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
IPO11_chr5_62407763_62633582	62598529	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	328	0.0030	33	c.267 others(52): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29			chr5	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18964.hp2 NA18956.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0230 a0001c0001t0001g0231	2	97	0.0206	33	c.205 others(50): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	25	0.0400	33	c.85- others(48): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAAATATATATATATAT ATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0179 a0001c0001t0005g0179	1	25	0.0400	33	c.85- others(48): Show c.85-5948_85-5947insAAAAAAAAAAAAAAATATATATATATATAT ATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	25	0.0400	33	c.85- others(48): Show c.85-5948_85-5947insAAAAAAAAAAATATATATATATATATATAT ATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	25	0.0400	33	c.85- others(48): Show c.85-5948_85-5947insAAAAAAAAATATATATATATATATATATAT ATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18962.hp1 NA19057.hp1 HG02257.hp1 NA18962.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0108 a0001c0001t0001g0152 a0001c0001t0001g0159	3	27	0.1111	33	c.85- others(48): Show c.85-5948_85-5947insAAAAAAATATATATATATATATATATATAT ATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03098.hp1 others(1): Show HG02896.hp1 HG02897.hp2 HG03098.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0154 a0001c0001t0003g0133	4	28	0.1429	33	c.85- others(48): Show c.85-5948_85-5947insAAAAATATATATATATATATATATATATAT ATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	25	0.0400	33	c.85- others(48): Show c.85-5948_85-5947insAAATATATATATATATATATATATATATAT ATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	217	0.0046	33	c.226 others(50): Show c.2268+503_2268+504insATATATATATATATATATATATATATAT TTTTT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQANK1_chr8_143729139_143795645	143748465	C C	CATGATAT others(26): Show CATGATATATAATATATAAATATAGATGATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA18955.hp2 NA18990.hp2 HG01071.hp1 NA18955.hp2 NA18990.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0123 a0002c0002t0001g0250 a0004c0004t0001g0177 a0001c0001t0001g0123 a0002c0002t0001g0250 a0004c0004t0001g0177	3	348	0.0086	33	c.175 others(50): Show c.175+8577_175+8609dupGATATATATGATATATAATATATAAATA TAGAT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236356969	T T	TTATATAT others(26): Show TTATATATATTCATATATTATATATCTATATATA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18984.hp2 NA19002.hp2 NA18978.hp2 NA18984.hp2 NA19002.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0052 a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0001g0052 a0003c0003t0003g0005 a0003c0003t0003g0008	3	128	0.0234	33	c.186 others(52): Show c.1869+6810_1869+6811insTATATATAGATATATAATATATGAAT ATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236357320	A A	AGTATATA others(26): Show AGTATATATTCATATATTATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG02895.hp2 others(4): Show HG02055.hp2 HG02615.hp2 HG02895.hp2 HG02976.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0045 a0001c0001t0002g0190 a0001c0001t0004g0053 others(4): Show a0001c0001t0001g0045 a0001c0001t0002g0190 a0001c0001t0004g0053 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196	7	204	0.0343	33	c.186 others(52): Show c.1869+6459_1869+6460insATATATAAATATATATAATATATGAA TATATAC	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236358023	A A	ATGAATAT others(26): Show ATGAATATATATTTATAATATATAGATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0009 a0002c0023t0009	a0002c0023t0009g0177 a0002c0023t0009g0177	1	193	0.0052	33	c.186 others(52): Show c.1869+5756_1869+5757insAATATATATCTATATATTATAAATAT ATATTCA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236481866	T T	TAATTCTA others(26): Show TAATTCTATGTATAATTCTACATATTATATGTAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0025 a0001c0001t0007g0025	1	205	0.0049	33	c.720 others(50): Show c.720+4930_720+4962dupCTACATATAATATGTAGAATTATACATA GAATT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	5/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236481866	T T	TAATTCTA others(26): Show TAATTCTATGTATAATTCTACATATTATATTTAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	205	0.0049	33	c.720 others(50): Show c.720+4962_720+4963insCTAAATATAATATGTAGAATTATACATA GAATT	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	5/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236482057	A A	ATATGTAT others(26): Show ATATGTATAATTCTACATATTATATGTATAATTC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02257.hp2 HG02258.hp2 others(4): Show HG01099.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG03579.hp1 NA18906.hp2	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0009c0016 a0010c0014 a0001c0001 a0009c0016 a0010c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0009c0016t0001 a0010c0014t0002	a0001c0001t0001g0170 a0001c0001t0002g0040 a0001c0001t0002g0041 others(4): Show a0001c0001t0001g0170 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0004g0060 a0009c0016t0001g0037 a0010c0014t0002g0163	7	206	0.0340	33	c.720 others(50): Show c.720+4739_720+4771dupGAATTATACATATAATATGTAGAATTAT ACATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	5/18			chr2	TogoVar
IQCE_chr7_2553979_2619728	2612527	C C	CCATGGGA others(26): Show CCATGGGAGGGGTGAGCTGTGGGCGGGGCCTAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0410 a0001c0001t0094g0410	1	414	0.0024	33	c.23 others(44): Show c.2394_*2426dupCTAGTCATGGGAGGGGTGAGCTGTGGGCGGGGC	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	22/22	2427	INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCE_chr7_2553979_2619728	2612716	A A	AGGTGAGC others(26): Show AGGTGAGCTGTGGGCGGGGCCTAGTCATGGGAGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG03704.hp2 HG00099.hp1 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0038 a0001c0003t0038	a0001c0003t0038g0249 a0001c0003t0038g0251 a0001c0003t0038g0249 a0001c0003t0038g0251	2	414	0.0048	33	c.25 others(44): Show c.2567_*2599dupGCGGGGCCTAGTCATGGGAGGGGTGAGCTGTGG	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	22/22	2600	INFO_REALIGN_3_PRIME	chr7	TogoVar
IQCG_chr3_197884077_197964991	197892563	C C	CTCCTCAG others(26): Show CTCCTCAGTGAGCACCCTAATTCCTTTCACTCTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03139.hp2 HG03453.hp1 HG02717.hp1 HG03139.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0004 a0001c0004t0001 a0002c0002t0004	a0001c0004t0001g0042 a0002c0002t0004g0003 a0002c0002t0004g0010 a0001c0004t0001g0042 a0002c0002t0004g0003 a0002c0002t0004g0010	3	272	0.0110	33	c.109 others(48): Show c.1095+32_1095+64dupCAGAGTGAAAGGAATTAGGGTGCTCACTGA GGA	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	10/11			chr3	TogoVar
IQCG_chr3_197884077_197964991	197892576	A A	ACCCTAAT others(26): Show ACCCTAATTCCTTTCACTCTGTCCTCAGTGAGCG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01433.hp1 HG02698.hp1 HG01169.hp2 HG01433.hp1 HG02698.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0001 a0002c0002t0002 a0005c0006t0001 a0001c0001t0001 a0002c0002t0002 a0005c0006t0001	a0001c0001t0001g0139 a0002c0002t0002g0017 a0005c0006t0001g0218 a0001c0001t0001g0139 a0002c0002t0002g0017 a0005c0006t0001g0218	3	278	0.0108	33	c.109 others(48): Show c.1095+19_1095+51dupCGCTCACTGAGGACAGAGTGAAAGGAATTA GGG	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	10/11			chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	161	0.0062	33	c.690 others(50): Show c.690+9500_690+9501insAAAAAAAAAAAAAAAAAAAAAAATATAT ATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCM_chr4_149346709_149820843	149481696	G G	GTTTTGTT others(26): Show GTTTTGTTTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	101	0.0099	33	c.122 others(54): Show c.1229-48140_1229-48139insAAAAAAAAAAAAAAAAAAAAAAAC AAAACAAAA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IRAG2_chr12_25047706_25113335	25077308	G G	GATATATA others(26): Show GATATATATGATATATATATGATATATATATGAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp1 HG03130.hp2 HG06807.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0003 a0005c0006t0007 a0003c0003t0003 a0005c0006t0007	a0003c0003t0003g0049 a0005c0006t0007g0051 a0003c0003t0003g0049 a0005c0006t0007g0051	2	299	0.0067	33	c.25- others(48): Show c.25-1904_25-1903insTATATATATGATATATATATGATATATATA TGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01123.hp1 others(2): Show HG00099.hp2 HG00639.hp1 HG01123.hp1 HG01256.hp2 HG01515.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0002 a0003c0003t0004	a0003c0003t0002g0202 a0003c0003t0002g0286 a0003c0003t0004g0315 others(2): Show a0003c0003t0002g0202 a0003c0003t0002g0286 a0003c0003t0004g0315 a0003c0003t0004g0316 a0003c0003t0004g0319	5	6	0.8333	33	c.76 others(42): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRAK1BP1_chr6_78862551_78908102	78905228	T T	TAGACACT others(26): Show TAGACACTTCATTGACCAATATTAATTAATGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0252 a0001c0002t0071g0252	1	344	0.0029	33	c.68 others(44): Show c.6894_*6895insAGACACTTCATTGACCAATATTAATTAATGATA	IRAK1BP1	ENSG00000146243.14	transcript	ENST00000369940.7	protein_coding		2127		chr6	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(26): Show TACACACACACACATATCACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0152 a0002c0001t0002g0152	1	152	0.0066	33	c.109 others(50): Show c.1099-152_1099-151insGTGTGTGTGTGTGTGTGATATGTGTGTG TGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0183 a0001c0001t0021g0183	1	27	0.0370	33	c.21 others(52): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAAAATATATATAT ATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
ISM1_chr20_13216274_13305651	13289659	A A	AAGGAGGA others(26): Show AAGGAGGAGGAGGAGGGGGAGGAGGAGGAAGAGG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	394	0.0025	33	c.787 others(49): Show c.787+984_787+1016dupGGAGGAGGGGGAGGAGGAGGAAGAGGAGG AGGA	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ISOC2_chr19_55447985_55466642	55456117	G G	GCCTGGGT others(26): Show GCCTGGGTCTGAGGGTGGAGGGCTGAGCCTGGAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp2 HG02572.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0047 a0001c0003t0004g0047	2	375	0.0053	33	c.138 others(48): Show c.138+199_138+231dupATCCAGGCTCAGCCCTCCACCCTCAGACCC AGG	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	2/5			chr19	TogoVar
ISOC2_chr19_55447985_55466642	55456189	A A	ATCTGAGG others(26): Show ATCTGAGGGTGGAGGGCTGAGCCTGGATCCTGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(75): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18975.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0006c0007 others(1): Show a0001c0001 a0001c0002 a0006c0007 a0007c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0006c0007t0001 a0007c0006t0001	a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 others(27): Show a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0018 a0001c0001t0003g0084 a0001c0001t0003g0090 a0001c0001t0003g0165 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0038 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0089 a0001c0002t0001g0098 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0112 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0005g0027 a0001c0002t0005g0073 a0006c0007t0001g0088 a0007c0006t0001g0087	78	263	0.2966	33	c.138 others(48): Show c.138+127_138+159dupCCCAGGATCCAGGCTCAGCCCTCCACCCTC AGA	ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding	2/5			chr19	TogoVar
ITGA11_chr15_68291532_68437163	68396906	T T	TTATTATA others(26): Show TTATTATATATTATTTATTATATAATATATAATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0139 a0006c0017t0001g0139	1	240	0.0042	33	c.164 others(50): Show c.164+5979_164+6011dupTATTATATATTATATAATAAATAATATA TAATA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400597	T T	TATATTAT others(26): Show TATATTATAATATATAATATATATTATATAATAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA20129.hp1 HG03209.hp2 NA20129.hp1	a0004 a0006 a0004 a0006	a0004c0065 a0006c0017 a0004c0065 a0006c0017	a0004c0065t0011 a0006c0017t0001 a0004c0065t0011 a0006c0017t0001	a0004c0065t0011g0117 a0006c0017t0001g0139 a0004c0065t0011g0117 a0006c0017t0001g0139	2	240	0.0083	33	c.164 others(50): Show c.164+2288_164+2320dupTTATTATATAATATATATTATATATTAT AATAT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA9_chr3_37447141_37828507	37610483	G G	GTTCTGCT others(26): Show GTTCTGCTATAAATCCTAACAGCTTAAACAATCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0007 a0001c0020t0002g0007	1	166	0.0060	33	c.169 others(54): Show c.1690-18703_1690-18671dupTTCTGCTATAAATCCTAACAGCTT AAACAATCT	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAD_chr16_31388335_31431505	31427922	G G	GCGCCCCG others(26): Show GCGCCCCGCGCGCACCCCCCCCCCCGCAGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02723.hp1 HG02630.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0313 a0001c0001t0001g0210 a0001c0001t0001g0313	2	22	0.0909	33	c.17 others(44): Show c.1794_*1795insCGCCCCGCGCGCACCCCCCCCCCCGCAGCACCC	ITGAD	ENSG00000156886.12	transcript	ENST00000389202.3	protein_coding		1418		chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACGTAT others(26): Show ATACGTATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02738.hp2 HG03491.hp1 others(7): Show HG02132.hp2 HG02738.hp2 HG03491.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 NA18962.hp2 NA20905.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0011 a0002c0002 a0012c0011	a0002c0002t0001 a0012c0011t0001 a0002c0002t0001 a0012c0011t0001	a0002c0002t0001g0021 a0002c0002t0001g0029 a0002c0002t0001g0030 others(7): Show a0002c0002t0001g0021 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0041 a0002c0002t0001g0044 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0169 a0002c0002t0001g0198 a0012c0011t0001g0024	10	117	0.0855	33	c.214 others(50): Show c.2145+245_2145+246insACGTATATATATATATATATATATATAT TTTTT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAL_chr16_30467742_30528185	30499733	A A	ATACGTAT others(26): Show ATACGTATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02683.hp2 HG00621.hp2 HG02683.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0178 a0002c0002t0001g0054 a0001c0001t0001g0178 a0002c0002t0001g0054	2	109	0.0183	33	c.214 others(50): Show c.2145+245_2145+246insACGTATATATATATATATATATATATTT TTTTT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31333578	A A	AAAATAAA others(26): Show AAAATAAAATAAATAAAATAAAATAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02056.hp1 HG02132.hp1 others(9): Show HG00609.hp1 HG02056.hp1 HG02132.hp1 HG02145.hp2 HG02486.hp2 HG02523.hp1 HG03041.hp1 HG03688.hp2 NA18963.hp1 NA18966.hp1 NA18975.hp2 NA18982.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0005 a0001c0002t0002 a0003c0004t0005	a0001c0002t0002g0033 a0001c0002t0002g0049 a0001c0002t0002g0057 others(9): Show a0001c0002t0002g0033 a0001c0002t0002g0049 a0001c0002t0002g0057 a0001c0002t0002g0065 a0001c0002t0002g0071 a0001c0002t0002g0077 a0001c0002t0002g0127 a0001c0002t0002g0169 a0001c0002t0002g0232 a0003c0004t0005g0023 a0003c0004t0005g0088 a0003c0004t0005g0089	12	172	0.0698	33	c.18 others(44): Show c.1871_*1872insAAATAAAATAAATAAAATAAAATAAAATAAAAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		702		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31333583	A A	AAAATAAA others(26): Show AAAATAAATAAAATAAAATAAAATAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02723.hp1 others(3): Show HG02451.hp1 HG02615.hp1 HG02723.hp1 HG03225.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0008 a0001c0001t0002 a0001c0013t0008	a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 others(3): Show a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0013t0008g0173	6	103	0.0583	33	c.18 others(44): Show c.1876_*1877insAAATAAATAAAATAAAATAAAATAAAATAAAAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		707		chr16	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(26): Show TCCCTCTCCCTCTCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00621.hp1 others(49): Show HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01358.hp2 HG01978.hp1 HG01981.hp2 HG02145.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG03704.hp2 HG03834.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18951.hp1 NA18957.hp1 NA18959.hp2 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA19002.hp1 NA19007.hp1 NA19057.hp1 NA19063.hp2 NA19065.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0001t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0214 a0001c0001t0001g0263 others(48): Show a0001c0001t0001g0011 a0001c0001t0001g0214 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0003g0296 a0001c0001t0003g0317 a0001c0001t0003g0319 a0001c0003t0001g0274	52	209	0.2488	33	c.254 others(50): Show c.254+6320_254+6321insGAGAGGGGAGAGGGGAGAGGGAGAGGGA GAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19070.hp1 NA18948.hp2 NA19070.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0227 a0001c0006t0001g0228 a0001c0006t0001g0227 a0001c0006t0001g0228	2	4	0.5000	33	c.101 others(52): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7701183	G G	GCTGTTGT others(26): Show GCTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA19240.hp2 NA18990.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0023 a0003c0004 a0003c0023	a0003c0004t0001 a0003c0023t0001 a0003c0004t0001 a0003c0023t0001	a0003c0004t0001g0353 a0003c0023t0001g0362 a0003c0004t0001g0353 a0003c0023t0001g0362	2	366	0.0055	33	c.-22 others(44): Show c.-2252_-2251insCTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding		2132		chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(26): Show TTTCTATATTATATTCTATATTTTCTATATTATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	282	0.0035	33	c.195 others(50): Show c.1958-923_1958-922insTTTCTATATTATATTCTATATTATATTC TATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7565009	C C	CATATATA others(26): Show CATATATACATATATACATACATAGACTGTATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0033 a0008c0014t0033	a0008c0014t0033g0190 a0008c0014t0033g0190	1	339	0.0029	33	c.252 others(51): Show c.2527+988_2527+1020dupATATACAGTCTATGTATGTATATATGT ATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	13/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593343	A A	ACTGCAGC others(26): Show ACTGCAGCCACCCAGCCCCACTCACCCCTGCAGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp2 HG01192.hp1 others(2): Show HG00741.hp1 HG01081.hp2 HG01192.hp1 HG02258.hp2 HG02630.hp2	a0002 a0015 a0027 a0002 a0015 a0027	a0002c0004 a0002c0021 a0015c0019 others(1): Show a0002c0004 a0002c0021 a0015c0019 a0027c0052	a0002c0004t0001 a0002c0021t0001 a0015c0019t0020 others(1): Show a0002c0004t0001 a0002c0021t0001 a0015c0019t0020 a0027c0052t0060	a0002c0004t0001g0159 a0002c0004t0001g0160 a0002c0021t0001g0214 others(2): Show a0002c0004t0001g0159 a0002c0004t0001g0160 a0002c0021t0001g0214 a0015c0019t0020g0101 a0027c0052t0060g0014	5	327	0.0153	33	c.940 others(50): Show c.940-7275_940-7274insGCTGCAGGGGTGAGTGGGGCTGGGTGGC TGCAG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593388	C C	CAGCCCCA others(26): Show CAGCCCCACTCACCCCTGCAGCCTGCAGCCACCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	340	0.0029	33	c.940 others(50): Show c.940-7320_940-7319insTGGTGGCTGCAGGCTGCAGGGGTGAGTG GGGCT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7593409	C C	CCTGCAGC others(26): Show CCTGCAGCCACCCAGCCCCACTCACCCCTGTAGA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18947.hp2 NA18954.hp2 HG01358.hp1 NA18947.hp2 NA18954.hp2	a0003 a0011 a0020 a0003 a0011 a0020	a0003c0002 a0011c0028 a0020c0029 a0003c0002 a0011c0028 a0020c0029	a0003c0002t0001 a0011c0028t0003 a0020c0029t0001 a0003c0002t0001 a0011c0028t0003 a0020c0029t0001	a0003c0002t0001g0169 a0011c0028t0003g0255 a0020c0029t0001g0248 a0003c0002t0001g0169 a0011c0028t0003g0255 a0020c0029t0001g0248	3	194	0.0155	33	c.940 others(50): Show c.940-7341_940-7340insTCTACAGGGGTGAGTGGGGCTGGGTGGC TGCAG	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITK_chr5_157175840_157260185	157250219	T T	TCCCTCTC others(26): Show TCCCTCTCCTCATCCCCAAACCACTGGCAACTAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	346	0.0029	33	c.179 others(52): Show c.1791+1213_1791+1245dupCCCTCTCCTCATCCCCAAACCACTGG CAACTAC	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITPK1_chr14_92931914_93120925	92948899	T T	TGAGGGAC others(26): Show TGAGGGACCCACGCCTGGATATCACCCACGCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp2 others(72): Show HG00280.hp1 HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18945.hp1 NA18948.hp2 NA18962.hp1 NA18978.hp1 NA18983.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(36): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0038 a0001c0001t0039 a0001c0001t0047 a0001c0001t0051 a0001c0001t0054 a0001c0001t0056 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0032 a0001c0002t0037 a0001c0002t0059 a0001c0002t0060 a0001c0002t0088 a0001c0003t0014 a0001c0003t0073 a0001c0007t0013 a0002c0005t0015	a0001c0001t0002g0032 a0001c0001t0002g0109 a0001c0001t0004g0011 others(71): Show a0001c0001t0002g0032 a0001c0001t0002g0109 a0001c0001t0004g0011 a0001c0001t0008g0042 a0001c0001t0010g0001 a0001c0001t0010g0013 a0001c0001t0011g0012 a0001c0001t0011g0045 a0001c0001t0011g0060 a0001c0001t0011g0078 a0001c0001t0011g0081 a0001c0001t0012g0039 a0001c0001t0012g0105 a0001c0001t0012g0113 a0001c0001t0012g0176 a0001c0001t0012g0242 a0001c0001t0013g0020 a0001c0001t0013g0114 a0001c0001t0013g0116 a0001c0001t0014g0068 a0001c0001t0014g0110 a0001c0001t0014g0174 a0001c0001t0017g0175 a0001c0001t0017g0177 a0001c0001t0017g0178 a0001c0001t0017g0179 a0001c0001t0021g0106 a0001c0001t0021g0108 a0001c0001t0021g0142 a0001c0001t0024g0005 a0001c0001t0025g0082 a0001c0001t0025g0122 a0001c0001t0026g0157 a0001c0001t0026g0173 a0001c0001t0038g0096 a0001c0001t0039g0112 a0001c0001t0047g0087 a0001c0001t0051g0150 a0001c0001t0054g0104 a0001c0001t0056g0182 a0001c0001t0071g0238 a0001c0001t0074g0162 a0001c0001t0075g0180 a0001c0001t0080g0021 a0001c0001t0089g0028 a0001c0001t0092g0155 a0001c0001t0093g0172 a0001c0002t0001g0031 a0001c0002t0001g0195 a0001c0002t0002g0149 a0001c0002t0003g0030 a0001c0002t0003g0062 a0001c0002t0003g0077 a0001c0002t0003g0097 a0001c0002t0003g0118 a0001c0002t0003g0123 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0133 a0001c0002t0003g0137 a0001c0002t0003g0188 a0001c0002t0003g0236 a0001c0002t0015g0065 a0001c0002t0015g0201 a0001c0002t0015g0208 a0001c0002t0032g0071 a0001c0002t0037g0090 a0001c0002t0059g0148 a0001c0002t0060g0029 a0001c0002t0088g0154 a0001c0003t0014g0167 a0001c0003t0073g0168 a0001c0007t0013g0019 a0002c0005t0015g0018	75	242	0.3099	33	c.739 others(50): Show c.739-2407_739-2406insGGAGCGTGGGTGATATCCAGGCGTGGGT CCCTC	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	9/10			chr14	TogoVar
JAK1_chr1_64828229_64971549	64863291	T T	TATCCAGG others(26): Show TATCCAGGATGCAGCATATGACACGGGGCCTAAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	324	0.0031	33	c.117 others(52): Show c.1176+1495_1176+1496insTTTAGGCCCCGTGTCATATGCTGCAT CCTGGAT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	8/24			chr1	TogoVar

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