(39): Show c.-148+30241_-148+30258delAGGGTGGTGGTGGTGGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6170044	CCACCATC others(11): Show CCACCATCACCACTCTCAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	233	0.0043	-18	c.-14 others(39): Show c.-148+30191_-148+30208delATGAGAGTGGTGATGGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6171177	CCACCACC others(11): Show CCACCACCATCACCATCAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG03195.hp1 others(1): Show HG02818.hp1 HG02976.hp2 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0184 a0001c0002t0001g0057 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0184 a0001c0002t0001g0057 a0001c0002t0001g0150	4	233	0.0172	-18	c.-14 others(39): Show c.-148+29058_-148+29075delATGATGGTGATGGTGGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147618157	TTGATATC others(11): Show TTGATATCTGGTGTGGGAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00609.hp1 others(34): Show HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00735.hp2 HG01071.hp2 HG01106.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp1 HG02818.hp1 HG03195.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG04199.hp1 HG06807.hp1 NA18953.hp1 NA18955.hp1 NA18962.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18993.hp2 NA19011.hp2 NA19054.hp1 NA19057.hp1 NA19070.hp2 NA19088.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(2): Show a0001c0001 a0001c0002 a0001c0009 a0001c0019 a0002c0013	a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 others(11): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0056 a0001c0002t0019 a0001c0002t0081 a0001c0009t0001 a0001c0009t0009 a0001c0019t0002 a0002c0013t0077	a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0020 others(34): Show a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0107 a0001c0001t0002g0124 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0009g0029 a0001c0001t0009g0030 a0001c0001t0009g0035 a0001c0001t0009g0053 a0001c0001t0019g0200 a0001c0001t0036g0073 a0001c0001t0042g0059 a0001c0001t0043g0064 a0001c0001t0046g0148 a0001c0001t0056g0060 a0001c0002t0019g0213 a0001c0002t0019g0229 a0001c0002t0081g0212 a0001c0009t0001g0041 a0001c0009t0001g0071 a0001c0009t0009g0054 a0001c0019t0002g0036 a0002c0013t0077g0204	37	250	0.1480	-18	c.214 others(33): Show c.2143-61_2143-44delCTCCCACACCAGATATCA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	18/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147690539	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0032 a0001c0003t0001g0134 a0001c0001t0001g0032 a0001c0003t0001g0134	2	250	0.0080	-18	c.-14 others(39): Show c.-148-18603_-148-18586delTATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147702644	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0167 a0001c0001t0024g0167	1	250	0.0040	-18	c.-14 others(39): Show c.-148-30708_-148-30691delTTCTTTCTTTCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147764951	AGAGAGAG others(11): Show AGAGAGAGAGAGAGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	250	0.0040	-18	c.-14 others(39): Show c.-149+17487_-149+17504delCCCCTCTCTCTCTCTCTC	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132080503	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03471.hp1 HG02165.hp1 HG03471.hp1	a0001 a0003 a0001 a0003	a0001c0022 a0003c0003 a0001c0022 a0003c0003	a0001c0022t0002 a0003c0003t0001 a0001c0022t0002 a0003c0003t0001	a0001c0022t0002g0080 a0003c0003t0001g0064 a0001c0022t0002g0080 a0003c0003t0001g0064	2	158	0.0127	-18	c.-13 others(39): Show c.-138+14461_-138+14478delTTTTTTTTTTTTTTTTTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132103437	TGGGGGAG others(11): Show TGGGGGAGAGGAGCAGCTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0002 a0008c0044t0002	a0008c0044t0002g0031 a0008c0044t0002g0031	1	158	0.0063	-18	c.-13 others(37): Show c.-137-1229_-137-1212delAGAGGAGCAGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar

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