Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TMEM40_chr3_12728528_12764259	12755148	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	344	0.0029	-10	c.-9+ others(25): Show c.-9+4033_-9+4042delGAAAGAAAGA	TMEM40	ENSG00000088726.16	transcript	ENST00000314124.12	protein_coding	1/11			chr3	TogoVar
TMEM41B_chr11_9275654_9319593	9294180	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0229 a0001c0009t0004g0229	1	370	0.0027	-10	c.368 others(27): Show c.368+1069_368+1078delTTTTTTTTTT	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	3/6			chr11	TogoVar
TMEM41B_chr11_9275654_9319593	9299282	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19030.hp1 HG01943.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0275 a0001c0005t0004g0306 a0001c0005t0004g0275 a0001c0005t0004g0306	2	370	0.0054	-10	c.239 others(25): Show c.239+292_239+301delTTTTTTTTTT	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	2/6			chr11	TogoVar
TMEM41B_chr11_9275654_9319593	9312903	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	370	0.0027	-10	c.121 others(27): Show c.121+1408_121+1417delTTTTTTTTTT	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	1/6			chr11	TogoVar
TMEM43_chr3_14120052_14148680	14123699	CTTCATGA others(3): Show CTTCATGAGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0004 a0001c0001t0023g0004	1	406	0.0025	-10	c.-14 others(21): Show c.-1494_-1485delTTCATGAGTA	TMEM43	ENSG00000170876.8	transcript	ENST00000306077.5	protein_coding		1352		chr3	TogoVar
TMEM45A_chr3_100487619_100582444	100490643	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG02109.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0142 a0001c0003t0003g0161 a0001c0003t0003g0142 a0001c0003t0003g0161	2	322	0.0062	-10	c.-22 others(21): Show c.-2288_-2279delTTTTTTTTTT	TMEM45A	ENSG00000181458.10	transcript	ENST00000323523.8	protein_coding		1975		chr3	TogoVar
TMEM45B_chr11_129810848_129865003	129810900	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02615.hp1 others(2): Show HG01891.hp2 HG02055.hp1 HG02615.hp1 HG02976.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0018 a0002c0002t0006g0299 a0002c0002t0006g0300 others(1): Show a0002c0002t0006g0018 a0002c0002t0006g0299 a0002c0002t0006g0300 a0002c0002t0006g0301	5	404	0.0124	-10	c.-50 others(21): Show c.-5006_-4997delAAAAAAAAAA	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding		4947		chr11	TogoVar
TMEM45B_chr11_129810848_129865003	129812479	TACATACA others(3): Show TACATACATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	404	0.0025	-10	c.-34 others(21): Show c.-3427_-3418delACATACATAC	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding		3368		chr11	TogoVar
TMEM45B_chr11_129810848_129865003	129845337	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0105 a0001c0003t0003g0105	1	404	0.0025	-10	c.-8- others(25): Show c.-8-7116_-8-7107delGTGTGTGTGT	TMEM45B	ENSG00000151715.8	transcript	ENST00000281441.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM50A_chr1_25333334_25367361	25351164	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	380	0.0053	-10	c.207 others(25): Show c.207-453_207-444delAAAAAAAAAA	TMEM50A	ENSG00000183726.11	transcript	ENST00000374358.5	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM50A_chr1_25333334_25367361	25357528	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	380	0.0026	-10	c.428 others(25): Show c.428+700_428+709delGTGTGTGTGT	TMEM50A	ENSG00000183726.11	transcript	ENST00000374358.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
TMEM50A_chr1_25333334_25367361	25361058	TGAAGATT others(3): Show TGAAGATTTAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0002 a0001c0001t0020g0002	1	380	0.0026	-10	c.35 others(19): Show c.354_*363delGAAGATTTAA	TMEM50A	ENSG00000183726.11	transcript	ENST00000374358.5	protein_coding	7/7	354		chr1	TogoVar
TMEM50B_chr21_33444141_33484974	33446653	CACAAAAA others(3): Show CACAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18967.hp2 NA19070.hp1 others(1): Show NA18947.hp2 NA18967.hp2 NA19070.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0171 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0171 a0001c0001t0001g0217 a0001c0001t0001g0223	4	379	0.0106	-10	c.41 others(21): Show c.4155_*4164delTTTTTTTTGT	TMEM50B	ENSG00000142188.17	transcript	ENST00000542230.7	protein_coding		2487		chr21	TogoVar
TMEM50B_chr21_33444141_33484974	33447713	CACACACA others(3): Show CACACACATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00733.hp2 others(13): Show HG00280.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG02015.hp1 HG02486.hp2 HG02630.hp1 HG02683.hp2 HG02965.hp2 HG03017.hp1 HG03209.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0001 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0016 a0001c0001t0001g0126 a0001c0001t0001g0162 others(11): Show a0001c0001t0001g0016 a0001c0001t0001g0126 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0269 a0001c0001t0005g0003 a0001c0001t0007g0040 a0001c0001t0007g0172 a0001c0001t0007g0219	16	379	0.0422	-10	c.30 others(21): Show c.3095_*3104delATATGTGTGT	TMEM50B	ENSG00000142188.17	transcript	ENST00000542230.7	protein_coding		1427		chr21	TogoVar
TMEM50B_chr21_33444141_33484974	33449118	TCCAACAA others(3): Show TCCAACAAACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0238 a0001c0001t0015g0238	1	379	0.0026	-10	c.16 others(21): Show c.1690_*1699delTGTTTGTTGG	TMEM50B	ENSG00000142188.17	transcript	ENST00000542230.7	protein_coding		22		chr21	TogoVar
TMEM52B_chr12_10174032_10196804	10177805	ATAATAAT others(3): Show ATAATAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01993.hp2 others(16): Show HG01167.hp2 HG01169.hp2 HG01993.hp2 HG02145.hp1 HG02486.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0020 a0001c0001t0023 a0003c0007t0010	a0001c0001t0001g0092 a0001c0001t0001g0167 a0001c0001t0005g0011 others(16): Show a0001c0001t0001g0092 a0001c0001t0001g0167 a0001c0001t0005g0011 a0001c0001t0006g0058 a0001c0001t0006g0061 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0190 a0001c0001t0008g0077 a0001c0001t0008g0078 a0001c0001t0008g0079 a0001c0001t0010g0029 a0001c0001t0010g0087 a0001c0001t0015g0059 a0001c0001t0020g0191 a0001c0001t0023g0060 a0003c0007t0010g0029	19	430	0.0442	-10	c.-17 others(21): Show c.-1769_-1760delTAATAATAAT	TMEM52B	ENSG00000165685.9	transcript	ENST00000543484.2	protein_coding		1226		chr12	TogoVar
TMEM52B_chr12_10174032_10196804	10188535	AGGAAAAG others(3): Show AGGAAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02615.hp2 HG02809.hp1 others(4): Show HG01993.hp2 HG02615.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0074 a0001c0001t0004g0066 a0001c0001t0007g0186 others(4): Show a0001c0001t0001g0074 a0001c0001t0004g0066 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0007g0188 a0001c0001t0007g0189 a0001c0001t0007g0190	7	430	0.0163	-10	c.308 others(27): Show c.308-1360_308-1351delGGAAAAGAAG	TMEM52B	ENSG00000165685.9	transcript	ENST00000543484.2	protein_coding	4/4			chr12	TogoVar
TMEM52B_chr12_10174032_10196804	10189016	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03209.hp1 HG03225.hp2 others(1): Show HG02486.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010	a0001c0001t0006g0028 a0001c0001t0009g0159 a0001c0001t0010g0087 a0001c0001t0006g0028 a0001c0001t0009g0159 a0001c0001t0010g0087	4	430	0.0093	-10	c.308 others(25): Show c.308-854_308-845delAAAAAAAAAA	TMEM52B	ENSG00000165685.9	transcript	ENST00000543484.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM52_chr1_1912591_1924279	1919944	TCGCAGGC others(3): Show TCGCAGGCGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	364	0.0028	-10	c.-68 others(19): Show c.-689_-680delCCCGCCTGCG	TMEM52	ENSG00000178821.13	transcript	ENST00000310991.8	protein_coding		666		chr1	TogoVar
TMEM53_chr1_44648247_44679481	44665917	CAAAAAAA others(3): Show CAAAAAAAGTG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0091 a0001c0001t0014g0091	1	336	0.0030	-10	c.62- others(25): Show c.62-5632_62-5623delCACTTTTTTT	TMEM53	ENSG00000126106.14	transcript	ENST00000372237.8	protein_coding	1/2			chr1	TogoVar
TMEM59L_chr19_18607870_18626039	18618646	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	408	0.0025	-10	c.900 others(25): Show c.900+173_900+182delGTGTGTGTGT	TMEM59L	ENSG00000105696.9	transcript	ENST00000262817.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM59L_chr19_18607870_18626039	18618667	GTGTGTGT others(3): Show GTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	408	0.0025	-10	c.900 others(25): Show c.900+177_900+186delGTGTGTATAT	TMEM59L	ENSG00000105696.9	transcript	ENST00000262817.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM59L_chr19_18607870_18626039	18619973	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	408	0.0025	-10	c.901 others(25): Show c.901-396_901-387delCACACACACA	TMEM59L	ENSG00000105696.9	transcript	ENST00000262817.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM59_chr1_54021681_54058204	54025863	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01934.hp1 others(2): Show HG01256.hp2 HG01258.hp2 HG01934.hp1 NA18612.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0001 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0051 a0001c0001t0001g0183 a0001c0001t0007g0036 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0183 a0001c0001t0007g0036 a0001c0001t0012g0146	5	362	0.0138	-10	c.62 others(21): Show c.6277_*6286delAAAAAAAAAA	TMEM59	ENSG00000116209.12	transcript	ENST00000234831.10	protein_coding		817		chr1	TogoVar
TMEM59_chr1_54021681_54058204	54056294	ATTCTTTT others(3): Show ATTCTTTTCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18960.hp2 NA18972.hp2 NA18954.hp2 NA18960.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0115	3	362	0.0083	-10	c.-31 others(21): Show c.-3116_-3107delAAGAAAAGAA	TMEM59	ENSG00000116209.12	transcript	ENST00000234831.10	protein_coding		3091		chr1	TogoVar
TMEM61_chr1_54975628_54997288	54979930	GCACACAC others(3): Show GCACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	436	0.0023	-10	c.-11 others(21): Show c.-1135_-1126delCACACACACA	TMEM61	ENSG00000143001.5	transcript	ENST00000371268.4	protein_coding		697		chr1	TogoVar
TMEM62_chr15_43128586_43190144	43153658	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	344	0.0029	-10	c.102 others(27): Show c.1023-994_1023-985delGTGTGTGTGT	TMEM62	ENSG00000137842.7	transcript	ENST00000260403.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM62_chr15_43128586_43190144	43171630	TTTTTTGT others(3): Show TTTTTTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	344	0.0029	-10	c.138 others(29): Show c.1381+1955_1381+1964delTTTTGTGTGT	TMEM62	ENSG00000137842.7	transcript	ENST00000260403.7	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMEM63A_chr1_225840536_225887380	225854141	CGTGCAGA others(3): Show CGTGCAGAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(172): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0009 a0014 a0018	a0001c0001 a0001c0002 a0001c0014 others(5): Show a0001c0001 a0001c0002 a0001c0014 a0003c0005 a0005c0008 a0009c0018 a0014c0027 a0018c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0002t0001 a0001c0014t0004 a0003c0005t0001 a0003c0005t0015 a0003c0005t0016 a0005c0008t0001 a0009c0018t0001 a0014c0027t0008 a0018c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(159): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0122 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0351 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0002g0014 a0001c0001t0002g0177 a0001c0001t0002g0211 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0250 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0289 a0001c0001t0005g0198 a0001c0001t0008g0158 a0001c0001t0008g0160 a0001c0001t0008g0164 a0001c0001t0008g0166 a0001c0001t0010g0015 a0001c0001t0010g0223 a0001c0001t0012g0019 a0001c0001t0012g0273 a0001c0001t0017g0150 a0001c0002t0001g0262 a0001c0014t0004g0261 a0003c0005t0001g0013 a0003c0005t0001g0123 a0003c0005t0001g0151 a0003c0005t0001g0185 a0003c0005t0001g0188 a0003c0005t0001g0189 a0003c0005t0001g0199 a0003c0005t0001g0200 a0003c0005t0001g0201 a0003c0005t0001g0203 a0003c0005t0001g0204 a0003c0005t0001g0205 a0003c0005t0001g0206 a0003c0005t0001g0207 a0003c0005t0001g0208 a0003c0005t0001g0209 a0003c0005t0001g0210 a0003c0005t0001g0232 a0003c0005t0001g0241 a0003c0005t0001g0242 a0003c0005t0001g0243 a0003c0005t0001g0244 a0003c0005t0001g0247 a0003c0005t0001g0248 a0003c0005t0001g0251 a0003c0005t0001g0252 a0003c0005t0001g0277 a0003c0005t0001g0278 a0003c0005t0001g0279 a0003c0005t0001g0280 a0003c0005t0001g0281 a0003c0005t0001g0286 a0003c0005t0001g0288 a0003c0005t0001g0293 a0003c0005t0015g0249 a0003c0005t0016g0282 a0005c0008t0001g0018 a0005c0008t0001g0156 a0005c0008t0001g0186 a0005c0008t0001g0202 a0005c0008t0001g0219 a0005c0008t0001g0229 a0005c0008t0001g0230 a0005c0008t0001g0237 a0005c0008t0001g0263 a0009c0018t0001g0157 a0014c0027t0008g0170 a0018c0013t0001g0194	175	426	0.4108	-10	c.163 others(27): Show c.1635-360_1635-351delATTTCTGCAC	TMEM63A	ENSG00000196187.12	transcript	ENST00000366835.8	protein_coding	18/24			chr1	TogoVar
TMEM63A_chr1_225840536_225887380	225858948	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(30): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00741.hp2 HG01071.hp2 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18954.hp1 NA18969.hp1 NA18970.hp1 NA18987.hp1 NA18999.hp2 NA19058.hp1 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19089.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005 a0004c0007 a0011c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0002t0003 a0001c0004t0004 a0002c0003t0002 a0003c0005t0001 a0004c0007t0001 a0011c0028t0018	a0001c0001t0001g0153 a0001c0001t0001g0173 a0001c0001t0001g0178 others(29): Show a0001c0001t0001g0153 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0268 a0001c0001t0001g0287 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0010g0015 a0001c0001t0010g0223 a0001c0001t0013g0033 a0001c0002t0003g0312 a0001c0002t0003g0314 a0001c0002t0003g0318 a0001c0002t0003g0319 a0001c0002t0003g0340 a0001c0004t0004g0370 a0002c0003t0002g0040 a0002c0003t0002g0049 a0002c0003t0002g0051 a0002c0003t0002g0059 a0002c0003t0002g0085 a0002c0003t0002g0094 a0003c0005t0001g0151 a0003c0005t0001g0288 a0004c0007t0001g0297 a0011c0028t0018g0025	33	426	0.0775	-10	c.137 others(27): Show c.1377+238_1377+247delCACACACACA	TMEM63A	ENSG00000196187.12	transcript	ENST00000366835.8	protein_coding	15/24			chr1	TogoVar
TMEM63A_chr1_225840536_225887380	225876063	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01256.hp1 HG01258.hp2 others(11): Show HG01106.hp1 HG01256.hp1 HG01258.hp2 HG02257.hp1 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp2 NA18995.hp2 NA18999.hp1 NA19043.hp1 NA19060.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0001c0019 a0004c0007 a0001c0004 a0001c0019 a0004c0007	a0001c0004t0004 a0001c0019t0001 a0004c0007t0001 a0001c0004t0004 a0001c0019t0001 a0004c0007t0001	a0001c0004t0004g0024 a0001c0004t0004g0380 a0001c0019t0001g0296 others(9): Show a0001c0004t0004g0024 a0001c0004t0004g0380 a0001c0019t0001g0296 a0004c0007t0001g0020 a0004c0007t0001g0028 a0004c0007t0001g0029 a0004c0007t0001g0030 a0004c0007t0001g0297 a0004c0007t0001g0298 a0004c0007t0001g0299 a0004c0007t0001g0301 a0004c0007t0001g0302	14	426	0.0329	-10	c.186 others(27): Show c.186+1322_186+1331delTTTTTTTTTT	TMEM63A	ENSG00000196187.12	transcript	ENST00000366835.8	protein_coding	3/24			chr1	TogoVar
TMEM63A_chr1_225840536_225887380	225877109	GCTCTGCA others(3): Show GCTCTGCAATC	G G	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	426	0.0024	-10	c.186 others(25): Show c.186+276_186+285delGATTGCAGAG	TMEM63A	ENSG00000196187.12	transcript	ENST00000366835.8	protein_coding	3/24			chr1	TogoVar
TMEM63A_chr1_225840536_225887380	225878885	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01256.hp1 HG01258.hp2 others(12): Show HG01106.hp1 HG01256.hp1 HG01258.hp2 HG02257.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG04115.hp1 NA19043.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0019 others(1): Show a0001c0001 a0001c0002 a0001c0019 a0004c0007	a0001c0001t0001 a0001c0002t0005 a0001c0019t0001 others(1): Show a0001c0001t0001 a0001c0002t0005 a0001c0019t0001 a0004c0007t0001	a0001c0001t0001g0184 a0001c0002t0005g0034 a0001c0019t0001g0296 others(11): Show a0001c0001t0001g0184 a0001c0002t0005g0034 a0001c0019t0001g0296 a0004c0007t0001g0020 a0004c0007t0001g0028 a0004c0007t0001g0029 a0004c0007t0001g0030 a0004c0007t0001g0295 a0004c0007t0001g0297 a0004c0007t0001g0298 a0004c0007t0001g0299 a0004c0007t0001g0300 a0004c0007t0001g0301 a0004c0007t0001g0302	15	426	0.0352	-10	c.-15 others(25): Show c.-15+325_-15+334delGTGTGTGTGT	TMEM63A	ENSG00000196187.12	transcript	ENST00000366835.8	protein_coding	2/24			chr1	TogoVar
TMEM63A_chr1_225840536_225887380	225882938	AAAAATGT others(3): Show AAAAATGTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0155 a0001c0006t0005g0155	1	426	0.0024	-10	c.-85 others(19): Show c.-850_-841delCCCACATTTT	TMEM63A	ENSG00000196187.12	transcript	ENST00000366835.8	protein_coding		559		chr1	TogoVar
TMEM63C_chr14_77176798_77264495	77179149	TCCTTTCT others(3): Show TCCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01496.hp2 HG02897.hp1 others(4): Show HG01358.hp1 HG01496.hp2 HG02897.hp1 HG04115.hp2 NA18948.hp1 NA18962.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0038 a0002c0009t0007	a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0176 others(4): Show a0001c0001t0001g0135 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0007g0138 a0001c0001t0013g0166 a0001c0001t0038g0267 a0002c0009t0007g0161	7	322	0.0217	-10	c.-28 others(21): Show c.-2821_-2812delCCTTTCTTTC	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding		2648		chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77179151	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01433.hp1 HG03139.hp2 others(2): Show HG01109.hp2 HG01433.hp1 HG03139.hp2 NA18906.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0028	a0001c0001t0001g0167 a0001c0001t0002g0098 a0001c0001t0002g0184 others(2): Show a0001c0001t0001g0167 a0001c0001t0002g0098 a0001c0001t0002g0184 a0001c0001t0011g0260 a0001c0001t0028g0088	5	322	0.0155	-10	c.-28 others(21): Show c.-2819_-2810delTTTCTTTCTT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding		2646		chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77191538	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01071.hp1 HG01168.hp1 others(8): Show HG00733.hp2 HG01071.hp1 HG01168.hp1 HG01257.hp1 HG01261.hp1 HG01928.hp1 HG01993.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0006t0007	a0001c0001t0001g0255 a0001c0001t0002g0184 a0001c0001t0003g0252 others(8): Show a0001c0001t0001g0255 a0001c0001t0002g0184 a0001c0001t0003g0252 a0001c0001t0005g0250 a0001c0001t0005g0254 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0006g0251 a0001c0001t0016g0249 a0001c0006t0007g0253	11	322	0.0342	-10	c.-77 others(27): Show c.-77+9658_-77+9667delTTTTTTTTTT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77194332	ATATATGT others(3): Show ATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp1 HG02559.hp1 HG02922.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0036 a0003c0008t0004 a0001c0001t0036 a0003c0008t0004	a0001c0001t0036g0315 a0003c0008t0004g0314 a0001c0001t0036g0315 a0003c0008t0004g0314	2	322	0.0062	-10	c.-77 others(29): Show c.-77+12440_-77+12449delATATGTGTGT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77194334	ATATGTGT others(3): Show ATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG03098.hp1 HG04184.hp1 others(3): Show HG02155.hp1 HG03098.hp1 HG04184.hp1 NA18906.hp1 NA18945.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0024t0008	a0001c0001t0001g0019 a0001c0001t0002g0184 a0001c0001t0002g0202 others(3): Show a0001c0001t0001g0019 a0001c0001t0002g0184 a0001c0001t0002g0202 a0001c0001t0004g0225 a0001c0001t0004g0239 a0001c0024t0008g0200	6	322	0.0186	-10	c.-77 others(29): Show c.-77+12442_-77+12451delATGTGTGTGT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77194336	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp1 others(39): Show HG00099.hp1 HG00280.hp2 HG00544.hp1 HG00639.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01496.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02071.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02698.hp1 HG02735.hp2 HG03239.hp2 HG03831.hp1 HG04115.hp2 NA18947.hp2 NA18951.hp1 NA18954.hp2 NA18962.hp1 NA18977.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19009.hp2 NA19060.hp2 NA19084.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0002t0005 a0001c0002t0039 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0016	a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0152 others(38): Show a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0236 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0173 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0145 a0001c0001t0005g0144 a0001c0001t0005g0175 a0001c0001t0005g0180 a0001c0001t0006g0003 a0001c0001t0006g0142 a0001c0001t0006g0174 a0001c0001t0006g0182 a0001c0001t0007g0138 a0001c0001t0007g0140 a0001c0001t0008g0134 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0002t0005g0171 a0001c0002t0039g0156 a0001c0003t0001g0150 a0001c0003t0001g0157 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0005g0149 a0001c0003t0005g0177 a0001c0003t0005g0179 a0001c0003t0016g0155	42	322	0.1304	-10	c.-77 others(29): Show c.-77+12480_-77+12489delGTGTGTGTGT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77194527	TTCTTTCT others(3): Show TTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02970.hp1 others(4): Show HG02109.hp2 HG02717.hp1 HG02970.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0004t0008 others(1): Show a0001c0001t0004 a0001c0004t0004 a0001c0004t0008 a0001c0004t0024	a0001c0001t0004g0122 a0001c0004t0004g0002 a0001c0004t0004g0120 others(4): Show a0001c0001t0004g0122 a0001c0004t0004g0002 a0001c0004t0004g0120 a0001c0004t0004g0123 a0001c0004t0004g0235 a0001c0004t0008g0121 a0001c0004t0024g0002	7	322	0.0217	-10	c.-77 others(29): Show c.-77+12635_-77+12644delCTTTCTTTCT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM63C_chr14_77176798_77264495	77200979	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02280.hp1 HG02717.hp1 others(6): Show HG02109.hp2 HG02280.hp1 HG02717.hp1 HG02970.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0004t0008 others(1): Show a0001c0001t0004 a0001c0004t0004 a0001c0004t0008 a0001c0004t0024	a0001c0001t0004g0122 a0001c0004t0004g0002 a0001c0004t0004g0119 others(6): Show a0001c0001t0004g0122 a0001c0004t0004g0002 a0001c0004t0004g0119 a0001c0004t0004g0120 a0001c0004t0004g0123 a0001c0004t0004g0235 a0001c0004t0004g0261 a0001c0004t0008g0121 a0001c0004t0024g0002	9	322	0.0280	-10	c.-76 others(29): Show c.-76-12456_-76-12447delTTTTTTTTTT	TMEM63C	ENSG00000165548.11	transcript	ENST00000298351.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr14	TogoVar
TMEM64_chr8_90617000_90651083	90635367	CATTTTAT others(3): Show CATTTTATTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG03130.hp2 HG01167.hp2 HG01243.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0028 a0001c0002t0006g0028	3	348	0.0086	-10	c.796 others(27): Show c.796-3670_796-3661delAAAATAAAAT	TMEM64	ENSG00000180694.14	transcript	ENST00000458549.7	protein_coding	1/2			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124315306	ATCCTACA others(3): Show ATCCTACAGTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0212 a0001c0001t0058g0212	1	348	0.0029	-10	c.622 others(27): Show c.622-1255_622-1246delAACTGTAGGA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	6/6			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124339191	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02486.hp1 HG03453.hp2 others(2): Show HG01167.hp1 HG02486.hp1 HG03453.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0002 a0001c0001t0012g0022 a0001c0001t0012g0023 others(1): Show a0001c0001t0012g0002 a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0012g0024	5	348	0.0144	-10	c.305 others(27): Show c.305-8409_305-8400delTTTTTTTTTT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124350119	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG02132.hp1 others(8): Show HG00597.hp1 HG00673.hp2 HG02132.hp1 HG02523.hp2 NA18946.hp2 NA18949.hp1 NA18962.hp1 NA18972.hp1 NA18980.hp2 NA18988.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0298 others(8): Show a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0298 a0001c0001t0008g0299 a0001c0001t0008g0301 a0001c0001t0008g0302 a0001c0001t0008g0305 a0001c0001t0008g0306 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0008g0312	11	348	0.0316	-10	c.305 others(29): Show c.305-19337_305-19328delACACACACAC	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124352475	CATAAAAT others(3): Show CATAAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00597.hp1 others(43): Show HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp1 HG01081.hp1 HG01106.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03486.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 NA18946.hp2 NA18962.hp1 NA18964.hp2 NA18972.hp1 NA18988.hp1 NA19003.hp1 NA19030.hp2 NA19054.hp2 NA19078.hp1 NA19090.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0035 a0001c0001t0036 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0060 a0001c0001t0063	a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0001t0001g0086 others(43): Show a0001c0001t0001g0040 a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0002g0197 a0001c0001t0003g0198 a0001c0001t0003g0239 a0001c0001t0006g0098 a0001c0001t0006g0117 a0001c0001t0007g0034 a0001c0001t0007g0045 a0001c0001t0007g0112 a0001c0001t0007g0116 a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0298 a0001c0001t0008g0299 a0001c0001t0008g0304 a0001c0001t0008g0305 a0001c0001t0008g0309 a0001c0001t0008g0310 a0001c0001t0008g0311 a0001c0001t0008g0312 a0001c0001t0009g0250 a0001c0001t0009g0254 a0001c0001t0009g0314 a0001c0001t0010g0318 a0001c0001t0010g0323 a0001c0001t0011g0229 a0001c0001t0013g0044 a0001c0001t0015g0232 a0001c0001t0016g0332 a0001c0001t0023g0327 a0001c0001t0035g0014 a0001c0001t0036g0046 a0001c0001t0052g0249 a0001c0001t0053g0274 a0001c0001t0054g0307 a0001c0001t0060g0303 a0001c0001t0063g0328	46	348	0.1322	-10	c.304 others(29): Show c.304+19369_304+19378delTTTATTTTAT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM65_chr8_124301189_124377701	124363836	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG02723.hp1 others(1): Show HG01109.hp2 HG02622.hp1 HG02723.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0048 a0001c0001t0019 a0001c0001t0048	a0001c0001t0019g0160 a0001c0001t0019g0161 a0001c0001t0019g0162 others(1): Show a0001c0001t0019g0160 a0001c0001t0019g0161 a0001c0001t0019g0162 a0001c0001t0048g0163	4	348	0.0115	-10	c.304 others(27): Show c.304+8008_304+8017delTTTTTTTTTT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding	1/6			chr8	TogoVar
TMEM67_chr8_93749894_93823121	93750673	GACACACA others(3): Show GACACACACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00673.hp1 others(65): Show HG00408.hp2 HG00597.hp1 HG00673.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp2 HG01261.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp2 HG02056.hp1 HG02083.hp2 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG03041.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03831.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18942.hp2 NA18946.hp2 NA18949.hp1 NA18954.hp2 NA18955.hp2 NA18965.hp1 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA19003.hp2 NA19007.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19068.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0008c0012	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0003c0006t0001 a0008c0012t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 others(64): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0099 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0003t0001g0014 a0001c0003t0001g0053 a0001c0003t0001g0186 a0001c0003t0001g0202 a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0249 a0001c0003t0001g0253 a0001c0003t0001g0287 a0001c0003t0001g0288 a0002c0002t0001g0229 a0002c0002t0001g0233 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0289 a0003c0006t0001g0227 a0008c0012t0001g0218	68	318	0.2138	-10	c.-42 others(21): Show c.-4241_-4232delACACACACAC	TMEM67	ENSG00000164953.17	transcript	ENST00000453321.8	protein_coding		4220		chr8	TogoVar
TMEM67_chr8_93749894_93823121	93798942	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	318	0.0031	-10	c.210 others(27): Show c.2101-643_2101-634delGTGTGTGTGT	TMEM67	ENSG00000164953.17	transcript	ENST00000453321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr8	TogoVar

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