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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IRAK1_chrX_154005507_154024902	154019841	GGGGCCTC others(19): Show GGGGCCTCTCAGGGCCGCGGCGGGCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0025 a0002c0002t0005g0025	1	280	0.0036	-26	c.-55 others(33): Show c.-55_-30delGCGCCCGCCGCGGCCCTGAGAGGCCC		IRAK1	ENSG00000184216.15	transcript	ENST00000369980.8	protein_coding	1/14				30		chrX	TogoVar
IRS2_chr13_109747695_109791583	109788557	TTGTGTGA others(19): Show TTGTGTGATTGTGTGTGTATAGGTATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0175 a0001c0005t0010g0175	1	398	0.0025	-26	c.-25 others(37): Show c.-2530_-2505delCATACCTATACACACACAATCACACA		IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding					1975		chr13	TogoVar
IRX2_chr5_2741165_2756677	2748551	GACGTGTA others(19): Show GACGTGTAGTAGAGGGGGCGGCCCAGC	G G	frameshift_variant frameshift_variant	HIGH	NA18985.hp2 NA18985.hp2	a0000 a0000	a0000c0012 a0000c0012	a0000c0012t0001 a0000c0012t0001	a0000c0012t0001g0079 a0000c0012t0001g0079	1	436	0.0023	-26	c.113 others(35): Show c.1131_1156delGCTGGGCCGCCCCCTCTACTACACGT	p.Leu others(5): Show p.Leu378fs	IRX2	ENSG00000170561.13	transcript	ENST00000302057.6	protein_coding	3/4	1420/3079	1131/1416	377/471			chr5	TogoVar
ISL1_chr5_51378448_51399730	51390632	CTTTCTTT others(19): Show CTTTCTTTTTCTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0149 a0001c0002t0002g0149	1	342	0.0029	-26	c.766 others(41): Show c.766-638_766-613delCTTTTTCTTTTTTTTTTTTTTTTTTT		ISL1	ENSG00000016082.15	transcript	ENST00000230658.12	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
ISLR2_chr15_74125586_74141802	74126896	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	398	0.0025	-26	c.-38 others(37): Show c.-3843_-3818delTGTGTGTGTGTGTGTGTGTGTGTGTG		ISLR2	ENSG00000167178.17	transcript	ENST00000453268.3	protein_coding					3689		chr15	TogoVar
ISM1_chr20_13216274_13305651	13268347	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	396	0.0025	-26	c.139 others(43): Show c.139-2125_139-2100delTCTCTCTCTCTCTCTCTCTCTCTCTC		ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
ITCH_chr20_34358273_34516773	34471673	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	294	0.0034	-26	c.156 others(43): Show c.1569+175_1569+200delGTGTGTGTGTGTGTGTGTGTGTGTGT		ITCH	ENSG00000078747.17	transcript	ENST00000374864.10	protein_coding	16/24					INFO_REALIGN_3_PRIME	chr20	TogoVar
ITGA10_chr1_145886208_145915050	145903002	GACACACA others(19): Show GACACACACACACACACACACATACAC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0100 a0002c0003t0002g0100	1	390	0.0026	-26	c.759 others(39): Show c.759-67_759-42delGTGTATGTGTGTGTGTGTGTGTGTGT		ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	7/29						chr1	TogoVar
ITGA11_chr15_68291532_68437163	68302055	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0008 a0008	a0008c0082 a0008c0082	a0008c0082t0042 a0008c0082t0042	a0008c0082t0042g0123 a0008c0082t0042g0123	1	242	0.0041	-26	c.97 others(36): Show c.978_*1003delACACACACACACACACACACACACAC		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	30/30				978		chr15	TogoVar
ITGA11_chr15_68291532_68437163	68397264	TAAAAATA others(19): Show TAAAAATATTAAATTAAAAATTTTAAA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp1 HG02970.hp1 HG02895.hp2 HG02965.hp1 HG02970.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0078 a0004c0077 a0008c0082 a0001c0078 a0004c0077 a0008c0082	a0001c0078t0060 a0004c0077t0099 a0008c0082t0042 a0001c0078t0060 a0004c0077t0099 a0008c0082t0042	a0001c0078t0060g0077 a0004c0077t0099g0223 a0008c0082t0042g0123 a0001c0078t0060g0077 a0004c0077t0099g0223 a0008c0082t0042g0123	3	242	0.0124	-26	c.164 others(43): Show c.164+5628_164+5653delTTTAAAATTTTTAATTTAATATTTTT		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29						chr15	TogoVar
ITGA2B_chr17_44367181_44394649	44368126	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	354	0.0028	-26	c.42 others(37): Show c.4212_*4237delAAAAAATATATATATATATATATATA		ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding					4054		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368128	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0021	1	354	0.0028	-26	c.42 others(37): Show c.4210_*4235delAAAAAAAATATATATATATATATATA		ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding					4052		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368130	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01192.hp1 others(3): Show HG00738.hp1 HG01175.hp2 HG01192.hp1 HG02559.hp2 NA19003.hp1 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0009 a0002c0002t0001g0023 a0002c0002t0001g0105 others(3): Show a0002c0002t0001g0009 a0002c0002t0001g0023 a0002c0002t0001g0105 a0002c0002t0001g0129 a0002c0002t0001g0159 a0002c0003t0001g0149	6	354	0.0170	-26	c.42 others(37): Show c.4208_*4233delAAAAAAAAAATATATATATATATATA		ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding					4050		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368132	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02040.hp2 HG02129.hp1 others(2): Show HG01255.hp2 HG02040.hp2 HG02129.hp1 HG03139.hp2 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0148 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0148	5	354	0.0141	-26	c.42 others(37): Show c.4206_*4231delAAAAAAAAAAAATATATATATATATA		ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding					4048		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368134	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18965.hp1 NA18952.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0003 a0002c0002t0002g0146 a0002c0002t0001g0003 a0002c0002t0002g0146	2	354	0.0057	-26	c.42 others(37): Show c.4204_*4229delAAAAAAAAAAAAAATATATATATATA		ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding					4046		chr17	TogoVar
ITGA8_chr10_15508954_15724922	15561209	CTATATAT others(19): Show CTATATATATATATATATATATATATG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19043.hp1 HG01884.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0114 a0001c0007t0003g0128 a0001c0001t0003g0114 a0001c0007t0003g0128	2	220	0.0091	-26	c.263 others(45): Show c.2638-3033_2638-3008delCATATATATATATATATATATATATA		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	25/29						chr10	TogoVar
ITGA8_chr10_15508954_15724922	15644433	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00642.hp1 others(35): Show HG00140.hp1 HG00438.hp2 HG00642.hp1 HG01070.hp2 HG01099.hp1 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01993.hp1 HG02040.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03492.hp2 HG03579.hp1 HG03942.hp2 HG06807.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18968.hp2 NA18977.hp1 NA19030.hp1 NA19054.hp1 NA19056.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0015 a0017	a0001c0001 a0001c0014 a0002c0002 others(3): Show a0001c0001 a0001c0014 a0002c0002 a0004c0013 a0015c0028 a0017c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0026 a0001c0001t0036 a0001c0014t0003 a0002c0002t0005 a0004c0013t0014 a0015c0028t0006 a0017c0026t0009	a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 others(35): Show a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0002g0066 a0001c0001t0002g0109 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0181 a0001c0001t0003g0103 a0001c0001t0003g0139 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0167 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0210 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0186 a0001c0001t0006g0001 a0001c0001t0006g0031 a0001c0001t0008g0174 a0001c0001t0008g0202 a0001c0001t0026g0003 a0001c0001t0036g0074 a0001c0014t0003g0159 a0002c0002t0005g0118 a0002c0002t0005g0140 a0002c0002t0005g0192 a0004c0013t0014g0033 a0015c0028t0006g0017 a0017c0026t0009g0088	38	220	0.1727	-26	c.120 others(43): Show c.1208-238_1208-213delATATATATATATATATATATATATAT		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	12/29						chr10	TogoVar
ITGA8_chr10_15508954_15724922	15644467	TATATATA others(19): Show TATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02258.hp2 HG02615.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0036 a0001c0008t0010g0038 a0001c0008t0010g0036 a0001c0008t0010g0038	2	220	0.0091	-26	c.120 others(43): Show c.1208-272_1208-247delCTATATATATATATATATATATATAT		ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	12/29						chr10	TogoVar
ITGA9_chr3_37447141_37828507	37512013	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0087 a0002c0002t0010g0087	1	168	0.0060	-26	c.898 others(43): Show c.898-1749_898-1724delTTTTCTTTTCTTTTCTTTCTTTCTTT		ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27						chr3	TogoVar
ITGA9_chr3_37447141_37828507	37512179	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0140 a0001c0006t0006g0140	1	168	0.0060	-26	c.898 others(43): Show c.898-1580_898-1555delTCTTTTCTTTTCTTTTCTTTTCTTTT		ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	8/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA9_chr3_37447141_37828507	37530717	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp1 HG02723.hp1 HG03540.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0005 a0002c0007t0002 a0002c0007t0005	a0002c0007t0002g0094 a0002c0007t0005g0095 a0002c0007t0002g0094 a0002c0007t0005g0095	2	168	0.0119	-26	c.137 others(45): Show c.1374-2570_1374-2545delTTTTTTTTTTTTTTTTTTTTTTTTTT		ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	13/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAM_chr16_31254975_31337877	31272447	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0125 a0002c0003t0003g0127 a0002c0003t0003g0125 a0002c0003t0003g0127	2	244	0.0082	-26	c.704 others(41): Show c.704+457_704+482delATATATATATATATATTTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31272449	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02486.hp1 HG01106.hp1 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0124 a0002c0003t0003g0126 a0002c0003t0003g0124 a0002c0003t0003g0126	2	244	0.0082	-26	c.704 others(41): Show c.704+459_704+484delATATATATATATATTTTTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31272451	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02970.hp1 others(1): Show HG02055.hp2 HG02572.hp1 HG02970.hp1 NA19240.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0006 a0002c0003 a0004c0006	a0002c0003t0003 a0004c0006t0003 a0002c0003t0003 a0004c0006t0003	a0002c0003t0003g0016 a0002c0003t0003g0122 a0004c0006t0003g0010 others(1): Show a0002c0003t0003g0016 a0002c0003t0003g0122 a0004c0006t0003g0010 a0004c0006t0003g0013	4	244	0.0164	-26	c.704 others(41): Show c.704+461_704+486delATATATATATATTTTTTTTTTTTTTT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	7/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302972	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0097 a0003c0004t0005g0097	1	244	0.0041	-26	c.170 others(45): Show c.1707+5028_1707+5053delTTCTTTCTTTCTTTCTTTTTCTTTCT		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB5_chr3_124756948_124892365	124886749	GGCGGGGC others(19): Show GGCGGGGCTGCGCGCGGGGAGCGCCCC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0011 a0001c0002t0005g0011	1	352	0.0028	-26	c.70+ others(39): Show c.70+156_70+181delGGGGCGCTCCCCGCGCGCAGCCCCGC		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	1/14						chr3	TogoVar
ITIH2_chr10_7698316_7754520	7710994	CATGTGCC others(19): Show CATGTGCCATGGTGGTTTGCTGCACCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp1 HG01256.hp2 others(8): Show HG01081.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01943.hp2 HG01975.hp1 HG02132.hp2 HG03710.hp1 HG04204.hp2 NA18990.hp2 NA19082.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0360 a0003c0004t0001g0361 a0003c0004t0001g0362 others(8): Show a0003c0004t0001g0360 a0003c0004t0001g0361 a0003c0004t0001g0362 a0003c0004t0001g0363 a0003c0004t0001g0364 a0003c0004t0001g0365 a0003c0004t0001g0366 a0003c0004t0001g0367 a0003c0004t0001g0368 a0003c0004t0001g0369 a0003c0004t0001g0370	11	380	0.0290	-26	c.362 others(43): Show c.362+1806_362+1831delGTGCCATGGTGGTTTGCTGCACCTAT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737652	ATTATATT others(19): Show ATTATATTCTATATTATATTCTATATT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00621.hp1 others(4): Show HG00423.hp2 HG00609.hp1 HG00621.hp1 HG02027.hp1 HG02071.hp1 NA18998.hp2 NA19088.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0039 a0002c0003t0001g0183 a0002c0003t0001g0185 others(4): Show a0002c0003t0001g0039 a0002c0003t0001g0183 a0002c0003t0001g0185 a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189	7	380	0.0184	-26	c.195 others(43): Show c.1958-966_1958-941delATATTCTATATTATATTCTATATTTT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737660	CTATATTA others(19): Show CTATATTATATTCTATATTTTCTATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01069.hp2 others(11): Show HG00140.hp2 HG00639.hp2 HG01069.hp2 HG01074.hp1 HG02258.hp2 HG02572.hp1 HG02698.hp1 HG02922.hp2 HG03490.hp1 HG03927.hp1 NA18979.hp1 NA19060.hp2 NA19064.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0060 others(11): Show a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0001g0082 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0356	14	380	0.0368	-26	c.195 others(43): Show c.1958-954_1958-929delATATTCTATATTTTCTATATTATATT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH3_chr3_52789796_52813797	52803293	TATTTATT others(19): Show TATTTATTTATTTATTTTATTTTATTA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03942.hp1 HG03017.hp1 HG03942.hp1	a0004 a0004	a0004c0008 a0004c0018 a0004c0008 a0004c0018	a0004c0008t0001 a0004c0018t0001 a0004c0008t0001 a0004c0018t0001	a0004c0008t0001g0057 a0004c0018t0001g0043 a0004c0008t0001g0057 a0004c0018t0001g0043	2	414	0.0048	-26	c.170 others(43): Show c.1709+488_1709+513delATTTATTTATTTATTTTATTTTATTA		ITIH3	ENSG00000162267.14	transcript	ENST00000449956.3	protein_coding	13/21						chr3	TogoVar
ITIH5_chr10_7554270_7671966	7624889	GTATATAT others(19): Show GTATATATATACATACATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19005.hp2 NA19068.hp1 HG02015.hp1 NA19005.hp2 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0003c0002t0046 a0001c0001t0001 a0003c0002t0001 a0003c0002t0046	a0001c0001t0001g0274 a0003c0002t0001g0273 a0003c0002t0046g0272 a0001c0001t0001g0274 a0003c0002t0001g0273 a0003c0002t0046g0272	3	342	0.0088	-26	c.653 others(43): Show c.653-7633_653-7608delTATATATATATGTATGTATATATATA		ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13						chr10	TogoVar
ITLN2_chr1_160940025_160959809	160949137	TTTGACGT others(19): Show TTTGACGTGCACATACATAAACATCTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0112 a0002c0006t0001g0112	1	480	0.0021	-26	c.721 others(41): Show c.721+883_721+908delGAGATGTTTATGTATGTGCACGTCAA		ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding	6/7						chr1	TogoVar
ITM2B_chr13_48228206_48275357	48229664	CTCTCTCT others(19): Show CTCTCTCTCTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02965.hp1 HG01243.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0005 a0001c0001t0016g0005	2	338	0.0059	-26	c.-36 others(37): Show c.-3696_-3671delTCTCTCTCTTTTTTTTTTTTTTTTTT		ITM2B	ENSG00000136156.15	transcript	ENST00000647800.2	protein_coding					3541		chr13	TogoVar
ITPK1_chr14_92931914_93120925	93000448	TTTTTATT others(19): Show TTTTTATTCCCATTTTATAAATAAAGA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	243	0.0041	-26	c.247 others(43): Show c.247-6477_247-6452delTCTTTATTTATAAAATGGGAATAAAA		ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	4/10						chr14	TogoVar
ITPR1_chr3_4488348_4852506	4609051	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02280.hp1 others(4): Show HG01884.hp1 HG02055.hp1 HG02280.hp1 HG02965.hp2 HG03225.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0016 a0001c0017 a0001c0019 others(4): Show a0001c0016 a0001c0017 a0001c0019 a0001c0050 a0001c0070 a0001c0087 a0001c0095	a0001c0016t0006 a0001c0017t0007 a0001c0019t0014 others(4): Show a0001c0016t0006 a0001c0017t0007 a0001c0019t0014 a0001c0050t0004 a0001c0070t0007 a0001c0087t0002 a0001c0095t0001	a0001c0016t0006g0023 a0001c0017t0007g0173 a0001c0019t0014g0163 others(4): Show a0001c0016t0006g0023 a0001c0017t0007g0173 a0001c0019t0014g0163 a0001c0050t0004g0134 a0001c0070t0007g0165 a0001c0087t0002g0170 a0001c0095t0001g0027	7	176	0.0398	-26	c.164 others(45): Show c.164-18698_164-18673delTATATATATATATATATATATATATA		ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4609065	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01257.hp2 others(5): Show HG01175.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp1 HG01517.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0011 a0001c0014 a0001c0056 a0001c0100	a0001c0001t0005 a0001c0002t0001 a0001c0009t0001 others(4): Show a0001c0001t0005 a0001c0002t0001 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0001c0056t0003 a0001c0100t0006	a0001c0001t0005g0089 a0001c0002t0001g0162 a0001c0009t0001g0057 others(5): Show a0001c0001t0005g0089 a0001c0002t0001g0162 a0001c0009t0001g0057 a0001c0011t0001g0042 a0001c0011t0001g0145 a0001c0014t0001g0064 a0001c0056t0003g0007 a0001c0100t0006g0079	8	176	0.0455	-26	c.164 others(45): Show c.164-18696_164-18671delTATATATATATATATATATATATACA		ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61					INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26461621	CATATAAA others(19): Show CATATAAATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03516.hp2 NA20300.hp2 HG00738.hp2 HG03516.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0009 a0002c0010 a0001c0008 a0002c0009 a0002c0010	a0001c0008t0037 a0002c0009t0001 a0002c0010t0016 a0001c0008t0037 a0002c0009t0001 a0002c0010t0016	a0001c0008t0037g0031 a0002c0009t0001g0027 a0002c0010t0016g0028 a0001c0008t0037g0031 a0002c0009t0001g0027 a0002c0010t0016g0028	3	142	0.0211	-26	c.634 others(47): Show c.6342+13649_6342+13674delATATATATATATATATATATTTAT AT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	45/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26589809	AAAATAAA others(19): Show AAAATAAATAAATAAATAAATAAACAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0008 a0001c0011t0001g0008	1	142	0.0070	-26	c.438 others(45): Show c.4380+5630_4380+5655delATGTTTATTTATTTATTTATTTATTT		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	32/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26831773	CTACATAA others(19): Show CTACATAAAATATATAAATATATATTA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG02922.hp2 others(7): Show HG00642.hp2 HG01192.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 NA18906.hp1 NA18906.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0008 a0001c0015 a0001c0016 others(5): Show a0001c0008 a0001c0015 a0001c0016 a0001c0031 a0001c0051 a0002c0009 a0002c0017 a0011c0067	a0001c0008t0043 a0001c0015t0004 a0001c0015t0044 others(6): Show a0001c0008t0043 a0001c0015t0004 a0001c0015t0044 a0001c0016t0042 a0001c0031t0009 a0001c0051t0002 a0002c0009t0041 a0002c0017t0018 a0011c0067t0003	a0001c0008t0043g0111 a0001c0015t0004g0006 a0001c0015t0044g0106 others(7): Show a0001c0008t0043g0111 a0001c0015t0004g0006 a0001c0015t0044g0106 a0001c0016t0042g0107 a0001c0031t0009g0003 a0001c0051t0002g0005 a0002c0009t0041g0110 a0002c0017t0018g0108 a0002c0017t0018g0109 a0011c0067t0003g0007	10	142	0.0704	-26	c.92+ others(39): Show c.92+891_92+916delTAATATATATTTATATATTTTATGTA		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56						chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31599607	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0010 a0010	a0010c0047 a0010c0047	a0010c0047t0005 a0010c0047t0005	a0010c0047t0005g0084 a0010c0047t0005g0084	1	312	0.0032	-26	c.122 others(47): Show c.1228+16418_1228+16443delCTTTCTTTCTTTCTTTCTTTCTTT CT		ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL1_chr2_96320317_96333353	96329149	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA19088.hp1 NA18949.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	364	0.0055	-26	c.85 others(35): Show c.851_*876delTATATATATATATATATATATATATA		ITPRIPL1	ENSG00000198885.10	transcript	ENST00000439118.3	protein_coding					797		chr2	TogoVar
ITPRIP_chr10_104304700_104343465	104306050	TGTGTGCG others(19): Show TGTGTGCGCGCGCGCGCGCGCGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG02976.hp1 HG03139.hp2 others(1): Show HG01123.hp1 HG02976.hp1 HG03139.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0028 a0001c0001t0002 a0001c0001t0006 a0001c0001t0028	a0001c0001t0002g0003 a0001c0001t0002g0048 a0001c0001t0006g0029 others(1): Show a0001c0001t0002g0003 a0001c0001t0002g0048 a0001c0001t0006g0029 a0001c0001t0028g0096	4	324	0.0124	-26	c.83 others(37): Show c.8332_*8357delGCGCACGCGCGCGCGCGCGCGCACAC		ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding					3649		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33690789	ACATATAT others(19): Show ACATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0118 a0001c0002t0023g0118	1	242	0.0041	-26	c.-32 others(45): Show c.-32-28007_-32-27982delCATATATATATATATATATATATATG		ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39						chr21	TogoVar
ITSN1_chr21_33637501_33904861	33876121	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0078 a0001c0003t0009g0078	1	242	0.0041	-26	c.434 others(43): Show c.4341+602_4341+627delTTCTTTCTTTCTTTCTTTCTTTCTTT		ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39					INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24223850	GAAAGAAA others(19): Show GAAAGAAAGAAAGGAAAGAAAGAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(114): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01516.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp1 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18969.hp2 NA18972.hp2 NA18980.hp2 NA18981.hp1 NA18989.hp1 NA18993.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(5): Show a0001 a0002 a0005 a0006 a0011 a0012 a0013 a0014	a0001c0001 a0001c0018 a0001c0021 others(9): Show a0001c0001 a0001c0018 a0001c0021 a0001c0022 a0002c0007 a0002c0010 a0005c0006 a0006c0008 a0011c0011 a0012c0023 a0013c0017 a0014c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0018t0001 a0001c0021t0001 a0001c0022t0001 a0002c0007t0001 a0002c0010t0005 a0005c0006t0001 a0006c0008t0001 a0011c0011t0005 a0012c0023t0001 a0013c0017t0001 a0014c0019t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(114): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0007g0003 a0001c0001t0008g0154 a0001c0018t0001g0199 a0001c0021t0001g0121 a0001c0022t0001g0112 a0002c0007t0001g0036 a0002c0007t0001g0037 a0002c0010t0005g0222 a0005c0006t0001g0202 a0005c0006t0001g0203 a0005c0006t0001g0204 a0006c0008t0001g0102 a0006c0008t0001g0104 a0011c0011t0005g0223 a0012c0023t0001g0115 a0013c0017t0001g0207 a0014c0019t0001g0153	117	224	0.5223	-26	c.357 others(45): Show c.3578-2810_3578-2785delTTTTTCTTTCTTTCCTTTCTTTCTTT		ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	29/39						chr2	TogoVar
IWS1_chr2_127475812_127531489	127477594	AAGGCAAT others(19): Show AAGGCAATCTAAAGAATGAAAGAGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0128 a0001c0010t0001g0128	1	338	0.0030	-26	c.34 others(37): Show c.3424_*3449delACTCTCTTTCATTCTTTAGATTGCCT		IWS1	ENSG00000163166.15	transcript	ENST00000295321.9	protein_coding					3217		chr2	TogoVar
IYD_chr6_150364012_150410969	150367963	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	414	0.0024	-26	c.-10 others(37): Show c.-1068_-1043delTCTTTCTTTCTTTCTTTCTTTCTTTC		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding					1048		chr6	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	364	0.0028	-26	c.-25 others(45): Show c.-25-16856_-25-16831delTTTTTTTTTTTTTTTTTTTTTTTTTT		JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5101284	ACAGCAGC others(19): Show ACAGCAGCCTAAGATCCACCCGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	364	0.0028	-26	c.305 others(47): Show c.3059+10383_3059+10408delAAGATCCACCCGTGAGGCAGCAGC CT		JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	22/24					INFO_REALIGN_3_PRIME	chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6098668	GAGAGAAA others(19): Show GAGAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03486.hp1 HG02647.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0009 a0001c0003t0001g0152 a0001c0002t0001g0009 a0001c0003t0001g0152	2	233	0.0086	-26	c.624 others(43): Show c.624+6779_624+6804delTTCTTTCTTTCTTTCTTTCTTTCTCT		JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	3/20						chr4	TogoVar

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