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
IL9R_chrX_155992696_156015817	156003514	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0008 a0021c0015t0008	a0021c0015t0008g0121 a0021c0015t0008g0121	1	220	0.0046	-1	c.212 others(4): Show c.212delC	p.Pro others(4): Show p.Pro71fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	3/9	276/2038	212/1566	71/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156005381	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0113 a0020c0017t0001g0113	1	220	0.0046	-1	c.685 others(4): Show c.685delG	p.Ala others(5): Show p.Ala229fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	6/9	749/2038	685/1566	229/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156009833	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0034 a0016c0023t0004g0034	1	220	0.0046	1	c.994 others(4): Show c.994dupG	p.Ala others(5): Show p.Ala332fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1059/2038	995/1566	332/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156009833	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0008 a0021c0015t0008	a0021c0015t0008g0121 a0021c0015t0008g0121	1	220	0.0046	-1	c.994 others(4): Show c.994delG	p.Ala others(5): Show p.Ala332fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1058/2038	994/1566	332/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156009936	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0008 a0021c0015t0008	a0021c0015t0008g0121 a0021c0015t0008g0121	1	220	0.0046	1	c.109 others(10): Show c.1093_1094insA	p.Arg others(5): Show p.Arg365fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1158/2038	1094/1566	365/521		chrX	TogoVar
IL9R_chrX_155992696_156015817	156009942	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0034 a0016c0023t0004g0034	1	220	0.0046	1	c.110 others(5): Show c.1101dupG	p.Lys others(5): Show p.Lys368fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1166/2038	1102/1566	368/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156009994	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0034 a0016c0023t0004g0034	1	220	0.0046	-1	c.115 others(5): Show c.1155delG	p.Asn others(5): Show p.Asn386fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1219/2038	1155/1566	385/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156010007	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0034 a0016c0023t0004g0034	1	220	0.0046	1	c.116 others(5): Show c.1165dupT	p.Ser others(5): Show p.Ser389fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1230/2038	1166/1566	389/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156010101	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0008 a0021c0015t0008	a0021c0015t0008g0121 a0021c0015t0008g0121	1	220	0.0046	1	c.126 others(5): Show c.1260dupG	p.Pro others(5): Show p.Pro421fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1325/2038	1261/1566	421/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156010109	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA21309.hp2 NA21309.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0034 a0016c0023t0004g0034	1	220	0.0046	-1	c.127 others(5): Show c.1271delC	p.Pro others(5): Show p.Pro424fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1335/2038	1271/1566	424/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156010190	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0008 a0021c0015t0008	a0021c0015t0008g0121 a0021c0015t0008g0121	1	220	0.0046	-1	c.135 others(5): Show c.1352delG	p.Gly others(5): Show p.Gly451fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1416/2038	1352/1566	451/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156010305	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0008 a0021c0015t0008	a0021c0015t0008g0121 a0021c0015t0008g0121	1	220	0.0046	-1	c.146 others(5): Show c.1464delC	p.Trp others(5): Show p.Trp489fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1528/2038	1464/1566	488/521	INFO_REALIGN_3_PRIME	chrX	TogoVar
IL9R_chrX_155992696_156015817	156010314	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0021 a0021	a0021c0015 a0021c0015	a0021c0015t0008 a0021c0015t0008	a0021c0015t0008g0121 a0021c0015t0008g0121	1	220	0.0046	-1	c.147 others(5): Show c.1472delT	p.Leu others(5): Show p.Leu491fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	9/9	1536/2038	1472/1566	491/521		chrX	TogoVar
IMPG2_chr3_101217546_101325575	101320333	TACCCAGA others(9): Show TACCCAGAGAAATCTTC	T T	frameshift_variant frameshift_variant	HIGH	NA18957.hp1 NA18957.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0024 a0007c0008t0024	a0007c0008t0024g0013 a0007c0008t0024g0013	1	360	0.0028	-16	c.24_ others(21): Show c.24_39delGAAGATTTCTCTGGGT	p.Lys others(3): Show p.Lys9fs	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	1/19	242/8352	24/3726	8/1241		chr3	TogoVar
INF2_chr14_104684618_104727535	104707525	ACCCCACC others(6): Show ACCCCACCCCCACC	A A	frameshift_variant frameshift_variant	HIGH	NA18949.hp2 NA18949.hp2	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0051 a0014c0028t0051	a0014c0028t0051g0231 a0014c0028t0051g0231	1	380	0.0026	-13	c.126 others(22): Show c.1262_1274delCACCCCCACCCCC	p.Pro others(5): Show p.Pro421fs	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	8/23	1393/7623	1262/3750	421/1249	INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104714664	C C	CCAGGTGG others(28): Show CCAGGTGGGGATGAGGACGAGGACGAGGAGGACACG	frameshift_variant frameshift_variant	HIGH	HG00558.hp2 HG00558.hp2	a0020 a0020	a0020c0030 a0020c0030	a0020c0030t0078 a0020c0030t0078	a0020c0030t0078g0005 a0020c0030t0078g0005	1	380	0.0026	35	c.350 others(44): Show c.3503_3537dupCAGGTGGGGATGAGGACGAGGACGAGGAGGACACG	p.Ala others(6): Show p.Ala1180fs	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	21/23	3669/7623	3538/3750	1180/1249	INFO_REALIGN_3_PRIME	chr14	TogoVar
INHBB_chr2_120341136_120356803	120346311	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00741.hp1 HG01192.hp1 HG02486.hp1 others(8): Show HG00741.hp1 HG01192.hp1 HG02486.hp1 HG02486.hp2 HG03516.hp1 HG04204.hp1 NA18946.hp2 NA18961.hp1 NA19057.hp1 NA19090.hp1 NA19090.hp2	a0003 a0004 a0003 a0004	a0003c0005 a0003c0009 a0003c0010 others(1): Show a0003c0005 a0003c0009 a0003c0010 a0004c0007	a0003c0005t0001 a0003c0005t0007 a0003c0009t0002 others(2): Show a0003c0005t0001 a0003c0005t0007 a0003c0009t0002 a0003c0010t0002 a0004c0007t0002	a0003c0005t0001g0001 a0003c0005t0001g0007 a0003c0005t0001g0020 others(6): Show a0003c0005t0001g0001 a0003c0005t0001g0007 a0003c0005t0001g0020 a0003c0005t0007g0003 a0003c0009t0002g0022 a0003c0010t0002g0002 a0004c0007t0002g0010 a0004c0007t0002g0026 a0004c0007t0002g0062	11	456	0.0241	1	c.128 others(4): Show c.128dupC	p.Pro others(4): Show p.Pro44fs	INHBB	ENSG00000163083.6	transcript	ENST00000295228.4	protein_coding	1/2	182/3206	129/1224	43/407	INFO_REALIGN_3_PRIME	chr2	TogoVar
INSRR_chr1_156835063_156864117	156841666	AGACATCC others(31): Show AGACATCCGAGTGGGTGGTGAAGATCCCATCTTTGAGGG	A A	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19007.hp1 NA19007.hp1	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0002 a0007c0023t0002	a0007c0023t0002g0207 a0007c0023t0002g0207	1	356	0.0028	-38	c.348 others(47): Show c.3488_3525delCCCTCAAAGATGGGATCTTCACCACCCACTCGGATG TC	p.Ser others(6): Show p.Ser1163fs	INSRR	ENSG00000027644.5	transcript	ENST00000368195.4	protein_coding	20/22	4021/5200	3488/3894	1163/1297		chr1	TogoVar
INTS10_chr8_19812416_19857067	19832076	T T	TAAGAATC others(312): Show TAAGAATCTTCCTCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0094 a0002c0014t0003g0094	1	420	0.0024	319	c.136 others(328): Show c.1360_1361insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAGAATCTTCCTCACTG	p.Asp others(5): Show p.Asp454fs	INTS10	ENSG00000104613.12	transcript	ENST00000397977.8	protein_coding	11/17	1483/2517	1361/2133	454/710	INFO_REALIGN_3_PRIME	chr8	TogoVar
INTS3_chr1_153723050_153779808	153770198	TTCAGAGC others(9): Show TTCAGAGCCTAGACTGG	T T	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0278 a0003c0005t0001g0278	1	349	0.0029	-16	c.239 others(25): Show c.2391_2406delTCAGAGCCTAGACTGG	p.Ile others(5): Show p.Ile797fs	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding	24/30	2976/5252	2391/3129	797/1042		chr1	TogoVar
INTS5_chr11_62641848_62658302	62647411	T T	TCCCAATG others(63): Show TCCCAATGGCCCAAGAGGGCGGCCAGCAGCCCCCGAAGCAGCACGGAACA GTAGCACAGGGCTGGGGGTGC	frameshift_variant frameshift_variant	HIGH	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0020 a0005c0011t0002g0020	1	368	0.0027	70	c.259 others(79): Show c.2599_2668dupGCACCCCCAGCCCTGTGCTACTGTTCCGTGCTGCTT CGGGGGCTGCTGGCCGCCCTCTTGGGCCATTGGG	p.Glu others(5): Show p.Glu890fs	INTS5	ENSG00000185085.2	transcript	ENST00000330574.2	protein_coding	2/2	2721/3285	2668/3060	890/1019		chr11	TogoVar
INTS6L_chrX_135515660_135587510	135569362	TA TA	T T	frameshift_variant frameshift_variant	HIGH	NA18956.hp1 NA18956.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0029 a0005c0008t0001g0029	1	244	0.0041	-1	c.122 others(5): Show c.1220delA	p.Lys others(5): Show p.Lys407fs	INTS6L	ENSG00000165359.16	transcript	ENST00000639893.2	protein_coding	10/18	1553/3904	1220/2697	407/898	INFO_REALIGN_3_PRIME	chrX	TogoVar
INTS6L_chrX_135515660_135587510	135569365	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0133 a0004c0005t0001g0133	1	244	0.0041	-1	c.122 others(5): Show c.1223delC	p.Pro others(5): Show p.Pro408fs	INTS6L	ENSG00000165359.16	transcript	ENST00000639893.2	protein_coding	10/18	1556/3904	1223/2697	408/898	INFO_REALIGN_3_PRIME	chrX	TogoVar
INTS6L_chrX_135515660_135587510	135573977	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0047 a0003c0006t0002g0047	1	244	0.0041	1	c.166 others(5): Show c.1660dupC	p.Arg others(5): Show p.Arg554fs	INTS6L	ENSG00000165359.16	transcript	ENST00000639893.2	protein_coding	13/18	1994/3904	1661/2697	554/898	INFO_REALIGN_3_PRIME	chrX	TogoVar
INTS6L_chrX_135515660_135587510	135581535	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18963.hp1 NA18963.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0047 a0003c0006t0002g0047	1	244	0.0041	1	c.259 others(5): Show c.2597dupG	p.Arg others(5): Show p.Arg867fs	INTS6L	ENSG00000165359.16	transcript	ENST00000639893.2	protein_coding	18/18	2931/3904	2598/2697	866/898	INFO_REALIGN_3_PRIME	chrX	TogoVar
INVS_chr9_100094243_100307175	100240112	C C	CCAACAAA others(990): Show CCAACAAAGATCAAAAAAGACAAAGAAGGGAATTCCTTAAAGGTAAAAGG ATCAATATAACAAGAAGAGCGAACTATCCTAAATATATATGCACCCAATA CAGGAGCACCCAGATTCATAAAGCAAGTTCTTTGAGACCTACAAAGAGAC TTACACTCCCACACAATAATAGTGGGATACTTTAACACCCCACTGTCAAT ATTAGATGGATCAACACAACAGAAAATTAAGAAGGATATTCAGGACTTGA ACTCAGCTATGGATCAAGTGGACCTAATAAACATCTACAGAACTCTCCAC CCCAAATCAACAGAATATATATTCTTCTCAGTACCACATAGAACTTACTC TAAAATTGACCACGTAATTGGAAGTAAAACCTCCTCAGCAAATGTAAAAG AATGGAAATCATAACAGACAGTCTCTTAGACCACAGTGCAATCAAATTAG AACTCAGGATTAAGAAACTCACTCAAAACCGCACAACTACATGGAAACTG AACAACCTGCTCCTGAATGACTACTGAGCAAATAATGAAATAAAAGCAGA AATAAATAAGTTCTTTGAAACCAATGAGAACAAAGACACAACGTACCAGA ATCTGCGGGACACAGCTAAAGCAGTGGTTAGAGGGAAATTTACAGCACTA AATGCCCACAGGACAAAGTAGGAAAGATCTAAAATTGACACCCTAACATC ACAATTAAAACAAGTAGAGAATCAAGAGCAAACAAATTAAAAACCTAACA GAAGACAAGAGATAACTAAGATCAGAGCAGTACTGAAGGAGACAGAAACA TGAGAAATCCTTCAAAAAAATCAGTGAATCCAGGAGCTGGTTTTTTGAAA AGACTAACAAAATAGACCACTAGCCAGACTAATAAAGAAGAAAACAGAGA ATTAAATAGACACAATAAAAAATGATATAGGGGATATCACCACTGACCCC ACAGAAATACAAACTACCATCAGAGAATACTATAAACACTTCCATGCA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02056.hp2 HG02056.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0104 a0007c0011t0002g0104	1	182	0.0055	997	c.668 others(1004): Show c.668_669insCAACAAAGATCAAAAAAGACAAAGAAGGGAATTCCTTA AAGGTAAAAGGATCAATATAACAAGAAGAGCGAACTATCCTAAATATATA TGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTTCTTTGAGACC TACAAAGAGACTTACACTCCCACACAATAATAGTGGGATACTTTAACACC CCACTGTCAATATTAGATGGATCAACACAACAGAAAATTAAGAAGGATAT TCAGGACTTGAACTCAGCTATGGATCAAGTGGACCTAATAAACATCTACA GAACTCTCCACCCCAAATCAACAGAATATATATTCTTCTCAGTACCACAT AGAACTTACTCTAAAATTGACCACGTAATTGGAAGTAAAACCTCCTCAGC AAATGTAAAAGAATGGAAATCATAACAGACAGTCTCTTAGACCACAGTGC AATCAAATTAGAACTCAGGATTAAGAAACTCACTCAAAACCGCACAACTA CATGGAAACTGAACAACCTGCTCCTGAATGACTACTGAGCAAATAATGAA ATAAAAGCAGAAATAAATAAGTTCTTTGAAACCAATGAGAACAAAGACAC AACGTACCAGAATCTGCGGGACACAGCTAAAGCAGTGGTTAGAGGGAAAT TTACAGCACTAAATGCCCACAGGACAAAGTAGGAAAGATCTAAAATTGAC ACCCTAACATCACAATTAAAACAAGTAGAGAATCAAGAGCAAACAAATTA AAAACCTAACAGAAGACAAGAGATAACTAAGATCAGAGCAGTACTGAAGG AGACAGAAACATGAGAAATCCTTCAAAAAAATCAGTGAATCCAGGAGCTG GTTTTTTGAAAAGACTAACAAAATAGACCACTAGCCAGACTAATAAAGAA GAAAACAGAGAATTAAATAGACACAATAAAAAATGATATAGGGGATATCA CCACTGACCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACAC TTCCATGCA	p.Pro others(5): Show p.Pro224fs	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	6/17	867/4897	669/3198	223/1065		chr9	TogoVar
IQCA1L_chr7_151185873_151210496	151195597	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show HG00408.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0005 a0008 others(8): Show a0002 a0005 a0008 a0009 a0014 a0016 a0018 a0028 a0033 a0037 a0045	a0002c0003 a0002c0012 a0002c0015 others(26): Show a0002c0003 a0002c0012 a0002c0015 a0002c0025 a0002c0036 a0002c0037 a0002c0075 a0002c0076 a0002c0087 a0002c0102 a0005c0005 a0005c0019 a0005c0097 a0008c0024 a0008c0030 a0008c0042 a0008c0043 a0009c0011 a0014c0026 a0014c0028 a0016c0022 a0016c0081 a0018c0035 a0018c0073 a0018c0074 a0028c0041 a0033c0095 a0037c0086 a0045c0067	a0002c0003t0001 a0002c0012t0001 a0002c0015t0001 others(26): Show a0002c0003t0001 a0002c0012t0001 a0002c0015t0001 a0002c0025t0001 a0002c0036t0001 a0002c0037t0001 a0002c0075t0001 a0002c0076t0001 a0002c0087t0001 a0002c0102t0001 a0005c0005t0001 a0005c0019t0001 a0005c0097t0001 a0008c0024t0001 a0008c0030t0001 a0008c0042t0001 a0008c0043t0001 a0009c0011t0001 a0014c0026t0001 a0014c0028t0001 a0016c0022t0001 a0016c0081t0001 a0018c0035t0001 a0018c0073t0001 a0018c0074t0001 a0028c0041t0001 a0033c0095t0001 a0037c0086t0001 a0045c0067t0001	a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 others(80): Show a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0053 a0002c0003t0001g0101 a0002c0003t0001g0108 a0002c0003t0001g0152 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0190 a0002c0012t0001g0013 a0002c0012t0001g0107 a0002c0012t0001g0134 a0002c0012t0001g0151 a0002c0012t0001g0154 a0002c0012t0001g0179 a0002c0012t0001g0183 a0002c0012t0001g0189 a0002c0015t0001g0003 a0002c0025t0001g0030 a0002c0025t0001g0275 a0002c0025t0001g0276 a0002c0036t0001g0153 a0002c0036t0001g0178 a0002c0037t0001g0116 a0002c0037t0001g0135 a0002c0075t0001g0188 a0002c0076t0001g0131 a0002c0087t0001g0124 a0002c0102t0001g0277 a0005c0005t0001g0006 a0005c0005t0001g0059 a0005c0005t0001g0060 a0005c0005t0001g0064 a0005c0005t0001g0067 a0005c0005t0001g0201 a0005c0005t0001g0207 a0005c0005t0001g0220 a0005c0005t0001g0221 a0005c0005t0001g0226 a0005c0005t0001g0235 a0005c0019t0001g0061 a0005c0019t0001g0224 a0005c0019t0001g0227 a0005c0019t0001g0233 a0005c0019t0001g0292 a0005c0097t0001g0234 a0008c0024t0001g0062 a0008c0024t0001g0208 a0008c0024t0001g0211 a0008c0024t0001g0245 a0008c0030t0001g0056 a0008c0030t0001g0246 a0008c0042t0001g0209 a0008c0042t0001g0249 a0008c0043t0001g0242 a0008c0043t0001g0255 a0009c0011t0001g0004 a0009c0011t0001g0193 a0009c0011t0001g0195 a0009c0011t0001g0196 a0014c0026t0001g0075 a0014c0026t0001g0086 a0014c0026t0001g0087 a0014c0026t0001g0088 a0014c0028t0001g0020 a0016c0022t0001g0112 a0016c0022t0001g0129 a0016c0022t0001g0167 a0016c0022t0001g0168 a0016c0022t0001g0170 a0016c0081t0001g0118 a0018c0035t0001g0176 a0018c0035t0001g0177 a0018c0073t0001g0119 a0018c0074t0001g0175 a0028c0041t0001g0055 a0033c0095t0001g0204 a0037c0086t0001g0100 a0045c0067t0001g0192	132	448	0.2946	-1	c.137 others(5): Show c.1375delG	p.Glu others(5): Show p.Glu459fs	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	11/19	1417/2606	1375/2457	459/818		chr7	TogoVar
IQCA1L_chr7_151185873_151210496	151204745	C C	CTACCTGC others(4): Show CTACCTGCACTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19030.hp1 NA19030.hp1	a0030 a0030	a0030c0050 a0030c0050	a0030c0050t0001 a0030c0050t0001	a0030c0050t0001g0068 a0030c0050t0001g0068	1	448	0.0022	11	c.102 others(18): Show c.102_103insTAGTGCAGGTA	p.Glu others(4): Show p.Glu35fs	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	2/19	144/2606	102/2457	34/818		chr7	TogoVar
IQCB1_chr3_121764761_121840060	121770470	TCAGGGTT others(10): Show TCAGGGTTGTGAGATGGG	T T	frameshift_variant frameshift_variant	HIGH	NA19063.hp2 NA19063.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0007 a0007c0007t0007	a0007c0007t0007g0240 a0007c0007t0007g0240	1	308	0.0033	-17	c.165 others(26): Show c.1655_1671delCCCATCTCACAACCCTG	p.Ala others(5): Show p.Ala552fs	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	15/15	1867/2577	1655/1797	552/598		chr3	TogoVar
IQCM_chr4_149346709_149820843	149733320	TGG TGG	T T	frameshift_variant frameshift_variant	HIGH	HG00639.hp2 HG02896.hp1 HG02897.hp1 others(3): Show HG00639.hp2 HG02896.hp1 HG02897.hp1 HG03942.hp1 NA19240.hp1 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0016 a0003c0005t0001g0139 a0003c0005t0001g0192 others(3): Show a0003c0005t0001g0016 a0003c0005t0001g0139 a0003c0005t0001g0192 a0003c0005t0001g0196 a0003c0005t0001g0223 a0003c0005t0001g0247	6	252	0.0238	-2	c.307 others(9): Show c.307_308delCC	p.Pro others(5): Show p.Pro103fs	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	5/14	638/2078	307/1506	103/501		chr4	TogoVar
IQCN_chr19_18252098_18279452	18267502	TGATTACC others(3): Show TGATTACCGGA	T T	frameshift_variant frameshift_variant	HIGH	NA18957.hp1 NA18957.hp1	a0020 a0020	a0020c0025 a0020c0025	a0020c0025t0002 a0020c0025t0002	a0020c0025t0002g0305 a0020c0025t0002g0305	1	434	0.0023	-10	c.28_ others(15): Show c.28_37delTCCGGTAATC	p.Ser others(4): Show p.Ser10fs	IQCN	ENSG00000130518.18	transcript	ENST00000392413.5	protein_coding	3/4	196/4345	28/4104	10/1367		chr19	TogoVar
IQSEC1_chr3_12892043_13078429	12901341	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG01978.hp1 HG01978.hp2 HG02027.hp1 others(14): Show HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG03927.hp1 HG03927.hp2 NA18956.hp1 NA18966.hp1 NA18966.hp2 NA18979.hp2 NA18982.hp2 NA20300.hp2	a0000 a0000	a0000c0002 a0000c0015 a0000c0019 others(2): Show a0000c0002 a0000c0015 a0000c0019 a0000c0023 a0000c0029	a0000c0002t0001 a0000c0002t0002 a0000c0002t0005 others(8): Show a0000c0002t0001 a0000c0002t0002 a0000c0002t0005 a0000c0002t0009 a0000c0002t0010 a0000c0002t0052 a0000c0002t0062 a0000c0015t0002 a0000c0019t0070 a0000c0023t0003 a0000c0029t0056	a0000c0002t0001g0084 a0000c0002t0001g0087 a0000c0002t0001g0090 others(14): Show a0000c0002t0001g0084 a0000c0002t0001g0087 a0000c0002t0001g0090 a0000c0002t0001g0104 a0000c0002t0001g0140 a0000c0002t0001g0180 a0000c0002t0002g0014 a0000c0002t0002g0158 a0000c0002t0005g0085 a0000c0002t0009g0197 a0000c0002t0010g0095 a0000c0002t0052g0044 a0000c0002t0062g0203 a0000c0015t0002g0112 a0000c0019t0070g0229 a0000c0023t0003g0151 a0000c0029t0056g0053	17	250	0.0680	1	c.298 others(5): Show c.2986dupC	p.His others(5): Show p.His996fs	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	14/14	3401/7700	2986/3345	996/1114		chr3	TogoVar
IQSEC2_chrX_53227876_53326350	53234604	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA19076.hp1 NA18974.hp1 NA19076.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0005 a0002c0006t0001g0068 a0002c0006t0001g0005 a0002c0006t0001g0068	2	213	0.0094	1	c.408 others(5): Show c.4081dupC	p.Leu others(6): Show p.Leu1361fs	IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	15/15	4308/6037	4081/4467	1361/1488		chrX	TogoVar
IRAK1_chrX_154005507_154024902	154013366	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18975.hp1 NA18975.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0092 a0012c0015t0001g0092	1	280	0.0036	1	c.160 others(5): Show c.1606dupA	p.Ser others(5): Show p.Ser536fs	IRAK1	ENSG00000184216.15	transcript	ENST00000369980.8	protein_coding	12/14	1696/3581	1606/2139	536/712		chrX	TogoVar
IRAK1_chrX_154005507_154024902	154014131	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18975.hp1 NA18975.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0092 a0012c0015t0001g0092	1	280	0.0036	-1	c.144 others(5): Show c.1449delG	p.Cys others(5): Show p.Cys485fs	IRAK1	ENSG00000184216.15	transcript	ENST00000369980.8	protein_coding	11/14	1539/3581	1449/2139	483/712		chrX	TogoVar
IRAK1_chrX_154005507_154024902	154018669	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18960.hp1 NA18960.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0078 a0011c0012t0001g0078	1	280	0.0036	1	c.658 others(4): Show c.658dupG	p.Glu others(5): Show p.Glu220fs	IRAK1	ENSG00000184216.15	transcript	ENST00000369980.8	protein_coding	5/14	748/3581	658/2139	220/712		chrX	TogoVar
IRAK1_chrX_154005507_154024902	154019260	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19084.hp1 NA19084.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0097 a0014c0017t0001g0097	1	280	0.0036	1	c.372 others(4): Show c.372dupC	p.Ala others(5): Show p.Ala125fs	IRAK1	ENSG00000184216.15	transcript	ENST00000369980.8	protein_coding	3/14	462/3581	372/2139	124/712		chrX	TogoVar
IRAK1_chrX_154005507_154024902	154019445	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA19084.hp1 NA19084.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0097 a0014c0017t0001g0097	1	280	0.0036	1	c.289 others(4): Show c.289dupG	p.Asp others(4): Show p.Asp97fs	IRAK1	ENSG00000184216.15	transcript	ENST00000369980.8	protein_coding	2/14	379/3581	289/2139	97/712		chrX	TogoVar
IRF2BP1_chr19_45878608_45891141	45884308	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01099.hp1 HG01099.hp2 others(11): Show HG00735.hp2 HG01099.hp1 HG01099.hp2 HG01496.hp1 HG02523.hp2 HG03669.hp1 NA18969.hp1 NA18974.hp2 NA18981.hp1 NA18987.hp1 NA18997.hp1 NA19012.hp2 NA19059.hp2 NA19068.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0007	a0003c0007 a0004c0008 a0006c0016 others(1): Show a0003c0007 a0004c0008 a0006c0016 a0007c0013	a0003c0007t0001 a0003c0007t0002 a0004c0008t0001 others(2): Show a0003c0007t0001 a0003c0007t0002 a0004c0008t0001 a0006c0016t0002 a0007c0013t0001	a0003c0007t0001g0000 a0003c0007t0002g0000 a0004c0008t0001g0000 others(2): Show a0003c0007t0001g0000 a0003c0007t0002g0000 a0004c0008t0001g0000 a0006c0016t0002g0000 a0007c0013t0001g0000	14	416	0.0337	1	c.146 others(5): Show c.1466dupG	p.Gly others(5): Show p.Gly490fs	IRF2BP1	ENSG00000170604.5	transcript	ENST00000302165.5	protein_coding	1/1	1833/2534	1466/1755	489/584		chr19	TogoVar
IRF9_chr14_24156265_24171565	24164638	TCTACAAC others(10): Show TCTACAACGGGCGCGTGG	T T	frameshift_variant frameshift_variant	HIGH	NA18957.hp1 NA18957.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0002 a0003c0008t0001g0002	1	438	0.0023	-17	c.675 others(24): Show c.675_691delCTACAACGGGCGCGTGG	p.Tyr others(5): Show p.Tyr226fs	IRF9	ENSG00000213928.10	transcript	ENST00000396864.8	protein_coding	7/9	750/1626	675/1182	225/393		chr14	TogoVar
IRS2_chr13_109747695_109791583	109782805	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00673.hp2 HG00741.hp1 others(24): Show HG00621.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01255.hp1 HG01433.hp1 HG02738.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18953.hp2 NA18966.hp2 NA18980.hp1 NA18985.hp2 NA18988.hp2 NA18992.hp2 NA18999.hp1 NA19010.hp1 NA19064.hp1 NA19072.hp1 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp2	a0003 a0004 a0003 a0004	a0003c0008 a0003c0010 a0003c0012 others(2): Show a0003c0008 a0003c0010 a0003c0012 a0004c0006 a0004c0025	a0003c0008t0002 a0003c0008t0004 a0003c0008t0009 others(11): Show a0003c0008t0002 a0003c0008t0004 a0003c0008t0009 a0003c0008t0032 a0003c0010t0001 a0003c0010t0003 a0003c0010t0010 a0003c0012t0002 a0003c0012t0012 a0003c0012t0031 a0004c0006t0001 a0004c0006t0002 a0004c0006t0007 a0004c0025t0001	a0003c0008t0002g0130 a0003c0008t0002g0131 a0003c0008t0002g0133 others(24): Show a0003c0008t0002g0130 a0003c0008t0002g0131 a0003c0008t0002g0133 a0003c0008t0002g0134 a0003c0008t0004g0129 a0003c0008t0009g0128 a0003c0008t0032g0132 a0003c0010t0001g0060 a0003c0010t0003g0056 a0003c0010t0003g0058 a0003c0010t0003g0059 a0003c0010t0010g0057 a0003c0012t0002g0242 a0003c0012t0012g0243 a0003c0012t0031g0241 a0004c0006t0001g0184 a0004c0006t0001g0187 a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0190 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0002g0186 a0004c0006t0007g0185 a0004c0025t0001g0287	27	398	0.0678	1	c.324 others(5): Show c.3248dupC	p.Pro others(6): Show p.Pro1084fs	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/2	3778/8156	3248/4017	1083/1338		chr13	TogoVar
IRS2_chr13_109747695_109791583	109783844	G G	GGGGAGCT others(19): Show GGGGAGCTCTCGGCGGGCGAGCTGGCC	frameshift_variant frameshift_variant	HIGH	HG02132.hp1 HG02132.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0003 a0011c0019t0003	a0011c0019t0003g0169 a0011c0019t0003g0169	1	398	0.0025	26	c.218 others(35): Show c.2184_2209dupGGCCAGCTCGCCCGCCGAGAGCTCCC	p.Pro others(5): Show p.Pro737fs	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/2	2739/8156	2209/4017	737/1338		chr13	TogoVar
IRS4_chrX_108714946_108741563	108733699	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0087 a0011c0015t0001g0087	1	308	0.0033	-1	c.264 others(5): Show c.2645delC	p.Pro others(5): Show p.Pro882fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	2864/6563	2645/3771	882/1256		chrX	TogoVar
IRS4_chrX_108714946_108741563	108734392	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0015 a0014c0019t0015	a0014c0019t0015g0111 a0014c0019t0015g0111	1	308	0.0033	-1	c.195 others(5): Show c.1952delG	p.Gly others(5): Show p.Gly651fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	2171/6563	1952/3771	651/1256		chrX	TogoVar
IRS4_chrX_108714946_108741563	108734572	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG03927.hp2 HG03927.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0070 a0012c0014t0001g0070	1	308	0.0033	1	c.177 others(5): Show c.1772dupG	p.Lys others(5): Show p.Lys592fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	1991/6563	1772/3771	591/1256		chrX	TogoVar
IRS4_chrX_108714946_108741563	108735045	GA GA	G G	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0035 a0013c0011t0001g0035	1	308	0.0033	-1	c.129 others(5): Show c.1299delT	p.Arg others(5): Show p.Arg434fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	1518/6563	1299/3771	433/1256		chrX	TogoVar
IRS4_chrX_108714946_108741563	108735222	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0015 a0014c0019t0015	a0014c0019t0015g0111 a0014c0019t0015g0111	1	308	0.0033	-1	c.112 others(5): Show c.1122delG	p.Arg others(5): Show p.Arg374fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	1341/6563	1122/3771	374/1256		chrX	TogoVar
IRS4_chrX_108714946_108741563	108735502	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0035 a0013c0011t0001g0035	1	308	0.0033	1	c.842 others(4): Show c.842dupG	p.Ser others(5): Show p.Ser281fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	1061/6563	842/3771	281/1256		chrX	TogoVar
IRS4_chrX_108714946_108741563	108735615	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19072.hp1 NA19072.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0001 a0013c0011t0001	a0013c0011t0001g0035 a0013c0011t0001g0035	1	308	0.0033	-1	c.729 others(4): Show c.729delG	p.Leu others(5): Show p.Leu244fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	948/6563	729/3771	243/1256		chrX	TogoVar
IRS4_chrX_108714946_108741563	108735671	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01069.hp1 HG01069.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0015 a0014c0019t0015	a0014c0019t0015g0111 a0014c0019t0015g0111	1	308	0.0033	1	c.673 others(4): Show c.673dupG	p.Ala others(5): Show p.Ala225fs	IRS4	ENSG00000133124.12	transcript	ENST00000372129.4	protein_coding	1/2	892/6563	673/3771	225/1256		chrX	TogoVar

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