Joint Open Genome and Omics Platform (JoGo)

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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
ARMC9_chr2_231193631_231381848	231328814	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0088 a0001c0002t0012g0088	1	139	0.0072	27	c.177 others(46): Show c.1774-2975_1774-2974insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ARMC9	ENSG00000135931.19	transcript	ENST00000611582.5	protein_coding	19/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARMH3_chr10_101840599_102061173	101935174	A A	AATATATA others(20): Show AATATATATATATATATATATATAATAT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	66	0.0152	27	c.178 others(46): Show c.1781+4688_1781+4689insATATTATATATATATATATATATATA T	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ARMH3_chr10_101840599_102061173	102041090	A A	AATATATA others(20): Show AATATATATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	193	0.0052	27	c.-11 others(42): Show c.-11-966_-11-965insATTATATATATATATATATATATATAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	1/25			chr10	TogoVar
ARMH4_chr14_57995761_58157213	58094329	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0230 a0002c0005t0010g0230	1	119	0.0084	27	c.208 others(46): Show c.2089+2394_2089+2395insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ARMH4	ENSG00000139971.15	transcript	ENST00000267485.7	protein_coding	5/7			chr14	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG01261.hp1 others(8): Show HG00408.hp2 HG00423.hp2 HG01261.hp1 HG02080.hp1 NA18943.hp2 NA18973.hp1 NA18979.hp2 NA18988.hp2 NA18999.hp1 NA19000.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0043 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0043 a0001c0001t0001g0063 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0003g0065	11	24	0.4583	27	c.-16 others(38): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARPC3_chr12_110429823_110455337	110450831	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA18962.hp1 NA19000.hp1 HG00597.hp1 NA18962.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0117 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0117	3	14	0.2143	27	c.-57 others(36): Show c.-572_-571insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		495		chr12	TogoVar
ARPP21_chr3_35634525_35799486	35667841	A A	AAAGAAGA others(20): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	150	0.0067	27	c.-21 others(48): Show c.-212-11923_-212-11897dupAGAAGAAGAAGAAGAAGAAGAAGA AGA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35667885	A A	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19043.hp2 HG02602.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0104 a0001c0002t0001g0062 a0001c0002t0001g0104	2	207	0.0097	27	c.-21 others(48): Show c.-212-11897_-212-11896insAGAAGAAGAAGAAGAAGAAGAGGA AGA	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARPP21_chr3_35634525_35799486	35668027	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	250	0.0040	27	c.-21 others(48): Show c.-212-11755_-212-11754insAAGAAGAAGAAGAAGAAGAAGGAG AAG	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARR3_chrX_70263334_70286840	70268296	T T	TGTGGGTA others(20): Show TGTGGGTATAAGAGGCTGGGGAGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	317	0.0032	27	c.-10 others(36): Show c.-107_-106insGTGGGTATAAGAGGCTGGGGAGGCAGG	ARR3	ENSG00000120500.19	transcript	ENST00000307959.9	protein_coding		37		chrX	TogoVar
ARSA_chr22_50617754_50633152	50621564	T T	TCCCCCCC others(20): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0006 a0003c0003t0005g0006	1	458	0.0022	27	c.35 others(38): Show c.3580_*3581insGGGGGGGGGGGGGGGGGGGGGGGGGGG	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		1189		chr22	TogoVar
ARSB_chr5_78772209_78990310	78841162	C C	CTAATAAT others(20): Show CTAATAATAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0054 a0003c0004t0054	a0003c0004t0054g0233 a0003c0004t0054g0233	1	327	0.0031	27	c.114 others(46): Show c.1143-1737_1143-1736insTTATTATTATTATTATTATTATTATT A	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTAATAAT others(20): Show CTAATAATAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp2 HG02145.hp2 HG01255.hp2 HG01358.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0033 a0003c0004t0072 a0003c0004t0003 a0003c0004t0033 a0003c0004t0072	a0003c0004t0003g0283 a0003c0004t0033g0282 a0003c0004t0072g0323 a0003c0004t0003g0283 a0003c0004t0033g0282 a0003c0004t0072g0323	3	116	0.0259	27	c.114 others(46): Show c.1143-1743_1143-1742insTTATTATTATTATTATTATTATTATT A	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTAAT others(20): Show CTACTAATAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	2	115	0.0174	27	c.114 others(46): Show c.1143-1743_1143-1742insTTATTATTATTATTATTATTATTAGT A	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(20): Show CTACTACTACTACTACTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0352 a0001c0003t0007g0352	1	114	0.0088	27	c.114 others(46): Show c.1143-1743_1143-1742insTTATTATTATTAGTAGTAGTAGTAGT A	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(20): Show CTACTACTACTACTACTACTAATAATAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0070 a0001c0003t0070	a0001c0003t0070g0200 a0001c0003t0070g0200	1	114	0.0088	27	c.114 others(46): Show c.1143-1743_1143-1742insTTATTATTAGTAGTAGTAGTAGTAGT A	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(20): Show CTACTACTACTACTACTACTACTAATAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0012 a0001c0003t0022 a0001c0005t0036 a0001c0003t0012 a0001c0003t0022 a0001c0005t0036	a0001c0003t0012g0123 a0001c0003t0022g0124 a0001c0005t0036g0271 a0001c0003t0012g0123 a0001c0003t0022g0124 a0001c0005t0036g0271	3	116	0.0259	27	c.114 others(46): Show c.1143-1743_1143-1742insTTATTAGTAGTAGTAGTAGTAGTAGT A	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSB_chr5_78772209_78990310	78841168	C C	CTACTACT others(20): Show CTACTACTACTACTACTACTACTACTAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0207 a0001c0008t0002g0207	1	114	0.0088	27	c.114 others(46): Show c.1143-1743_1143-1742insTTAGTAGTAGTAGTAGTAGTAGTAGT A	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	5/7			chr5	TogoVar
ARSF_chrX_3036471_3117727	3036889	A A	ATTATATA others(20): Show ATTATATATATAATATTATATAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0027 a0005c0011t0001g0027	1	191	0.0052	27	c.-48 others(38): Show c.-4803_-4802insTTATATATATAATATTATATAAAATAT	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4581		chrX	TogoVar
ARSH_chrX_3001546_3039111	3036889	A A	ATTATATA others(20): Show ATTATATATATAATATTATATAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG03579.hp1 HG02572.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0161 a0001c0002t0006g0162 a0001c0002t0006g0161 a0001c0002t0006g0162	2	246	0.0081	27	c.35 others(38): Show c.3504_*3505insTTATATATATAATATTATATAAAATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		2779		chrX	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG04184.hp1 HG02735.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0099 a0001c0001t0005g0105 a0001c0001t0005g0099 a0001c0001t0005g0105	2	113	0.0177	27	c.55 others(38): Show c.5576_*5577insAAAAAAAATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	112	0.0089	27	c.55 others(38): Show c.5576_*5577insAAAAAATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0108 a0001c0001t0005g0108	1	112	0.0089	27	c.55 others(38): Show c.5576_*5577insAAAATATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130071047	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	296	0.0034	27	c.270 others(46): Show c.2701+5300_2701+5301insCTCTCTCTCTCTCTCTCTCTCTCTCT C	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072825	G G	GTGTGCGT others(20): Show GTGTGCGTGTGCGCGCGCTGCGCGCGCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0249 a0002c0002t0003g0249	1	209	0.0048	27	c.270 others(46): Show c.2701+3522_2701+3523insTGCGCGCGCAGCGCGCGCACACGCAC A	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0028 a0001c0004t0005g0028	1	94	0.0106	27	c.127 others(46): Show c.127-25080_127-25079insAAAAAAAAAAAAAAAAATATATATAT A	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0090 a0002c0001t0001g0090	1	94	0.0106	27	c.127 others(46): Show c.127-25080_127-25079insAAAAAAAAATATATATATATATATAT A	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	94	0.0106	27	c.127 others(46): Show c.127-25080_127-25079insAAATATATATATATATATATATATAT A	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB11_chrX_15276697_15320640	15309967	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	152	0.0066	27	c.181 others(44): Show c.181+5457_181+5458insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6			chrX	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01175.hp1 NA18981.hp1 others(3): Show HG00609.hp2 HG01175.hp1 NA18981.hp1 NA18989.hp1 NA19070.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0012 a0003c0006t0012 a0001c0001t0012 a0003c0006t0012	a0001c0001t0012g0005 a0001c0001t0012g0021 a0001c0001t0012g0071 others(2): Show a0001c0001t0012g0005 a0001c0001t0012g0021 a0001c0001t0012g0071 a0001c0001t0012g0074 a0003c0006t0012g0010	6	92	0.0652	27	c.91 others(36): Show c.919_*920insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176218347	A A	AATATATA others(20): Show AATATATATATTTGTATGATATATAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02970.hp1 others(1): Show HG02630.hp1 HG02647.hp1 HG02970.hp1 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0009 a0001c0005 a0005c0009	a0001c0005t0001 a0005c0009t0001 a0001c0005t0001 a0005c0009t0001	a0001c0005t0001g0189 a0001c0005t0001g0299 a0001c0005t0001g0300 others(1): Show a0001c0005t0001g0189 a0001c0005t0001g0299 a0001c0005t0001g0300 a0005c0009t0001g0185	4	311	0.0129	27	c.671 others(44): Show c.671-1339_671-1338insATTTATATATCATACAAATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218510	T T	TATATAAA others(20): Show TATATAAATATATATGTATGATATATAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0189 a0001c0005t0001g0189	1	385	0.0026	27	c.671 others(44): Show c.671-1502_671-1501insTTATATATCATACATATATATTTATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218552	T T	TATATAAA others(20): Show TATATAAATATATATGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02622.hp2 others(2): Show HG01884.hp1 HG02615.hp2 HG02622.hp2 HG02965.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0144 a0001c0001t0001g0145 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0183	5	399	0.0125	27	c.671 others(44): Show c.671-1544_671-1543insTTATATATCATACATATATATTTATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218621	A A	AATATATA others(20): Show AATATATATATTTGTATGATATATAAAT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp2 NA18963.hp2 others(6): Show NA18943.hp1 NA18947.hp2 NA18963.hp2 NA18964.hp1 NA19000.hp1 NA19002.hp1 NA19057.hp1 NA19081.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0262 others(4): Show a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0281 a0001c0002t0001g0288	9	389	0.0231	27	c.671 others(44): Show c.671-1613_671-1612insATTTATATATCATACAAATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218644	A A	AATATATA others(20): Show AATATATATATTTGTATGATATATAAAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0323 a0001c0002t0002g0323	1	310	0.0032	27	c.671 others(44): Show c.671-1662_671-1636dupATTTATATATCATACAAATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72198354	A A	AGGGGAGG others(20): Show AGGGGAGGGGAGGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG03041.hp1 HG01243.hp2 HG02559.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0041 a0001c0001t0001g0132 a0001c0001t0001g0133	3	137	0.0219	27	c.311 others(44): Show c.311-1366_311-1365insCTCCCCTCCCCTCCCCCTCCCCTCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0024 a0002c0003t0002g0024	1	137	0.0073	27	c.530 others(46): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASIC1_chr12_50052596_50088611	50086479	T T	TTGGTGGT others(20): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG03471.hp2 HG02559.hp2 HG02723.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0060 a0001c0003t0001g0028 a0001c0003t0001g0060	3	114	0.0263	27	c.48 others(38): Show c.4830_*4831insTGGTGGTGGTGGTGGTGGTGGTGGTGG	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding		2869		chr12	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(20): Show ATATATATATATATATACACACACATAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19007.hp2 HG00544.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	2	236	0.0085	27	c.-10 others(44): Show c.-10-1656_-10-1655insATATATACACACACATACTATATATAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASIP_chr20_34236423_34274344	34258700	A A	ATATATAT others(20): Show ATATATATATATATATATACACACATAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01109.hp1 others(15): Show HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01515.hp2 HG01517.hp1 HG02015.hp2 HG02523.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03942.hp1 NA18940.hp1 NA18950.hp2 NA18974.hp1 NA18979.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0060 a0001c0001t0002g0067 others(14): Show a0001c0001t0002g0025 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0187 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239	18	252	0.0714	27	c.-10 others(44): Show c.-10-1656_-10-1655insATATATATACACACATACTATATATAT	ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMTL_chrX_1398139_1457909	1402355	G G	GAATGCAG others(20): Show GAATGCAGCCTCCATCTCCTCCTCTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01070.hp2 others(8): Show HG00323.hp2 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01257.hp1 HG02004.hp2 HG02165.hp2 HG02615.hp1 HG02683.hp1 NA18971.hp2 NA19081.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0002c0038 a0003c0027 others(1): Show a0002c0003 a0002c0038 a0003c0027 a0004c0007	a0002c0003t0002 a0002c0038t0002 a0003c0027t0002 others(1): Show a0002c0003t0002 a0002c0038t0002 a0003c0027t0002 a0004c0007t0002	a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 others(8): Show a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0062 a0002c0003t0002g0090 a0002c0003t0002g0094 a0002c0003t0002g0129 a0002c0038t0002g0071 a0003c0027t0002g0027 a0004c0007t0002g0072	11	183	0.0601	27	c.91 others(36): Show c.913_*914insTTTAGAGGAGGAGATGGAGGCTGCATT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		783		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1411624	G G	GCTGACAC others(20): Show GCTGACACTTCAGCAACACGGCTGTAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(89): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02109.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03486.hp2 HG03540.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18955.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp1 NA18988.hp1 NA18993.hp1 NA18998.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19057.hp1 NA19064.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0016	a0001c0001 a0001c0008 a0001c0010 others(28): Show a0001c0001 a0001c0008 a0001c0010 a0001c0012 a0001c0037 a0002c0003 a0002c0004 a0002c0005 a0002c0011 a0002c0014 a0002c0028 a0002c0029 a0002c0030 a0003c0002 a0003c0006 a0003c0018 a0003c0026 a0003c0039 a0004c0007 a0004c0009 a0005c0024 a0005c0033 a0005c0034 a0006c0017 a0007c0016 a0008c0015 a0009c0020 a0010c0019 a0012c0025 a0014c0022 a0016c0032	a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 others(29): Show a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 a0001c0012t0001 a0001c0037t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0001 a0002c0011t0001 a0002c0014t0001 a0002c0028t0001 a0002c0029t0001 a0002c0030t0001 a0003c0002t0001 a0003c0002t0003 a0003c0006t0001 a0003c0018t0001 a0003c0026t0001 a0003c0039t0001 a0004c0007t0001 a0004c0009t0001 a0005c0024t0001 a0005c0033t0001 a0005c0034t0001 a0006c0017t0001 a0007c0016t0001 a0008c0015t0001 a0009c0020t0001 a0010c0019t0001 a0012c0025t0001 a0014c0022t0001 a0016c0032t0001	a0001c0001t0001g0080 a0001c0008t0001g0045 a0001c0010t0001g0015 others(88): Show a0001c0001t0001g0080 a0001c0008t0001g0045 a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 a0001c0012t0001g0070 a0001c0012t0001g0167 a0001c0037t0001g0005 a0002c0003t0001g0008 a0002c0003t0001g0075 a0002c0004t0001g0009 a0002c0004t0001g0179 a0002c0005t0001g0031 a0002c0005t0001g0044 a0002c0005t0001g0068 a0002c0005t0001g0081 a0002c0005t0001g0091 a0002c0005t0001g0134 a0002c0005t0001g0143 a0002c0005t0001g0156 a0002c0011t0001g0078 a0002c0011t0001g0098 a0002c0011t0001g0103 a0002c0014t0001g0002 a0002c0028t0001g0133 a0002c0029t0001g0174 a0002c0030t0001g0139 a0003c0002t0001g0004 a0003c0002t0001g0012 a0003c0002t0001g0014 a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0047 a0003c0002t0001g0064 a0003c0002t0001g0065 a0003c0002t0001g0074 a0003c0002t0001g0082 a0003c0002t0001g0083 a0003c0002t0001g0105 a0003c0002t0001g0108 a0003c0002t0001g0111 a0003c0002t0001g0145 a0003c0002t0001g0146 a0003c0002t0001g0147 a0003c0002t0001g0149 a0003c0002t0001g0154 a0003c0002t0001g0161 a0003c0002t0001g0162 a0003c0002t0001g0163 a0003c0002t0001g0168 a0003c0002t0001g0173 a0003c0002t0001g0175 a0003c0002t0001g0176 a0003c0002t0003g0100 a0003c0006t0001g0010 a0003c0006t0001g0016 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0069 a0003c0006t0001g0092 a0003c0006t0001g0102 a0003c0006t0001g0136 a0003c0006t0001g0151 a0003c0018t0001g0048 a0003c0026t0001g0155 a0003c0039t0001g0011 a0004c0007t0001g0007 a0004c0007t0001g0026 a0004c0007t0001g0059 a0004c0007t0001g0060 a0004c0007t0001g0088 a0004c0007t0001g0122 a0004c0007t0001g0135 a0004c0007t0001g0137 a0004c0007t0001g0142 a0004c0009t0001g0030 a0004c0009t0001g0085 a0005c0024t0001g0178 a0005c0033t0001g0166 a0005c0034t0001g0113 a0006c0017t0001g0182 a0006c0017t0001g0183 a0007c0016t0001g0170 a0007c0016t0001g0171 a0008c0015t0001g0169 a0008c0015t0001g0172 a0009c0020t0001g0141 a0010c0019t0001g0017 a0012c0025t0001g0164 a0014c0022t0001g0157 a0016c0032t0001g0152	92	183	0.5027	27	c.164 others(46): Show c.1645+1107_1645+1108insTTTACAGCCGTGTTGCTGAAGTGTCA G	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1411625	C C	CTGACACT others(20): Show CTGACACTTCAGCAACACGGCTGTAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0126 a0004c0009t0001g0126	1	183	0.0055	27	c.164 others(46): Show c.1645+1106_1645+1107insATTTACAGCCGTGTTGCTGAAGTGTC A	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1625547	A A	AGGAAGGG others(20): Show AGGAAGGGAGGGAGGGAGGGAGGGAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	221	0.0045	27	c.374 others(44): Show c.374+1151_374+1152insAAGGGAGGGAGGGAGGGAGGGAAAGGG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1625551	A A	AGGGAGGG others(20): Show AGGGAGGGAGGGAGGGAGGGAAAGGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01978.hp1 HG02080.hp2 others(8): Show HG00735.hp1 HG01978.hp1 HG02080.hp2 HG02155.hp2 HG02293.hp1 HG02293.hp2 HG03669.hp1 NA18968.hp2 NA18975.hp1 NA18998.hp1 NA19074.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0077 others(8): Show a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0002g0169 a0001c0003t0001g0058 a0002c0002t0001g0094 a0002c0002t0001g0126 a0002c0002t0001g0185 a0002c0002t0002g0095 a0002c0002t0002g0188 a0004c0004t0001g0168	11	139	0.0791	27	c.374 others(44): Show c.374+1176_374+1177insGGGGGGGAGGGAGGGAGGGAGGGAAAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1647128	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01993.hp2 HG04184.hp1 others(5): Show HG00597.hp2 HG01993.hp2 HG04184.hp1 NA19003.hp2 NA19010.hp2 NA19064.hp2 NA19065.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001	a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0002g0200 others(5): Show a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0002g0200 a0001c0003t0001g0084 a0001c0003t0001g0090 a0001c0003t0001g0093 a0001c0003t0002g0149 a0002c0002t0001g0129	8	175	0.0457	27	c.41 others(38): Show c.4114_*4115insTTCTTTCTTTCTTTCTTTCTTTCTTTC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding		4048		chrX	TogoVar
ASPM_chr1_197079127_197151669	197145868	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0039 a0004c0005t0003g0039	1	289	0.0035	27	c.297 others(42): Show c.297+272_297+273insATATATATATATATATATATATATATA	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	1/27			chr1	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0205 a0001c0003t0001g0205	1	28	0.0357	27	c.-18 others(38): Show c.-1897_-1896insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		1665		chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02965.hp2 HG02976.hp2 others(1): Show HG02109.hp1 HG02965.hp2 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	4	291	0.0137	27	c.42 others(38): Show c.4205_*4206insTTCTTCTTCTTCTTCTTCTTCTTCTTC	ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding		3637		chr2	TogoVar
ASS1_chr9_130439961_130506274	130465056	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0142 a0004c0006t0001g0142	1	189	0.0053	27	c.420 others(42): Show c.420+890_420+891insATATATATATATTTTTTTTTTTTTTTT	ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar

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