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	status	chr	external
HTR3C_chr3_184048047_184065673	184058475	A A	AAGCCCCC others(79): Show AAGCCCCCATCTCAATCATATACCAAATCTCTCCCTCACTAAACGTAAGC CTTCTCCTCACTCTCTCAATCTTATCCAGCATAGCAG	frameshift_variant frameshift_variant	HIGH	HG02451.hp1 HG02451.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0003 a0010c0010t0003	a0010c0010t0003g0096 a0010c0010t0003g0096	1	442	0.0023	86	c.608 others(93): Show c.608_609insAGCCCCCATCTCAATCATATACCAAATCTCTCCCTCAC TAAACGTAAGCCTTCTCCTCACTCTCTCAATCTTATCCAGCATAGCAG	p.Asp others(5): Show p.Asp203fs	HTR3C	ENSG00000178084.2	transcript	ENST00000318351.2	protein_coding	6/9	643/1699	609/1344	203/447		chr3	TogoVar
HTT_chr4_3069681_3248957	3074876	C C	CAGCAGCA others(10): Show CAGCAGCAGCAGCAGCAG	frameshift_variant frameshift_variant	HIGH	HG02055.hp2 HG02055.hp2	a0092 a0092	a0092c0044 a0092c0044	a0092c0044t0015 a0092c0044t0015	a0092c0044t0015g0003 a0092c0044t0015g0003	1	294	0.0034	17	c.51_ others(22): Show c.51_52insAGCAGCAGCAGCAGCAG	p.Gln others(4): Show p.Gln18fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	197/13472	52/9429	18/3142		chr4	TogoVar
HTT_chr4_3069681_3248957	3074913	CAGCAGCA others(16): Show CAGCAGCAGCAGCAGCAGCAGCAA	C C	frameshift_variant frameshift_variant	HIGH	HG01070.hp1 HG01070.hp1	a0040 a0040	a0040c0045 a0040c0045	a0040c0045t0002 a0040c0045t0002	a0040c0045t0002g0103 a0040c0045t0002g0103	1	294	0.0034	-23	c.89_ others(29): Show c.89_111delAGCAGCAGCAGCAGCAGCAGCAA	p.Gln others(4): Show p.Gln30fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	234/13472	89/9429	30/3142		chr4	TogoVar
HTT_chr4_3069681_3248957	3074931	CAGCAA CAGCAA	C C	frameshift_variant frameshift_variant	HIGH	HG01975.hp2 HG02055.hp1 HG02257.hp2 others(1): Show HG01975.hp2 HG02055.hp1 HG02257.hp2 HG02717.hp2	a0017 a0048 a0017 a0048	a0017c0018 a0048c0057 a0017c0018 a0048c0057	a0017c0018t0003 a0048c0057t0003 a0017c0018t0003 a0048c0057t0003	a0017c0018t0003g0091 a0017c0018t0003g0092 a0017c0018t0003g0097 others(1): Show a0017c0018t0003g0091 a0017c0018t0003g0092 a0017c0018t0003g0097 a0048c0057t0003g0098	4	294	0.0136	-5	c.107 others(12): Show c.107_111delAGCAA	p.Gln others(4): Show p.Gln36fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	252/13472	107/9429	36/3142		chr4	TogoVar
HTT_chr4_3069681_3248957	3074938	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG01070.hp1 HG01975.hp2 HG02055.hp1 others(2): Show HG01070.hp1 HG01975.hp2 HG02055.hp1 HG02257.hp2 HG02717.hp2	a0017 a0040 a0048 a0017 a0040 a0048	a0017c0018 a0040c0045 a0048c0057 a0017c0018 a0040c0045 a0048c0057	a0017c0018t0003 a0040c0045t0002 a0048c0057t0003 a0017c0018t0003 a0040c0045t0002 a0048c0057t0003	a0017c0018t0003g0091 a0017c0018t0003g0092 a0017c0018t0003g0097 others(2): Show a0017c0018t0003g0091 a0017c0018t0003g0092 a0017c0018t0003g0097 a0040c0045t0002g0103 a0048c0057t0003g0098	5	294	0.0170	-1	c.114 others(4): Show c.114delG	p.Gln others(4): Show p.Gln38fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	259/13472	114/9429	38/3142		chr4	TogoVar
HTT_chr4_3069681_3248957	3074945	A A	ACCGCCCG others(3): Show ACCGCCCGCCG	frameshift_variant frameshift_variant	HIGH	NA18961.hp2 NA18961.hp2	a0076 a0076	a0076c0101 a0076c0101	a0076c0101t0002 a0076c0101t0002	a0076c0101t0002g0266 a0076c0101t0002g0266	1	294	0.0034	10	c.125 others(17): Show c.125_126insCGCCGCCGCC	p.Pro others(4): Show p.Pro43fs	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/67	271/13472	126/9429	42/3142	INFO_REALIGN_3_PRIME	chr4	TogoVar
HUS1B_chr6_650939_662100	656816	GGGGCCGA others(10): Show GGGGCCGAAGCACAGGCT	G G	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01175.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0001 a0007c0021t0001	a0007c0021t0001g0000 a0007c0021t0001g0000	1	432	0.0023	-17	c.112 others(24): Show c.112_128delAGCCTGTGCTTCGGCCC	p.Ser others(4): Show p.Ser38fs	HUS1B	ENSG00000188996.5	transcript	ENST00000380907.3	protein_coding	1/1	284/1162	112/837	38/278		chr6	TogoVar
HUWE1_chrX_53527096_53691719	53549069	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	1	c.992 others(5): Show c.9924dupG	p.Arg others(6): Show p.Arg3309fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	67/84	10317/14731	9924/13125	3308/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53559363	T T	TGG TGG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0016 a0005c0012t0016	a0005c0012t0016g0181 a0005c0012t0016g0181	1	214	0.0047	2	c.790 others(11): Show c.7904_7905dupCC	p.Ser others(6): Show p.Ser2636fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	57/84	8298/14731	7905/13125	2635/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53559455	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0016 a0005c0012t0016	a0005c0012t0016g0181 a0005c0012t0016g0181	1	214	0.0047	-1	c.781 others(5): Show c.7813delC	p.Arg others(6): Show p.Arg2605fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	57/84	8206/14731	7813/13125	2605/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53560245	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0016 a0005c0012t0016	a0005c0012t0016g0181 a0005c0012t0016g0181	1	214	0.0047	1	c.767 others(5): Show c.7678dupA	p.Thr others(6): Show p.Thr2560fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	56/84	8071/14731	7678/13125	2560/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53560256	AT AT	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0016 a0005c0012t0016	a0005c0012t0016g0181 a0005c0012t0016g0181	1	214	0.0047	-1	c.766 others(5): Show c.7667delA	p.Asn others(6): Show p.Asn2556fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	56/84	8060/14731	7667/13125	2556/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53562841	G G	GGT GGT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0016 a0005c0012t0016	a0005c0012t0016g0181 a0005c0012t0016g0181	1	214	0.0047	2	c.719 others(11): Show c.7193_7194insAC	p.Asn others(6): Show p.Asn2399fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	53/84	7586/14731	7193/13125	2398/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53564635	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0016 a0005c0012t0016	a0005c0012t0016g0181 a0005c0012t0016g0181	1	214	0.0047	-1	c.696 others(5): Show c.6967delG	p.Ala others(6): Show p.Ala2323fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	51/84	7360/14731	6967/13125	2323/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53568729	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	1	c.666 others(5): Show c.6669dupT	p.Asp others(6): Show p.Asp2224fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	49/84	7062/14731	6669/13125	2223/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53568739	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	-1	c.665 others(5): Show c.6659delG	p.Gly others(6): Show p.Gly2220fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	49/84	7052/14731	6659/13125	2220/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53569637	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	-1	c.650 others(5): Show c.6502delG	p.Glu others(6): Show p.Glu2168fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	48/84	6895/14731	6502/13125	2168/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53569652	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	-1	c.648 others(5): Show c.6487delG	p.Ala others(6): Show p.Ala2163fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	48/84	6880/14731	6487/13125	2163/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53569657	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	-1	c.648 others(5): Show c.6482delG	p.Gly others(6): Show p.Gly2161fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	48/84	6875/14731	6482/13125	2161/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53569753	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	1	c.638 others(5): Show c.6386dupC	p.Ala others(6): Show p.Ala2130fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	48/84	6779/14731	6386/13125	2129/4374		chrX	TogoVar
HUWE1_chrX_53527096_53691719	53569815	G G	GCA GCA	frameshift_variant frameshift_variant	HIGH	NA19083.hp1 NA19083.hp1	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0119 a0003c0016t0002g0119	1	214	0.0047	2	c.632 others(11): Show c.6323_6324dupTG	p.Leu others(6): Show p.Leu2109fs	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	48/84	6717/14731	6324/13125	2108/4374		chrX	TogoVar
HYAL1_chr3_50294893_50308574	50302766	T T	TGGGGGGG others(28): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA18747.hp1 NA18747.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0033 a0008c0008t0002g0033	1	384	0.0026	35	c.190 others(42): Show c.190_191insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	p.Gln others(4): Show p.Gln64fs	HYAL1	ENSG00000114378.17	transcript	ENST00000395144.7	protein_coding	2/4	323/2031	190/1308	64/435		chr3	TogoVar
HYAL4_chr7_123840169_123882481	123868706	G G	GATTGGGA others(3): Show GATTGGGAATA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19055.hp2 NA19055.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0125 a0005c0007t0001g0125	1	394	0.0025	10	c.434 others(17): Show c.434_443dupATTGGGAATA	p.Tyr others(5): Show p.Tyr148fs	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	3/5	1082/2410	444/1446	148/481	INFO_REALIGN_3_PRIME	chr7	TogoVar
ICAM5_chr19_10284952_10301778	10293783	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00642.hp2 HG00673.hp1 others(32): Show HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01515.hp1 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02895.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 NA18906.hp1 NA18944.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp2 NA18981.hp1 NA18987.hp1 NA18994.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA20129.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0003c0008 a0003c0012 others(4): Show a0003c0005 a0003c0008 a0003c0012 a0003c0019 a0004c0006 a0004c0007 a0004c0016	a0003c0005t0001 a0003c0008t0001 a0003c0012t0001 others(4): Show a0003c0005t0001 a0003c0008t0001 a0003c0012t0001 a0003c0019t0001 a0004c0006t0001 a0004c0007t0001 a0004c0016t0001	a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0014 others(13): Show a0003c0005t0001g0001 a0003c0005t0001g0003 a0003c0005t0001g0014 a0003c0008t0001g0004 a0003c0008t0001g0005 a0003c0008t0001g0006 a0003c0008t0001g0031 a0003c0008t0001g0039 a0003c0012t0001g0009 a0003c0019t0001g0001 a0004c0006t0001g0002 a0004c0006t0001g0016 a0004c0007t0001g0002 a0004c0007t0001g0007 a0004c0007t0001g0019 a0004c0016t0001g0002	35	432	0.0810	1	c.155 others(5): Show c.1555dupG	p.Val others(5): Show p.Val519fs	ICAM5	ENSG00000105376.5	transcript	ENST00000221980.5	protein_coding	7/11	1648/3029	1556/2775	519/924	INFO_REALIGN_3_PRIME	chr19	TogoVar
ICAM5_chr19_10284952_10301778	10294266	CGCCACCA others(7): Show CGCCACCAACCGCCA	C C	frameshift_variant frameshift_variant	HIGH	NA18972.hp2 NA18972.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0024 a0005c0017t0001g0024	1	432	0.0023	-14	c.193 others(23): Show c.1939_1952delGCCACCAACCGCCA	p.Ala others(5): Show p.Ala647fs	ICAM5	ENSG00000105376.5	transcript	ENST00000221980.5	protein_coding	8/11	2031/3029	1939/2775	647/924		chr19	TogoVar
IDH3G_chrX_153780768_153799375	153786810	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0063 a0007c0008t0001g0063	1	299	0.0033	1	c.914 others(4): Show c.914dupT	p.Phe others(5): Show p.Phe306fs	IDH3G	ENSG00000067829.20	transcript	ENST00000217901.10	protein_coding	10/13	963/1335	914/1182	305/393		chrX	TogoVar
IDH3G_chrX_153780768_153799375	153787078	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0024 a0005c0009t0002g0024	1	299	0.0033	1	c.749 others(4): Show c.749dupA	p.Asn others(5): Show p.Asn250fs	IDH3G	ENSG00000067829.20	transcript	ENST00000217901.10	protein_coding	9/13	798/1335	749/1182	250/393		chrX	TogoVar
IDH3G_chrX_153780768_153799375	153787112	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19077.hp2 NA19077.hp2	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0074 a0008c0005t0001g0074	1	299	0.0033	1	c.715 others(4): Show c.715dupG	p.Val others(5): Show p.Val239fs	IDH3G	ENSG00000067829.20	transcript	ENST00000217901.10	protein_coding	9/13	764/1335	715/1182	239/393		chrX	TogoVar
IDH3G_chrX_153780768_153799375	153787505	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18946.hp2 NA18946.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0024 a0005c0009t0002g0024	1	299	0.0033	1	c.632 others(4): Show c.632dupG	p.Ser others(5): Show p.Ser211fs	IDH3G	ENSG00000067829.20	transcript	ENST00000217901.10	protein_coding	8/13	681/1335	632/1182	211/393		chrX	TogoVar
IDH3G_chrX_153780768_153799375	153787952	G G	GC GC	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18946.hp2 NA18946.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0024 a0005c0009t0002g0024	1	299	0.0033	1	c.410 others(8): Show c.410_411insG	p.Ser others(5): Show p.Ser138fs	IDH3G	ENSG00000067829.20	transcript	ENST00000217901.10	protein_coding	7/13	459/1335	410/1182	137/393		chrX	TogoVar
IDH3G_chrX_153780768_153799375	153790260	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19077.hp2 NA19077.hp2	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0074 a0008c0005t0001g0074	1	299	0.0033	1	c.167 others(4): Show c.167dupC	p.Val others(4): Show p.Val57fs	IDH3G	ENSG00000067829.20	transcript	ENST00000217901.10	protein_coding	4/13	216/1335	167/1182	56/393		chrX	TogoVar
IDH3G_chrX_153780768_153799375	153790574	TC TC	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19077.hp2 NA19077.hp2	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0074 a0008c0005t0001g0074	1	299	0.0033	-1	c.124 others(4): Show c.124delG	p.Glu others(4): Show p.Glu42fs	IDH3G	ENSG00000067829.20	transcript	ENST00000217901.10	protein_coding	3/13	173/1335	124/1182	42/393		chrX	TogoVar
IDI1_chr10_1034419_1054119	1043329	T T	TTGCTGTA others(52): Show TTGCTGTAGCAGAAGCTTATTTTCGGTGTTGAATAAGAAGACACTAAAAG CTCGATGCAA	frameshift_variant frameshift_variant	HIGH	NA19070.hp1 NA19070.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0078 a0004c0007t0002g0078	1	438	0.0023	59	c.319 others(66): Show c.319_377dupTTGCATCGAGCTTTTAGTGTCTTCTTATTCAACACCGA AAATAAGCTTCTGCTACAGCA	p.Gln others(5): Show p.Gln126fs	IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding	3/5	493/2739	377/855	126/284		chr10	TogoVar
IDS_chrX_149471988_149510306	149487096	A A	ACCCTAGT others(18): Show ACCCTAGTTCATAAAAAGCACAGAAT	frameshift_variant others(2): Show frameshift_variant stop_gained splice_region_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0153 a0008c0008t0001g0153	1	303	0.0033	25	c.100 others(37): Show c.1007-23_1008dupATTCTGTGCTTTTTATGAACTAGGG	p.Trp others(5): Show p.Trp337fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	8/9	1177/7580	1008/1653	336/550		chrX	TogoVar
IDS_chrX_149471988_149510306	149496404	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0153 a0008c0008t0001g0153	1	303	0.0033	1	c.820 others(4): Show c.820dupG	p.Glu others(5): Show p.Glu274fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	6/9	989/7580	820/1653	274/550		chrX	TogoVar
IDS_chrX_149471988_149510306	149498121	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0042 a0011c0013t0042	a0011c0013t0042g0155 a0011c0013t0042g0155	1	303	0.0033	1	c.693 others(4): Show c.693dupC	p.Phe others(5): Show p.Phe232fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	5/9	862/7580	693/1653	231/550		chrX	TogoVar
IDS_chrX_149471988_149510306	149498224	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0042 a0011c0013t0042	a0011c0013t0042g0155 a0011c0013t0042g0155	1	303	0.0033	-1	c.590 others(4): Show c.590delC	p.Pro others(5): Show p.Pro197fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	5/9	759/7580	590/1653	197/550		chrX	TogoVar
IDS_chrX_149471988_149510306	149498295	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0042 a0011c0013t0042	a0011c0013t0042g0155 a0011c0013t0042g0155	1	303	0.0033	-1	c.519 others(4): Show c.519delG	p.Pro others(5): Show p.Pro174fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	5/9	688/7580	519/1653	173/550		chrX	TogoVar
IDS_chrX_149471988_149510306	149503469	G G	GCT GCT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0042 a0011c0013t0042	a0011c0013t0042g0155 a0011c0013t0042g0155	1	303	0.0033	2	c.259 others(9): Show c.259_260dupAG	p.Ser others(4): Show p.Ser87fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	3/9	429/7580	260/1653	87/550		chrX	TogoVar
IDS_chrX_149471988_149510306	149505096	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0042 a0011c0013t0042	a0011c0013t0042g0155 a0011c0013t0042g0155	1	303	0.0033	-1	c.41d others(3): Show c.41delG	p.Gly others(4): Show p.Gly14fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	1/9	210/7580	41/1653	14/550		chrX	TogoVar
IDS_chrX_149471988_149510306	149505124	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18940.hp1 NA18940.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0034 a0004c0005t0002g0034	1	303	0.0033	1	c.13d others(3): Show c.13dupC	p.Arg others(3): Show p.Arg5fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	1/9	182/7580	13/1653	5/550		chrX	TogoVar
IFNK_chr9_27519290_27531498	27524366	G G	GTGTT GTGTT	frameshift_variant frameshift_variant	HIGH	HG02004.hp1 HG02257.hp1 HG02486.hp2 others(5): Show HG02004.hp1 HG02257.hp1 HG02486.hp2 HG02895.hp1 HG02976.hp1 HG03017.hp1 HG03834.hp1 NA21309.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0010 a0003c0004t0005 a0003c0004t0010	a0003c0004t0005g0009 a0003c0004t0010g0009 a0003c0004t0005g0009 a0003c0004t0010g0009	8	448	0.0179	4	c.34_ others(9): Show c.34_37dupTTGT	p.Trp others(4): Show p.Trp13fs	IFNK	ENSG00000147896.4	transcript	ENST00000276943.3	protein_coding	1/2	85/1164	38/624	13/207	INFO_REALIGN_3_PRIME	chr9	TogoVar
IGBP1_chrX_70128447_70171324	70134615	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0189 a0003c0004t0001g0189	1	245	0.0041	-1	c.285 others(4): Show c.285delC	p.Ser others(4): Show p.Ser96fs	IGBP1	ENSG00000089289.16	transcript	ENST00000356413.5	protein_coding	3/7	604/1682	285/1020	95/339	INFO_REALIGN_3_PRIME	chrX	TogoVar
IGF1R_chr15_98643539_98969530	98957406	GCGGGCCT others(6): Show GCGGGCCTTGCCGC	G G	frameshift_variant frameshift_variant	HIGH	HG01175.hp1 HG01175.hp1	a0000 a0000	a0000c0016 a0000c0016	a0000c0016t0046 a0000c0016t0046	a0000c0016t0046g0154 a0000c0016t0046g0154	1	210	0.0048	-13	c.406 others(22): Show c.4069_4081delCGGGCCTTGCCGC	p.Arg others(6): Show p.Arg1357fs	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding	21/21	5112/12235	4069/4104	1357/1367		chr15	TogoVar
IGFALS_chr16_1785413_1798705	1790640	TCGAGCCC others(3): Show TCGAGCCCCAC	T T	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0005 a0014c0025t0005	a0014c0025t0005g0059 a0014c0025t0005g0059	1	452	0.0022	-10	c.176 others(19): Show c.1768_1777delGTGGGGCTCG	p.Val others(5): Show p.Val590fs	IGFALS	ENSG00000099769.6	transcript	ENST00000215539.4	protein_coding	2/2	1830/2058	1768/1818	590/605		chr16	TogoVar
IGFALS_chr16_1785413_1798705	1790730	TGGACGAA others(7): Show TGGACGAAGCGGGGC	T T	frameshift_variant frameshift_variant	HIGH	NA18986.hp1 NA18986.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0005 a0014c0025t0005	a0014c0025t0005g0059 a0014c0025t0005g0059	1	452	0.0022	-14	c.167 others(23): Show c.1674_1687delGCCCCGCTTCGTCC	p.Pro others(5): Show p.Pro559fs	IGFALS	ENSG00000099769.6	transcript	ENST00000215539.4	protein_coding	2/2	1740/2058	1674/1818	558/605		chr16	TogoVar
IGFN1_chr1_201185824_201233952	201209798	G G	GCAGGTTA others(208): Show GCAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAATAGGTTCAGGAAG TAAGGCAGGTTTTAGGGATGGTTTAGGGGGTTCTGAAGAAATGGGGTCAG TGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGT TCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAAT GGGGTCAGTGAATGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG03098.hp2 HG03098.hp2	a0047 a0047	a0047c0128 a0047c0128	a0047c0128t0004 a0047c0128t0004	a0047c0128t0004g0139 a0047c0128t0004g0139	1	428	0.0023	215	c.490 others(224): Show c.4905_4906insCAGGTTATAGGAAGGACTTGGGGGTTCCTGAGGGAA TAGGTTCAGGAAGTAAGGCAGGTTTTAGGGATGGTTTAGGGGGTTCTGAA GAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCC TAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGG GTTCTGGAGAAATGGGGTCAGTGAATGAA	p.Ala others(6): Show p.Ala1636fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5037/11811	4906/11127	1636/3708		chr1	TogoVar
IGFN1_chr1_201185824_201233952	201209798	G G	GGCAGGTT others(100): Show GGCAGGTTATAGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAG TAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAG TGAATGAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19001.hp1 NA19001.hp1	a0080 a0080	a0080c0079 a0080c0079	a0080c0079t0003 a0080c0079t0003	a0080c0079t0003g0229 a0080c0079t0003g0229	1	428	0.0023	107	c.491 others(116): Show c.4916_4917insAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGG AGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTC AGTGAATGAAGCAGGTTATAG	p.Lys others(6): Show p.Lys1640fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	5048/11811	4917/11127	1639/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(208): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGG AGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTC CTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAGGG AGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19058.hp1 NA19058.hp1	a0093 a0093	a0093c0064 a0093c0064	a0093c0064t0003 a0093c0064t0003	a0093c0064t0003g0225 a0093c0064t0003g0225	1	428	0.0023	215	c.612 others(224): Show c.6123_6124insAAGGGAATGGGTTAGGCAGTAAGGCAAGTTTTAGGG ATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTAT AGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGG TTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGAGG CAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(210): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGGTTCT GGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGC TCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAG GGAGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0081 a0081	a0081c0109 a0081c0109	a0081c0109t0001 a0081c0109t0001	a0081c0109t0001g0125 a0081c0109t0001g0125	1	428	0.0023	217	c.612 others(226): Show c.6123_6124insAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGG GATGGTTTAGGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTT ATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCA GGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGA GGCAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708	INFO_REALIGN_3_PRIME	chr1	TogoVar

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