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
ZNF516_chr18_76352682_76500242	76394182	GGGCAGGG others(44): Show GGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAG CC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0081 a0009c0029t0081	a0009c0029t0081g0225 a0009c0029t0081g0225	1	343	0.0029	-51	c.181 others(72): Show c.1811-13930_1811-13880delGGCTTCCCACCTGACTACCTGCCC TCCCCCCACCTGACCACCCGCCCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394191	GGGTGGTC others(44): Show GGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGG CA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18941.hp1 NA19011.hp1 others(1): Show HG03239.hp2 NA18941.hp1 NA19011.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0004 a0001c0001t0020 a0001c0002t0003 others(1): Show a0001c0001t0004 a0001c0001t0020 a0001c0002t0003 a0003c0007t0005	a0001c0001t0004g0298 a0001c0001t0020g0153 a0001c0002t0003g0155 others(1): Show a0001c0001t0004g0298 a0001c0001t0020g0153 a0001c0002t0003g0155 a0003c0007t0005g0188	4	321	0.0125	-51	c.181 others(72): Show c.1811-13939_1811-13889delTGCCTTCCCGGCTTCCCACCTGAC TACCTGCCCTCCCCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394210	GGGCAGGT others(44): Show GGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGG AA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02809.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG02809.hp1 HG04204.hp2	a0002 a0003 a0014 a0002 a0003 a0014	a0002c0009 a0003c0007 a0014c0056 a0002c0009 a0003c0007 a0014c0056	a0002c0009t0023 a0003c0007t0024 a0014c0056t0105 a0002c0009t0023 a0003c0007t0024 a0014c0056t0105	a0002c0009t0023g0016 a0003c0007t0024g0338 a0003c0007t0024g0339 others(1): Show a0002c0009t0023g0016 a0003c0007t0024g0338 a0003c0007t0024g0339 a0014c0056t0105g0071	4	326	0.0123	-51	c.181 others(72): Show c.1811-13958_1811-13908delTTCCCCCCACCTGACCACCTGCCT TCCCGGCTTCCCACCTGACTACCTGCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394417	GGGGAAGG others(44): Show GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAG CC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG03471.hp1 others(1): Show HG02257.hp2 HG02451.hp1 HG03471.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0052 others(1): Show a0001c0001 a0001c0006 a0001c0052 a0002c0055	a0001c0001t0009 a0001c0006t0028 a0001c0052t0156 others(1): Show a0001c0001t0009 a0001c0006t0028 a0001c0052t0156 a0002c0055t0017	a0001c0001t0009g0020 a0001c0006t0028g0280 a0001c0052t0156g0123 others(1): Show a0001c0001t0009g0020 a0001c0006t0028g0280 a0001c0052t0156g0123 a0002c0055t0017g0163	4	340	0.0118	-51	c.181 others(72): Show c.1811-14165_1811-14115delGGCTTCCCACCTGACCACCTGCCT TCCCCCCACCTGACCACCTGCCTTCCC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394443	GAAGGCAG others(44): Show GAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGG GC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA19079.hp2 HG01517.hp1 NA19079.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0029 a0001c0001 a0009c0029	a0001c0001t0001 a0009c0029t0081 a0001c0001t0001 a0009c0029t0081	a0001c0001t0001g0196 a0009c0029t0081g0225 a0001c0001t0001g0196 a0009c0029t0081g0225	2	337	0.0059	-51	c.181 others(72): Show c.1811-14191_1811-14141delGCCCCCACCTGACCACCTGCCTTC CCGGCTTCCCACCTGACCACCTGCCTT	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76394449	AGGTGGTC others(44): Show AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CG	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02486.hp1 NA19030.hp1 HG01358.hp2 HG02486.hp1 NA19030.hp1	a0001 a0012 a0001 a0012	a0001c0004 a0001c0005 a0012c0047 a0001c0004 a0001c0005 a0012c0047	a0001c0004t0063 a0001c0005t0085 a0012c0047t0026 a0001c0004t0063 a0001c0005t0085 a0012c0047t0026	a0001c0004t0063g0128 a0001c0005t0085g0198 a0012c0047t0026g0346 a0001c0004t0063g0128 a0001c0005t0085g0198 a0012c0047t0026g0346	3	334	0.0090	-51	c.181 others(72): Show c.1811-14197_1811-14147delCGCCCTGCCCCCACCTGACCACCT GCCTTCCCGGCTTCCCACCTGACCACC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF525_chr19_53360705_53391590	53368384	TGACTCTG others(44): Show TGACTCTGTAAAAGCTTTTCCTTAGTGAGCAACACAGTATCTCCTGATAA TA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	440	0.0023	-51	c.-68 others(68): Show c.-68+2628_-68+2678delCTCTGTAAAAGCTTTTCCTTAGTGAGCA ACACAGTATCTCCTGATAATAGA	ZNF525	ENSG00000203326.12	transcript	ENST00000474037.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF565_chr19_36177276_36219665	36218876	TTGGCTCA others(44): Show TTGGCTCACTGCAAGCTTCACCTCCCAGGTTCACGCCATTCTCCAGCCTT AG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	384	0.0026	-51	c.-43 others(62): Show c.-4371_-4321delCTAAGGCTGGAGAATGGCGTGAACCTGGGAGGTG AAGCTTGCAGTGAGCCA	ZNF565	ENSG00000196357.12	transcript	ENST00000304116.10	protein_coding		4212		chr19	TogoVar
ZNF566_chr19_36440119_36494561	36491485	TGCCCGGC others(44): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCC CC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	300	0.0033	-51	c.-21 others(62): Show c.-2110_-2060delGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGC	ZNF566	ENSG00000186017.16	transcript	ENST00000452939.7	protein_coding		1925		chr19	TogoVar
ZNF592_chr15_84743592_84811445	84786062	TGCTTCAG others(44): Show TGCTTCAGTTCAGCCAGGGTTCTGTGCATGTGTTGGTAGCTGTTGAGCTT TG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	368	0.0027	-51	c.222 others(70): Show c.2220+1168_2220+1218delGCTTCAGTTCAGCCAGGGTTCTGTGC ATGTGTTGGTAGCTGTTGAGCTTTG	ZNF592	ENSG00000166716.10	transcript	ENST00000560079.7	protein_coding	4/10			chr15	TogoVar
ZNF696_chr8_143286417_143304952	143303074	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03139.hp2 HG01884.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0018 a0001c0002t0020g0018	2	432	0.0046	-51	c.62 others(62): Show c.6275_*6325delTATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTT	ZNF696	ENSG00000185730.8	transcript	ENST00000330143.8	protein_coding		3123		chr8	TogoVar
ZNF713_chr7_55882456_55947225	55887717	GGAGGCGG others(44): Show GGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGG GC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp1 NA18969.hp1 others(5): Show HG01106.hp2 HG01192.hp1 NA18969.hp1 NA18980.hp1 NA18999.hp2 NA19012.hp1 NA19077.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0003 a0001c0001t0015 a0001c0001t0016	a0001c0001t0003g0130 a0001c0001t0003g0142 a0001c0001t0003g0143 others(5): Show a0001c0001t0003g0130 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0015g0125 a0001c0001t0015g0139 a0001c0001t0016g0129	8	388	0.0206	-51	c.-58 others(66): Show c.-583+39_-583+89delAGGCGGGGGGCGGAGGCGGGGGGCGGAGGC GGGGGGCGGAGGCGGGGGGCG	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF713_chr7_55882456_55947225	55887730	GGAGGCGG others(44): Show GGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGG GC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19063.hp1 NA20129.hp1 NA19056.hp1 NA19063.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0023 a0001c0002t0001g0029 a0001c0002t0001g0032	3	405	0.0074	-51	c.-58 others(67): Show c.-583+52_-583+102delAGGCGGGGGGCGGAGGCGGGGGGCGGAGG CGGGGGGCGGAGGCGGGGGGCG	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF773_chr19_57494938_57513229	57499426	CATCTCCA others(44): Show CATCTCCATCATCTCCATCTCCATCATCATCTCTATCTCCATCATCATCT CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	-51	c.-65 others(60): Show c.-654_-604delATCTCCATCATCTCCATCTCCATCATCATCTCTATC TCCATCATCATCTCT	ZNF773	ENSG00000152439.13	transcript	ENST00000282292.9	protein_coding		511		chr19	TogoVar
ZNF814_chr19_57864381_57894037	57892329	CCCAGATA others(44): Show CCCAGATAAAGAATGAGATTGGTTTACAGGCCCAACTTGGTGGAGTTAGA GT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	432	0.0023	-51	c.-35 others(62): Show c.-3578_-3528delACTCTAACTCCACCAAGTTGGGCCTGTAAACCAA TCTCATTCTTTATCTGG	ZNF814	ENSG00000204514.11	transcript	ENST00000435989.7	protein_coding		3293		chr19	TogoVar
ZNF92_chr7_65368855_65406136	65388301	TTTTTCAT others(44): Show TTTTTCATTTAGTAGTACTGGGCAGTATTAAATAAAATTAAAGATCTACA AA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00597.hp1 others(64): Show HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG02056.hp2 HG02080.hp2 HG02257.hp1 HG02293.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp1 HG03654.hp1 HG03688.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp1 NA18941.hp2 NA18944.hp2 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18981.hp2 NA18983.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19091.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0006c0006t0002	a0001c0001t0003g0001 a0001c0001t0003g0029 a0001c0001t0003g0068 others(11): Show a0001c0001t0003g0001 a0001c0001t0003g0029 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0132 a0001c0001t0009g0070 a0001c0001t0013g0001 a0006c0006t0002g0076	67	408	0.1642	-51	c.130 others(66): Show c.130+275_130+325delTTTCATTTAGTAGTACTGGGCAGTATTAAA TAAAATTAAAGATCTACAAAT	ZNF92	ENSG00000146757.14	transcript	ENST00000328747.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZP4_chr1_237877404_237895922	237883633	AGGGGGAG others(44): Show AGGGGGAGGGCGGGGGAGGGCGGGGGAGGGCCGGGGGAGGGCGGGGGAGG GC	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp2 HG02273.hp2 others(2): Show HG01928.hp2 HG01952.hp2 HG02273.hp2 HG02886.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0131 a0001c0001t0001g0135 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0210	5	353	0.0142	-51	c.139 others(68): Show c.1391-838_1391-788delGCCCTCCCCCGCCCTCCCCCGGCCCTCC CCCGCCCTCCCCCGCCCTCCCCC	ZP4	ENSG00000116996.10	transcript	ENST00000366570.5	protein_coding	10/11			chr1	TogoVar
AAK1_chr2_69452997_69648739	69591552	GCTCTGTC others(43): Show GCTCTGTCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAA C	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02809.hp2 others(6): Show HG01243.hp2 HG02280.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG04115.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0021 a0001c0001t0135 a0001c0007t0014 others(4): Show a0001c0001t0021 a0001c0001t0135 a0001c0007t0014 a0001c0007t0021 a0001c0007t0143 a0001c0009t0014 a0001c0009t0120	a0001c0001t0021g0278 a0001c0001t0135g0269 a0001c0007t0014g0270 others(6): Show a0001c0001t0021g0278 a0001c0001t0135g0269 a0001c0007t0014g0270 a0001c0007t0014g0271 a0001c0007t0021g0276 a0001c0007t0021g0279 a0001c0007t0143g0277 a0001c0009t0014g0190 a0001c0009t0120g0179	9	296	0.0304	-50	c.164 others(69): Show c.164-34624_164-34575delGTTGCAGTGAGCCGAGATCACGCCAC TGCACTCCAGCCTGGGAGACAGAG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
AAK1_chr2_69452997_69648739	69591558	TCTCCCAG others(43): Show TCTCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTG C	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03195.hp1 HG03471.hp2 HG01167.hp1 HG03195.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0012 a0001c0001 a0001c0003 a0004c0012	a0001c0001t0074 a0001c0003t0076 a0004c0012t0032 a0001c0001t0074 a0001c0003t0076 a0004c0012t0032	a0001c0001t0074g0053 a0001c0003t0076g0074 a0004c0012t0032g0283 a0001c0001t0074g0053 a0001c0003t0076g0074 a0004c0012t0032g0283	3	296	0.0101	-50	c.164 others(69): Show c.164-34630_164-34581delGCAGAGGTTGCAGTGAGCCGAGATCA CGCCACTGCACTCCAGCCTGGGAG	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
ABCA1_chr9_104776006_104933155	104862656	GGCCGGGC others(43): Show GGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGCCCC C	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0019 a0019	a0019c0100 a0019c0100	a0019c0100t0009 a0019c0100t0009	a0019c0100t0009g0182 a0019c0100t0009g0182	1	291	0.0034	-50	c.422 others(65): Show c.422-906_422-857delGGGGGCCGGCCCGGCCCGGCCCGGCCCGGC CCGGCCCGGCCCGGCCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCC2_chr10_99777640_99857594	99814206	CACACATG others(43): Show CACACATGTGTATATATACACACATGTGTATATATGCACACACGTATGTA T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(43): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01175.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02004.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03579.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp2 NA18954.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19084.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0008 others(4): Show a0001 a0002 a0008 a0010 a0015 a0022 a0028	a0001c0001 a0002c0003 a0002c0021 others(5): Show a0001c0001 a0002c0003 a0002c0021 a0008c0013 a0010c0015 a0015c0019 a0022c0020 a0028c0039	a0001c0001t0001 a0002c0003t0001 a0002c0003t0004 others(7): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 a0002c0021t0003 a0008c0013t0001 a0010c0015t0001 a0015c0019t0001 a0022c0020t0001 a0028c0039t0001	a0001c0001t0001g0144 a0001c0001t0001g0202 a0001c0001t0001g0203 others(42): Show a0001c0001t0001g0144 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0002c0003t0001g0006 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0154 a0002c0003t0001g0209 a0002c0003t0001g0221 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0233 a0002c0003t0001g0237 a0002c0003t0001g0238 a0002c0003t0001g0240 a0002c0003t0001g0243 a0002c0003t0001g0245 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0289 a0002c0003t0001g0310 a0002c0003t0001g0311 a0002c0003t0001g0312 a0002c0003t0001g0313 a0002c0003t0001g0324 a0002c0003t0001g0328 a0002c0003t0004g0234 a0002c0003t0004g0244 a0002c0003t0004g0255 a0002c0003t0009g0242 a0002c0021t0003g0257 a0008c0013t0001g0325 a0008c0013t0001g0326 a0010c0015t0001g0016 a0010c0015t0001g0017 a0015c0019t0001g0228 a0022c0020t0001g0309 a0028c0039t0001g0327	46	261	0.1762	-50	c.209 others(69): Show c.2094+1068_2094+1117delTGTGTATATATACACACATGTGTATA TATGCACACACGTATGTATACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99839409	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC G	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0221 a0002c0003t0001g0221	1	332	0.0030	-50	c.361 others(69): Show c.3615-2541_3615-2492delCACCTCCCTCCCGGACGGGGTGGCTG GCCGGGCGGGGGGGCTGACCCCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABI2_chr2_203323394_203437169	203338920	GTGTGTGT others(43): Show GTGTGTGTGTATATGTATATATATATATATATATATATATATAAATATAT A	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	296	0.0034	-50	c.117 others(69): Show c.117+10291_117+10340delGTGTGTGTATATGTATATATATATAT ATATATATATATATAAATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338926	GTGTATAT others(43): Show GTGTATATGTATATATATATATATATATATATATATAAATATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	201	0.0050	-50	c.117 others(69): Show c.117+10297_117+10346delGTATATGTATATATATATATATATAT ATATATATAAATATATATATATAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203338934	GTATATAT others(43): Show GTATATATATATATATATATATATATATAAATATATATATATATATATAA A	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	313	0.0032	-50	c.117 others(69): Show c.117+10328_117+10377delTATAAATATATATATATATATATAAA TATATATATATATATATATATATA	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABLIM1_chr10_114426112_114663275	114583450	CACACACA others(43): Show CACACACACACACACACACATATATATATATATATATATATATATATATA T	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0019 a0001c0007t0019	a0001c0007t0019g0058 a0001c0007t0019g0058	1	226	0.0044	-50	c.380 others(67): Show c.380-7901_380-7852delATATATATATATATATATATATATATAT ATATGTGTGTGTGTGTGTGTGT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	2/22			chr10	TogoVar
ABR_chr17_998519_1184981	1048622	GCGCCTGG others(43): Show GCGCCTGGATCACGTCCGGGGCCACGGTCAAGAAGCTCGGCGCCCAGCTG C	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp2 HG01109.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0038 a0001c0003t0082 a0001c0002t0038 a0001c0003t0082	a0001c0002t0038g0012 a0001c0003t0082g0286 a0001c0002t0038g0012 a0001c0003t0082g0286	2	336	0.0060	-50	c.179 others(69): Show c.1791+1378_1791+1427delGCAGCTGGGCGCCGAGCTTCTTGACC GTGGCCCCGGACGTGATCCAGGCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1048635	GTCCGGGG others(43): Show GTCCGGGGCCACGGTCAAGAAGCTCGGCGCCCAGCTGCCGCCTGGATCAC C	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG06807.hp1 others(1): Show HG03209.hp1 HG03516.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0053 a0001c0002t0091 a0001c0003t0012 others(1): Show a0001c0002t0053 a0001c0002t0091 a0001c0003t0012 a0001c0004t0037	a0001c0002t0053g0069 a0001c0002t0091g0337 a0001c0003t0012g0118 others(1): Show a0001c0002t0053g0069 a0001c0002t0091g0337 a0001c0003t0012g0118 a0001c0004t0037g0016	4	334	0.0120	-50	c.179 others(69): Show c.1791+1365_1791+1414delGGTGATCCAGGCGGCAGCTGGGCGCC GAGCTTCTTGACCGTGGCCCCGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABTB3_chr12_107313434_107664642	107469892	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTTTCTTT C	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG03471.hp2 others(2): Show HG02486.hp1 HG02622.hp2 HG03471.hp2 NA18999.hp2 NA19086.hp1	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0003 a0006c0010 others(1): Show a0001c0001 a0001c0003 a0006c0010 a0007c0014	a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0006c0010t0003 a0007c0014t0037	a0001c0001t0002g0093 a0001c0001t0003g0027 a0001c0003t0002g0159 others(2): Show a0001c0001t0002g0093 a0001c0001t0003g0027 a0001c0003t0002g0159 a0006c0010t0003g0162 a0007c0014t0037g0171	5	186	0.0269	-50	c.113 others(71): Show c.1136-50563_1136-50514delCTCTCTCTCTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469944	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01943.hp2 HG00621.hp2 HG01943.hp2	a0002 a0002	a0002c0002 a0002c0031 a0002c0002 a0002c0031	a0002c0002t0012 a0002c0031t0003 a0002c0002t0012 a0002c0031t0003	a0002c0002t0012g0180 a0002c0031t0003g0051 a0002c0002t0012g0180 a0002c0031t0003g0051	2	158	0.0127	-50	c.113 others(71): Show c.1136-50541_1136-50492delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107469966	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT C	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA19087.hp1 NA18747.hp2 NA19087.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0004 a0003c0006t0005 a0003c0004t0004 a0003c0006t0005	a0003c0004t0004g0003 a0003c0006t0005g0149 a0003c0004t0004g0003 a0003c0006t0005g0149	2	177	0.0113	-50	c.113 others(71): Show c.1136-50517_1136-50468delTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTCTCTCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD10_chr12_111681053_111762099	111724796	GGGGAGAC others(43): Show GGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGAAAGAGAGGGAG A	G G	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	327	0.0031	-50	c.106 others(69): Show c.1062-3103_1062-3054delAAAGAGAGGGAGAGGGAGACCGTGGA AAGAGAGGGAGAGGGAGACCGTGG	ACAD10	ENSG00000111271.15	transcript	ENST00000313698.9	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAT2_chr6_159757045_159784112	159769149	GCAGCAAT others(43): Show GCAGCAATGGCTCTGGTTTTATGTAACACATAAATATGTGAAAAAGGTAA T	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	402	0.0025	-50	c.490 others(65): Show c.490+522_490+571delCAGCAATGGCTCTGGTTTTATGTAACACAT AAATATGTGAAAAAGGTAAT	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	4/8			chr6	TogoVar
ACBD5_chr10_27190214_27245797	27203326	GCCTCAGG others(43): Show GCCTCAGGTTATTCCTAACATGGACAGACTCAGAATTACTTTCAGGGATT C	G G	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0291 a0007c0011t0001g0291	1	382	0.0026	-50	c.156 others(69): Show c.1565+1064_1565+1113delGAATCCCTGAAAGTAATTCTGAGTCT GTCCATGTTAGGAATAACCTGAGG	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	12/12			chr10	TogoVar
ACOT11_chr1_54543228_54615329	54562297	CGGCTGGC others(43): Show CGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG T	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02132.hp2 NA18955.hp1 others(4): Show HG00558.hp1 HG02132.hp2 NA18955.hp1 NA18971.hp2 NA19002.hp1 NA19007.hp1 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0005 a0001c0001t0002 a0003c0003t0005	a0001c0001t0002g0137 a0003c0003t0005g0135 a0003c0003t0005g0136 others(4): Show a0001c0001t0002g0137 a0003c0003t0005g0135 a0003c0003t0005g0136 a0003c0003t0005g0138 a0003c0003t0005g0142 a0003c0003t0005g0251 a0003c0003t0005g0258	7	386	0.0181	-50	c.33+ others(67): Show c.33+13967_33+14016delTGGGGGGGCTGACCCCCCCATCTCCCTC CCGGACGGGGTGGCTGGCCGGG	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT11_chr1_54543228_54615329	54562447	ATCCCCCC others(43): Show ATCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGA C	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02155.hp1 HG02083.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0150 a0001c0001t0001g0093 a0001c0001t0001g0150	2	384	0.0052	-50	c.33+ others(67): Show c.33+14106_33+14155delTCCCCCCACCTCCCTCCCGGACGGCACG GCTGGCCAGGCGGGGGGCTGAC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15			chr1	TogoVar
ACOX1_chr17_75936507_75984166	75956939	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATAT A	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	340	0.0029	-50	c.538 others(65): Show c.538+470_538+519delTATATATATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956941	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATAT A	C C	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0284 a0002c0002t0001g0284	1	339	0.0029	-50	c.538 others(65): Show c.538+468_538+517delTATATATATATATATATATAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75956943	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATAT A	C C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	340	0.0029	-50	c.538 others(65): Show c.538+466_538+515delTATATATATATATATATATATAGAGAGAGA GAGAGAGAGAGAGAGAGAGA	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	4/13			chr17	TogoVar
ACR_chr22_50733204_50750339	50748310	TGAGGGGT others(43): Show TGAGGGGTGTGCCCACCTGGACAACCGAGGGGTGTGCCCACCTAGACATC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	448	0.0022	-50	c.31 others(61): Show c.3104_*3153delGAGGGGTGTGCCCACCTGGACAACCGAGGGGTGT GCCCACCTAGACATCC	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		2972		chr22	TogoVar
ACR_chr22_50733204_50750339	50748491	GGTGTGCC others(43): Show GGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACATCCGAGG A	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01361.hp1 HG01884.hp2 others(11): Show HG01255.hp1 HG01361.hp1 HG01884.hp2 HG02109.hp1 HG02257.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03098.hp2 HG03209.hp1 HG03516.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0028 a0003c0003t0001g0010 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0028 a0003c0003t0001g0010 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0083	14	462	0.0303	-50	c.32 others(61): Show c.3285_*3334delGTGTGCCCACCTAGACATCCGAGGGGTGTGCCCA CCTAGACATCCGAGGA	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3153		chr22	TogoVar
ACR_chr22_50733204_50750339	50748599	TCACCTAG others(43): Show TCACCTAGACATCCGAGGGGTGTGCCCACCTAGACAACCGAGGAGTGTGC C	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02809.hp1 others(4): Show HG01891.hp2 HG02451.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG03209.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0141	7	252	0.0278	-50	c.33 others(61): Show c.3392_*3441delTCACCTAGACATCCGAGGGGTGTGCCCACCTAGA CAACCGAGGAGTGTGC	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3260		chr22	TogoVar
ACTG2_chr2_73888008_73924865	73901537	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTG C	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA20300.hp1 NA18960.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0259 a0001c0002t0002g0132 a0001c0001t0003g0259 a0001c0002t0002g0132	2	414	0.0048	-50	c.126 others(65): Show c.126+119_126+168delGTGTGTGTGTGTGTGTGTGTGTGTGTCTGT GCGTGTGTGTGTGTGTGTGT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACTN4_chr19_38642649_38736589	38673508	AATATATA others(43): Show AATATATATTTATATATATTCATATATACTTATATATATTTATATATACT T	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0005 a0001c0004t0001 a0001c0004t0005	a0001c0004t0001g0229 a0001c0004t0005g0228 a0001c0004t0001g0229 a0001c0004t0005g0228	2	303	0.0066	-50	c.162 others(69): Show c.162+25629_162+25678delCTTATATATATTTATATATACTTATA TATATTTATATATATTCATATATA	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770632	ATATAAAA others(43): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAGATA T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG01891.hp2 others(10): Show HG01433.hp1 HG01884.hp2 HG01891.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02809.hp2 HG02886.hp2 HG03195.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0030 a0001c0001t0002g0006 a0001c0001t0002g0030	13	416	0.0313	-50	c.-11 others(61): Show c.-1162_-1113delATATCTAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1072		chr3	TogoVar
ACVR1_chr2_157731446_157881330	157777867	TTTACCCC others(43): Show TTTACCCCTCAGAGAAAAGTAACTAACTACCAACACTACTAAAATAAATC C	T T	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	172	0.0058	-50	c.543 others(65): Show c.543+214_543+263delGGATTTATTTTAGTAGTGTTGGTAGTTAGT TACTTTTCTCTGAGGGGTAA	ACVR1	ENSG00000115170.16	transcript	ENST00000434821.7	protein_coding	5/10			chr2	TogoVar
ADAMTS12_chr5_33518535_33896990	33849174	AATATATA others(43): Show AATATATATATGTATTGCATAGCAATATATATATATGTATTGCATAGCAA T	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	177	0.0056	-50	c.489 others(69): Show c.489+31895_489+31944delATTGCTATGCAATACATATATATATA TTGCTATGCAATACATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS15_chr11_130443645_130481645	130470136	ATATATAT others(43): Show ATATATATATATATATGTGTATATATATATATATATATATATATATGTGT G	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18939.hp2 HG01978.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0271 a0001c0001t0004g0066 a0001c0001t0001g0271 a0001c0001t0004g0066	2	357	0.0056	-50	c.172 others(67): Show c.1720+713_1721-719delGTGTATATATATATATATATATATATAT ATGTGTGTATATATATATATAT	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100208110	AAGCCTCA others(43): Show AAGCCTCACCTGGTACACAGTAGGCTCTTCCAGGTCTGTCAGGAACCCAG G	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp1 HG02698.hp1 HG03017.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0016 a0002c0001 a0006c0016	a0002c0001t0002 a0006c0016t0058 a0002c0001t0002 a0006c0016t0058	a0002c0001t0002g0174 a0006c0016t0058g0096 a0002c0001t0002g0174 a0006c0016t0058g0096	2	226	0.0088	-50	c.107 others(69): Show c.1076-8737_1076-8688delCCTGGGTTCCTGACAGACCTGGAAGA GCCTACTGTGTACCAGGTGAGGCT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179214068	AAACTCAA others(43): Show AAACTCAAAAGCCGTGCCCACAGTCACCATTACTGAGACACATTAGGACA C	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0007 a0002c0039t0007	a0002c0039t0007g0210 a0002c0039t0007g0210	1	274	0.0036	-50	c.689 others(67): Show c.689-6403_689-6354delGTGTCCTAATGTGTCTCAGTAATGGTGA CTGTGGGCACGGCTTTTGAGTT	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar

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