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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ISM1_chr20_13216274_13305651	13273215	T T	TTTTTATT others(33): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	396	0.0025	40	c.378 others(57): Show c.378+2511_378+2512insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTT	ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	110	0.0091	40	c.655 others(59): Show c.655+19399_655+19400insAATATATATATATATATATATATATA TATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA10_chr1_145886208_145915050	145909445	C C	CTATATAA others(33): Show CTATATAATATATAATTATGTTATATATTATATGTATATTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA20752.hp2 HG03831.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0160 a0001c0002t0001g0161 a0001c0001t0001g0160 a0001c0002t0001g0161	2	390	0.0051	40	c.52+ others(53): Show c.52+478_52+517dupTAATATACATATAATATATAACATAATTATAT ATTATATA	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	1/29			chr1	TogoVar
ITGA3_chr17_50051110_50095481	50085521	G G	GAGGTTGT others(33): Show GAGGTTGTGGTGTATGTGTGATTGGGGTGGGGAAAGTGTGT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0343 a0001c0005t0003g0343	1	402	0.0025	40	c.292 others(59): Show c.2920-2223_2920-2222insAGGTTGTGGTGTATGTGTGATTGGGG TGGGGAAAGTGTGT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25			chr17	TogoVar
ITGAD_chr16_31388335_31431505	31427961	C C	CCCCCCCC others(33): Show CCCCCCCCCGCCCCCGCAGCACCCCCCCCGCCCCCGCAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	376	0.0027	40	c.18 others(51): Show c.1833_*1834insCCCCCCCCGCCCCCGCAGCACCCCCCCCGCCCCC GCAGCA	ITGAD	ENSG00000156886.12	transcript	ENST00000389202.3	protein_coding		1457		chr16	TogoVar
ITGAM_chr16_31254975_31337877	31302428	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	244	0.0041	40	c.170 others(59): Show c.1707+4476_1707+4477insTCTTTCTTTCTTTCTTTCTTCTTTCT TTCTTTCTTTCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGB2_chr21_44880953_44925899	44906166	C C	CTCCCTCC others(33): Show CTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02572.hp2 others(2): Show HG02055.hp2 HG02572.hp1 HG02572.hp2 HG03540.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0003t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0002	a0001c0001t0004g0283 a0001c0001t0004g0407 a0001c0001t0005g0193 others(2): Show a0001c0001t0004g0283 a0001c0001t0004g0407 a0001c0001t0005g0193 a0001c0001t0005g0352 a0001c0003t0002g0192	5	444	0.0113	40	c.328 others(55): Show c.328+748_328+749insAGGGAGGGAGGGAAGGGAGGGAAGGGAGGG AAGGGAGGGA	ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	4/15			chr21	TogoVar
ITGB3BP_chr1_63435770_63528225	63472443	T T	TCCCTCTC others(33): Show TCCCTCTCCCTCTCCCTCTCCCCTCTCCCCTCTCCCCTCTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0301 a0001c0003t0001g0301	1	374	0.0027	40	c.254 others(57): Show c.254+6320_254+6321insGAGAGGGGAGAGGGGAGAGGGGAGAGGG AGAGGGAGAGGG	ITGB3BP	ENSG00000142856.17	transcript	ENST00000271002.15	protein_coding	4/8			chr1	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TCTTCTTT others(33): Show TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02615.hp2 others(3): Show HG01884.hp2 HG02451.hp1 HG02615.hp2 HG03041.hp1 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0008t0006 a0001c0001t0002 a0001c0008t0002 a0001c0008t0006	a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0008t0002g0307 others(3): Show a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0008t0002g0307 a0001c0008t0002g0308 a0001c0008t0002g0309 a0001c0008t0006g0306	6	352	0.0171	40	c.112 others(59): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAG	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	352	0.0028	40	c.112 others(59): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(33): Show TATATATATATATATATATATATATACACATACATACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	306	0.0033	40	c.101 others(59): Show c.1015+6589_1015+6590insTATATATATATATATATATATATACA CATACATACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(33): Show TATATATATATATATATGTATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0143 a0001c0019t0002g0143	1	306	0.0033	40	c.101 others(59): Show c.1015+6589_1015+6590insTATATATATATATATGTATATATATA TATACACACACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101605152	G G	GTGTGTGT others(33): Show GTGTGTGTATATGCGTATATATACACATATAGACATAGGCA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00544.hp1 others(59): Show HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp1 HG01256.hp1 HG01496.hp1 HG01516.hp2 HG01943.hp1 HG02040.hp1 HG02109.hp1 HG02145.hp1 HG02300.hp1 HG02559.hp1 HG02698.hp1 HG03492.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 NA18747.hp2 NA18941.hp2 NA18944.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0020 a0002c0007 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0006t0001 a0001c0020t0001 a0002c0007t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0021 others(58): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0003g0173 a0001c0002t0001g0006 a0001c0002t0001g0213 a0001c0002t0001g0216 a0001c0002t0001g0225 a0001c0002t0001g0255 a0001c0002t0001g0266 a0001c0002t0001g0281 a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0090 a0001c0003t0001g0104 a0001c0003t0001g0118 a0001c0003t0001g0145 a0001c0003t0001g0149 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0163 a0001c0003t0001g0180 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0185 a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0003t0004g0181 a0001c0006t0001g0246 a0001c0006t0001g0247 a0001c0006t0001g0258 a0001c0006t0001g0269 a0001c0020t0001g0167 a0002c0007t0001g0074 a0002c0007t0001g0164 a0002c0008t0001g0064	62	306	0.2026	40	c.101 others(59): Show c.1015+6874_1015+6875insACACATATAGACATAGGCATGTGTGT ATATGCGTATATAT	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737665	T T	TTCTATAG others(33): Show TTCTATAGAATATTCTATATTATATTCTATATTATATTCTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0001 a0008c0026t0001	a0008c0026t0001g0359 a0008c0026t0001g0359	1	380	0.0026	40	c.195 others(57): Show c.1958-955_1958-954insCTATAGAATATTCTATATTATATTCTAT ATTATATTCTAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737686	T T	TTCTATAG others(33): Show TTCTATAGAATATTCTATATTATATTATATATTATATTCTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	380	0.0026	40	c.195 others(57): Show c.1958-934_1958-933insCTATAGAATATTCTATATTATATTATAT ATTATATTCTAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737686	T T	TTCTATAG others(33): Show TTCTATAGAATATTCTATATTATATTCTATATTATATTCTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01167.hp1 HG03831.hp2 others(1): Show HG00597.hp1 HG01167.hp1 HG03831.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0084 others(1): Show a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0084 a0001c0001t0001g0256	4	380	0.0105	40	c.195 others(57): Show c.1958-934_1958-933insCTATAGAATATTCTATATTATATTCTAT ATTATATTCTAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITLN1_chr1_160871540_160890180	160873767	C C	CATATATA others(33): Show CATATATATATATATATATATACGTATATATATACATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	428	0.0023	40	c.28 others(51): Show c.2896_*2897insATATATGTATATATATACGTATATATATATATAT ATATAT	ITLN1	ENSG00000179914.5	transcript	ENST00000326245.4	protein_coding		2772		chr1	TogoVar
ITPR1_chr3_4488348_4852506	4619746	C C	CTCTGCTC others(33): Show CTCTGCTCTCCCCTGCTCTCCTCTGCCCTCCCCTCCTCTCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0139 a0001c0003t0003g0139	1	176	0.0057	40	c.164 others(57): Show c.164-8012_164-8011insTCTCCCCTGCTCTCCTCTGCCCTCCCCT CCTCTCTTCTGC	ITPR1	ENSG00000150995.21	transcript	ENST00000649015.2	protein_coding	4/61		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPR2_chr12_26330352_26838194	26516265	A A	AGGAAAGG others(33): Show AGGAAAGGAAAGGAAAGGAAAGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0009 a0001c0031t0009	a0001c0031t0009g0003 a0001c0031t0009g0003	1	142	0.0070	40	c.507 others(61): Show c.5074-21006_5074-21005insCTTCCCTTCCCTTCCCTTCCTTTC CTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516270	A A	AGGAAAGG others(33): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0011 a0001c0029t0011	a0001c0029t0011g0130 a0001c0029t0011g0130	1	142	0.0070	40	c.507 others(61): Show c.5074-21011_5074-21010insCTTCCCTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516295	A A	AGGAAAGG others(33): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03516.hp2 HG00642.hp2 HG03516.hp2	a0002 a0011 a0002 a0011	a0002c0010 a0011c0067 a0002c0010 a0011c0067	a0002c0010t0016 a0011c0067t0003 a0002c0010t0016 a0011c0067t0003	a0002c0010t0016g0028 a0011c0067t0003g0007 a0002c0010t0016g0028 a0011c0067t0003g0007	2	142	0.0141	40	c.507 others(61): Show c.5074-21036_5074-21035insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516300	A A	AGGAAAGG others(33): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0100 a0001c0002t0008g0100	1	142	0.0070	40	c.507 others(61): Show c.5074-21041_5074-21040insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516305	A A	AGGAAAGG others(33): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01981.hp1 HG02451.hp2 others(3): Show HG00639.hp1 HG01981.hp1 HG02451.hp2 HG02738.hp1 HG03017.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0058	a0001c0002t0006 a0001c0004t0048 a0001c0005t0016 others(3): Show a0001c0002t0006 a0001c0004t0048 a0001c0005t0016 a0001c0007t0005 a0001c0007t0021 a0001c0058t0050	a0001c0002t0006g0015 a0001c0004t0048g0115 a0001c0005t0016g0025 others(3): Show a0001c0002t0006g0015 a0001c0004t0048g0115 a0001c0005t0016g0025 a0001c0007t0005g0041 a0001c0007t0021g0117 a0001c0058t0050g0116	6	142	0.0423	40	c.507 others(61): Show c.5074-21046_5074-21045insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516310	A A	AGGAAAGG others(33): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0061 a0001c0003t0001g0061	1	142	0.0070	40	c.507 others(61): Show c.5074-21051_5074-21050insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26565848	A A	AGAGGAGA others(33): Show AGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00642.hp1 others(39): Show HG00140.hp2 HG00323.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01168.hp2 HG01243.hp2 HG01256.hp1 HG01361.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02630.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG04199.hp1 NA18747.hp1 NA18906.hp2 NA18956.hp1 NA18956.hp2 NA19056.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(27): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0029 a0001c0037 a0001c0048 a0001c0051 a0001c0056 a0001c0059 a0001c0061 a0001c0064 a0002c0009 a0002c0010 a0002c0052 a0003c0033 a0003c0041 a0007c0050 a0008c0039 a0009c0063	a0001c0001t0003 a0001c0001t0007 a0001c0001t0052 others(37): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0052 a0001c0002t0001 a0001c0002t0040 a0001c0002t0046 a0001c0004t0006 a0001c0004t0010 a0001c0005t0002 a0001c0006t0001 a0001c0006t0003 a0001c0008t0037 a0001c0011t0001 a0001c0015t0044 a0001c0016t0003 a0001c0019t0005 a0001c0019t0011 a0001c0020t0032 a0001c0021t0006 a0001c0024t0021 a0001c0025t0024 a0001c0029t0011 a0001c0029t0049 a0001c0037t0009 a0001c0048t0012 a0001c0051t0002 a0001c0056t0001 a0001c0059t0002 a0001c0061t0045 a0001c0064t0008 a0002c0009t0001 a0002c0009t0041 a0002c0010t0007 a0002c0010t0012 a0002c0052t0001 a0003c0033t0034 a0003c0041t0003 a0007c0050t0003 a0008c0039t0001 a0009c0063t0001	a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0007g0046 others(39): Show a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0007g0046 a0001c0001t0052g0134 a0001c0002t0001g0068 a0001c0002t0040g0047 a0001c0002t0046g0123 a0001c0004t0006g0058 a0001c0004t0010g0118 a0001c0005t0002g0039 a0001c0006t0001g0060 a0001c0006t0003g0048 a0001c0008t0037g0031 a0001c0011t0001g0008 a0001c0015t0044g0106 a0001c0016t0003g0032 a0001c0019t0005g0042 a0001c0019t0011g0119 a0001c0020t0032g0062 a0001c0021t0006g0033 a0001c0024t0021g0122 a0001c0025t0024g0139 a0001c0029t0011g0130 a0001c0029t0049g0121 a0001c0037t0009g0052 a0001c0048t0012g0084 a0001c0051t0002g0005 a0001c0056t0001g0017 a0001c0059t0002g0090 a0001c0061t0045g0114 a0001c0064t0008g0024 a0002c0009t0001g0027 a0002c0009t0001g0029 a0002c0009t0041g0110 a0002c0010t0007g0083 a0002c0010t0012g0013 a0002c0052t0001g0073 a0003c0033t0034g0034 a0003c0041t0003g0091 a0007c0050t0003g0016 a0008c0039t0001g0022 a0009c0063t0001g0087	42	142	0.2958	40	c.463 others(59): Show c.4631-3936_4631-3897dupCCCTCCCCTCTCCTCTCCTCCCCTCC CCTCTCCTCTCCTC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26565973	G G	GGAGGAGA others(33): Show GGAGGAGAGGAGAGGGGAGGAGAGGAGAGGGGAGGAGAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG03540.hp1 others(1): Show HG02257.hp2 HG02280.hp1 HG03540.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0049 others(1): Show a0001c0001 a0001c0006 a0001c0049 a0003c0032	a0001c0001t0001 a0001c0006t0030 a0001c0049t0028 others(1): Show a0001c0001t0001 a0001c0006t0030 a0001c0049t0028 a0003c0032t0009	a0001c0001t0001g0045 a0001c0006t0030g0030 a0001c0049t0028g0103 others(1): Show a0001c0001t0001g0045 a0001c0006t0030g0030 a0001c0049t0028g0103 a0003c0032t0009g0049	4	142	0.0282	40	c.463 others(59): Show c.4631-4022_4631-4021insTCCTCTCCTCCCCTCTCCTCTCCTCC CCTCTCCTCTCCTC	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26772470	T T	TTATATAT others(33): Show TTATATATATAATATATATAATACATATAATACATGTATTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp1 HG03453.hp1 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0049 a0003c0047 a0001c0049 a0003c0047	a0001c0049t0028 a0003c0047t0004 a0001c0049t0028 a0003c0047t0004	a0001c0049t0028g0103 a0003c0047t0004g0076 a0001c0049t0028g0103 a0003c0047t0004g0076	2	142	0.0141	40	c.163 others(59): Show c.163+17686_163+17687insTAATACATGTATTATATGTATTATAT ATATTATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0071 a0001c0003t0001g0071	1	312	0.0032	40	c.-98 others(57): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTATATATATATAT ATATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
IVD_chr15_40400795_40426308	40425440	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	1	378	0.0027	40	c.71 others(51): Show c.7177_*7178insTATATATATATATATATATATATATATATATATA TATATA	IVD	ENSG00000128928.10	transcript	ENST00000487418.8	protein_coding		4133		chr15	TogoVar
JADE3_chrX_46907421_47066242	46999434	C C	CATATATA others(33): Show CATATATATATATATATAACATATATATACATATATAACAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	258	0.0039	40	c.284 others(57): Show c.284+1169_284+1208dupTATATAACATATATATACATATATAACA TATATATATATA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46999436	T T	TATATATA others(33): Show TATATATATATATATATATAACATATATATACATATATAAC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0210 a0001c0001t0005g0210	1	258	0.0039	40	c.284 others(57): Show c.284+1174_284+1175insTATAACATATATATACATATATAACATA TATATATATATA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAKMIP1_chr4_6021199_6205549	6161121	T T	TCTCCCCT others(33): Show TCTCCCCTGATCTCCACTCACCTCCCCTGATCTCCACTCAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	233	0.0043	40	c.-14 others(61): Show c.-148+39092_-148+39131dupGTGAGTGGAGATCAGGGGAGGTGA GTGGAGATCAGGGGAG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0069 a0001c0003t0069	a0001c0003t0069g0180 a0001c0003t0069g0180	1	250	0.0040	40	c.-14 others(61): Show c.-149+40300_-149+40301insAAAATATATATATATATATATATA TATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132071900	T T	TCTTTCCT others(33): Show TCTTTCCTTCCTTTCTTTCTTTCCTTTCTTCCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02132.hp2 NA18952.hp1 others(4): Show HG02040.hp2 HG02132.hp2 NA18952.hp1 NA18954.hp2 NA18971.hp2 NA19081.hp2 NA19088.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0003c0020 a0004c0007 others(1): Show a0003c0003 a0003c0020 a0004c0007 a0004c0009	a0003c0003t0001 a0003c0003t0002 a0003c0003t0012 others(3): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0012 a0003c0020t0003 a0004c0007t0012 a0004c0009t0002	a0003c0003t0001g0071 a0003c0003t0001g0077 a0003c0003t0002g0056 others(4): Show a0003c0003t0001g0071 a0003c0003t0001g0077 a0003c0003t0002g0056 a0003c0003t0012g0063 a0003c0020t0003g0068 a0004c0007t0012g0067 a0004c0009t0002g0075	7	158	0.0443	40	c.-13 others(59): Show c.-138+5842_-138+5843insTCCTTCCTTTCTTTCTTTCCTTTCTT CCCTTCCTTTCCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132139471	T T	TGTGTGAG others(33): Show TGTGTGAGTGTGTGTGAGAGTATGTGAGTGTGTATGTGTGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01069.hp2 others(25): Show HG00423.hp2 HG00544.hp2 HG01069.hp2 HG01346.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02074.hp1 HG02135.hp2 HG02155.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 NA18944.hp2 NA18983.hp1 NA18999.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0013 others(2): Show a0001c0001 a0001c0006 a0001c0013 a0001c0032 a0001c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0021 a0001c0001t0038 a0001c0006t0003 a0001c0006t0017 a0001c0006t0025 a0001c0006t0035 a0001c0013t0001 a0001c0013t0016 a0001c0013t0036 a0001c0032t0037 a0001c0040t0002	a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 others(25): Show a0001c0001t0001g0116 a0001c0001t0002g0007 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0003g0097 a0001c0001t0003g0102 a0001c0001t0004g0127 a0001c0001t0005g0137 a0001c0001t0006g0006 a0001c0001t0008g0100 a0001c0001t0021g0119 a0001c0001t0038g0014 a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 a0001c0006t0017g0154 a0001c0006t0025g0153 a0001c0006t0035g0057 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0013t0036g0005 a0001c0032t0037g0124 a0001c0040t0002g0025	28	158	0.1772	40	c.134 others(57): Show c.1345-964_1345-925dupAGAGTATGTGAGTGTGTATGTGTGAGTG TGAGTGTGTGTG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132172966	C C	CCTCTCTC others(33): Show CCTCTCTCTCTCTCTCCTTCCCTCTCTCTCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0036 a0001c0013t0036	a0001c0013t0036g0005 a0001c0013t0036g0005	1	158	0.0063	40	c.11 others(61): Show c.1103+3942_*1103+3943insTCTCTCCTTCCCTCTCTCTCTCTC TCTCCCTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM3_chr11_134064072_134157001	134139547	T T	TGTAGAGA others(33): Show TGTAGAGACTTGGTCAATGTAGAGATTGTCAATGTATGTAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18980.hp2 NA18993.hp1 others(3): Show NA18950.hp1 NA18980.hp2 NA18993.hp1 NA19081.hp2 NA19088.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0016 a0001c0001t0010g0268 a0001c0001t0010g0275 others(2): Show a0001c0001t0010g0016 a0001c0001t0010g0268 a0001c0001t0010g0275 a0001c0001t0010g0276 a0001c0001t0010g0277	6	390	0.0154	40	c.77- others(53): Show c.77-304_77-303insGTAGAGACTTGGTCAATGTAGAGATTGTCAAT GTATGTAG	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding	1/8			chr11	TogoVar
JARID2_chr6_15241069_15527042	15469352	T T	TCCTCCCC others(33): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0007 a0001c0003t0042g0007	1	284	0.0035	40	c.670 others(55): Show c.670+635_670+636insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CCTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(33): Show GACACAGACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp1 HG02258.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0019 a0001c0001t0020g0115 a0001c0001t0002g0019 a0001c0001t0020g0115	2	206	0.0097	40	c.386 others(57): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(33): Show GACACAGACACAGACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0002	1	206	0.0049	40	c.386 others(57): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTGTGTGT CTGTGTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(33): Show GACACAGACACAGACACAGACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02630.hp1 others(1): Show HG02257.hp2 HG02280.hp1 HG02630.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0002g0033 others(1): Show a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0002g0033 a0001c0001t0002g0035	4	206	0.0194	40	c.386 others(57): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTCTGTGT CTGTGTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(33): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0198 a0003c0003t0001g0198	1	310	0.0032	40	c.333 others(59): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	386	0.0026	40	c.65- others(55): Show c.65-1325_65-1324insATATATATATATATATATATATATATTTTT TTTTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(33): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	386	0.0026	40	c.65- others(55): Show c.65-1325_65-1324insATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JOSD1_chr22_38680543_38705943	38705093	T T	TCTCTCTC others(33): Show TCTCTCTCAACAACAACAACGGAGGAGGAGGAAAAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	376	0.0027	40	c.-49 others(51): Show c.-4926_-4925insTCTCTCTTTTCCTCCTCCTCCGTTGTTGTTGTTG AGAGAG	JOSD1	ENSG00000100221.11	transcript	ENST00000683374.1	protein_coding		4151		chr22	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(33): Show GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18969.hp2 NA18975.hp2 others(1): Show HG00597.hp2 NA18969.hp2 NA18975.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0033 a0002c0002t0027 a0002c0002t0033	a0002c0002t0027g0229 a0002c0002t0027g0230 a0002c0002t0027g0233 others(1): Show a0002c0002t0027g0229 a0002c0002t0027g0230 a0002c0002t0027g0233 a0002c0002t0033g0305	4	338	0.0118	40	c.117 others(59): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(33): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18955.hp2 NA19068.hp1 others(1): Show HG02074.hp2 NA18955.hp2 NA19068.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0013 a0002c0002t0033 a0001c0001t0001 a0002c0002t0013 a0002c0002t0033	a0001c0001t0001g0267 a0002c0002t0013g0139 a0002c0002t0013g0140 others(1): Show a0001c0001t0001g0267 a0002c0002t0013g0139 a0002c0002t0013g0140 a0002c0002t0033g0299	4	338	0.0118	40	c.117 others(59): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTTC CTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(33): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02071.hp1 HG02257.hp2 others(4): Show HG01884.hp2 HG02071.hp1 HG02257.hp2 HG02735.hp1 HG03209.hp2 NA18954.hp1 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0005	a0001c0001t0002 a0001c0006t0011 a0002c0002t0003 others(4): Show a0001c0001t0002 a0001c0006t0011 a0002c0002t0003 a0002c0002t0013 a0002c0002t0020 a0002c0002t0081 a0002c0005t0031	a0001c0001t0002g0064 a0001c0006t0011g0168 a0002c0002t0003g0067 others(4): Show a0001c0001t0002g0064 a0001c0006t0011g0168 a0002c0002t0003g0067 a0002c0002t0013g0147 a0002c0002t0020g0154 a0002c0002t0081g0181 a0002c0005t0031g0204	7	338	0.0207	40	c.117 others(59): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTCC CTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(33): Show GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02132.hp2 HG01261.hp1 HG02132.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0012 a0002c0002t0084 a0001c0001t0012 a0002c0002t0084	a0001c0001t0012g0158 a0002c0002t0084g0193 a0001c0001t0012g0158 a0002c0002t0084g0193	2	338	0.0059	40	c.117 others(59): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(33): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp1 others(15): Show HG00597.hp1 HG00609.hp1 HG00621.hp1 HG03834.hp2 NA18612.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18964.hp1 NA18986.hp1 NA18995.hp1 NA18999.hp1 NA19060.hp1 NA19068.hp2 NA19079.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0012 a0002c0002 others(2): Show a0001c0006 a0001c0012 a0002c0002 a0002c0005 a0002c0017	a0001c0006t0011 a0001c0012t0021 a0002c0002t0006 others(9): Show a0001c0006t0011 a0001c0012t0021 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0015 a0002c0002t0025 a0002c0002t0101 a0002c0005t0004 a0002c0005t0010 a0002c0005t0025 a0002c0017t0010	a0001c0006t0011g0169 a0001c0012t0021g0218 a0002c0002t0006g0146 others(15): Show a0001c0006t0011g0169 a0001c0012t0021g0218 a0002c0002t0006g0146 a0002c0002t0009g0109 a0002c0002t0010g0031 a0002c0002t0015g0121 a0002c0002t0025g0045 a0002c0002t0101g0254 a0002c0005t0004g0216 a0002c0005t0004g0217 a0002c0005t0010g0008 a0002c0005t0010g0009 a0002c0005t0010g0014 a0002c0005t0010g0016 a0002c0005t0010g0021 a0002c0005t0025g0007 a0002c0005t0025g0010 a0002c0017t0010g0015	18	338	0.0533	40	c.117 others(59): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar

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