Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASIP_chr20_34236423_34274344	34258690	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19067.hp1 HG02040.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0085 a0001c0001t0001g0088	2	306	0.0065	30	c.-10 others(47): Show c.-10-1674_-10-1673insTATATATATATATATATATATATATATA CA		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASMT_chrX_1610059_1648081	1613185	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	223	0.0045	30	c.-20 others(41): Show c.-2015_-2014insTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding					1873		chrX	TogoVar
ASMT_chrX_1610059_1648081	1625545	G G	GAAGGAAG others(23): Show GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	223	0.0045	30	c.374 others(47): Show c.374+1147_374+1148insAAGGAAGGGAGGGAGGGAGGGAGGGAGG GA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	3/8						chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665608	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	340	0.0029	30	c.-93 others(45): Show c.-93+184_-93+185insGTGTATATATATATATATATATATATATAT		ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASS1_chr9_130439961_130506274	130454794	C C	CCATCCAT others(23): Show CCATCCATCACCCACCCATCCATTCACCCAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02615.hp2 HG03579.hp1 HG02145.hp2 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137	3	374	0.0080	30	c.174 others(45): Show c.174+429_174+430insACCCACCCATCCATTCACCCATCATCCATC		ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130465056	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0147 a0004c0006t0001g0147	1	374	0.0027	30	c.420 others(45): Show c.420+890_420+891insATATATATATATATTTTTTTTTTTTTTTTT		ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
ASS1_chr9_130439961_130506274	130504674	G G	GGGGGGGG others(23): Show GGGGGGGGGGGGGGGGTTGGGGGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	374	0.0027	30	c.36 others(41): Show c.3653_*3654insGGGGGGGGGGGGGGGTTGGGGGGGGGGGGT		ASS1	ENSG00000130707.18	transcript	ENST00000352480.10	protein_coding					3401		chr9	TogoVar
ASTN2_chr9_116418112_117420057	116632194	G G	GAGAGGGA others(23): Show GAGAGGGAGAGAGAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0088 a0001c0009t0008g0088	1	102	0.0098	30	c.307 others(51): Show c.3073-11752_3073-11751insTTTTCTTTCTTTCTTTCTCTCTCT CCCTCT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116718972	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19012.hp1 NA21309.hp2 HG01081.hp1 NA19012.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0009 a0001c0002t0004 a0001c0005t0005 a0001c0001t0009 a0001c0002t0004 a0001c0005t0005	a0001c0001t0009g0086 a0001c0002t0004g0043 a0001c0005t0005g0048 a0001c0001t0009g0086 a0001c0002t0004g0043 a0001c0005t0005g0048	3	102	0.0294	30	c.280 others(49): Show c.2806+6798_2806+6799insTATATATATATATATATATATATATA TATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	16/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003530	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0004 a0001c0012 a0002c0004	a0001c0012t0001 a0002c0004t0001 a0001c0012t0001 a0002c0004t0001	a0001c0012t0001g0098 a0002c0004t0001g0004 a0001c0012t0001g0098 a0002c0004t0001g0004	2	102	0.0196	30	c.159 others(49): Show c.1591+4561_1591+4562insACACACACACACACACACACACACAC ACAC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117003953	C C	CGCGCGCG others(23): Show CGCGCGCGCGCGCGCGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0044 a0001c0003t0002g0044	1	102	0.0098	30	c.159 others(49): Show c.1591+4138_1591+4139insACACACACACACACACGCGCGCGCGC GCGC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	7/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117116037	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	102	0.0098	30	c.116 others(51): Show c.1169-19887_1169-19886insATATATATATATATATATATATAT ATATAT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117120049	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	102	0.0098	30	c.116 others(51): Show c.1168+21276_1168+21277insGTATATATATATATATATATATAT ATATAT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117147438	A A	AACACACA others(23): Show AACACACACACACACACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG01109.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0021 a0001c0003 a0001c0021	a0001c0003t0001 a0001c0021t0006 a0001c0003t0001 a0001c0021t0006	a0001c0003t0001g0055 a0001c0021t0006g0056 a0001c0003t0001g0055 a0001c0021t0006g0056	2	102	0.0196	30	c.101 others(49): Show c.1016-5961_1016-5960insGTGTGTGTGTGTATGTGTGTGTGTGT GTGT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp2 HG03540.hp2 others(1): Show HG01081.hp2 HG02004.hp2 HG03540.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0010t0004	a0001c0001t0004g0060 a0001c0001t0005g0096 a0001c0002t0001g0093 others(1): Show a0001c0001t0004g0060 a0001c0001t0005g0096 a0001c0002t0001g0093 a0001c0010t0004g0009	4	102	0.0392	30	c.631 others(49): Show c.631-10794_631-10793insTATATATATATATATATATATATATA CATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117225535	G G	GTATGTAT others(23): Show GTATGTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0065 a0001c0001t0008g0065	1	102	0.0098	30	c.631 others(49): Show c.631-10794_631-10793insTATATATATATATATATATATACATA CATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22						chr9	TogoVar
ASXL2_chr2_25728753_25883487	25849064	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG00733.hp2 others(31): Show HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01074.hp1 HG01167.hp2 HG01192.hp2 HG01358.hp2 HG01884.hp2 HG01943.hp1 HG02056.hp2 HG02109.hp2 HG02148.hp1 HG02280.hp1 HG02523.hp1 HG02735.hp1 HG02886.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03942.hp2 NA18951.hp2 NA18975.hp1 NA18977.hp2 NA19010.hp1 NA19043.hp1 NA19079.hp1 NA19089.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0008 a0002c0003 others(2): Show a0001c0001 a0001c0008 a0002c0003 a0006c0007 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0037 a0001c0001t0040 a0001c0001t0052 a0001c0008t0030 a0002c0003t0008 a0006c0007t0001 a0007c0010t0013	a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0147 others(31): Show a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0026 a0001c0001t0002g0070 a0001c0001t0004g0170 a0001c0001t0004g0185 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0009g0043 a0001c0001t0012g0161 a0001c0001t0017g0003 a0001c0001t0017g0005 a0001c0001t0018g0222 a0001c0001t0020g0030 a0001c0001t0023g0188 a0001c0001t0024g0073 a0001c0001t0026g0036 a0001c0001t0026g0037 a0001c0001t0037g0019 a0001c0001t0040g0102 a0001c0001t0052g0195 a0001c0008t0030g0093 a0002c0003t0008g0077 a0002c0003t0008g0078 a0006c0007t0001g0108 a0007c0010t0013g0008	34	222	0.1532	30	c.58- others(45): Show c.58-3502_58-3501insATATATATATATATATATATATATATATAT		ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12						chr2	TogoVar
ASXL3_chr18_33573219_33756195	33578458	C C	CCCGCCGC others(23): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0006 a0001c0001t0080g0006	1	220	0.0046	30	c.-16 others(39): Show c.-162_-133dupGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/12				132	INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp2 HG03516.hp1 HG03579.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0027 a0004c0004t0078 a0001c0001t0027 a0004c0004t0078	a0001c0001t0027g0034 a0004c0004t0078g0215 a0001c0001t0027g0034 a0004c0004t0078g0215	2	220	0.0091	30	c.55- others(45): Show c.55-5799_55-5798insTATATATATATATATATATATATATATATA		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33601785	G G	GTTTATAT others(23): Show GTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0067 a0002c0002t0067	a0002c0002t0067g0169 a0002c0002t0067g0169	1	220	0.0046	30	c.55- others(45): Show c.55-5808_55-5807insTTATATATATATATATATATATATATATAT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33731020	T T	TCTTTGCT others(23): Show TCTTTGCTGGCTTTGATTAGACATTATCCAG	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	220	0.0046	30	c.880 others(45): Show c.880-944_880-915dupTGCTGGCTTTGATTAGACATTATCCAGCTT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATAD1_chr10_87746512_87823226	87798623	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	360	0.0028	30	c.163 others(47): Show c.163-5869_163-5868insACACACACACACACACACACACACACAC AC		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD1_chr10_87746512_87823226	87798625	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG01081.hp1 others(5): Show HG00280.hp2 HG00609.hp1 HG01081.hp1 HG02818.hp2 HG03017.hp1 NA18943.hp2 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0002g0038 a0001c0001t0002g0117 a0001c0001t0002g0118 others(5): Show a0001c0001t0002g0038 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0003g0039 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0097 a0001c0001t0019g0089	8	360	0.0222	30	c.163 others(47): Show c.163-5900_163-5871dupACACACACACACACACACACACACACAC AC		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding	2/9						chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(23): Show AAGGAAGGAAGGAAGAAAGGAAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	246	0.0041	30	c.66 others(41): Show c.6623_*6624insCCCTTCCCTTTCCTTTCTTCCTTCCTTCCT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(23): Show AAGGAAGGAAGGAAGGAAGGAAAGGGAAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	246	0.0041	30	c.66 others(41): Show c.6623_*6624insCCCTTCCCTTTCCTTCCTTCCTTCCTTCCT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23760699	T T	TATATATA others(23): Show TATATATACACACACACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	246	0.0041	30	c.339 others(49): Show c.3394+1509_3394+1510insGTGTATATGTGTGTGTGTGTGTGTAT ATAT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	24/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23792962	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	246	0.0041	30	c.264 others(49): Show c.2641-4316_2641-4315insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	19/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG04228.hp2 HG01168.hp2 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0086 a0004c0007t0002g0062 a0001c0001t0002g0086 a0004c0007t0002g0062	2	246	0.0081	30	c.902 others(47): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0007 a0003c0002t0007	a0003c0002t0007g0010 a0003c0002t0007g0010	1	278	0.0036	30	c.164 others(49): Show c.1646+1524_1646+1525insATATATATATATATATATATTTTTTT TTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123354864	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0008	1	278	0.0036	30	c.164 others(49): Show c.1646+1524_1646+1525insATATATATATATATATATATATATAT TTTT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	13/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 NA18965.hp1 HG00408.hp1 HG00621.hp2 NA18965.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0020 a0001c0001 a0010c0020	a0001c0001t0001 a0001c0001t0002 a0010c0020t0001 a0001c0001t0001 a0001c0001t0002 a0010c0020t0001	a0001c0001t0001g0249 a0001c0001t0002g0087 a0010c0020t0001g0231 a0001c0001t0001g0249 a0001c0001t0002g0087 a0010c0020t0001g0231	3	278	0.0108	30	c.320 others(47): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27						chr8	TogoVar
ATAD2_chr8_123314850_123401447	123389960	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	278	0.0036	30	c.171 others(47): Show c.171+6226_171+6227insTATATATATATATATATATATATATATA TA		ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	1/27						chr8	TogoVar
ATF7_chr12_53507054_53631382	53529734	C C	CACACACA others(23): Show CACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	330	0.0030	30	c.927 others(47): Show c.927+2009_927+2010insATATGTGTGTGTGTGTGTGTGTGTGTGT GT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	330	0.0030	30	c.48+ others(47): Show c.48+13586_48+13587insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	330	0.0030	30	c.48+ others(47): Show c.48+13109_48+13110insAAAATATATATATATATATATATATATA TA		ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11						chr12	TogoVar
ATG10_chr5_81967023_82261133	81967163	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG01884.hp1 others(6): Show HG00741.hp2 HG01261.hp1 HG01884.hp1 HG02717.hp2 HG03239.hp1 HG03486.hp2 HG03669.hp1 NA18951.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0002c0002t0002	a0001c0001t0001g0167 a0001c0001t0005g0013 a0001c0001t0005g0026 others(6): Show a0001c0001t0001g0167 a0001c0001t0005g0013 a0001c0001t0005g0026 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0009g0152 a0001c0001t0011g0100 a0001c0001t0011g0101 a0002c0002t0002g0128	9	226	0.0398	30	c.-51 others(41): Show c.-5156_-5155insAAAATAAAATAAAATAAAATAAAATAAAAT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding					4859		chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCCTTCTTTCTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02004.hp1 HG02735.hp2 others(1): Show HG01081.hp2 HG02004.hp1 HG02735.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0007 a0001c0001t0005 a0003c0003t0007	a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 others(1): Show a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0003c0003t0007g0038	4	226	0.0177	30	c.108 others(47): Show c.108+5681_108+5682insTTTCTTTCTTTCCTTCTTTCTTTCTTTT CT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7						chr5	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCTTT others(23): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0073 a0002c0002t0008g0073	1	226	0.0044	30	c.108 others(47): Show c.108+5681_108+5682insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7						chr5	TogoVar
ATG10_chr5_81967023_82261133	81993396	T T	TTCTTTTC others(23): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0183 a0004c0004t0004g0183	1	226	0.0044	30	c.108 others(47): Show c.108+5747_108+5748insATCTTTTCTTTTCTTTTCTTTTCTTTTC TT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118402	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	226	0.0044	30	c.217 others(49): Show c.217-45994_217-45993insATATATATATATATATATATATATAT GTAT		ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG13_chr11_46612553_46679518	46654281	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	218	0.0046	30	c.459 others(47): Show c.459-1951_459-1950insATATATATATATATATATATATATATAT AT		ATG13	ENSG00000175224.17	transcript	ENST00000683050.1	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATG4A_chrX_108086778_108159671	108148020	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	249	0.0040	30	c.815 others(47): Show c.815-2105_815-2076dupATATATATATATATATATATATATATAT AT		ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12					INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG5_chr6_106179476_106330760	106208203	T T	TACATATG others(23): Show TACATATGTGTATATATACATCTGTGTAAAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG04228.hp1 NA18965.hp1 HG03209.hp2 HG04228.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0073 a0001c0001t0001g0123 a0001c0001t0001g0132	3	358	0.0084	30	c.574 others(47): Show c.574-6144_574-6115dupGTTTACACAGATGTATATATACACATAT GT		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	6/7						chr6	TogoVar
ATG5_chr6_106179476_106330760	106208224	C C	CTGTGTAA others(23): Show CTGTGTAAACACATATGTGTATATATACATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG00673.hp1 others(16): Show HG00621.hp2 HG00639.hp1 HG00673.hp1 HG01123.hp1 HG01496.hp2 HG01943.hp2 HG02129.hp2 HG02135.hp2 HG03490.hp2 HG03491.hp1 HG03942.hp2 NA18942.hp1 NA18959.hp2 NA18971.hp2 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(16): Show a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0331 a0001c0001t0009g0330	19	358	0.0531	30	c.574 others(47): Show c.574-6136_574-6135insTATGTATATATACACATATGTGTTTACA CA		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	6/7						chr6	TogoVar
ATG5_chr6_106179476_106330760	106208254	C C	CTGTGTAA others(23): Show CTGTGTAAACACATATGTGTATATATACATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18977.hp1 NA18981.hp2 HG02698.hp1 NA18977.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0267	3	358	0.0084	30	c.574 others(47): Show c.574-6166_574-6165insTATGTATATATACACATATGTGTTTACA CA		ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	6/7						chr6	TogoVar
ATG7_chr3_11267397_11562665	11378685	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0270 a0005c0008t0004g0270	1	292	0.0034	30	c.187 others(49): Show c.1876-1263_1876-1262insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	236	0.0042	30	c.364 others(49): Show c.364-10405_364-10404insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02280.hp1 HG01069.hp2 HG01071.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0059 a0001c0001t0004g0058 a0001c0001t0004g0077 a0001c0001t0002g0059 a0001c0001t0004g0058 a0001c0001t0004g0077	3	236	0.0127	30	c.363 others(47): Show c.363+5752_363+5781dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12						chr2	TogoVar
ATL3_chr11_63619087_63676376	63657208	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0032 a0001c0001t0007g0032	1	242	0.0041	30	c.405 others(47): Show c.405+1552_405+1553insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding	3/12						chr11	TogoVar
ATN1_chr12_6922959_6947321	6936728	A A	ACAGCAGC others(23): Show ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18965.hp2 NA18965.hp2	a0029 a0029	a0029c0032 a0029c0032	a0029c0032t0001 a0029c0032t0001	a0029c0032t0001g0002 a0029c0032t0001g0002	1	414	0.0024	30	c.147 others(39): Show c.1479_1508dupGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	p.Gln others(13): Show p.Gln493_Gln502dup	ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	5/10	2097/4702	1509/3573	503/1190		INFO_REALIGN_3_PRIME	chr12	TogoVar