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
DUSP9_chrX_153642203_153656326	153648001	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG04184.hp1 HG04184.hp2 HG04184.hp1 HG04184.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	2	328	0.0061	1	c.53d others(3): Show c.53dupC	p.Arg others(4): Show p.Arg19fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	2/4	312/2434	54/1155	18/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP9_chrX_153642203_153656326	153649292	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0011 a0007c0008t0011	a0007c0008t0011g0009 a0007c0008t0011g0009	1	328	0.0031	1	c.435 others(4): Show c.435dupT	p.Ala others(5): Show p.Ala146fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	3/4	694/2434	436/1155	146/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP9_chrX_153642203_153656326	153650100	A A	AT AT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18987.hp1 NA18987.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0013 a0005c0009t0020g0013	1	328	0.0031	1	c.951 others(4): Show c.951dupT	p.Asp others(5): Show p.Asp318fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	4/4	1210/2434	952/1155	318/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP9_chrX_153642203_153656326	153650103	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0013 a0005c0009t0020g0013	1	328	0.0031	1	c.955 others(4): Show c.955dupC	p.Leu others(5): Show p.Leu319fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	4/4	1214/2434	956/1155	319/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP9_chrX_153642203_153656326	153650211	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0013 a0005c0009t0020g0013	1	328	0.0031	1	c.106 others(5): Show c.1064dupG	p.Ser others(5): Show p.Ser356fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	4/4	1323/2434	1065/1155	355/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
DUSP9_chrX_153642203_153656326	153650218	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18987.hp1 NA18987.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0020 a0005c0009t0020	a0005c0009t0020g0013 a0005c0009t0020g0013	1	328	0.0031	1	c.107 others(5): Show c.1074dupG	p.Gln others(5): Show p.Gln359fs	DUSP9	ENSG00000130829.18	transcript	ENST00000342782.4	protein_coding	4/4	1333/2434	1075/1155	359/384	INFO_REALIGN_3_PRIME	chrX	TogoVar
DVL1_chr1_1330278_1354418	1348916	CTTAAAGA others(4): Show CTTAAAGAAGAA	C C	frameshift_variant frameshift_variant	HIGH	HG01517.hp2 HG01517.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0003 a0009c0009t0003	a0009c0009t0003g0040 a0009c0009t0003g0040	1	344	0.0029	-11	c.139 others(18): Show c.139_149delTTCTTCTTTAA	p.Phe others(4): Show p.Phe47fs	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding	1/15	502/3305	139/2088	47/695		chr1	TogoVar
DYNLT3_chrX_37833836_37852571	37840614	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0012 a0000c0004t0012	a0000c0004t0012g0109 a0000c0004t0012g0109	1	324	0.0031	-1	c.311 others(4): Show c.311delA	p.Asn others(5): Show p.Asn104fs	DYNLT3	ENSG00000165169.11	transcript	ENST00000378578.9	protein_coding	5/5	372/2151	311/351	104/116		chrX	TogoVar
DYNLT3_chrX_37833836_37852571	37841797	CT CT	C C	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0134 a0003c0005t0001g0134	1	324	0.0031	-1	c.180 others(4): Show c.180delA	p.Ala others(4): Show p.Ala61fs	DYNLT3	ENSG00000165169.11	transcript	ENST00000378578.9	protein_coding	3/5	241/2151	180/351	60/116		chrX	TogoVar
E4F1_chr16_2218591_2240742	2232797	CGGGAGTC others(90): Show CGGGAGTCGGGTGCACTGACCCGGCACCTCAAGTCTCTCACCCCCTGCAC AGAGAAAATCCGCTTCAGTGTGAGCAAGGACGTGGTTGTCAGCAAAGA	C C	frameshift_variant frameshift_variant	HIGH	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0003 a0006c0010t0001g0003	1	392	0.0026	-97	c.775 others(104): Show c.775_871delGAGTCGGGTGCACTGACCCGGCACCTCAAGTCTCTCAC CCCCTGCACAGAGAAAATCCGCTTCAGTGTGAGCAAGGACGTGGTTGTCA GCAAAGAGG	p.Glu others(5): Show p.Glu259fs	E4F1	ENSG00000167967.16	transcript	ENST00000301727.9	protein_coding	6/14	798/2548	775/2355	259/784	INFO_REALIGN_3_PRIME	chr16	TogoVar
EAF1_chr3_15422598_15447613	15434345	CAGAGCTG others(20): Show CAGAGCTGAGGGCAGCAGTAAAATCCAG	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0024 a0003c0008t0024	a0003c0008t0024g0106 a0003c0008t0024g0106	1	418	0.0024	-27	c.336 others(36): Show c.336-2_360delAGAGCTGAGGGCAGCAGTAAAATCCAG	p.Ala others(5): Show p.Ala113fs	EAF1	ENSG00000144597.14	transcript	ENST00000396842.7	protein_coding	4/6		336/807	112/268		chr3	TogoVar
EBLN1_chr10_22203475_22223015	22209293	T T	TTTGTCCT others(18): Show TTTGTCCTTTTTCGCTGACTACTTTA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG01070.hp1 HG01070.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0002 a0015c0015t0002	a0015c0015t0002g0065 a0015c0015t0002g0065	1	432	0.0023	25	c.690 others(32): Show c.690_691insTAAAGTAGTCAGCGAAAAAGGACAA	p.Lys others(5): Show p.Lys231fs	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	3/3	958/1777	690/1101	230/366		chr10	TogoVar
EBLN1_chr10_22203475_22223015	22209596	CAGTGAAG others(7): Show CAGTGAAGGTAGGCA	C C	frameshift_variant frameshift_variant	HIGH	HG01167.hp2 HG01167.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0062 a0009c0011t0002g0062	1	432	0.0023	-14	c.374 others(21): Show c.374_387delTGCCTACCTTCACT	p.Leu others(5): Show p.Leu125fs	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	3/3	655/1777	374/1101	125/366		chr10	TogoVar
EBLN1_chr10_22203475_22223015	22209726	GAATATAA others(7): Show GAATATAAAACACAA	G G	frameshift_variant frameshift_variant	HIGH	HG01167.hp2 HG01167.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0062 a0009c0011t0002g0062	1	432	0.0023	-14	c.244 others(21): Show c.244_257delTTGTGTTTTATATT	p.Leu others(4): Show p.Leu82fs	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	3/3	525/1777	244/1101	82/366		chr10	TogoVar
EBLN1_chr10_22203475_22223015	22209838	C C	CCAGGTGG others(6): Show CCAGGTGGGGTCAT	frameshift_variant frameshift_variant	HIGH	HG01167.hp2 HG01167.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0062 a0009c0011t0002g0062	1	432	0.0023	13	c.145 others(20): Show c.145_146insATGACCCCACCTG	p.Gly others(4): Show p.Gly49fs	EBLN1	ENSG00000223601.3	transcript	ENST00000422359.3	protein_coding	3/3	413/1777	145/1101	49/366		chr10	TogoVar
EBLN2_chr3_73056659_73068337	73062330	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show HG00099.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19089.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0002 a0002c0009 a0005c0006 others(1): Show a0002c0002 a0002c0009 a0005c0006 a0006c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(8): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0002t0023 a0002c0009t0003 a0005c0006t0002 a0006c0007t0002	a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 others(8): Show a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0009g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0002t0014g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0009t0003g0000 a0005c0006t0002g0000 a0006c0007t0002g0000	114	428	0.2664	1	c.250 others(4): Show c.250dupA	p.Arg others(4): Show p.Arg84fs	EBLN2	ENSG00000255423.1	transcript	ENST00000533473.1	protein_coding	1/1	674/1679	251/819	84/272	INFO_REALIGN_3_PRIME	chr3	TogoVar
EBPL_chr13_49655674_49696486	49691330	A A	AGGCGCAG others(6): Show AGGCGCAGGCCCAG	frameshift_variant frameshift_variant	HIGH	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0059 a0002c0004t0001g0059	1	410	0.0024	13	c.82_ others(18): Show c.82_94dupCTGGGCCTGCGCC	p.Leu others(4): Show p.Leu32fs	EBPL	ENSG00000123179.14	transcript	ENST00000242827.11	protein_coding	1/4	156/977	94/621	32/206		chr13	TogoVar
EBP_chrX_48516808_48533716	48524037	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18965.hp1 NA18965.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0045 a0005c0006t0005g0045	1	311	0.0032	1	c.268 others(4): Show c.268dupC	p.Leu others(4): Show p.Leu90fs	EBP	ENSG00000147155.11	transcript	ENST00000495186.6	protein_coding	2/5	442/1125	269/693	90/230	INFO_REALIGN_3_PRIME	chrX	TogoVar
EBP_chrX_48516808_48533716	48527004	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18968.hp2 NA18968.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0047 a0004c0007t0001g0047	1	311	0.0032	-1	c.320 others(4): Show c.320delG	p.Gly others(5): Show p.Gly107fs	EBP	ENSG00000147155.11	transcript	ENST00000495186.6	protein_coding	3/5	493/1125	320/693	107/230	INFO_REALIGN_3_PRIME	chrX	TogoVar
ECI1_chr16_2234402_2256587	2243081	GCAGTGCT others(12): Show GCAGTGCTCTGCACCTGCTC	G G	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0105 a0008c0011t0001g0105	1	436	0.0023	-19	c.688 others(26): Show c.688_706delGAGCAGGTGCAGAGCACTG	p.Glu others(5): Show p.Glu230fs	ECI1	ENSG00000167969.13	transcript	ENST00000301729.9	protein_coding	6/7	727/1507	688/909	230/302		chr16	TogoVar
EDA2R_chrX_66590637_66644078	66599550	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0082 a0005c0005t0015g0082	1	222	0.0045	-1	c.827 others(4): Show c.827delG	p.Gly others(5): Show p.Gly276fs	EDA2R	ENSG00000131080.15	transcript	ENST00000374719.8	protein_coding	6/7	921/3455	827/894	276/297		chrX	TogoVar
EDA2R_chrX_66590637_66644078	66599602	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA19006.hp1 NA19006.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0082 a0005c0005t0015g0082	1	222	0.0045	1	c.775 others(4): Show c.775dupC	p.Leu others(5): Show p.Leu259fs	EDA2R	ENSG00000131080.15	transcript	ENST00000374719.8	protein_coding	6/7	869/3455	775/894	259/297		chrX	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124791801	A A	AGCGCCAC others(4): Show AGCGCCACCGCC	frameshift_variant frameshift_variant	HIGH	NA18970.hp1 NA18970.hp1	a0007 a0007	a0007c0003 a0007c0003	a0007c0003t0002 a0007c0003t0002	a0007c0003t0002g0015 a0007c0003t0002g0015	1	358	0.0028	11	c.22_ others(16): Show c.22_32dupGGCGGTGGCGC	p.Ala others(4): Show p.Ala15fs	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	1/7	86/3599	32/876	11/291		chr10	TogoVar
EFCAB8_chr20_32853923_32966845	32878768	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01123.hp2 HG01975.hp2 HG02027.hp1 others(11): Show HG01123.hp2 HG01975.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp1 HG02970.hp2 HG03471.hp1 HG04115.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18998.hp1 NA19030.hp2 NA19068.hp2	a0005 a0029 a0005 a0029	a0005c0008 a0005c0013 a0005c0033 others(5): Show a0005c0008 a0005c0013 a0005c0033 a0005c0034 a0005c0035 a0005c0036 a0005c0037 a0029c0059	a0005c0008t0001 a0005c0008t0002 a0005c0008t0004 others(9): Show a0005c0008t0001 a0005c0008t0002 a0005c0008t0004 a0005c0013t0001 a0005c0013t0002 a0005c0013t0004 a0005c0033t0008 a0005c0034t0002 a0005c0035t0001 a0005c0036t0004 a0005c0037t0004 a0029c0059t0003	a0005c0008t0001g0002 a0005c0008t0001g0063 a0005c0008t0001g0214 others(11): Show a0005c0008t0001g0002 a0005c0008t0001g0063 a0005c0008t0001g0214 a0005c0008t0002g0050 a0005c0008t0004g0205 a0005c0013t0001g0200 a0005c0013t0002g0024 a0005c0013t0004g0097 a0005c0033t0008g0113 a0005c0034t0002g0031 a0005c0035t0001g0095 a0005c0036t0004g0180 a0005c0037t0004g0183 a0029c0059t0003g0071	14	284	0.0493	1	c.394 others(4): Show c.394dupC	p.Arg others(5): Show p.Arg132fs	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	5/27	489/4197	395/3867	132/1288	INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHB_chr3_19874472_19939217	19905655	CATGGCTC others(5159): Show CATGGCTCGTCCATCATTAAAATGTGGTGTTGGTACTCCATACACACTAC ACCTATGGAAACTTGATGGGTTATACTTTCGGTTCTTTGCCTCTCCTGTG GAAAAAGAAAGGAAGACTTATGACTTAAGCAACACGAATAACCTTATCAT GCAAGATGCACACTATGTTCTCATTGACATTGAAAATGAGAATGGAACAA AAAATGAAATTGTAACAGTGCAGAAACTGCACAGATTTAGCTACAGATGA CAGAAGCATTCCCCCATGTGAGCTGGGAGACTGGTGGGATGCTACACACA ACAATACGTTGTGTTAATATTTGAAAAGACATATGTAAAAAACTCCAAAG ACTCCATCAAAAAACTGTTAGAACTAATGAATTTGGCTGGGCACAGTAGC TCATGCCTGTAATCCCAGCACTTTGTGAGGCCGAGACTGGTGGATCACTT GAGGCCAGGAGTTCGAGACCAGTTCACCAGTCTGGCCAACATGGTGAAAC CGTGTCTTCTCTAAAAATTCAAAAATTAGCTGGTCATGATGGCATGCACC TGTAATCCCAGCTACTTCGGAGGCTGAGGCACGAGAATCGCTTGAACCCA GGAGGCGGAGGTTGTGGTAAGCCAAGATCGTGCCACTGCACTCCAGCCTG GGCAACAGAGTGAGGCTCTTTCTCAAAAAACAAAAGAACTAATAAGTGAA TTAAGTAAAGTCAAAGAATACAAAATCAACACATAAAAGTCCATGGCATT TCTATAAAAAATAACAACCTAGACAAAAAAGAAATCAAGAAAATAATTCA ATTTATGATAGCATAAAAAAATACTTAGGAATAAACTTAACCAAGGGGGT AAAAGACCTGTACACTGAAAACTATAAAACAATGATGAAAGAAATTGAAG AGGACACAAATAAAATGAAGATATTCATTCCATGCTCATTGATCAGAATA ATTAATTTTCTTAAAATGTTCATACTACCCAAAGCAAAATGCAGATTCAA TGTGATCCCTATCAAAATTCCAATAGCATTCTTCACAGAAATAGAAAAAA AAAAATCTTAAAAATTTATATAGAACCACAAAAGGCTCTGAATAGCCAAA GTAATTATTAGGAAAAAGAAAAAAGTTAGAGGCATCACACATCCTAAATT TAAATTATATTACAGAGCTGTAGTAATTAGAACAGTATGGTACTGGCATA AAAACAGACATACAGGCTAGTGGAACAGAATGGAGAGCCCAGAAATAAAT CCAAACATATACAATACACTAATTTTCAACAAGGGCAGCAAGAAGAAATG ACGACACAAGGATAGTCTCTTCAATAAATGGTCCTGGGAAACCTGATTTC CACATGCAACACCATACACAAAAATCAACTAAAAATAGATTAAAAAAAAA AAACTAAACGTTAAGACCTGAAACCATAAAACTCATAGAAGAAAAAATAG AGGAAAAACTTATTGACATTGGCCTTGGCAATGATGTCTTAGATACAAAA GCTCAGACTACAAAAGCAAAAATAAATAAATGAGACTACATCAAATTAAA AACCTTCTGCATAGCAAAGGAAACAATCACCAAAATGAAAAGGCAACCTA TGAGTTGGGAAAAAAATATTTGCAAACTATGTATCTGATAGAGGGTTAAT ATTCAAAATTTATAGAAAATATGTAGCTCAATTCTTAAAATGGGTGAAGA ACTTTAATATTTAGAAAGTAAGTAAGGACATTGTATGGGAAAAAGAGATA TCAATGATGAAAAACTGCAGGGTCTCCACCATTGTTATGGAAATCCTGAA GATCAAGGGAGGTATGGCAATGATTTAGGTCTCTGGCAGCACTTTCCACT ATGCTAAGATTTGAGAGGTTTGGTGTTTTGCACTTGTTCTCACTGAGATT TGGTGCGATCATCAGAACATTGCGACCCTCATATTTCATTTACCTCATAT TAGAAACATTCAAAGGGTGATTGAGAGCTGAGAAACCAACAGAGGAGTCT TTTTATTTAAAACTGAATACTGTGCTTTTTTCTTTTCAAGTCTTGATGTG GTATTAGTTTTCTATTTCGAGATAAGAAAGTAGGACTGAAACTAGAGAAC AACCAAGAGGGTAAGAAATGTTGGAGTAAAGATATTCAGCCTCACTAGTA ACTCAAATAATGTAAATAAAAACAGTAAATGTCTTGTTATTGAAGTAACA AGAAATTATAATTGTCTCTTAGTTAAGCAAAAATAAAGAAGATTGGCTGA GCTCATTATTGGGAAGGGTGTGGAGAAATGGATATTCTCATACTCTGGGT CTAAGGGCAAATTGGGCAGTAATTTGAGCTGACAGTTTGGCTCTAAAAGT AAAAATTTCTCAGAAATCTAGGAATGTAACTTAAGGAAATAGCCAATCAC ATTTACAAAGGTATATCAACAATATGTTTTTGTAATAGTGAAAATATAAT GTAGATACTGACATGAAAAGACATTCCAAAATATTTCATAAGACAAAAAA AGCAAAAGGAAAAATGTATATATGATGTGGAACAAAATGAACATACATAC TGATATATACAAAAGTGCAAAGAAAAACATCTATGAACATATTATCGGCT GGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAGGCA GATGGATCGCCTGAGATTAGAAGTTCGAGACCAGCCTGACCAACACGGTG AAACCCAGTCTCTACTAAAAATACAGAAATTAGCCAGGCATGGTGGCGGG CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCAGGCCACTTCACTCCAG CCTGGACGAAAGAGCAAAACTCCGTCTCAAAAAAAGAAAGAAAGAGAGAA AGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGTTCTGTGTGAGATAGAGAATTGTGGGAATTTTTTGTATATTG TATATTTCTGTATAGCTTTCATTTTATAAAAGTATCTATCACTTTAGTAA TGATTAAAATTAAGTTATTTTAAAGTATTAAGTGTATTTTAAATGTTGTA GGTCCATATTTATTGCTATCTACATATTATTTAAGTAAAAAATTTAAAAT ATATAGAGCAGGCTCCCTAAAAGCATGGAGAGTATTATCCCATTTATTTA ATGATTAATGATTTAATGGCTGAATGGATGGGGGTTAGAAAAAATGTTCA GAGAGAGGAAGTGGAGCAAGACGGCAGAATAGAAAGCTCCACTGATCATG TCCCAGTCCCGTGTCCCAGACCCACACCCGCCCCCCACCCCCTACAAGGA CCAAGTTGACAACTATCTACACAGATATGAGTGCCCATCTCAAAAATCAG GTGGGCAACTCATAGTACTTGATTTTAACTTCATAGCACTGAAAAAAAAA AGGCACTCAAGAGATAGAAAAAATAGTTTTGAATCACAGACACCACCCCT CCCCAACCCCGGCAGCAGCAGAGTGATGGGCAGAGCTTCTCCTGGCACCA GGGCAGGGAGAACACAGCAATTGTGAGGTATCAAACTCAGTGCTTTCCTG TTAGAGCAGAATGGAAAACTGAACCAAACTCAGCTGATGCCCGTCCCCAG AGGCAGCATTTAAATCAGCCCCACCAGAAAAGGAATTGCCAATCCCAGTA GTCCAAACTTGAGTGCCTGCAAACCTCGCCACCAAGGGCTACAGCACTCT GTGTCTCCAAGTAACCTTGAAAGGCAGTCTAGGCCATAAGGACTGGAACT CTTAGGCGACTCCCAGAGCAGAACCAGGCCCAGAGACAGTGGACTGGGGG TGGGGTAGGTGGTGGGATACATGTCATACTGGGACACCAGCTGGGGCAGC CAAGGGAATGCTGGCATCACCCCTCCCTTAACCCCAGGCTGCACAGCTCC GCTCATGGCTCCAAAAGGGACCCCTTCCTTCCGCTTGAGGAGAGGAGAGG GAAGAGCAGGGAAGACTTCACCTTGCATCTAGGACACCACCTCAGCCACA GCAAGATAGGGCACTGTGGGACTCAGGAGGCCGCCATTCCAGGCCCTGGT TTGCAGATGACGTTTCTAGACACATCCGGGGCCAAAAGGATGTGTCTTTC CTTCACTGCCTTGAAGGAAAGAACCCAATCCTGGCAGCATTCATCACCTG CTAACCGAAGAGCTCTTGGGCCCTGAATAACCAGCTGCAGTTATTCAGGG CCCAGGTAGTATATCAAGGGCCTTGGGTAAGCCTCTGAGACTTCCTGGCT TCAGAAGAGACTTAGCACATTACCAGCTGTGGTAGCTACAGAGCAAAACT CCTTCTGCTTGAGAAAAGTAGAGGGAAAAGTAAGGGGAACTTTGTCCTAC ACCTTGGGTACCAGCATGGCCACAGGGGAGCAGAGCACGAAGCAGGCTCT TAGGGTTCCTGATTCCAGGACTTGGCTCTTGAATAGCATTTCTAGACCTG CTCTGGGCCATAGAGGAATCCACTTCCCTGAAGGGTAAGTCCCAGGCCAT TAACTTCAAGCTGACTTAAGAGACCTTGGGCCTTAAGAGAACATTGGTGG TAGTCTGGCAGTATTCCTCATGGCCTGGGGTGGCGGTGGCTACCCAGTGA GGTTCCTCTGTCTTTGGGAGGGGGAGGGAAGAGTGGGAAAGACTGTATCT TGTGGTTTGAGTGCCAGCTCAGCTGCAATACAGTAGAATACCTGGTAGAC GTCTAAAATTTTTGACTCTAGTCCTTGACTCCCAGACAGTACTTCTGTAC CCACCCAGGGCCTGGGGGACCTCACCACCCTGAAGGGAAGGACACAGGCC TGGCTGGCTTTACCACCTGTTAATTGTAGAGCCCCAGGACCTTGAGTGAA CGTAGGCTGCAGCCAGAGGTTGAGTACAGCAGGACTTGGGTGAGACCAAA TGCTACACTAGCTTCAAGTCTGATCCAATACAGTCAGCAGTGGTGGCCAC AGGGGTACTTGTGTCACTCAACCCCCAGCTTTAGGTGGCTCAGAACCGAG AGAAAGACTGTATGTTTAGGAGAAAGTAAAGGAAAAGAACATGAGCCTCT GCCTTGTAACCCAGGGA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03831.hp2 HG03831.hp2	a0025 a0025	a0025c0037 a0025c0037	a0025c0037t0001 a0025c0037t0001	a0025c0037t0001g0136 a0025c0037t0001g0136	1	344	0.0029	-5166	c.128 others(14): Show c.1288+4482_1382del	p.Glu others(5): Show p.Glu431fs	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	6/13	1581/2860	1289/2502	430/833		chr3	TogoVar
EFHC2_chrX_44142872_44348672	44148820	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0023 a0013c0014t0023	a0013c0014t0023g0191 a0013c0014t0023g0191	1	221	0.0045	-1	c.222 others(5): Show c.2224delG	p.Asp others(5): Show p.Asp742fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	15/15	2308/3257	2224/2250	742/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44235413	C C	CA CA	frameshift_variant frameshift_variant	HIGH	NA19067.hp1 NA19067.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0003 a0012c0016t0003	a0012c0016t0003g0182 a0012c0016t0003g0182	1	221	0.0045	1	c.131 others(5): Show c.1314dupT	p.Ala others(5): Show p.Ala439fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	9/15	1398/3257	1314/2250	438/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44242149	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	-1	c.125 others(5): Show c.1251delG	p.Asn others(5): Show p.Asn418fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	8/15	1335/3257	1251/2250	417/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44248356	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	1	c.102 others(5): Show c.1026dupC	p.Thr others(5): Show p.Thr343fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	7/15	1110/3257	1026/2250	342/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44248892	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	-1	c.882 others(4): Show c.882delA	p.Gln others(5): Show p.Gln294fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	6/15	966/3257	882/2250	294/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44248908	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	1	c.866 others(4): Show c.866dupC	p.Pro others(5): Show p.Pro290fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	6/15	950/3257	866/2250	289/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44250277	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	1	c.774 others(4): Show c.774dupT	p.Thr others(5): Show p.Thr259fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	5/15	858/3257	774/2250	258/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44250384	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	-1	c.667 others(4): Show c.667delC	p.Leu others(5): Show p.Leu223fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	5/15	751/3257	667/2250	223/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44250442	CA CA	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	-1	c.609 others(4): Show c.609delT	p.Val others(5): Show p.Val204fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	5/15	693/3257	609/2250	203/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44343553	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18967.hp1 NA18967.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0014 a0009c0011t0014	a0009c0011t0014g0002 a0009c0011t0014g0002	1	221	0.0045	1	c.35d others(3): Show c.35dupA	p.Asn others(4): Show p.Asn12fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	1/15	119/3257	35/2250	12/749		chrX	TogoVar
EFNB1_chrX_68824021_68847160	68838647	T T	TCC TCC	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	2	c.160 others(9): Show c.160_161dupCC	p.Lys others(4): Show p.Lys55fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	2/5	918/3303	162/1041	54/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68838805	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	-1	c.319 others(4): Show c.319delG	p.Glu others(5): Show p.Glu107fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	2/5	1075/3303	319/1041	107/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840269	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0053 a0004c0005t0025g0053	1	335	0.0030	-1	c.659 others(4): Show c.659delC	p.Pro others(5): Show p.Pro220fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1415/3303	659/1041	220/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840282	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	1	c.674 others(4): Show c.674dupG	p.Ser others(5): Show p.Ser226fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1431/3303	675/1041	225/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840319	TC TC	T T	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0053 a0004c0005t0025g0053	1	335	0.0030	-1	c.708 others(4): Show c.708delC	p.Lys others(5): Show p.Lys237fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1464/3303	708/1041	236/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840344	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	1	c.732 others(4): Show c.732dupC	p.Gly others(5): Show p.Gly245fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1489/3303	733/1041	245/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840452	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	1	c.839 others(8): Show c.839_840insA	p.Ser others(5): Show p.Ser281fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1596/3303	840/1041	280/346		chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840479	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18954.hp1 NA18954.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0034 a0003c0006t0001g0034	1	335	0.0030	1	c.872 others(4): Show c.872dupG	p.Ser others(5): Show p.Ser292fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1629/3303	873/1041	291/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840481	G G	GT GT	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	1	c.868 others(8): Show c.868_869insT	p.Gly others(5): Show p.Gly290fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1625/3303	869/1041	290/346		chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840505	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	1	c.893 others(4): Show c.893dupA	p.Pro others(5): Show p.Pro299fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1650/3303	894/1041	298/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840513	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0053 a0004c0005t0025g0053	1	335	0.0030	1	c.901 others(4): Show c.901dupG	p.Asp others(5): Show p.Asp301fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1658/3303	902/1041	301/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840569	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	1	c.958 others(4): Show c.958dupG	p.Val others(5): Show p.Val320fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1715/3303	959/1041	320/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB1_chrX_68824021_68847160	68840583	T T	TA TA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA19075.hp1 NA19075.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0053 a0004c0005t0025g0053	1	335	0.0030	1	c.971 others(4): Show c.971dupA	p.Tyr others(5): Show p.Tyr324fs	EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	5/5	1728/3303	972/1041	324/346	INFO_REALIGN_3_PRIME	chrX	TogoVar
EFNB3_chr17_7700202_7716372	7705698	T T	TACTGGAA others(4): Show TACTGGAACTCG	frameshift_variant frameshift_variant	HIGH	NA18957.hp2 NA18957.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0008 a0004c0006t0003g0008	1	434	0.0023	11	c.101 others(18): Show c.101_111dupACTGGAACTCG	p.Ala others(4): Show p.Ala38fs	EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding	1/5	509/3216	112/1023	38/340	INFO_REALIGN_3_PRIME	chr17	TogoVar
EGFL6_chrX_13564601_13638575	13617826	A A	AAG AAG	frameshift_variant frameshift_variant	HIGH	NA18949.hp2 NA18949.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0003 a0008c0017t0003	a0008c0017t0003g0296 a0008c0017t0003g0296	1	302	0.0033	2	c.875 others(9): Show c.875_876insAG	p.Lys others(5): Show p.Lys293fs	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	8/12	1137/2403	876/1662	292/553		chrX	TogoVar

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Search Results (Total: 5828 hits)