Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
AGR3_chr7_16854412_16886983	16874909	GAGTTCAA others(37): Show GAGTTCAAGACTAGCCTGGTCAATACAGTGTAATCTGTCTCTACT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	458	0.0022	-44	c.110 others(61): Show c.110-1110_110-1067delAGTAGAGACAGATTACACTGTATTGACC AGGCTAGTCTTGAACT		AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	2/7					chr7	TogoVar
AGTPBP1_chr9_85541539_85746954	85541894	CTAAATAA others(37): Show CTAAATAATCAGAGCAAAATCTCTTTAGCCCTTTAAGGTTATCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	302	0.0033	-44	c.51 others(55): Show c.5171_*5214delCAGATAACCTTAAAGGGCTAAAGAGATTTTGCTC TGATTATTTA		AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding				4644		chr9	TogoVar
AHCTF1_chr1_246834098_246936948	246899826	TAAGTCAT others(37): Show TAAGTCATAATTCCTTTATAAAACATATAAATACTAAATATCTCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp1 HG02486.hp1 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0019 a0003c0020 a0001c0019 a0003c0020	a0001c0019t0001 a0003c0020t0022 a0001c0019t0001 a0003c0020t0022	a0001c0019t0001g0171 a0003c0020t0022g0373 a0001c0019t0001g0171 a0003c0020t0022g0373	2	376	0.0053	-44	c.143 others(61): Show c.1432+195_1432+238delGGAGATATTTAGTATTTATATGTTTTAT AAAGGAATTATGACTT		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	10/35					chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246899863	ATATCTCC others(37): Show ATATCTCCAAGTCATAATTCCTTTATAAAACATATAAATACTAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03098.hp1 HG02717.hp1 HG03098.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0274 a0011c0016t0001g0275 a0011c0016t0001g0274 a0011c0016t0001g0275	2	376	0.0053	-44	c.143 others(61): Show c.1432+158_1432+201delCTTAGTATTTATATGTTTTATAAAGGAA TTATGACTTGGAGATA		AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	10/35					chr1	TogoVar
AHRR_chr5_316714_443285	345082	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTCAGATGATGTCCCTGGCTGTGTGTGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	268	0.0037	-44	c.62+ others(59): Show c.62+1134_62+1177delCAGATGATGTCCCTGGCTGTGTGTGGGGAT GTGTGTGTGTGTGT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10				INFO_REALIGN_3_PRIME	chr5	TogoVar
AIMP1_chr4_106311550_106354456	106321967	TGTGCTGT others(37): Show TGTGCTGTGTCCGCTAAGGGTTAAATGGCCCGTGCTCTCTGAAAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	2	384	0.0052	-44	c.-25 others(61): Show c.-25-3006_-25-2963delGCTAAGGGTTAAATGGCCCGTGCTCTCT GAAACGTGCTGTGTCC		AIMP1	ENSG00000164022.18	transcript	ENST00000672341.1	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr4	TogoVar
AK5_chr1_77277019_77564966	77475392	ATATATAA others(37): Show ATATATAATATATATGTATATATATACTATATATTATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02451.hp1 HG02922.hp2 others(5): Show HG01261.hp2 HG02451.hp1 HG02922.hp2 HG03041.hp1 HG03209.hp1 HG03490.hp1 HG03516.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0003c0005	a0001c0001t0001 a0001c0003t0004 a0001c0009t0004 others(3): Show a0001c0001t0001 a0001c0003t0004 a0001c0009t0004 a0002c0002t0002 a0003c0005t0008 a0003c0005t0009	a0001c0001t0001g0049 a0001c0003t0004g0236 a0001c0009t0004g0091 others(5): Show a0001c0001t0001g0049 a0001c0003t0004g0236 a0001c0009t0004g0091 a0002c0002t0002g0135 a0003c0005t0008g0130 a0003c0005t0009g0005 a0003c0005t0009g0133 a0003c0005t0009g0138	8	284	0.0282	-44	c.106 others(63): Show c.1060-7924_1060-7881delTATATAATATATATGTATATATATAC TATATATTATATATATGT		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13					chr1	TogoVar
AKAP17A_chrX_1586604_1607520	1587645	CCCCTCCC others(37): Show CCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCCTCTCCCTTCCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0039 a0001c0005t0001g0039	1	151	0.0066	-44	c.-41 others(55): Show c.-4143_-4100delCCCTCCCCTCCCCTCCCCTCCCTTCCCCTCCTCT CCCTTCCCTT		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding				3958		chrX	TogoVar
ALAD_chr9_113381312_113406284	113404313	CTGCAGTA others(37): Show CTGCAGTAATGATAGAAGTGTGGTGGGGGGAATACTGGTGGATGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	446	0.0022	-44	c.-32 others(55): Show c.-3221_-3178delTCATCCACCAGTATTCCCCCCACCACACTTCTAT CATTACTGCA		ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding				3030		chr9	TogoVar
ALG6_chr1_63362627_63443553	63400239	ATATACGT others(37): Show ATATACGTATATATATGTATATATATATACGTATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp1 others(24): Show HG00140.hp1 HG00438.hp2 HG00558.hp1 HG01069.hp2 HG01496.hp1 HG02083.hp1 HG02129.hp1 HG02523.hp2 HG03669.hp2 HG03834.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18951.hp1 NA18953.hp1 NA18957.hp2 NA18969.hp1 NA18980.hp1 NA18980.hp2 NA18991.hp1 NA18994.hp2 NA19002.hp1 NA19060.hp1 NA19063.hp1 NA19077.hp2 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0003c0005t0003	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0247 others(24): Show a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0247 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0003g0111 a0001c0001t0003g0124 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0004g0056 a0001c0001t0005g0105 a0001c0001t0005g0107 a0003c0005t0003g0120	27	388	0.0696	-44	c.168 others(61): Show c.168-2010_168-1967delCGTATATATATGTATATATATATACGTA TATATATATACGTATA		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG6_chr1_63362627_63443553	63400296	CGTATATA others(37): Show CGTATATATATGTATATATATATACGTATATATATATATACGTAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02155.hp1 HG02280.hp2 others(3): Show HG00738.hp1 HG02155.hp1 HG02280.hp2 HG02896.hp2 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0004t0006 a0001c0001t0002 a0001c0001t0004 a0001c0004t0006	a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0002g0178 others(3): Show a0001c0001t0002g0027 a0001c0001t0002g0037 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0004g0034 a0001c0004t0006g0325	6	388	0.0155	-44	c.168 others(61): Show c.168-1957_168-1914delGTATATATATGTATATATATATACGTAT ATATATATATACGTAT		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14					chr1	TogoVar
ALG6_chr1_63362627_63443553	63422364	TAAATATA others(37): Show TAAATATATATAAGTATAAATATATATAAATATATATCTATATAA	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19091.hp2 NA18990.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0216 a0001c0001t0003g0217	2	388	0.0052	-44	c.105 others(63): Show c.1058+2926_1058+2969delAATATATATAAGTATAAATATATATA AATATATATCTATATAAA		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG6_chr1_63362627_63443553	63422388	TATAAATA others(37): Show TATAAATATATATCTATATAAATATAAATATATATATAAATATAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG03130.hp2 others(1): Show HG02572.hp2 HG02886.hp2 HG03130.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0234 a0001c0001t0008g0235 a0001c0001t0008g0236 others(1): Show a0001c0001t0008g0234 a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0008g0237	4	388	0.0103	-44	c.105 others(63): Show c.1058+2952_1058+2995delAATATATATCTATATAAATATAAATA TATATATAAATATAAATA		ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14				INFO_REALIGN_3_PRIME	chr1	TogoVar
ALOX12_chr17_6991049_7015754	7004277	AATTAATT others(37): Show AATTAATTTAATATTAAATTAAATTTTAATATTTTTAATTTTAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(300): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0001c0001 a0001c0006 a0001c0007 others(15): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0016 a0001c0021 a0002c0002 a0002c0004 a0002c0013 a0002c0019 a0003c0005 a0003c0008 a0004c0010 a0005c0015 a0006c0014 a0008c0012 a0009c0018	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(17): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0011t0001 a0001c0016t0001 a0001c0021t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0004t0001 a0002c0013t0001 a0002c0019t0001 a0003c0005t0001 a0003c0008t0001 a0004c0010t0001 a0005c0015t0001 a0006c0014t0001 a0008c0012t0001 a0009c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(168): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0006t0001g0133 a0001c0007t0001g0018 a0001c0007t0001g0187 a0001c0009t0001g0007 a0001c0009t0001g0058 a0001c0011t0001g0019 a0001c0016t0001g0191 a0001c0021t0004g0127 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0066 a0002c0002t0005g0006 a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0024 a0002c0004t0001g0025 a0002c0004t0001g0026 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0090 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0108 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0149 a0002c0013t0001g0068 a0002c0019t0001g0102 a0003c0005t0001g0118 a0003c0008t0001g0119 a0003c0008t0001g0120 a0004c0010t0001g0116 a0004c0010t0001g0117 a0005c0015t0001g0183 a0006c0014t0001g0044 a0008c0012t0001g0200 a0009c0018t0001g0077	303	404	0.7500	-44	c.116 others(61): Show c.1162-924_1162-881delATTAAATTAAATTTTAATATTTTTAATT TTAATATTAATTTAAT		ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	8/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107810	CAAGAAAG others(37): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18971.hp1 NA18998.hp1 NA18944.hp2 NA18971.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0085 a0001c0002t0001g0143 a0001c0002t0001g0069 a0001c0002t0001g0085 a0001c0002t0001g0143	3	422	0.0071	-44	c.168 others(61): Show c.1684+614_1684+657delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15					chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107950	AAAGAAAG others(37): Show AAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0415 a0001c0001t0003g0415	1	422	0.0024	-44	c.168 others(61): Show c.1684+474_1684+517delCTTTCTTTCTTTCTCTCTCTCTCTCTCT CCTTCCTTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15					chr17	TogoVar
ALPL_chr1_21504423_21583410	21554788	CCTGTCTG others(37): Show CCTGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18984.hp1 NA19082.hp2 HG00642.hp1 NA18984.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0307 a0001c0001t0003g0311 a0001c0001t0004g0004 a0001c0001t0003g0307 a0001c0001t0003g0311 a0001c0001t0004g0004	3	370	0.0081	-44	c.61+ others(57): Show c.61+649_61+692delGTCTGTCTGTCTGTCTGTCTGTCTGTCTTTCT TTCTTTCTTTCT		ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	2/11				INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56397703	AATCATTT others(37): Show AATCATTTATAATATATAAATGTATCATTTATAATATATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01952.hp1 HG03669.hp2 others(2): Show HG01074.hp1 HG01952.hp1 HG03669.hp2 NA18945.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0018	a0001c0001t0002g0093 a0001c0001t0002g0133 a0001c0001t0007g0127 others(2): Show a0001c0001t0002g0093 a0001c0001t0002g0133 a0001c0001t0007g0127 a0001c0001t0008g0132 a0001c0001t0018g0105	5	356	0.0140	-44	c.108 others(63): Show c.1085+3986_1085+4029delACATTTATATATTATAAATGATACAT TTATATATTATAAATGAT		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13					chr16	TogoVar
ANKDD1A_chr15_64906902_64963691	64954171	TTTTCTTC others(37): Show TTTTCTTCTTCTTCTCCTTCTTTCTTGTTCCTTATTCTTTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	338	0.0030	-44	c.148 others(63): Show c.1484-2929_1484-2886delTCTTCTTCTTCTCCTTCTTTCTTGTT CCTTATTCTTTTCTTCTT		ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14				INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKFN1_chr17_56148475_56522016	56467775	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0020 a0003c0020t0020	a0003c0020t0020g0068 a0003c0020t0020g0068	1	112	0.0089	-44	c.177 others(63): Show c.1773+1207_1773+1250delAGAAAGAAAGAAAGAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA		ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	15/20				INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56467779	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0023 a0001c0023t0023	a0001c0023t0023g0085 a0001c0023t0023g0085	1	112	0.0089	-44	c.177 others(63): Show c.1773+1211_1773+1254delAGAAAGAAAGAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA		ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	15/20				INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFY1_chr17_4158821_4268979	4241807	GGGCCCGG others(37): Show GGGCCCGGCACGGTGGCTCACGCTTGTAATCCCAGCACTCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0237 a0001c0001t0003g0237	1	300	0.0033	-44	c.203 others(59): Show c.203+405_203+448delTCCCAGAGTGCTGGGATTACAAGCGTGAGC CACCGTGCCGGGCC		ANKFY1	ENSG00000185722.18	transcript	ENST00000341657.9	protein_coding	2/24					chr17	TogoVar
ANKHD1_chr5_140396833_140544849	140458953	TATATATA others(37): Show TATATATATATATATATATATATATATGCATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	322	0.0031	-44	c.148 others(61): Show c.1480+118_1481-141delGCATATATATATATATGCATATATATAT ATATATATATATATAT		ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	8/33				INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132759023	TGGATCGC others(37): Show TGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG01361.hp2 others(5): Show HG00140.hp1 HG01109.hp1 HG01361.hp2 HG02615.hp1 HG02717.hp2 HG03453.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0139 others(5): Show a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0324 a0001c0010t0002g0192 a0001c0010t0002g0193 a0001c0010t0002g0275	8	350	0.0229	-44	c.181 others(61): Show c.181+2551_181+2594delTCTCTGCCACGTGGGTGCCCCGGGGTGC CACTCCGCAGCGATCC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12					chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759121	AGAGTGGC others(37): Show AGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	350	0.0029	-44	c.181 others(61): Show c.181+2453_181+2496delCGCAGCGATCCTCTCTGCCACGTGGGTG CCCCGGGGTGCCACTC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12					chr12	TogoVar
ANKMY1_chr2_240474422_240562988	240497085	GATAAGAA others(37): Show GATAAGAATGGAGCCGCCACCTCCTCGCCATCTTGGAAGCTGAGC	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19089.hp1 HG03704.hp1 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0002 a0001c0008 a0002c0002	a0001c0008t0001 a0002c0002t0001 a0001c0008t0001 a0002c0002t0001	a0001c0008t0001g0099 a0002c0002t0001g0171 a0001c0008t0001g0099 a0002c0002t0001g0171	2	320	0.0063	-44	c.280 others(63): Show c.2806+2829_2806+2872delGCTCAGCTTCCAAGATGGCGAGGAGG TGGCGGCTCCATTCTTAT		ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	15/17					chr2	TogoVar
ANKRD30A_chr10_37120598_37237567	37231448	GCAATCTT others(37): Show GCAATCTTCACAGAACTCATGAGAGACAAGCAGTAAGAAACTTCT	G G	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG02280.hp1 HG02280.hp1	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0009 a0014c0030t0009	a0014c0030t0009g0125 a0014c0030t0009g0125	1	286	0.0035	-44	c.418 others(55): Show c.4186-12_*23delCAATCTTCACAGAACTCATGAGAGACAAGCAGTA AGAAACTTCT	p.Asn others(6): Show p.Asn1396fs	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding	35/36	4186/4194	1396/1397			chr10	TogoVar
ANKRD31_chr5_75063297_75241878	75206230	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0162 a0001c0009t0001g0162	1	334	0.0030	-44	c.403 others(59): Show c.403+137_403+180delATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25					chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206232	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0012 a0001c0009t0003g0012	1	334	0.0030	-44	c.403 others(59): Show c.403+135_403+178delATATATATATATATATATATATATATATTT TTTTTTTTTTTTTT		ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25					chr5	TogoVar
ANKRD36C_chr2_95844548_95996824	95963944	AATATATA others(37): Show AATATATATATATAAATATATATATATAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0178 a0002c0006t0001g0178	1	298	0.0034	-44	c.800 others(61): Show c.800-1441_800-1398delATATATATATATATATTTATATATATAT ATTTATATATATATAT		ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	6/87					chr2	TogoVar
ANKRD55_chr5_56094680_56238330	56170277	TATGCTTA others(37): Show TATGCTTAAGAGCTTCACTAGAATATAAGCTCTGTGACATCAGAG	T T	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	308	0.0033	-44	c.422 others(59): Show c.422+373_422+416delCTCTGATGTCACAGAGCTTATATTCTAGTG AAGCTCTTAAGCAT		ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11					chr5	TogoVar
ANKS1B_chr12_98738974_99989936	99169844	GTAGCCTG others(37): Show GTAGCCTGGCTCCAGAGCCTAACTAAGCTTTCAGCCACTACTCTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0022 a0001c0003t0006g0022	1	48	0.0208	-44	c.242 others(65): Show c.2420-15493_2420-15450delTAGAGTAGTGGCTGAAAGCTTAGT TAGGCTCTGGAGCCAGGCTA		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	14/26					chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99385097	TTATGAAC others(37): Show TTATGAACATACGACATCAGCTCTTGCCCAATAATAGACGTTTGG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02895.hp1 HG03139.hp2 HG01109.hp1 HG02895.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0008 a0001c0001 a0001c0004 a0004c0008	a0001c0001t0017 a0001c0004t0012 a0004c0008t0005 a0001c0001t0017 a0001c0004t0012 a0004c0008t0005	a0001c0001t0017g0032 a0001c0004t0012g0003 a0004c0008t0005g0009 a0001c0001t0017g0032 a0001c0004t0012g0003 a0004c0008t0005g0009	3	48	0.0625	-44	c.175 others(65): Show c.1756+14490_1756+14533delCCAAACGTCTATTATTGGGCAAGA GCTGATGTCGTATGTTCATA		ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	12/26					chr12	TogoVar
ANKZF1_chr2_219224806_219241679	219238134	AACCCTCT others(37): Show AACCCTCTGCAAACGTGAACAGGCAGGTGGGAAAGTGTAAATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	376	0.0027	-44	c.16 others(55): Show c.1690_*1733delACCCTCTGCAAACGTGAACAGGCAGGTGGGAAAG TGTAAATATG		ANKZF1	ENSG00000163516.14	transcript	ENST00000323348.10	protein_coding				1456		chr2	TogoVar
ANO9_chr11_412938_447011	436853	GAGTGAGC others(37): Show GAGTGAGCTGGGGGTGAGCAGGGGGTGAGCAGGGGGTAAGCAGGA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	286	0.0035	-44	c.7-2 others(57): Show c.7-2799_7-2756delTCCTGCTTACCCCCTGCTCACCCCCTGCTCAC CCCCAGCTCACT		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	1/22					chr11	TogoVar
ANTXR1_chr2_69008179_69254327	69096286	AAGGGAGG others(37): Show AAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02056.hp2 HG02257.hp2 others(9): Show HG01175.hp2 HG02056.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02735.hp2 HG02895.hp1 HG03130.hp1 HG03540.hp2 NA18988.hp1 NA18988.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0021 a0001c0003t0007 a0001c0005t0002	a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0131 others(9): Show a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0177 a0001c0001t0002g0150 a0001c0001t0004g0092 a0001c0001t0017g0120 a0001c0001t0021g0124 a0001c0003t0007g0015 a0001c0005t0002g0122	12	206	0.0583	-44	c.703 others(61): Show c.703+5371_703+5414delGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAAGGGAGG		ANTXR1	ENSG00000169604.21	transcript	ENST00000303714.9	protein_coding	9/17				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANTXR2_chr4_79896146_80078229	79919863	TTTTATAT others(37): Show TTTTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(126): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp2 HG01099.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp2 NA18977.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005 a0005c0009 a0006c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(47): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0059 a0001c0001t0062 a0001c0001t0064 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0082 a0001c0003t0005 a0002c0002t0005 a0002c0002t0008 a0002c0002t0017 a0002c0002t0020 a0002c0002t0060 a0002c0002t0061 a0002c0002t0080 a0003c0004t0005 a0003c0004t0008 a0003c0004t0041 a0004c0005t0026 a0004c0005t0077 a0005c0009t0049 a0006c0006t0073	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0047 others(124): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0005g0044 a0001c0001t0005g0050 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0131 a0001c0001t0005g0158 a0001c0001t0005g0165 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0188 a0001c0001t0007g0192 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0196 a0001c0001t0007g0198 a0001c0001t0008g0015 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0009g0209 a0001c0001t0009g0226 a0001c0001t0009g0232 a0001c0001t0009g0234 a0001c0001t0009g0249 a0001c0001t0009g0253 a0001c0001t0013g0240 a0001c0001t0013g0242 a0001c0001t0013g0255 a0001c0001t0013g0258 a0001c0001t0013g0259 a0001c0001t0014g0095 a0001c0001t0014g0136 a0001c0001t0014g0139 a0001c0001t0014g0150 a0001c0001t0015g0046 a0001c0001t0015g0055 a0001c0001t0015g0086 a0001c0001t0015g0088 a0001c0001t0016g0115 a0001c0001t0016g0154 a0001c0001t0016g0155 a0001c0001t0016g0156 a0001c0001t0017g0182 a0001c0001t0018g0018 a0001c0001t0018g0029 a0001c0001t0020g0039 a0001c0001t0021g0126 a0001c0001t0021g0127 a0001c0001t0021g0129 a0001c0001t0024g0206 a0001c0001t0024g0227 a0001c0001t0024g0245 a0001c0001t0032g0256 a0001c0001t0032g0257 a0001c0001t0034g0263 a0001c0001t0034g0264 a0001c0001t0035g0004 a0001c0001t0037g0030 a0001c0001t0043g0037 a0001c0001t0044g0036 a0001c0001t0048g0166 a0001c0001t0050g0142 a0001c0001t0051g0098 a0001c0001t0052g0125 a0001c0001t0054g0159 a0001c0001t0059g0064 a0001c0001t0062g0043 a0001c0001t0064g0201 a0001c0001t0069g0204 a0001c0001t0071g0254 a0001c0001t0072g0233 a0001c0001t0074g0228 a0001c0001t0075g0250 a0001c0001t0076g0236 a0001c0001t0082g0262 a0001c0003t0005g0083 a0002c0002t0005g0058 a0002c0002t0005g0097 a0002c0002t0005g0120 a0002c0002t0008g0012 a0002c0002t0008g0023 a0002c0002t0008g0024 a0002c0002t0008g0027 a0002c0002t0017g0167 a0002c0002t0017g0170 a0002c0002t0017g0193 a0002c0002t0020g0033 a0002c0002t0020g0035 a0002c0002t0060g0147 a0002c0002t0061g0153 a0002c0002t0080g0247 a0003c0004t0005g0067 a0003c0004t0005g0100 a0003c0004t0008g0016 a0003c0004t0041g0011 a0004c0005t0026g0010 a0004c0005t0026g0022 a0004c0005t0077g0216 a0005c0009t0049g0081 a0006c0006t0073g0252	129	268	0.4813	-44	c.142 others(65): Show c.1429-12440_1429-12397delTATATATATATATATATATATATA TATATATATATATATATAAA		ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16					chr4	TogoVar
ANXA2_chr15_60342151_60402986	60366773	CCGGCCAG others(37): Show CCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0010 a0001c0001t0001g0030	2	334	0.0060	-44	c.149 others(61): Show c.149-2294_149-2251delACCCCCCCCCCCCCCGCCTCCCTCCCGG ACGGGGCGGCTGGCCG		ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12					chr15	TogoVar
AP2A2_chr11_920870_1017240	974145	AGGTGGCC others(37): Show AGGTGGCCCGTGTTCTGGTGCCTGAGTGGTCCCATGAAGGGAGTG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0135 a0001c0003t0006g0135	1	268	0.0037	-44	c.473 others(61): Show c.473+1970_473+2013delAAGGGAGTGGGTGGCCCGTGTTCTGGTG CCTGAGTGGTCCCATG		AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	4/21				INFO_REALIGN_3_PRIME	chr11	TogoVar
API5_chr11_43306996_43349529	43311278	GTTATATA others(37): Show GTTATATATTATATAATATATAATATTATATATTAATATATAATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG00741.hp1 others(24): Show HG00280.hp1 HG00609.hp1 HG00741.hp1 HG01928.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18970.hp2 NA18974.hp1 NA18984.hp2 NA18985.hp1 NA19005.hp2 NA19011.hp2 NA19059.hp1 NA19062.hp2 NA19063.hp1 NA19072.hp1 NA19076.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(18): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232	27	384	0.0703	-44	c.-84 others(53): Show c.-849_-806delTTATATATTATATAATATATAATATTATATATTAAT ATATAATA		API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding				717		chr11	TogoVar
APOM_chr6_31650894_31663210	31662752	AAAGGGGA others(37): Show AAAGGGGAAGAGTTGAGGCCTCAGAGGGGGCTGGCAGGGTAGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	-44	c.46 others(55): Show c.4664_*4707delAAGGGGAAGAGTTGAGGCCTCAGAGGGGGCTGGC AGGGTAGAAT		APOM	ENSG00000204444.11	transcript	ENST00000375916.4	protein_coding				4543		chr6	TogoVar
ARHGAP32_chr11_128960060_129197325	129193674	AATATATA others(37): Show AATATATAATATATATTATATAATATATAATATATATTATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0263 a0001c0024t0001g0263	1	398	0.0025	-44	c.-15 others(55): Show c.-1520_-1477delAATATATAATATATATTATATATTATATAATATA TATTATATAT		ARHGAP32	ENSG00000134909.19	transcript	ENST00000682385.1	protein_coding				1350		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144600402	GTGTGCAC others(37): Show GTGTGCACTTGTGTACCTGAGTGTGCGTGTTCGTGGAGGCGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03209.hp1 HG02258.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0023 a0001c0001t0018g0022 a0001c0001t0003g0023 a0001c0001t0018g0022	2	246	0.0081	-44	c.80+ others(59): Show c.80+5089_80+5132delTGCACGCCTCCACGAACACGCACACTCAGG TACACAAGTGCACA		ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	2/11					chr8	TogoVar
ARHGAP8_chr22_44747575_44867784	44813714	CACACTTT others(37): Show CACACTTTCATACACTTACACCTACACACACCTACATACACACCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0023 a0023	a0023c0077 a0023c0077	a0023c0077t0006 a0023c0077t0006	a0023c0077t0006g0068 a0023c0077t0006g0068	1	390	0.0026	-44	c.300 others(59): Show c.300-956_300-913delCACTTTCATACACTTACACCTACACACACC TACATACACACCTA		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	4/11				INFO_REALIGN_3_PRIME	chr22	TogoVar
ARHGEF10_chr8_1818926_1963641	1849664	GTGGGGTG others(37): Show GTGGGGTGGCCACGTGGGCATGGATGGCAAATGCTGAGGAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01069.hp1 others(16): Show HG00408.hp1 HG00621.hp2 HG01069.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01952.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp1 NA18954.hp1 NA18960.hp2 NA18964.hp2 NA18980.hp1 NA18990.hp1 NA18990.hp2 NA19010.hp2 NA19057.hp2 NA19060.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0001c0005 others(11): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0012 a0001c0043 a0001c0085 a0001c0132 a0002c0017 a0002c0022 a0002c0082 a0004c0038 a0006c0093	a0001c0001t0002 a0001c0003t0020 a0001c0005t0001 others(14): Show a0001c0001t0002 a0001c0003t0020 a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0010t0008 a0001c0012t0001 a0001c0012t0018 a0001c0043t0002 a0001c0043t0012 a0001c0085t0001 a0001c0132t0020 a0002c0017t0002 a0002c0022t0001 a0002c0082t0001 a0004c0038t0018 a0006c0093t0002	a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0003t0020g0083 others(16): Show a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0003t0020g0083 a0001c0005t0001g0238 a0001c0007t0001g0222 a0001c0007t0001g0323 a0001c0010t0001g0182 a0001c0010t0008g0307 a0001c0012t0001g0236 a0001c0012t0018g0311 a0001c0043t0002g0153 a0001c0043t0012g0279 a0001c0085t0001g0231 a0001c0132t0020g0084 a0002c0017t0002g0237 a0002c0022t0001g0235 a0002c0082t0001g0282 a0004c0038t0018g0085 a0006c0093t0002g0197	19	363	0.0523	-44	c.37+ others(59): Show c.37+6245_37+6288delGCATGGATGGCAAATGCTGAGGAGGGCATG GGGTGGCCACGTGG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1849938	GTGGACAC others(37): Show GTGGACACAGAGGGCAAATGCTGAGGAGGGCGTGGGCCGGCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01515.hp1 HG01517.hp2 others(5): Show HG00438.hp2 HG01515.hp1 HG01517.hp2 HG02015.hp2 NA18747.hp1 NA18961.hp1 NA19007.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0007 others(3): Show a0001c0004 a0001c0006 a0001c0007 a0001c0014 a0001c0026 a0002c0022	a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 others(4): Show a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0014t0002 a0001c0014t0066 a0001c0026t0008 a0002c0022t0001	a0001c0004t0002g0230 a0001c0006t0001g0194 a0001c0007t0001g0218 others(5): Show a0001c0004t0002g0230 a0001c0006t0001g0194 a0001c0007t0001g0218 a0001c0007t0001g0268 a0001c0014t0002g0256 a0001c0014t0066g0119 a0001c0026t0008g0293 a0002c0022t0001g0258	8	363	0.0220	-44	c.37+ others(59): Show c.37+6590_37+6633delATGGACACAGAGGGCAAATGCTGAGGAGGG CGTGGGCCGGCTGC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850114	ATGGACAC others(37): Show ATGGACACAGAGGGCAAATGCTGAGGAGGGTGTGGGGCGGCCACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00642.hp1 others(5): Show HG00408.hp1 HG00621.hp2 HG00642.hp1 HG01255.hp2 HG01346.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0085 a0002c0082 a0004c0038 a0006c0093	a0001c0001t0002 a0001c0001t0019 a0001c0002t0010 others(5): Show a0001c0001t0002 a0001c0001t0019 a0001c0002t0010 a0001c0009t0006 a0001c0085t0001 a0002c0082t0001 a0004c0038t0018 a0006c0093t0002	a0001c0001t0002g0224 a0001c0001t0019g0278 a0001c0002t0010g0212 others(5): Show a0001c0001t0002g0224 a0001c0001t0019g0278 a0001c0002t0010g0212 a0001c0009t0006g0120 a0001c0085t0001g0231 a0002c0082t0001g0282 a0004c0038t0018g0085 a0006c0093t0002g0197	8	363	0.0220	-44	c.37+ others(59): Show c.37+6708_37+6751delTGTGGGGCGGCCACGTGGACACAGAGGGCA AATGCTGAGGAGGG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850198	CCACATGG others(37): Show CCACATGGGCATGGATGGCAAATGCTAAGGAGGGCGTGGGGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG01952.hp1 HG01975.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0024 a0002c0025t0059 a0002c0025t0024 a0002c0025t0059	a0002c0025t0024g0106 a0002c0025t0059g0105 a0002c0025t0024g0106 a0002c0025t0059g0105	2	363	0.0055	-44	c.37+ others(59): Show c.37+6764_37+6807delACATGGGCATGGATGGCAAATGCTAAGGAG GGCGTGGGGCAGTC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850200	ACATGGGC others(37): Show ACATGGGCATGGATGGCAAATGCTAAGGAGGGCGTGGGGCAGTCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00438.hp2 others(7): Show HG00099.hp1 HG00423.hp2 HG00438.hp2 HG01109.hp1 HG02015.hp2 HG03490.hp2 HG04115.hp1 NA18961.hp1 NA19007.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0014 others(2): Show a0001c0004 a0001c0006 a0001c0014 a0001c0068 a0002c0022	a0001c0004t0002 a0001c0004t0005 a0001c0006t0001 others(4): Show a0001c0004t0002 a0001c0004t0005 a0001c0006t0001 a0001c0014t0002 a0001c0014t0066 a0001c0068t0004 a0002c0022t0001	a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0230 others(7): Show a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0230 a0001c0004t0005g0299 a0001c0006t0001g0073 a0001c0006t0001g0194 a0001c0014t0002g0256 a0001c0014t0066g0119 a0001c0068t0004g0167 a0002c0022t0001g0258	10	363	0.0276	-44	c.37+ others(59): Show c.37+6766_37+6809delATGGGCATGGATGGCAAATGCTAAGGAGGG CGTGGGGCAGTCGC		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28				INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1850371	GCCGCGTG others(37): Show GCCGCGTGGGCATGGACGGCAAATGCTGAGGAGGGTGTGGGGCAA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02486.hp1 HG04184.hp1 others(1): Show HG01496.hp1 HG02486.hp1 HG04184.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0068 others(1): Show a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0068 a0001c0002t0001g0341	4	363	0.0110	-44	c.37+ others(59): Show c.37+6944_37+6987delGCATGGACGGCAAATGCTGAGGAGGGTGTG GGGCAACCGCGTGG		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	2/28				INFO_REALIGN_3_PRIME	chr8	TogoVar

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