Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITIH2_chr10_7698316_7754520	7737825	C C	CTATATTA others(17): Show CTATATTATATTCTATATAATATTA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18975.hp2 NA19091.hp1 NA18964.hp1 NA18975.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0231	3	380	0.0079	24	c.195 others(41): Show c.1958-778_1958-777insATATTATATATTATATTCTATATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TATATTAT others(17): Show TATATTATATATTATATTCTATAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG01256.hp1 others(29): Show HG00408.hp1 HG01074.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02074.hp2 HG02165.hp1 HG02523.hp2 HG02809.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18956.hp2 NA18961.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18994.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 a0003c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0057 others(29): Show a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0170 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0002t0001g0159 a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0014t0001g0127 a0003c0004t0001g0364 a0003c0004t0001g0365 a0003c0004t0001g0368	32	380	0.0842	24	c.195 others(41): Show c.1958-422_1958-399dupAAATATTATATATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TATATTAT others(17): Show TATATTATATATTATATTCTATATA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	380	0.0026	24	c.195 others(41): Show c.1958-423_1958-422insTAATATTATATATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738177	A A	ATATTATA others(17): Show ATATTATATATTATATTCTATAAAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	380	0.0026	24	c.195 others(41): Show c.1958-421_1958-420insTTATTATATATTATATTCTATAAA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738199	A A	AAATATTA others(17): Show AAATATTATATATTATATTCTATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03041.hp2 HG03098.hp1 HG00140.hp1 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0115 a0001c0001t0001g0174 a0001c0001t0001g0012 a0001c0001t0001g0115 a0001c0001t0001g0174	3	380	0.0079	24	c.195 others(41): Show c.1958-329_1958-306dupATATAATATTATATATTATATTCT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738209	T T	TATTATAT others(17): Show TATTATATTCTATAAAATATTATAC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	380	0.0026	24	c.195 others(41): Show c.1958-399_1958-398insAAATATTATACATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7597044	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	342	0.0029	24	c.940 others(43): Show c.940-10976_940-10975insTTTTTTTTTTTTTTTTTTTTTTTT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITIH5_chr10_7554270_7671966	7644941	T T	TATATATA others(17): Show TATATATATCACATATATATATCAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG04228.hp1 HG02717.hp2 HG04228.hp1	a0000 a0004 a0000 a0004	a0000c0014 a0004c0008 a0000c0014 a0004c0008	a0000c0014t0036 a0004c0008t0001 a0000c0014t0036 a0004c0008t0001	a0000c0014t0036g0211 a0004c0008t0001g0249 a0000c0014t0036g0211 a0004c0008t0001g0249	2	342	0.0059	24	c.136 others(41): Show c.136-2852_136-2851insGTGATATATATATGTGATATATAT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	2/13			chr10	TogoVar
ITK_chr5_157175840_157260185	157233932	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03688.hp1 NA18986.hp2 others(1): Show HG01496.hp2 HG03688.hp1 NA18986.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0246 a0001c0001t0002g0131 a0001c0001t0002g0179 others(1): Show a0001c0001t0001g0246 a0001c0001t0002g0131 a0001c0001t0002g0179 a0001c0001t0002g0187	4	348	0.0115	24	c.768 others(41): Show c.768+1547_768+1570dupATATATATATATATATATATATAT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITLN2_chr1_160940025_160959809	160942871	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0126 a0005c0004t0001g0126	1	480	0.0021	24	c.22 others(35): Show c.2268_*2269insTTTTTTTTTTTTTTTTTTTTTTTT	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		2153		chr1	TogoVar
ITPA_chr20_3204498_3228860	3207696	A A	AAACAACA others(17): Show AAACAACAACAACAACAACAACAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	414	0.0024	24	c.-18 others(35): Show c.-1856_-1855insAACAACAACAACAACAACAACAAC	ITPA	ENSG00000125877.13	transcript	ENST00000380113.8	protein_coding		1801		chr20	TogoVar
ITPKB_chr1_226626690_226744282	226627004	G G	GACCGAAT others(17): Show GACCGAATGTTTGTGCCCGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01081.hp2 others(47): Show HG00280.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02630.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp2 HG03579.hp2 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18950.hp1 NA18952.hp2 NA18964.hp1 NA19007.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19088.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0016 a0020	a0001c0001 a0001c0026 a0002c0002 others(9): Show a0001c0001 a0001c0026 a0002c0002 a0003c0003 a0003c0013 a0003c0024 a0004c0004 a0005c0005 a0005c0010 a0006c0006 a0016c0022 a0020c0016	a0001c0001t0001 a0001c0001t0013 a0001c0001t0025 others(22): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0025 a0001c0001t0046 a0001c0001t0054 a0001c0026t0038 a0002c0002t0001 a0002c0002t0013 a0003c0003t0013 a0003c0003t0025 a0003c0013t0001 a0003c0024t0022 a0004c0004t0001 a0004c0004t0012 a0004c0004t0021 a0005c0005t0008 a0005c0005t0057 a0005c0005t0058 a0005c0005t0059 a0005c0005t0060 a0005c0010t0008 a0006c0006t0010 a0006c0006t0027 a0016c0022t0001 a0020c0016t0010	a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0253 others(46): Show a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0013g0277 a0001c0001t0013g0278 a0001c0001t0025g0282 a0001c0001t0046g0258 a0001c0001t0054g0273 a0001c0026t0038g0247 a0002c0002t0001g0104 a0002c0002t0001g0114 a0002c0002t0013g0090 a0003c0003t0013g0145 a0003c0003t0013g0192 a0003c0003t0025g0204 a0003c0013t0001g0152 a0003c0013t0001g0158 a0003c0024t0022g0007 a0004c0004t0001g0132 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0012g0137 a0004c0004t0012g0138 a0004c0004t0021g0033 a0005c0005t0008g0333 a0005c0005t0008g0336 a0005c0005t0008g0338 a0005c0005t0008g0340 a0005c0005t0008g0341 a0005c0005t0008g0344 a0005c0005t0008g0345 a0005c0005t0008g0346 a0005c0005t0057g0334 a0005c0005t0058g0335 a0005c0005t0059g0332 a0005c0005t0060g0342 a0005c0010t0008g0327 a0005c0010t0008g0328 a0006c0006t0010g0001 a0006c0006t0010g0015 a0006c0006t0010g0016 a0006c0006t0010g0018 a0006c0006t0027g0017 a0016c0022t0001g0143 a0020c0016t0010g0012	50	350	0.1429	24	c.76 others(35): Show c.7666_*7667insAGGGGGCGGGCACAAACATTCGGT	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding		4685		chr1	TogoVar
ITPKB_chr1_226626690_226744282	226740870	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAGAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0165 a0003c0003t0001g0165	1	350	0.0029	24	c.-20 others(35): Show c.-2036_-2035insCTTCTCTTTTTTTTTTTTTTTTTT	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding		1589		chr1	TogoVar
ITPR1_chr3_4488348_4852506	4609089	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0140 a0001c0005t0002g0140	1	176	0.0057	24	c.164 others(43): Show c.164-18673_164-18672insTATATATATATATATACACACACA	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4610974	C C	CCTCCTTC others(17): Show CCTCCTTCTCCTTCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG02895.hp1 others(3): Show HG02486.hp1 HG02647.hp2 HG02895.hp1 HG02965.hp1 HG02970.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0013 a0001c0021	a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0001c0013t0001 a0001c0021t0007	a0001c0001t0002g0018 a0001c0002t0001g0028 a0001c0003t0001g0085 others(3): Show a0001c0001t0002g0018 a0001c0002t0001g0028 a0001c0003t0001g0085 a0001c0008t0001g0020 a0001c0013t0001g0052 a0001c0021t0007g0011	6	176	0.0341	24	c.164 others(43): Show c.164-16787_164-16764dupTCCTTCTCCTTCTCCTTCTCCTTC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4721172	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02486.hp2 HG02293.hp1 HG02486.hp2	a0001 a0001	a0001c0036 a0001c0057 a0001c0036 a0001c0057	a0001c0036t0001 a0001c0057t0005 a0001c0036t0001 a0001c0057t0005	a0001c0036t0001g0019 a0001c0057t0005g0144 a0001c0036t0001g0019 a0001c0057t0005g0144	2	176	0.0114	24	c.513 others(43): Show c.5136+3781_5136+3804dupATATATATATATATATATATATAT	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	40/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831127	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0009 a0001c0038t0009	a0001c0038t0009g0119 a0001c0038t0009g0119	1	176	0.0057	24	c.802 others(43): Show c.8029-5646_8029-5645insACACACACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR1_chr3_4488348_4852506	4831131	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0003 a0001c0039t0003	a0001c0039t0003g0010 a0001c0039t0003g0010	1	176	0.0057	24	c.802 others(43): Show c.8029-5620_8029-5619insACACACACACACACACACACACAC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	60/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26484151	A A	ATATATGT others(17): Show ATATATGTATATATACATATATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG00741.hp1 others(7): Show HG00140.hp1 HG00738.hp1 HG00741.hp1 HG01261.hp1 HG01261.hp2 HG02040.hp2 NA18960.hp1 NA18970.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0012 a0001c0013 a0001c0022 others(4): Show a0001c0012 a0001c0013 a0001c0022 a0001c0027 a0001c0040 a0001c0042 a0001c0045	a0001c0012t0005 a0001c0012t0006 a0001c0012t0039 others(7): Show a0001c0012t0005 a0001c0012t0006 a0001c0012t0039 a0001c0013t0002 a0001c0022t0003 a0001c0027t0055 a0001c0027t0056 a0001c0040t0005 a0001c0042t0025 a0001c0045t0001	a0001c0012t0005g0023 a0001c0012t0006g0080 a0001c0012t0039g0079 others(7): Show a0001c0012t0005g0023 a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0013t0002g0020 a0001c0022t0003g0082 a0001c0027t0055g0137 a0001c0027t0056g0138 a0001c0040t0005g0019 a0001c0042t0025g0001 a0001c0045t0001g0098	10	142	0.0704	24	c.581 others(41): Show c.5812-277_5812-254dupCACATATATGTATATATACATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	41/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26503190	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0055 a0001c0027t0055	a0001c0027t0055g0137 a0001c0027t0055g0137	1	142	0.0070	24	c.507 others(43): Show c.5074-7954_5074-7931dupGTGTGTGTGTGTGTGTGTGTGTGT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26567941	A A	ATATATAT others(17): Show ATATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0006 a0001c0015t0004g0006	1	142	0.0070	24	c.463 others(43): Show c.4631-6013_4631-5990dupATATATATATATATAATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26567952	A A	ATATATAT others(17): Show ATATATATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02630.hp2 HG03209.hp1 HG00741.hp2 HG02630.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0048 a0002c0010 a0002c0052 a0001c0048 a0002c0010 a0002c0052	a0001c0048t0012 a0002c0010t0012 a0002c0052t0001 a0001c0048t0012 a0002c0010t0012 a0002c0052t0001	a0001c0048t0012g0084 a0002c0010t0012g0013 a0002c0052t0001g0073 a0001c0048t0012g0084 a0002c0010t0012g0013 a0002c0052t0001g0073	3	142	0.0211	24	c.463 others(43): Show c.4631-6001_4631-6000insATATATATAATATATATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26567980	A A	ATATATAT others(17): Show ATATATATATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01256.hp1 HG03834.hp2 HG01074.hp2 HG01256.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0003 a0001c0019t0005 a0001c0019t0011 a0001c0001t0003 a0001c0019t0005 a0001c0019t0011	a0001c0001t0003g0065 a0001c0019t0005g0042 a0001c0019t0011g0119 a0001c0001t0003g0065 a0001c0019t0005g0042 a0001c0019t0011g0119	3	142	0.0211	24	c.463 others(43): Show c.4631-6029_4631-6028insATATATATAATATATATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26617658	C C	CAGAGGGA others(17): Show CAGAGGGAGGGAAGGAAGGAGGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01081.hp2 others(24): Show HG00140.hp2 HG00642.hp2 HG01081.hp2 HG01346.hp2 HG01496.hp1 HG01981.hp2 HG02132.hp1 HG02132.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp2 HG02895.hp1 HG03195.hp1 HG03492.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18522.hp1 NA18747.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA19090.hp1 NA19090.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0012 a0001c0018 a0001c0044 a0001c0054 a0001c0059 a0001c0064 a0003c0032 a0008c0039 a0011c0067	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0035 a0001c0002t0046 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0011 a0001c0005t0002 a0001c0006t0026 a0001c0008t0043 a0001c0012t0005 a0001c0018t0047 a0001c0044t0001 a0001c0054t0023 a0001c0059t0002 a0001c0064t0008 a0003c0032t0009 a0008c0039t0001 a0011c0067t0003	a0001c0001t0001g0021 a0001c0001t0001g0064 a0001c0001t0003g0065 others(24): Show a0001c0001t0001g0021 a0001c0001t0001g0064 a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0010g0127 a0001c0001t0035g0053 a0001c0002t0046g0123 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0014g0038 a0001c0003t0014g0099 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0001g0018 a0001c0004t0011g0128 a0001c0005t0002g0039 a0001c0006t0026g0002 a0001c0008t0043g0111 a0001c0012t0005g0023 a0001c0018t0047g0112 a0001c0044t0001g0067 a0001c0054t0023g0136 a0001c0059t0002g0090 a0001c0064t0008g0024 a0003c0032t0009g0049 a0008c0039t0001g0022 a0011c0067t0003g0007	27	142	0.1901	24	c.346 others(43): Show c.3462+3464_3462+3465insTTCCCTCCTTCCTTCCCTCCCTCT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	26/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26617662	G G	GGGAGGGA others(17): Show GGGAGGGAAGGAAGGAGGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02896.hp1 others(3): Show HG02109.hp1 HG02630.hp1 HG02896.hp1 HG02970.hp1 HG03453.hp2 HG03540.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0020 a0001c0030 others(2): Show a0001c0002 a0001c0020 a0001c0030 a0001c0035 a0006c0053	a0001c0002t0007 a0001c0002t0036 a0001c0020t0032 others(3): Show a0001c0002t0007 a0001c0002t0036 a0001c0020t0032 a0001c0030t0004 a0001c0035t0027 a0006c0053t0038	a0001c0002t0007g0014 a0001c0002t0036g0011 a0001c0020t0032g0062 others(3): Show a0001c0002t0007g0014 a0001c0002t0036g0011 a0001c0020t0032g0062 a0001c0030t0004g0009 a0001c0035t0027g0026 a0006c0053t0038g0075	6	142	0.0423	24	c.346 others(43): Show c.3462+3437_3462+3460dupTTCCTTCCCTCCTTCCTTCCCTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	26/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26617684	G G	GAAGGAGG others(17): Show GAAGGAGGGAAGGAAGGAGGGAAGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	142	0.0070	24	c.346 others(43): Show c.3462+3438_3462+3439insTCTTCCCTCCTTCCTTCCCTCCTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	26/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26666135	G G	GAGATAGA others(17): Show GAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03942.hp2 NA18956.hp1 others(2): Show HG03579.hp2 HG03942.hp2 NA18956.hp1 NA19090.hp1 NA20805.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0005 a0001c0018 others(2): Show a0001c0001 a0001c0005 a0001c0018 a0001c0024 a0008c0039	a0001c0001t0001 a0001c0005t0015 a0001c0018t0047 others(2): Show a0001c0001t0001 a0001c0005t0015 a0001c0018t0047 a0001c0024t0010 a0008c0039t0001	a0001c0001t0001g0064 a0001c0005t0015g0051 a0001c0018t0047g0112 others(2): Show a0001c0001t0001g0064 a0001c0005t0015g0051 a0001c0018t0047g0112 a0001c0024t0010g0124 a0008c0039t0001g0022	5	142	0.0352	24	c.141 others(40): Show c.1410-108_1410-85dupATCTATCTATCTATCTATCTATCT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	13/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26785605	G G	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCCGCCCCTACT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02735.hp1 NA20805.hp1 HG01496.hp2 HG02735.hp1 NA20805.hp1	a0001 a0001	a0001c0024 a0001c0028 a0001c0024 a0001c0028	a0001c0024t0010 a0001c0028t0001 a0001c0028t0010 a0001c0024t0010 a0001c0028t0001 a0001c0028t0010	a0001c0024t0010g0124 a0001c0028t0001g0010 a0001c0028t0010g0125 a0001c0024t0010g0124 a0001c0028t0001g0010 a0001c0028t0010g0125	3	142	0.0211	24	c.163 others(41): Show c.163+4551_163+4552insAGTAGGGGCGGCCGGGCAGAGGCG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26785654	G G	GCGCCTCT others(17): Show GCGCCTCTGCCCGGCCGCCCCTACT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp1 HG02257.hp1 others(4): Show HG00738.hp2 HG01192.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02922.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0001c0015 others(3): Show a0001c0001 a0001c0008 a0001c0015 a0001c0049 a0003c0032 a0003c0033	a0001c0001t0007 a0001c0008t0037 a0001c0015t0004 others(4): Show a0001c0001t0007 a0001c0008t0037 a0001c0015t0004 a0001c0015t0044 a0001c0049t0028 a0003c0032t0009 a0003c0033t0034	a0001c0001t0007g0046 a0001c0008t0037g0031 a0001c0015t0004g0006 others(4): Show a0001c0001t0007g0046 a0001c0008t0037g0031 a0001c0015t0004g0006 a0001c0015t0044g0106 a0001c0049t0028g0103 a0003c0032t0009g0049 a0003c0033t0034g0034	7	142	0.0493	24	c.163 others(41): Show c.163+4502_163+4503insAGTAGGGGCGGCCGGGCAGAGGCG	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR3_chr6_33616322_33701562	33639682	C C	CTGGATGG others(17): Show CTGGATGGGTAGATGGGTGGATGGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0001 a0001c0076t0001	a0001c0076t0001g0240 a0001c0076t0001g0240	1	342	0.0029	24	c.90- others(37): Show c.90-794_90-771dupGTAGATGGGTGGATGGGTGGATGG	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	1/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPRID1_chr7_31509090_31661504	31519612	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0023 a0023	a0023c0035 a0023c0035	a0023c0035t0001 a0023c0035t0001	a0023c0035t0001g0220 a0023c0035t0001g0220	1	312	0.0032	24	c.-98 others(41): Show c.-98+5493_-98+5494insATATATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519618	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0004 a0005c0050t0004	a0005c0050t0004g0081 a0005c0050t0004g0081	1	312	0.0032	24	c.-98 others(41): Show c.-98+5499_-98+5500insATATATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CCATATAT others(17): Show CCATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18960.hp1 NA18982.hp1 others(3): Show HG03704.hp2 NA18960.hp1 NA18982.hp1 NA18995.hp1 NA19011.hp2 NA19065.hp1	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0001 a0003c0005 a0012c0016 a0002c0001 a0003c0005 a0012c0016	a0002c0001t0001 a0002c0001t0003 a0003c0005t0003 others(1): Show a0002c0001t0001 a0002c0001t0003 a0003c0005t0003 a0012c0016t0004	a0002c0001t0001g0175 a0002c0001t0003g0176 a0002c0001t0003g0178 others(3): Show a0002c0001t0001g0175 a0002c0001t0003g0176 a0002c0001t0003g0178 a0002c0001t0003g0179 a0003c0005t0003g0180 a0012c0016t0004g0177	6	312	0.0192	24	c.-98 others(41): Show c.-98+5500_-98+5501insCATATATATATATATATATATATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14			chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCCATAT others(17): Show CTCCATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0184 a0003c0007t0003g0184	1	312	0.0032	24	c.-98 others(41): Show c.-98+5501_-98+5502insCCATATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTATAT others(17): Show CTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19030.hp1 HG02129.hp1 NA19030.hp1	a0002 a0026 a0002 a0026	a0002c0001 a0026c0030 a0002c0001 a0026c0030	a0002c0001t0002 a0026c0030t0023 a0002c0001t0002 a0026c0030t0023	a0002c0001t0002g0027 a0026c0030t0023g0170 a0002c0001t0002g0027 a0026c0030t0023g0170	2	312	0.0064	24	c.-98 others(41): Show c.-98+5501_-98+5502insCTATATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCCAT others(17): Show CTCTCCATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0190 a0002c0001t0007g0190	1	312	0.0032	24	c.-98 others(41): Show c.-98+5501_-98+5502insCTCCATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTAT others(17): Show CTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0003 a0004c0044t0003	a0004c0044t0003g0099 a0004c0044t0003g0099	1	312	0.0032	24	c.-98 others(41): Show c.-98+5501_-98+5502insCTCTATATATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19060.hp2 HG01496.hp1 NA19060.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0025 a0001c0003 a0004c0025	a0001c0003t0019 a0004c0025t0003 a0001c0003t0019 a0004c0025t0003	a0001c0003t0019g0045 a0004c0025t0003g0166 a0001c0003t0019g0045 a0004c0025t0003g0166	2	312	0.0064	24	c.-98 others(41): Show c.-98+5501_-98+5502insCTCTCTCTATATATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA19090.hp1 HG00741.hp2 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0007 a0001c0002t0002 a0001c0003t0007	a0001c0002t0002g0115 a0001c0003t0007g0063 a0001c0002t0002g0115 a0001c0003t0007g0063	2	312	0.0064	24	c.-98 others(41): Show c.-98+5501_-98+5502insCTCTCTCTCTCTATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0230 a0001c0003t0001g0230	1	312	0.0032	24	c.-98 others(41): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	312	0.0032	24	c.-98 others(41): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0073	1	312	0.0032	24	c.-98 others(41): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTCTATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31595345	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01975.hp2 others(6): Show HG01099.hp2 HG01175.hp1 HG01975.hp2 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02896.hp2 HG03942.hp2 NA19066.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0001 a0002c0033 a0005c0009 others(2): Show a0002c0001 a0002c0033 a0005c0009 a0005c0039 a0006c0010	a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 others(4): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0033t0005 a0005c0009t0004 a0005c0039t0004 a0006c0010t0031	a0002c0001t0001g0293 a0002c0001t0002g0214 a0002c0001t0005g0275 others(6): Show a0002c0001t0001g0293 a0002c0001t0002g0214 a0002c0001t0005g0275 a0002c0001t0005g0291 a0002c0033t0005g0292 a0005c0009t0004g0018 a0005c0009t0004g0019 a0005c0039t0004g0131 a0006c0010t0031g0297	9	312	0.0289	24	c.122 others(45): Show c.1228+12159_1228+12182dupACACACACACACACACACACACAC	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL2_chr16_19108964_19126629	19120602	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0000 a0001c0001t0040g0000	1	330	0.0030	24	c.45 others(35): Show c.4534_*4557dupATATATATATATATATATATATAT	ITPRIPL2	ENSG00000205730.7	transcript	ENST00000381440.5	protein_coding	1/1	4558	INFO_REALIGN_3_PRIME	chr16	TogoVar
ITSN1_chr21_33637501_33904861	33866933	T T	TAAAGCCA others(17): Show TAAAGCCAGAATCTCATCTCTGTGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp2 HG01106.hp1 others(10): Show HG00323.hp1 HG00597.hp2 HG01106.hp1 HG02071.hp2 HG02155.hp2 HG02559.hp1 HG02683.hp2 HG02922.hp1 HG03195.hp1 NA18945.hp2 NA18973.hp2 NA18975.hp2 NA18991.hp2	a0002 a0002	a0002c0004 a0002c0023 a0002c0031 a0002c0004 a0002c0023 a0002c0031	a0002c0004t0004 a0002c0004t0014 a0002c0004t0015 others(7): Show a0002c0004t0004 a0002c0004t0014 a0002c0004t0015 a0002c0004t0033 a0002c0004t0044 a0002c0004t0062 a0002c0004t0067 a0002c0004t0068 a0002c0023t0004 a0002c0031t0004	a0002c0004t0004g0025 a0002c0004t0004g0045 a0002c0004t0004g0087 others(10): Show a0002c0004t0004g0025 a0002c0004t0004g0045 a0002c0004t0004g0087 a0002c0004t0014g0107 a0002c0004t0014g0108 a0002c0004t0015g0232 a0002c0004t0033g0198 a0002c0004t0044g0147 a0002c0004t0062g0100 a0002c0004t0067g0217 a0002c0004t0068g0169 a0002c0023t0004g0214 a0002c0031t0004g0180	13	242	0.0537	24	c.407 others(41): Show c.4075-298_4075-275dupAAGCCAGAATCTCATCTCTGTGCA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	32/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(17): Show AATATATATATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01168.hp2 HG01433.hp2 others(12): Show HG00558.hp2 HG01168.hp2 HG01433.hp2 HG02056.hp1 HG02071.hp1 HG02135.hp2 HG02165.hp1 HG02280.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp2 HG06807.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0004c0004	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0004c0004t0001	a0001c0001t0001g0117 a0002c0003t0001g0142 a0003c0002t0001g0160 others(12): Show a0001c0001t0001g0117 a0002c0003t0001g0142 a0003c0002t0001g0160 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0168 a0003c0002t0001g0171 a0003c0002t0001g0174 a0003c0002t0001g0175 a0003c0002t0001g0182 a0003c0002t0001g0183 a0004c0004t0001g0006 a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0024	15	224	0.0670	24	c.-33 others(41): Show c.-33-9201_-33-9200insATATATATGTATATATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24337325	T T	TATATACA others(17): Show TATATACACATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0198 a0008c0013t0001g0198	1	224	0.0045	24	c.-33 others(41): Show c.-33-9211_-33-9210insGTATGTATATATATATGTGTATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
IYD_chr6_150364012_150410969	150388630	G G	GCTTTCTT others(17): Show GCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18993.hp1 HG03492.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0102 a0001c0001t0003g0274 a0001c0001t0002g0102 a0001c0001t0003g0274	2	414	0.0048	24	c.179 others(39): Show c.179-690_179-667dupTCTTTCTTTCTTTCTTTCTTTCTT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
IZUMO3_chr9_24537952_24550897	24546498	T T	TTTTCTTT others(17): Show TTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02723.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	426	0.0047	24	c.-85 others(33): Show c.-850_-849insGAAAAGAAAAGAAAAGAAAAGAAA	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		602		chr9	TogoVar
JAK1_chr1_64828229_64971549	64902551	T T	TGTGAGAG others(17): Show TGTGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	326	0.0031	24	c.-77 others(43): Show c.-77-16211_-77-16210insTCTCTCTCTCTCTCTCTCTCTCAC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar

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