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
ACACB_chr12_109111587_109273226	109133864	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp2 HG00735.hp2 HG02145.hp2	a0001 a0007 a0001 a0007	a0001c0023 a0007c0037 a0001c0023 a0007c0037	a0001c0023t0004 a0007c0037t0004 a0001c0023t0004 a0007c0037t0004	a0001c0023t0004g0121 a0007c0037t0004g0201 a0001c0023t0004g0121 a0007c0037t0004g0201	2	242	0.0083	13	c.-9- others(28): Show c.-9-5533_-9-5532insATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109167654	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0288 a0001c0016t0009g0288	1	302	0.0033	13	c.787 others(28): Show c.787-242_787-241insATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109206428	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02523.hp1 others(2): Show HG02109.hp2 HG02145.hp2 HG02523.hp1 HG03486.hp2 HG03579.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0016 a0002c0092 a0006c0026 others(2): Show a0001c0016 a0002c0092 a0006c0026 a0007c0037 a0007c0104	a0001c0016t0009 a0002c0092t0010 a0006c0026t0002 others(2): Show a0001c0016t0009 a0002c0092t0010 a0006c0026t0002 a0007c0037t0004 a0007c0104t0004	a0001c0016t0009g0288 a0002c0092t0010g0192 a0006c0026t0002g0156 others(2): Show a0001c0016t0009g0288 a0002c0092t0010g0192 a0006c0026t0002g0156 a0007c0037t0004g0201 a0007c0104t0004g0183	5	178	0.0281	13	c.291 others(30): Show c.2914-278_2914-266dupAAAAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	19/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111706782	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03130.hp2 HG02257.hp2 HG02717.hp1 HG03130.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0323 a0002c0003t0003g0319 a0002c0003t0003g0320 a0002c0003t0003g0323	3	102	0.0294	13	c.531 others(28): Show c.531+851_531+852insATATTTTTTTTTT	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111706782	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02809.hp2 NA19030.hp2 HG01943.hp2 HG02809.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0318 a0002c0003t0003g0321 a0002c0003t0003g0322 a0002c0003t0003g0318 a0002c0003t0003g0321 a0002c0003t0003g0322	3	102	0.0294	13	c.531 others(28): Show c.531+851_531+852insATTTTTTTTTTTT	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD11_chr3_132553141_132664809	132568801	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18955.hp2 others(3): Show HG01069.hp1 HG01071.hp2 NA18955.hp2 NA18964.hp2 NA18968.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0280 a0001c0001t0002g0283 others(2): Show a0001c0001t0002g0017 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0286 a0001c0001t0002g0288	6	118	0.0508	13	c.200 others(32): Show c.2001+6958_2001+6970dupTTTTTTTTTTTTT	ACAD11	ENSG00000240303.8	transcript	ENST00000264990.11	protein_coding	17/19			chr3	TogoVar
ACADL_chr2_210182923_210230447	210183802	A A	AAGAAAGT others(6): Show AAGAAAGTTCTTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	272	0.0037	13	c.51 others(24): Show c.5158_*5159insCTAAGAACTTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding		4120		chr2	TogoVar
ACADM_chr1_75719709_75768679	75753795	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00741.hp2 others(10): Show HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01261.hp2 HG02647.hp2 HG02738.hp1 HG03225.hp1 NA18963.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0003 a0001c0005t0001 a0001c0002t0001 a0001c0002t0003 a0001c0005t0001	a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0302 others(10): Show a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0302 a0001c0002t0001g0305 a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0003g0308 a0001c0002t0003g0320 a0001c0002t0003g0325 a0001c0002t0003g0328 a0001c0002t0003g0330 a0001c0002t0003g0332 a0001c0005t0001g0321	13	98	0.1327	13	c.945 others(30): Show c.945+3256_945+3268dupTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADM_chr1_75719709_75768679	75760544	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18961.hp1 HG02647.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0002g0230 a0001c0001t0001g0042 a0001c0001t0002g0230	2	23	0.0870	13	c.946 others(28): Show c.946-554_946-542dupAAAAAAAAAAAAA	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAN_chr15_88798436_88880353	88801586	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01109.hp1 others(21): Show HG00597.hp2 HG00609.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02572.hp2 HG03225.hp1 HG03654.hp1 HG03669.hp2 HG03942.hp2 NA18943.hp2 NA18949.hp1 NA18949.hp2 NA18969.hp2 NA18980.hp2 NA18990.hp1 NA18993.hp2 NA18995.hp1 NA19005.hp1 NA19005.hp2	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0017 a0019 a0022 a0037 a0041 a0054 a0069 a0072 a0074	a0001c0001 a0001c0014 a0002c0003 others(17): Show a0001c0001 a0001c0014 a0002c0003 a0003c0002 a0004c0005 a0004c0013 a0005c0006 a0006c0004 a0007c0086 a0007c0089 a0009c0007 a0017c0069 a0019c0045 a0022c0101 a0037c0064 a0041c0053 a0054c0144 a0069c0102 a0072c0145 a0074c0071	a0001c0001t0001 a0001c0014t0001 a0002c0003t0001 others(17): Show a0001c0001t0001 a0001c0014t0001 a0002c0003t0001 a0003c0002t0001 a0004c0005t0001 a0004c0013t0001 a0005c0006t0001 a0006c0004t0001 a0007c0086t0001 a0007c0089t0001 a0009c0007t0001 a0017c0069t0001 a0019c0045t0001 a0022c0101t0004 a0037c0064t0001 a0041c0053t0001 a0054c0144t0011 a0069c0102t0005 a0072c0145t0001 a0074c0071t0001	a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0014t0001g0132 others(21): Show a0001c0001t0001g0027 a0001c0001t0001g0080 a0001c0014t0001g0132 a0002c0003t0001g0065 a0003c0002t0001g0133 a0004c0005t0001g0028 a0004c0013t0001g0035 a0005c0006t0001g0021 a0005c0006t0001g0143 a0006c0004t0001g0089 a0006c0004t0001g0140 a0007c0086t0001g0076 a0007c0089t0001g0020 a0009c0007t0001g0066 a0017c0069t0001g0356 a0019c0045t0001g0347 a0022c0101t0004g0045 a0037c0064t0001g0163 a0041c0053t0001g0042 a0041c0053t0001g0050 a0054c0144t0011g0162 a0069c0102t0005g0015 a0072c0145t0001g0359 a0074c0071t0001g0361	24	213	0.1127	13	c.-22 others(24): Show c.-2231_-2230insTTTTTTTTTTTTT	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding		1849		chr15	TogoVar
ACAP1_chr17_7331529_7356477	7354200	G G	GATGTATG others(6): Show GATGTATGGGAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	444	0.0023	13	c.28 others(24): Show c.2805_*2806insATGTATGGGAGCT	ACAP1	ENSG00000072818.12	transcript	ENST00000158762.8	protein_coding		2724		chr17	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp2 HG01346.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0035 a0001c0002t0004 a0001c0002t0035	a0001c0002t0004g0045 a0001c0002t0035g0057 a0001c0002t0004g0045 a0001c0002t0035g0057	2	250	0.0080	13	c.176 others(30): Show c.1765+110_1765+111insATATATTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0024 a0001c0002t0004g0024	1	249	0.0040	13	c.176 others(30): Show c.1765+110_1765+111insATATATATTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195294631	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0058 a0001c0002t0004g0058	1	289	0.0035	13	c.176 others(28): Show c.1765+87_1765+88insATATATATATATA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195372987	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01074.hp1 others(17): Show HG00280.hp2 HG01070.hp2 HG01074.hp1 HG01168.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG02004.hp1 HG02258.hp1 HG02273.hp2 HG03669.hp2 HG03927.hp1 NA18949.hp1 NA18957.hp1 NA18961.hp1 NA18965.hp2 NA18984.hp2 NA18990.hp1 NA19086.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014	a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0011 others(17): Show a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0107 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0123 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0008g0101 a0001c0001t0012g0118 a0001c0001t0014g0106	20	190	0.1053	13	c.285 others(30): Show c.285+8009_285+8021dupTTTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195377138	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp1 HG01255.hp2 others(9): Show HG01069.hp1 HG01175.hp1 HG01255.hp2 HG02300.hp1 HG02818.hp1 HG03195.hp1 HG03540.hp2 HG03654.hp2 HG04199.hp1 HG06807.hp1 NA18993.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0031	a0001c0001t0001g0240 a0001c0001t0001g0266 a0001c0001t0001g0270 others(9): Show a0001c0001t0001g0240 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0290 a0001c0001t0002g0286 a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0010g0228 a0001c0001t0010g0282 a0001c0001t0017g0302 a0001c0001t0017g0306 a0001c0001t0031g0214	12	104	0.1154	13	c.285 others(30): Show c.285+3858_285+3870dupAAAAAAAAAAAAA	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	4/22			chr3	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19010.hp1 NA19010.hp2 HG01069.hp2 NA19010.hp1 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0084 a0001c0001t0001g0085 a0002c0002t0002g0331 a0001c0001t0001g0084 a0001c0001t0001g0085 a0002c0002t0002g0331	3	15	0.2000	13	c.73- others(26): Show c.73-547_73-535dupTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACAT1_chr11_108116567_108152603	108143386	A A	AAGAATAT others(6): Show AAGAATATGGGATT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0246 a0002c0002t0002g0246	1	384	0.0026	13	c.941 others(28): Show c.941-594_941-582dupAATATGGGATTAG	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACAT1_chr11_108116567_108152603	108151631	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0326 a0001c0003t0003g0326	1	70	0.0143	13	c.42 others(24): Show c.4241_*4242insAAAAAAAAAAAAA	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding		4029		chr11	TogoVar
ACBD3_chr1_226139679_226191741	226149529	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0078 a0002c0002t0001g0078	1	52	0.0192	13	c.137 others(32): Show c.1376-2721_1376-2709dupAAAAAAAAAAAAA	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	7/7			chr1	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp1 HG01109.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0049 a0001c0001t0002g0004 a0001c0001t0002g0049	2	252	0.0079	13	c.375 others(30): Show c.375+2932_375+2933insATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACBD5_chr10_27190214_27245797	27228816	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp2 HG03239.hp1 others(2): Show HG01175.hp1 HG02280.hp2 HG03239.hp1 HG06807.hp1 NA18957.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0050 a0001c0001t0002g0100 a0002c0004t0001g0008 others(2): Show a0001c0001t0002g0050 a0001c0001t0002g0100 a0002c0004t0001g0008 a0002c0004t0001g0194 a0002c0004t0001g0203	5	341	0.0147	13	c.375 others(30): Show c.375+2931_375+2932insTATATATATATAT	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACE2_chrX_15556033_15605960	15601481	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02965.hp1 others(2): Show HG02451.hp1 HG02630.hp2 HG02965.hp1 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0002g0041 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0005t0001g0044	5	113	0.0442	13	c.-57 others(22): Show c.-571_-570insACAAAAAAAAAAA	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding		522		chrX	TogoVar
ACER1_chr19_6301142_6338612	6329356	T T	TAGAATAG others(6): Show TAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	28	0.0357	13	c.93+ others(28): Show c.93+4102_93+4103insTCTATTCTATTCT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6335906	C C	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	367	0.0027	13	c.-23 others(24): Show c.-2356_-2355insAAAAAAAAGAAAA	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding		2295		chr19	TogoVar
ACER2_chr9_19404009_19457505	19439344	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0307 a0001c0001t0014g0307	1	207	0.0048	13	c.503 others(30): Show c.503+4261_503+4273dupTTTTTTTTTTTTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACER3_chr11_76855918_77031797	76856124	A A	AAATAAAA others(6): Show AAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0105 a0001c0003t0016g0105	1	344	0.0029	13	c.-48 others(24): Show c.-4853_-4852insAATAAAATAAAAT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding		4793		chr11	TogoVar
ACER3_chr11_76855918_77031797	76875107	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01993.hp1 HG02129.hp1 others(1): Show HG01167.hp2 HG01993.hp1 HG02129.hp1 NA18960.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0015 a0002c0004t0091 a0002c0004t0006 a0002c0004t0015 a0002c0004t0091	a0002c0004t0006g0305 a0002c0004t0006g0313 a0002c0004t0015g0251 others(1): Show a0002c0004t0006g0305 a0002c0004t0006g0313 a0002c0004t0015g0251 a0002c0004t0091g0312	4	89	0.0449	13	c.103 others(32): Show c.103+14042_103+14054dupTTTTTTTTTTTTT	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005982	T T	TTATATAT others(6): Show TTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	247	0.0040	13	c.497 others(30): Show c.497+7161_497+7162insTATATATATATAC	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10			chr11	TogoVar
ACER3_chr11_76855918_77031797	77024272	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG01981.hp1 others(9): Show HG00544.hp1 HG00621.hp1 HG01981.hp1 HG02273.hp1 HG02523.hp2 NA18957.hp1 NA18989.hp2 NA19000.hp1 NA19060.hp1 NA19068.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0033 a0001c0001t0062 others(6): Show a0001c0001t0022 a0001c0001t0033 a0001c0001t0062 a0001c0001t0065 a0001c0001t0076 a0001c0001t0082 a0001c0001t0083 a0001c0001t0092 a0001c0001t0093	a0001c0001t0022g0077 a0001c0001t0022g0079 a0001c0001t0022g0081 others(9): Show a0001c0001t0022g0077 a0001c0001t0022g0079 a0001c0001t0022g0081 a0001c0001t0033g0024 a0001c0001t0033g0056 a0001c0001t0062g0036 a0001c0001t0065g0080 a0001c0001t0076g0047 a0001c0001t0082g0050 a0001c0001t0083g0051 a0001c0001t0092g0076 a0001c0001t0093g0088	12	88	0.1364	13	c.39 others(24): Show c.3962_*3974dupAAAAAAAAAAAAA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	11/11	3975	INFO_REALIGN_3_PRIME	chr11	TogoVar
ACE_chr17_63472061_63503373	63479713	C C	CGTTGAAG others(6): Show CGTTGAAGACTTCA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0139 a0001c0002t0002g0139	1	372	0.0027	13	c.512 others(26): Show c.512-55_512-43dupGTTGAAGACTTCA	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
ACKR2_chr3_42804445_42872286	42860164	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA18977.hp2 NA18999.hp2 others(1): Show HG00738.hp2 NA18977.hp2 NA18999.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0128 a0001c0001t0001g0154 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0231	4	117	0.0342	13	c.-37 others(30): Show c.-37-4289_-37-4277dupAAAAAAAAAAAAA	ACKR2	ENSG00000144648.16	transcript	ENST00000422265.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACLY_chr17_41861918_41923951	41879647	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp2 HG01361.hp1 HG01071.hp2 HG01109.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0230 a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0230	3	14	0.2143	13	c.226 others(30): Show c.2266-736_2266-724dupTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41882367	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG02572.hp2 HG00408.hp1 HG00735.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0102 a0001c0001t0001g0207 a0001c0001t0001g0208	3	16	0.1875	13	c.226 others(30): Show c.2265+742_2265+754dupTTTTTTTTTTTTT	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	20/28			chr17	TogoVar
ACLY_chr17_41861918_41923951	41921739	G G	GTGGGAAA others(6): Show GTGGGAAAATCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	292	0.0034	13	c.-28 others(24): Show c.-2896_-2884dupAGTGATTTTCCCA	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding		2789		chr17	TogoVar
ACMSD_chr2_134833616_134907034	134834851	G G	GGGAGAGG others(6): Show GGGAGAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	128	0.0078	13	c.-38 others(24): Show c.-3832_-3831insGGAGAGGAAGGAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3764		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134840167	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG01099.hp2 others(12): Show HG00140.hp2 HG01070.hp1 HG01099.hp2 HG01496.hp1 HG01978.hp2 HG02074.hp1 HG03654.hp2 NA18906.hp1 NA18961.hp1 NA18974.hp2 NA18988.hp1 NA19003.hp1 NA19058.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(12): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096	15	157	0.0955	13	c.57+ others(28): Show c.57+1442_57+1454dupAAAAAAAAAAAAA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(6): Show ATTATTATTATTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	262	0.0038	13	c.850 others(32): Show c.850-12093_850-12092insATTATTATTTTTT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134903897	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(55): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00741.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp1 HG01517.hp2 HG01978.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp2 HG02148.hp2 HG02523.hp1 HG02809.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03927.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp2 NA18982.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0008c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0006c0006t0001 a0008c0008t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 others(54): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0001g0118 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0215 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0002c0002t0001g0197 a0002c0002t0001g0201 a0003c0003t0001g0021 a0003c0003t0001g0268 a0006c0006t0001g0239 a0008c0008t0001g0327	58	137	0.4234	13	c.20 others(24): Show c.2037_*2038insTTTTTTTTTTTTT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		1864		chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02922.hp1 HG01099.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0012 a0002c0003 a0002c0012	a0002c0003t0001 a0002c0012t0001 a0002c0003t0001 a0002c0012t0001	a0002c0003t0001g0016 a0002c0012t0001g0016 a0002c0003t0001g0016 a0002c0012t0001g0016	2	96	0.0208	13	c.-43 others(24): Show c.-4302_-4301insAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CCAAAAAA others(6): Show CCAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	95	0.0105	13	c.-43 others(24): Show c.-4302_-4301insCAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT11_chr1_54543228_54615329	54599177	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0252 a0002c0002t0009g0252	1	330	0.0030	13	c.765 others(28): Show c.765-119_765-118insTATATATATATAT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15			chr1	TogoVar
ACOT11_chr1_54543228_54615329	54599179	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0101 a0002c0002t0004g0101	1	336	0.0030	13	c.765 others(28): Show c.765-117_765-116insTATATATATATAT	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15			chr1	TogoVar
ACOT12_chr5_81324996_81399134	81361077	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0002 a0005c0004t0002	a0005c0004t0002g0214 a0005c0004t0002g0214	1	175	0.0057	13	c.361 others(30): Show c.361-1052_361-1040dupTTTTTTTTTTTTT	ACOT12	ENSG00000172497.9	transcript	ENST00000307624.8	protein_coding	4/14			chr5	TogoVar
ACOT2_chr14_73564213_73580655	73576793	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	361	0.0028	13	c.12 others(24): Show c.1280_*1281insAAAAAAAAAAAAA	ACOT2	ENSG00000119673.16	transcript	ENST00000238651.10	protein_coding		1139		chr14	TogoVar
ACOT6_chr14_73607517_73624888	73615388	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0035 a0007c0007t0001g0035	1	323	0.0031	13	c.462 others(30): Show c.462-1599_462-1587dupAAAAAAAAAAAAA	ACOT6	ENSG00000205669.4	transcript	ENST00000645972.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
ACOT7_chr1_6259272_6398767	6306209	A A	AGGGGGAG others(6): Show AGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0195 a0001c0001t0004g0195	1	237	0.0042	13	c.713 others(32): Show c.713-11242_713-11230dupCTCCCCCTCCCCC	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8			chr1	TogoVar
ACOT9_chrX_23696055_23748276	23742236	G G	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18956.hp2 HG02056.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0226 a0001c0001t0023g0144 a0001c0001t0002g0226 a0001c0001t0023g0144	2	294	0.0068	13	c.20+ others(26): Show c.20+888_20+889insTCTCTCTCTCTCT	ACOT9	ENSG00000123130.17	transcript	ENST00000379303.10	protein_coding	1/15			chrX	TogoVar
ACOX1_chr17_75936507_75984166	75968435	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp2 NA18522.hp2 HG03098.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0030 a0001c0001t0048 a0001c0003t0044 a0001c0001t0030 a0001c0001t0048 a0001c0003t0044	a0001c0001t0030g0027 a0001c0001t0048g0053 a0001c0003t0044g0047 a0001c0001t0030g0027 a0001c0001t0048g0053 a0001c0003t0044g0047	3	157	0.0191	13	c.270 others(30): Show c.270-8073_270-8061dupTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75970184	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03491.hp1 HG03471.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0082 a0001c0001t0011g0028 a0001c0001t0003g0082 a0001c0001t0011g0028	2	155	0.0129	13	c.269 others(30): Show c.269+8337_269+8349dupTTTTTTTTTTTTT	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar

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