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
ATP6V0A4_chr7_138701294_138803196	138707126	T T	TATCATAT others(16): Show TATCATATATATTATTATATATAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	374	0.0027	23	c.243 others(40): Show c.2430-410_2430-409insTTATATATAATAATATATATGAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	164	0.0061	23	c.157 others(42): Show c.1572+2426_1572+2427insTATATATATATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0E1_chr5_172978771_173040445	173024370	G G	GTTGTGTT others(16): Show GTTGTGTTTTTTTGTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp1 HG03516.hp1 HG02055.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201	3	292	0.0103	23	c.36 others(40): Show c.36+4012_*36+4013insTTTGTTTTTGTTTTTTGTGTTTT	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	185	0.0054	23	c.-30 others(34): Show c.-3072_-3071insATATATATATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1F_chr7_128857856_128870847	128869564	G G	GGAACGCC others(16): Show GGAACGCCTCCACATCGCCAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	23	c.39 others(34): Show c.3986_*3987insGAACGCCTCCACATCGCCAGGAA	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		3718		chr7	TogoVar
ATP7A_chrX_77905693_78055395	78049410	C C	CAACCATG others(16): Show CAACCATGCCCTTAGTCTGAAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0071 a0002c0002t0012g0071	1	231	0.0043	23	c.28 others(34): Show c.2844_*2866dupCATGCCCTTAGTCTGAAGATAAC	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	23/23	2867	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0005 a0009c0016t0005	a0009c0016t0005g0269 a0009c0016t0005g0269	1	136	0.0074	23	c.244 others(42): Show c.2448-3453_2448-3452insTTTTTTTTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01169.hp2 others(15): Show HG00733.hp2 HG00735.hp1 HG01169.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG02155.hp1 HG02523.hp2 HG02738.hp1 HG03239.hp1 HG04228.hp1 NA18941.hp1 NA18952.hp1 NA18981.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0003t0005	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 others(15): Show a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0134 a0001c0001t0001g0179 a0001c0001t0005g0199 a0001c0001t0005g0204 a0001c0001t0005g0208 a0001c0001t0008g0017 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0003t0005g0284	18	32	0.5625	23	c.295 others(40): Show c.2958+502_2958+503insTTTTTTTTTTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25528743	T T	TTGTGTAT others(16): Show TTGTGTATGCATACATATGCAACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02015.hp1 HG02257.hp1 others(8): Show HG00738.hp1 HG02015.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02647.hp1 HG02896.hp1 NA18952.hp1 NA18977.hp1 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0059 a0001c0003t0001 a0001c0003t0002 others(8): Show a0001c0001t0059 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0060 a0001c0003t0065 a0001c0003t0069 a0001c0005t0012	a0001c0001t0059g0022 a0001c0003t0001g0106 a0001c0003t0002g0108 others(8): Show a0001c0001t0059g0022 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0111 a0001c0003t0060g0115 a0001c0003t0065g0033 a0001c0003t0069g0012 a0001c0005t0012g0020	11	104	0.1058	23	c.222 others(40): Show c.222-1245_222-1223dupTACATATGCAACATGTGTATGCA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25528846	C C	CACATATG others(16): Show CACATATGCAACATGTGTATGCAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	1	61	0.0164	23	c.222 others(40): Show c.222-1120_222-1098dupACATGTGTATGCATACATATGCA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0033 a0001c0008t0033	a0001c0008t0033g0075 a0001c0008t0033g0075	1	17	0.0588	23	c.318 others(44): Show c.3184-24210_3184-24209insCTTTTTTTTTTTTTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA19009.hp2 HG01361.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0016 a0001c0001t0001 a0001c0006t0016	a0001c0001t0001g0012 a0001c0006t0016g0056 a0001c0001t0001g0012 a0001c0006t0016g0056	2	15	0.1333	23	c.163 others(42): Show c.1630+3736_1630+3758dupTTTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713240	C C	CTTCCTTC others(16): Show CTTCCTTCCTTCCTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0183 a0001c0001t0012g0183	1	194	0.0052	23	c.182 others(40): Show c.182-6654_182-6653insAGAAAGAAGAAGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57759155	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	69	0.0145	23	c.-25 others(42): Show c.-25-27346_-25-27324dupTTTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50029255	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02970.hp2 HG03492.hp2 others(1): Show HG00609.hp1 HG02970.hp2 HG03492.hp2 NA18906.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0008 a0003c0003 a0007c0008	a0003c0003t0001 a0003c0003t0003 a0007c0008t0005 a0003c0003t0001 a0003c0003t0003 a0007c0008t0005	a0003c0003t0001g0225 a0003c0003t0003g0140 a0003c0003t0003g0235 others(1): Show a0003c0003t0001g0225 a0003c0003t0003g0140 a0003c0003t0003g0235 a0007c0008t0005g0099	4	244	0.0164	23	c.362 others(40): Show c.362+9512_362+9513insGTTTTTTTTTTTTTTTTTTTTTT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51718814	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02486.hp1 HG02630.hp1 HG01168.hp1 HG02486.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0002t0016 a0001c0003t0015 a0001c0002t0004 a0001c0002t0016 a0001c0003t0015	a0001c0002t0004g0054 a0001c0002t0016g0053 a0001c0003t0015g0115 a0001c0002t0004g0054 a0001c0002t0016g0053 a0001c0003t0015g0115	3	83	0.0361	23	c.328 others(40): Show c.328-5763_328-5741dupTTTTTTTTTTTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	3/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02572.hp2 others(4): Show HG01106.hp2 HG01884.hp1 HG02572.hp2 NA18952.hp2 NA18992.hp2 NA19011.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0037 a0001c0001 a0001c0004 a0001c0037	a0001c0001t0001 a0001c0004t0003 a0001c0037t0003 a0001c0001t0001 a0001c0004t0003 a0001c0037t0003	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0037t0003g0104	7	8	0.8750	23	c.119 others(40): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79339254	A A	ATGTCATG others(16): Show ATGTCATGATCACAGTAGGAAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(273): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0003 a0001c0004 others(34): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0001c0024 a0001c0025 a0001c0026 a0001c0037 a0001c0038 a0001c0039 a0002c0002 a0002c0005 a0002c0018 a0002c0032 a0002c0033 a0003c0007 a0003c0020 a0003c0021 a0005c0009 a0005c0016 a0006c0012 a0007c0019 a0008c0035 a0009c0031 a0010c0029 a0011c0030 a0012c0023 a0013c0022 a0014c0034 a0015c0028 a0016c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0004 a0001c0010t0001 a0001c0010t0004 a0001c0011t0006 a0001c0013t0004 a0001c0014t0006 a0001c0015t0001 a0001c0017t0004 a0001c0024t0004 a0001c0025t0001 a0001c0026t0001 a0001c0037t0003 a0001c0038t0001 a0001c0039t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0014 a0002c0005t0001 a0002c0005t0002 a0002c0005t0004 a0002c0018t0002 a0002c0032t0005 a0002c0033t0002 a0003c0007t0004 a0003c0020t0004 a0003c0021t0004 a0005c0009t0005 a0005c0016t0001 a0006c0012t0003 a0007c0019t0002 a0008c0035t0002 a0009c0031t0002 a0010c0029t0004 a0011c0030t0001 a0012c0023t0001 a0013c0022t0004 a0014c0034t0002 a0015c0028t0012 a0016c0027t0003	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(273): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0002g0079 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0002g0135 a0001c0003t0002g0149 a0001c0003t0003g0112 a0001c0003t0003g0120 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0123 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0129 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0138 a0001c0003t0003g0142 a0001c0003t0003g0144 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0003g0147 a0001c0003t0003g0150 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0002g0091 a0001c0004t0002g0092 a0001c0004t0002g0093 a0001c0004t0002g0109 a0001c0004t0003g0034 a0001c0004t0003g0041 a0001c0004t0003g0056 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0004t0003g0073 a0001c0004t0003g0094 a0001c0004t0003g0096 a0001c0004t0003g0098 a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0004t0003g0110 a0001c0004t0003g0113 a0001c0004t0003g0119 a0001c0004t0004g0116 a0001c0004t0004g0118 a0001c0006t0003g0267 a0001c0006t0003g0268 a0001c0006t0003g0282 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0010t0001g0297 a0001c0010t0004g0276 a0001c0010t0004g0295 a0001c0010t0004g0296 a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0014t0006g0017 a0001c0014t0006g0097 a0001c0015t0001g0128 a0001c0015t0001g0132 a0001c0017t0004g0099 a0001c0024t0004g0058 a0001c0025t0001g0074 a0001c0026t0001g0038 a0001c0037t0003g0104 a0001c0038t0001g0265 a0001c0039t0002g0266 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0190 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0249 a0002c0002t0002g0251 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0003g0192 a0002c0002t0003g0199 a0002c0002t0004g0252 a0002c0002t0004g0258 a0002c0002t0009g0250 a0002c0002t0009g0254 a0002c0002t0014g0175 a0002c0005t0001g0174 a0002c0005t0001g0183 a0002c0005t0001g0184 a0002c0005t0001g0187 a0002c0005t0001g0188 a0002c0005t0001g0191 a0002c0005t0001g0195 a0002c0005t0001g0243 a0002c0005t0001g0244 a0002c0005t0002g0204 a0002c0005t0002g0205 a0002c0005t0002g0206 a0002c0005t0002g0208 a0002c0005t0004g0173 a0002c0018t0002g0114 a0002c0032t0005g0189 a0002c0033t0002g0212 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0281 a0003c0007t0004g0283 a0003c0007t0004g0284 a0003c0007t0004g0289 a0003c0020t0004g0286 a0003c0021t0004g0285 a0005c0009t0005g0165 a0005c0009t0005g0166 a0005c0009t0005g0167 a0005c0009t0005g0168 a0005c0009t0005g0170 a0005c0016t0001g0169 a0005c0016t0001g0171 a0006c0012t0003g0198 a0006c0012t0003g0219 a0006c0012t0003g0221 a0007c0019t0002g0076 a0008c0035t0002g0194 a0009c0031t0002g0248 a0010c0029t0004g0220 a0011c0030t0001g0253 a0012c0023t0001g0042 a0013c0022t0004g0277 a0014c0034t0002g0229 a0015c0028t0012g0143 a0016c0027t0003g0139	276	296	0.9324	23	c.228 others(42): Show c.2283+1816_2283+1838dupACAGTAGGAAGTGTGTCATGATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPAF2_chr17_18013021_18044168	18019186	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	313	0.0032	23	c.733 others(38): Show c.733-501_733-500insTGTGTGTGTGTGTGTGTGTGTGT	ATPAF2	ENSG00000171953.16	transcript	ENST00000474627.8	protein_coding	7/7			chr17	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02300.hp2 HG02572.hp1 others(5): Show HG00738.hp2 HG02300.hp2 HG02572.hp1 HG02622.hp2 HG02970.hp1 HG03195.hp1 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 others(5): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0035 a0001c0001t0048 a0001c0002t0004 a0001c0003t0015	a0001c0001t0002g0115 a0001c0001t0011g0114 a0001c0001t0014g0001 others(5): Show a0001c0001t0002g0115 a0001c0001t0011g0114 a0001c0001t0014g0001 a0001c0001t0020g0117 a0001c0001t0035g0120 a0001c0001t0048g0123 a0001c0002t0004g0056 a0001c0003t0015g0124	8	41	0.1951	23	c.317 others(44): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115403257	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02630.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0013 a0001c0001t0008 a0001c0006t0013	a0001c0001t0008g0030 a0001c0006t0013g0029 a0001c0001t0008g0030 a0001c0006t0013g0029	2	37	0.0541	23	c.326 others(42): Show c.3269+8524_3269+8525insTTTTTTTTTTTTTTTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115802046	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG02717.hp2 others(7): Show HG01109.hp1 HG02615.hp1 HG02717.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp2 HG03579.hp1 NA18957.hp2 NA18959.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0016 a0002c0008	a0001c0001t0001 a0001c0001t0035 a0001c0001t0036 others(6): Show a0001c0001t0001 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0005t0021 a0001c0016t0003 a0002c0008t0044	a0001c0001t0001g0069 a0001c0001t0001g0112 a0001c0001t0035g0120 others(7): Show a0001c0001t0001g0069 a0001c0001t0001g0112 a0001c0001t0035g0120 a0001c0001t0036g0119 a0001c0002t0001g0049 a0001c0002t0006g0060 a0001c0003t0001g0086 a0001c0005t0021g0007 a0001c0016t0003g0102 a0002c0008t0044g0061	10	53	0.1887	23	c.390 others(44): Show c.3904-45831_3904-45830insCACACACACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28			chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115856428	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02015.hp1 HG00639.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0068 a0001c0012t0001g0070 a0001c0001t0001g0068 a0001c0012t0001g0070	2	8	0.2500	23	c.401 others(42): Show c.4018+8459_4018+8460insAAAAAAAAAAAAAAAAAAAAAAA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115882690	T T	TGGAGAAT others(16): Show TGGAGAATGAGAAGAGGATGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0044 a0002c0008t0044	a0002c0008t0044g0061 a0002c0008t0044g0061	1	126	0.0079	23	c.401 others(44): Show c.4018+34701_4018+34723dupGAGAATGAGAAGAGGATGAGGAG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3485610	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0193 a0001c0007t0003g0193	1	43	0.0233	23	c.410 others(42): Show c.410+14100_410+14122dupTTTTTTTTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0158 a0003c0006t0001g0158	1	11	0.0909	23	c.621 others(42): Show c.6217+4228_6217+4250dupTTTTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATXN1_chr6_16294112_16766460	16440649	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20300.hp2 HG01884.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0070 a0002c0004t0003g0114 a0002c0004t0003g0070 a0002c0004t0003g0114	2	123	0.0163	23	c.-16 others(44): Show c.-161+45322_-161+45323insCTTTTTTTTTTTTTTTTTTTTTT	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	6/7			chr6	TogoVar
ATXN2_chr12_111447214_111604315	111588991	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18985.hp2 NA18959.hp1 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0093 a0002c0002t0001g0037 a0002c0002t0001g0093	2	25	0.0800	23	c.251 others(40): Show c.251+9770_251+9792dupTTTTTTTTTTTTTTTTTTTTTTT	ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24			chr12	TogoVar
ATXN7L1_chr7_105599772_105881599	105740784	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00558.hp2 others(58): Show HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00738.hp2 HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02056.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02300.hp1 HG02523.hp1 HG02647.hp1 HG02735.hp2 HG02896.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG04199.hp1 NA18747.hp1 NA18906.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18970.hp1 NA18989.hp1 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19074.hp1 NA19079.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0008 others(1): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0025 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0007t0033 a0001c0008t0005 a0002c0002t0017 a0002c0002t0026	a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0071 others(58): Show a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0150 a0001c0001t0001g0170 a0001c0001t0001g0216 a0001c0001t0001g0251 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0044 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0102 a0001c0001t0003g0010 a0001c0001t0003g0049 a0001c0001t0003g0152 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0231 a0001c0001t0003g0245 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0246 a0001c0001t0006g0014 a0001c0001t0006g0027 a0001c0001t0006g0182 a0001c0001t0006g0248 a0001c0001t0008g0131 a0001c0001t0008g0178 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0009g0141 a0001c0001t0010g0093 a0001c0001t0010g0111 a0001c0001t0011g0012 a0001c0001t0011g0151 a0001c0001t0011g0156 a0001c0001t0011g0169 a0001c0001t0014g0139 a0001c0001t0015g0113 a0001c0001t0015g0192 a0001c0001t0020g0250 a0001c0001t0025g0215 a0001c0001t0028g0041 a0001c0001t0034g0180 a0001c0001t0035g0207 a0001c0001t0037g0195 a0001c0001t0044g0148 a0001c0001t0046g0035 a0001c0001t0047g0133 a0001c0007t0033g0157 a0001c0008t0005g0164 a0002c0002t0017g0221 a0002c0002t0017g0226 a0002c0002t0026g0208	61	151	0.4040	23	c.355 others(42): Show c.355+47819_355+47820insTCAAAAAAAAAAAAAAAAAAAAA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	70053544	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG01934.hp2 HG00280.hp1 HG00597.hp1 HG01934.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0011 a0001c0001 a0003c0011	a0001c0001t0001 a0001c0001t0003 a0003c0011t0007 a0001c0001t0001 a0001c0001t0003 a0003c0011t0007	a0001c0001t0001g0071 a0001c0001t0003g0068 a0003c0011t0007g0004 a0001c0001t0001g0071 a0001c0001t0003g0068 a0003c0011t0007g0004	3	30	0.1000	23	c.523 others(42): Show c.523-64576_523-64575insTTTTTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70579244	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02622.hp1 HG00741.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0033 a0001c0001t0001 a0002c0010t0033	a0001c0001t0001g0044 a0002c0010t0033g0014 a0001c0001t0001g0044 a0002c0010t0033g0014	2	9	0.2222	23	c.691 others(44): Show c.691-119307_691-119306insAAAAAAAAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02723.hp2 NA18988.hp2 others(1): Show HG00558.hp2 HG02723.hp2 NA18988.hp2 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0001c0001t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0250 a0001c0001t0004g0043 a0002c0002t0001g0067 others(1): Show a0001c0001t0001g0250 a0001c0001t0004g0043 a0002c0002t0001g0067 a0002c0002t0001g0209	4	9	0.4444	23	c.446 others(42): Show c.446-23488_446-23466dupAAAAAAAAAAAAAAAAAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVIL_chr12_57792380_57823734	57818182	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	22	0.0455	23	c.-20 others(38): Show c.-20+424_-20+446dupAAAAAAAAAAAAAAAAAAAAAAA	AVIL	ENSG00000135407.11	transcript	ENST00000549994.2	protein_coding	1/19			chr12	TogoVar
AXDND1_chr1_179360971_179559735	179419607	A A	AGAGAGGG others(16): Show AGAGAGGGAGAGGGAGATGGTGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	354	0.0028	23	c.123 others(42): Show c.1230+8358_1230+8380dupTGGTGGGGAGAGGGAGAGGGAGA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179486139	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 HG01928.hp1 others(3): Show HG00099.hp1 HG01261.hp2 HG01928.hp1 NA18995.hp1 NA19009.hp1 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0127 a0001c0002t0001g0131 others(3): Show a0001c0002t0001g0107 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0148 a0001c0002t0001g0210 a0001c0002t0001g0289	6	135	0.0444	23	c.209 others(42): Show c.2091+2920_2091+2921insAAAAAAAAAAAAAAAAAAACTAA	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285839	T T	TCCCAACC others(16): Show TCCCAACCCGGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01261.hp2 others(4): Show HG00621.hp1 HG00642.hp1 HG01261.hp2 HG01361.hp1 HG01934.hp1 NA18952.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0014	a0001c0001t0001 a0001c0003t0013 a0001c0004t0025 others(1): Show a0001c0001t0001 a0001c0003t0013 a0001c0004t0025 a0001c0014t0020	a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0003t0013g0060 others(4): Show a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0003t0013g0060 a0001c0004t0025g0335 a0001c0004t0025g0348 a0001c0014t0020g0071 a0001c0014t0020g0072	7	373	0.0188	23	c.22 others(34): Show c.2260_*2282dupGTTGGGAGAACCGCCGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1600		chr16	TogoVar
AXIN1_chr16_282440_357723	285871	G G	GGCGGTTC others(16): Show GGCGGTTCTCCCAACCCCAAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0127 a0001c0002t0001g0127	1	374	0.0027	23	c.22 others(34): Show c.2228_*2250dupGGGTTTGGGGTTGGGAGAACCGC	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1568		chr16	TogoVar
AXIN1_chr16_282440_357723	285983	T T	TCCCAACC others(16): Show TCCCAACCCCGCGGTTCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0010 a0006c0032t0010	a0006c0032t0010g0027 a0006c0032t0010g0027	1	259	0.0039	23	c.21 others(34): Show c.2116_*2138dupGTTGGGAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1456		chr16	TogoVar
AXIN1_chr16_282440_357723	286015	C C	CGCGGTTC others(16): Show CGCGGTTCTCCCAACCCCAACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02258.hp2 HG04184.hp2 HG01346.hp2 HG02258.hp2 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0003c0008 a0001c0002 a0001c0003 a0003c0008	a0001c0002t0005 a0001c0003t0003 a0003c0008t0007 a0001c0002t0005 a0001c0003t0003 a0003c0008t0007	a0001c0002t0005g0078 a0001c0003t0003g0210 a0003c0008t0007g0274 a0001c0002t0005g0078 a0001c0003t0003g0210 a0003c0008t0007g0274	3	369	0.0081	23	c.21 others(34): Show c.2106_*2107insAGGGTTGGGGTTGGGAGAACCGC	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1424		chr16	TogoVar
AXL_chr19_41214223_41266766	41260298	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp2 HG03130.hp2 HG02976.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0210 a0001c0001t0036g0211 a0001c0001t0036g0210 a0001c0001t0036g0211	2	49	0.0408	23	c.40 others(32): Show c.403_*425dupTTTTTTTTTTTTTTTTTTTTTTT	AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20	426	INFO_REALIGN_3_PRIME	chr19	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	39	0.0256	23	c.-38 others(34): Show c.-3878_-3877insTATATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02818.hp2 HG01255.hp2 HG02818.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0014 a0006c0009t0002 a0001c0001t0014 a0006c0009t0002	a0001c0001t0014g0184 a0006c0009t0002g0262 a0001c0001t0014g0184 a0006c0009t0002g0262	2	40	0.0500	23	c.-38 others(34): Show c.-3878_-3877insTATATATATATATTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG03834.hp1 HG00639.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0115 a0001c0001t0001g0077 a0001c0001t0001g0115	2	40	0.0500	23	c.-38 others(34): Show c.-3878_-3877insTATATATATATTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG03834.hp2 HG02027.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0003 a0001c0001t0005 a0002c0002t0003	a0001c0001t0005g0196 a0002c0002t0003g0080 a0001c0001t0005g0196 a0002c0002t0003g0080	2	40	0.0500	23	c.-38 others(34): Show c.-3878_-3877insTATATATATTTTTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31253595	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03139.hp2 HG01106.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0012 a0002c0011t0004 a0002c0002t0012 a0002c0011t0004	a0002c0002t0012g0173 a0002c0011t0004g0179 a0002c0002t0012g0173 a0002c0011t0004g0179	2	138	0.0145	23	c.459 others(40): Show c.459+5633_459+5655dupAAAAAAAAAAAAAAAAAAAAAAA	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31308362	A A	ACAAAAAC others(16): Show ACAAAAACAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18963.hp1 NA18997.hp1 others(1): Show HG02015.hp1 NA18963.hp1 NA18997.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0016 a0002c0002t0009g0208 a0002c0002t0009g0209 others(1): Show a0002c0002t0009g0016 a0002c0002t0009g0208 a0002c0002t0009g0209 a0002c0002t0009g0210	4	53	0.0755	23	c.106 others(42): Show c.1065-9204_1065-9203insCAAAAACAAAAACAAAACAAAAC	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31316431	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0206 a0004c0004t0004g0206	1	231	0.0043	23	c.106 others(42): Show c.1065-1135_1065-1134insTATATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	12/14			chr13	TogoVar
B3GNT5_chr3_183248253_183278385	183269230	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG01891.hp1 others(1): Show HG01081.hp1 HG01261.hp2 HG01891.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0044 a0001c0001t0001g0218 a0001c0001t0001g0219	4	188	0.0213	23	c.-30 others(40): Show c.-301-250_-301-249insTTTTTTTTTTTTTTTTTTTTTTT	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNTL1_chr17_82937149_83056770	82970548	C C	CCAGCGTG others(16): Show CCAGCGTGGACTGACCTCCGCACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01192.hp2 HG01515.hp2 others(5): Show HG00673.hp1 HG01192.hp2 HG01515.hp2 HG01516.hp2 HG02630.hp2 HG02698.hp2 HG03540.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0036 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0036 a0001c0002t0008 a0001c0002t0010	a0001c0001t0002g0065 a0001c0001t0002g0153 a0001c0001t0004g0239 others(5): Show a0001c0001t0002g0065 a0001c0001t0002g0153 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0246 a0001c0001t0036g0248 a0001c0002t0008g0096 a0001c0002t0010g0133	8	266	0.0301	23	c.460 others(40): Show c.460-4803_460-4802insTGTGCGGAGGTCAGTCCACGCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82984480	G G	GGGGAGAG others(16): Show GGGGAGAGGCCATGTGAGCACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(95): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp1 HG01943.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18971.hp2 NA18980.hp2 NA18986.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0002c0005 a0002c0009 a0002c0010 a0002c0015 a0002c0027 a0003c0024 a0003c0030	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(45): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0032 a0001c0001t0037 a0001c0002t0002 a0001c0003t0014 a0001c0003t0015 a0001c0003t0034 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0004t0026 a0001c0004t0031 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0006t0008 a0001c0006t0011 a0001c0006t0023 a0001c0006t0033 a0001c0007t0001 a0001c0007t0004 a0001c0007t0005 a0001c0008t0005 a0001c0008t0014 a0001c0008t0021 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0001c0012t0001 a0001c0012t0002 a0001c0013t0012 a0001c0014t0001 a0001c0014t0002 a0001c0014t0018 a0002c0005t0003 a0002c0005t0007 a0002c0009t0003 a0002c0009t0013 a0002c0010t0007 a0002c0015t0003 a0002c0027t0003 a0003c0024t0010 a0003c0030t0011	a0001c0001t0002g0059 a0001c0001t0002g0177 a0001c0001t0004g0230 others(90): Show a0001c0001t0002g0059 a0001c0001t0002g0177 a0001c0001t0004g0230 a0001c0001t0004g0246 a0001c0001t0004g0250 a0001c0001t0010g0184 a0001c0001t0014g0251 a0001c0001t0017g0176 a0001c0001t0022g0243 a0001c0001t0032g0164 a0001c0001t0037g0257 a0001c0002t0002g0087 a0001c0002t0002g0104 a0001c0002t0002g0115 a0001c0003t0014g0193 a0001c0003t0015g0194 a0001c0003t0015g0195 a0001c0003t0015g0223 a0001c0003t0034g0201 a0001c0004t0001g0002 a0001c0004t0001g0022 a0001c0004t0001g0027 a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0034 a0001c0004t0001g0037 a0001c0004t0001g0038 a0001c0004t0001g0040 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0049 a0001c0004t0002g0051 a0001c0004t0010g0035 a0001c0004t0026g0048 a0001c0004t0031g0036 a0001c0006t0001g0018 a0001c0006t0002g0032 a0001c0006t0006g0039 a0001c0006t0008g0021 a0001c0006t0011g0028 a0001c0006t0023g0031 a0001c0006t0033g0046 a0001c0007t0001g0003 a0001c0007t0001g0150 a0001c0007t0001g0151 a0001c0007t0004g0244 a0001c0007t0004g0245 a0001c0007t0005g0226 a0001c0007t0005g0227 a0001c0007t0005g0228 a0001c0007t0005g0232 a0001c0007t0005g0236 a0001c0007t0005g0242 a0001c0007t0005g0253 a0001c0008t0005g0190 a0001c0008t0005g0191 a0001c0008t0005g0204 a0001c0008t0005g0225 a0001c0008t0014g0198 a0001c0008t0014g0215 a0001c0008t0021g0216 a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146 a0001c0012t0001g0081 a0001c0012t0001g0101 a0001c0012t0001g0125 a0001c0012t0002g0080 a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0001c0014t0001g0013 a0001c0014t0002g0012 a0001c0014t0018g0050 a0002c0005t0003g0056 a0002c0005t0003g0057 a0002c0005t0003g0058 a0002c0005t0003g0163 a0002c0005t0007g0006 a0002c0005t0007g0260 a0002c0009t0003g0093 a0002c0009t0013g0088 a0002c0010t0007g0005 a0002c0010t0007g0209 a0002c0010t0007g0218 a0002c0015t0003g0024 a0002c0015t0003g0045 a0002c0027t0003g0114 a0003c0024t0010g0152 a0003c0030t0011g0141	98	156	0.6282	23	c.460 others(42): Show c.460-18735_460-18734insTGTGTGCTCACATGGCCTCTCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar

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