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
AGGF1_chr5_77025404_77070234	77042602	CTCCCGGA others(42): Show CTCCCGGACGTGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCA	C C	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	436	0.0023	-49	c.870 others(66): Show c.870+2893_870+2941delTGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCATCCCGGACG	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77042816	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGGGGCCGACA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0344 a0001c0001t0001g0344	1	431	0.0023	-49	c.870 others(66): Show c.870+3195_870+3243delACCCCCACCTCCCTCCCGGGCGGGGCGG CTGGCCGGGCGGGGGGCCGAC	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77042933	GCGGGGCG others(42): Show GCGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG00738.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	155	0.0129	-49	c.870 others(66): Show c.870+3282_871-3298delGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGC	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77043482	AGGGCTGA others(42): Show AGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	371	0.0027	-49	c.871 others(66): Show c.871-2833_871-2785delGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGG	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AGR2_chr7_16786811_16809999	16789976	AGGACGGG others(42): Show AGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0188 a0001c0001t0007g0188	1	81	0.0123	-49	c.28 others(60): Show c.2883_*2931delGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCC	AGR2	ENSG00000106541.12	transcript	ENST00000419304.7	protein_coding		1834		chr7	TogoVar
AGTPBP1_chr9_85541539_85746954	85630413	TATTGAGA others(42): Show TATTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0006 a0005c0014t0006	a0005c0014t0006g0299 a0005c0014t0006g0299	1	299	0.0033	-49	c.201 others(68): Show c.2015+2200_2015+2248delCGTGCCACTGCACTCCAGCCTGGGTG ACAGAGCAAGACTCTGTCTCAAT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/25			chr9	TogoVar
AGXT2_chr5_34993102_35052949	35009188	GCAACATT others(42): Show GCAACATTCCTCCCTGGTTACTTGGGAGGTTGAAATCCATTCACAAGTAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02280.hp1 HG03453.hp1 others(3): Show HG00673.hp1 HG02280.hp1 HG03453.hp1 HG03486.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0010	a0001c0001 a0002c0002 a0003c0006 others(3): Show a0001c0001 a0002c0002 a0003c0006 a0003c0012 a0007c0009 a0010c0014	a0001c0001t0003 a0002c0002t0001 a0003c0006t0002 others(3): Show a0001c0001t0003 a0002c0002t0001 a0003c0006t0002 a0003c0012t0002 a0007c0009t0002 a0010c0014t0002	a0001c0001t0003g0142 a0002c0002t0001g0041 a0003c0006t0002g0123 others(3): Show a0001c0001t0003g0142 a0002c0002t0001g0041 a0003c0006t0002g0123 a0003c0012t0002g0048 a0007c0009t0002g0175 a0010c0014t0002g0035	6	381	0.0157	-49	c.133 others(66): Show c.1338+763_1338+811delTTACTTGTGAATGGATTTCAACCTCCCA AGTAACCAGGGAGGAATGTTG	AGXT2	ENSG00000113492.14	transcript	ENST00000231420.11	protein_coding	12/13			chr5	TogoVar
AHRR_chr5_316714_443285	345080	GTGTGTGT others(42): Show GTGTGTGTGTGTGTGTGTCAGATGATGTCCCTGGCTGTGTGTGGGGATGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02273.hp1 HG02723.hp2 others(2): Show HG02257.hp2 HG02273.hp1 HG02723.hp2 NA19240.hp2 NA20300.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0013 a0004c0003t0027 others(1): Show a0004c0003t0007 a0004c0003t0013 a0004c0003t0027 a0004c0003t0037	a0004c0003t0007g0234 a0004c0003t0013g0221 a0004c0003t0013g0233 others(2): Show a0004c0003t0007g0234 a0004c0003t0013g0221 a0004c0003t0013g0233 a0004c0003t0027g0099 a0004c0003t0037g0240	5	241	0.0207	-49	c.62+ others(64): Show c.62+1117_62+1165delTGTGTGTGTGTGTGTGTCAGATGATGTCCC TGGCTGTGTGTGGGGATGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10			chr5	TogoVar
AHRR_chr5_316714_443285	391449	CGAGGCAG others(42): Show CGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0068 a0001c0001t0005g0068	1	259	0.0039	-49	c.351 others(68): Show c.351+14755_351+14803delCGGGGGCAGGGCGAGGCGGGCGCAGG GTGAGGCAGGGCCAGAGCGTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391520	TGGGGGCA others(42): Show TGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00639.hp1 others(60): Show HG00280.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01517.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02300.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18970.hp2 NA18974.hp1 NA18982.hp2 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0002c0019 a0003c0004 a0005c0005 a0009c0020 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0029 a0001c0001t0041 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0008t0025 a0002c0002t0001 a0002c0002t0006 a0002c0002t0011 a0002c0002t0042 a0002c0002t0048 a0002c0019t0001 a0003c0004t0004 a0003c0004t0016 a0003c0004t0053 a0005c0005t0008 a0005c0005t0014 a0009c0020t0001 a0011c0013t0001	a0001c0001t0001g0161 a0001c0001t0002g0019 a0001c0001t0002g0027 others(60): Show a0001c0001t0001g0161 a0001c0001t0002g0019 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0114 a0001c0001t0002g0127 a0001c0001t0002g0140 a0001c0001t0002g0183 a0001c0001t0003g0041 a0001c0001t0003g0103 a0001c0001t0003g0129 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0199 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0005g0051 a0001c0001t0005g0087 a0001c0001t0005g0203 a0001c0001t0006g0037 a0001c0001t0029g0013 a0001c0001t0041g0201 a0001c0001t0061g0182 a0001c0001t0062g0038 a0001c0001t0063g0173 a0001c0008t0025g0158 a0001c0008t0025g0159 a0002c0002t0001g0043 a0002c0002t0001g0062 a0002c0002t0001g0121 a0002c0002t0001g0172 a0002c0002t0001g0200 a0002c0002t0006g0020 a0002c0002t0006g0047 a0002c0002t0006g0090 a0002c0002t0006g0120 a0002c0002t0006g0144 a0002c0002t0006g0209 a0002c0002t0011g0022 a0002c0002t0011g0162 a0002c0002t0042g0166 a0002c0002t0048g0160 a0002c0019t0001g0134 a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0176 a0003c0004t0004g0206 a0003c0004t0016g0111 a0003c0004t0016g0195 a0003c0004t0053g0198 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0014g0116 a0005c0005t0014g0180 a0009c0020t0001g0170 a0011c0013t0001g0021	63	153	0.4118	-49	c.351 others(68): Show c.351+14856_351+14904delGGGCAGGGCGAGGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391623	ACAGGGCG others(42): Show ACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0076 a0002c0002t0006g0076	1	153	0.0065	-49	c.351 others(68): Show c.351+14978_351+15026delTGAGGCAGGGCCAGAGCGTGCATGGG GGCAGGGCGAGGAGGGCGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391716	TGGGGGCA others(42): Show TGGGGGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp2 others(48): Show HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp1 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01517.hp2 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02293.hp1 HG02486.hp2 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp1 NA18982.hp2 NA19000.hp2 NA19007.hp1 NA19058.hp1 NA19060.hp2 NA19064.hp2 NA19085.hp1 NA19091.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0009 a0011	a0001c0001 a0001c0008 a0002c0002 others(5): Show a0001c0001 a0001c0008 a0002c0002 a0003c0004 a0005c0005 a0008c0016 a0009c0020 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0029 a0001c0001t0041 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0008t0025 a0002c0002t0001 a0002c0002t0006 a0002c0002t0011 a0002c0002t0042 a0002c0002t0048 a0003c0004t0004 a0003c0004t0016 a0003c0004t0053 a0005c0005t0014 a0008c0016t0014 a0009c0020t0001 a0011c0013t0001	a0001c0001t0001g0018 a0001c0001t0001g0161 a0001c0001t0002g0042 others(48): Show a0001c0001t0001g0018 a0001c0001t0001g0161 a0001c0001t0002g0042 a0001c0001t0002g0183 a0001c0001t0003g0041 a0001c0001t0003g0103 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0199 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0005g0068 a0001c0001t0006g0037 a0001c0001t0029g0013 a0001c0001t0041g0201 a0001c0001t0061g0182 a0001c0001t0062g0038 a0001c0001t0063g0173 a0001c0008t0025g0158 a0001c0008t0025g0159 a0002c0002t0001g0043 a0002c0002t0001g0053 a0002c0002t0001g0062 a0002c0002t0001g0121 a0002c0002t0001g0172 a0002c0002t0001g0200 a0002c0002t0001g0257 a0002c0002t0006g0020 a0002c0002t0006g0047 a0002c0002t0006g0090 a0002c0002t0006g0120 a0002c0002t0006g0144 a0002c0002t0006g0209 a0002c0002t0011g0022 a0002c0002t0011g0162 a0002c0002t0042g0166 a0002c0002t0048g0160 a0003c0004t0004g0079 a0003c0004t0004g0164 a0003c0004t0004g0169 a0003c0004t0004g0176 a0003c0004t0016g0111 a0003c0004t0016g0195 a0003c0004t0053g0198 a0005c0005t0014g0180 a0008c0016t0014g0189 a0009c0020t0001g0170 a0011c0013t0001g0021	51	184	0.2772	-49	c.351 others(68): Show c.351+15052_351+15100delGGGCAGGGCGAGGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	392092	AGGCGCAG others(42): Show AGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0245 a0006c0006t0021g0245	1	215	0.0047	-49	c.351 others(68): Show c.351+15411_351+15459delACGCAGGGCGAGGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKAP8_chr19_15348385_15384787	15363483	GGGGGGGG others(42): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCACCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG01109.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0236 a0001c0001t0005g0080 a0001c0001t0003g0236 a0001c0001t0005g0080	2	284	0.0070	-49	c.116 others(68): Show c.1161-1281_1161-1233delACCTCCCTCCCGGACGGTGCGGCTGG CCGGGCGGGGGGCTGACCCCCCC	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	9/13			chr19	TogoVar
ALDH1A3_chr15_100874831_100921626	100912014	TTCTGTTT others(42): Show TTCTGTTTTCAAATGAAATGGGAGCAAGCTACATTTCGTTATTGAGACTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	412	0.0024	-49	c.146 others(68): Show c.1467-2686_1467-2638delTCTGTTTTCAAATGAAATGGGAGCAA GCTACATTTCGTTATTGAGACTG	ALDH1A3	ENSG00000184254.17	transcript	ENST00000329841.10	protein_coding	12/12			chr15	TogoVar
ALOX12_chr17_6991049_7015754	7004322	ATTAATTT others(42): Show ATTAATTTAATATTAAATTAAATTTTAATATTTTTAATTTTAATATTAAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00673.hp2 others(68): Show HG00544.hp2 HG00558.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02922.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03831.hp2 HG03927.hp1 NA18941.hp1 NA18948.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp1 NA18992.hp1 NA18995.hp2 NA19005.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0002c0017	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0001 a0002c0017t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0111 others(33): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0131 a0001c0001t0001g0157 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0020 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0129 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0162 a0001c0003t0001g0207 a0001c0003t0002g0020 a0001c0003t0002g0161 a0001c0003t0002g0163 a0001c0006t0001g0039 a0001c0006t0001g0110 a0001c0006t0001g0126 a0001c0007t0001g0125 a0002c0017t0001g0061	71	400	0.1775	-49	c.116 others(66): Show c.1162-924_1162-876delATTAAATTAAATTTTAATATTTTTAATT TTAATATTAATTTAATTTAAT	ALOX12	ENSG00000108839.12	transcript	ENST00000251535.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
AMDHD1_chr12_95938331_95973720	95947923	CATCCGGG others(42): Show CATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	402	0.0025	-49	c.137 others(66): Show c.137+4389_137+4437delATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8			chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95947924	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19030.hp2 HG01081.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0080 a0002c0003t0009g0081 a0002c0003t0009g0080 a0002c0003t0009g0081	2	402	0.0050	-49	c.137 others(66): Show c.137+4467_137+4515delCCCGCCCGGCCAGCCGCCCTGTCCGGGA GGGAGGTGGGGGGGTCAGCCC	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMN_chr14_102917663_102935842	102918396	CTCTCCAC others(42): Show CTCTCCACCAGTAATCCCCTAATGACCAATTCACCACCCTCCCAGAAACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	450	0.0022	-49	c.-42 others(60): Show c.-4292_-4244delTCTCCACCAGTAATCCCCTAATGACCAATTCACC ACCCTCCCAGAAACT	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding		4266		chr14	TogoVar
AMOTL1_chr11_94763356_94881748	94878850	TTAGTTGT others(42): Show TTAGTTGTGTGTTTTTGTTTTTTTTTATGGTTTGCTTGTGTTTGTTTTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	244	0.0041	-49	c.80 others(60): Show c.8056_*8104delTAGTTGTGTGTTTTTGTTTTTTTTTATGGTTTGC TTGTGTTTGTTTTTA	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding		2103		chr11	TogoVar
AMPH_chr7_38378704_38636373	38610299	AAGAAAAG others(42): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0152	1	214	0.0047	-49	c.69+ others(66): Show c.69+20935_69+20983delCTTTTCTTTTCTTTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANGPT2_chr8_6494632_6568245	6505321	TTATATAC others(42): Show TTATATACATATAGAAAGAATATATATATTCTTTCTATATGTATATAGAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0297 a0001c0004t0012g0297	1	333	0.0030	-49	c.132 others(68): Show c.1328-2109_1328-2061delTTCTATATACATATAGAAAGAATATA TATATTCTTTCTATATGTATATA	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANKRD27_chr19_32592006_32680180	32609270	TACTCCTA others(42): Show TACTCCTAGGTGTTTACCCAACAACGTATATATCCACACAAAGGCCTGTA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20300.hp2 HG06807.hp2 NA20300.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0168 a0002c0016t0001g0169 a0002c0016t0001g0168 a0002c0016t0001g0169	2	346	0.0058	-49	c.217 others(68): Show c.2176-1487_2176-1439delTACAGGCCTTTGTGTGGATATATACG TTGTTGGGTAAACACCTAGGAGT	ANKRD27	ENSG00000105186.16	transcript	ENST00000306065.9	protein_coding	22/28			chr19	TogoVar
ANKRD31_chr5_75063297_75241878	75206229	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19030.hp1 NA19082.hp2 HG02630.hp2 NA19030.hp1 NA19082.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0012 a0004c0035 a0003c0003 a0003c0012 a0004c0035	a0003c0003t0001 a0003c0012t0001 a0004c0035t0001 a0003c0003t0001 a0003c0012t0001 a0004c0035t0001	a0003c0003t0001g0108 a0003c0012t0001g0102 a0004c0035t0001g0143 a0003c0003t0001g0108 a0003c0012t0001g0102 a0004c0035t0001g0143	3	326	0.0092	-49	c.403 others(64): Show c.403+133_403+181delATATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206231	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG02040.hp2 others(15): Show HG00544.hp2 HG00621.hp1 HG02040.hp2 HG02258.hp2 HG02280.hp2 HG02622.hp2 HG02922.hp1 HG02965.hp1 HG04184.hp2 HG04204.hp1 NA18945.hp2 NA18960.hp1 NA18963.hp1 NA18967.hp2 NA18974.hp1 NA19005.hp1 NA19056.hp2 NA21309.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0012	a0001c0002 a0003c0003 a0004c0007 others(2): Show a0001c0002 a0003c0003 a0004c0007 a0005c0008 a0012c0036	a0001c0002t0001 a0003c0003t0001 a0004c0007t0001 others(2): Show a0001c0002t0001 a0003c0003t0001 a0004c0007t0001 a0005c0008t0001 a0012c0036t0001	a0001c0002t0001g0051 a0003c0003t0001g0097 a0003c0003t0001g0118 others(15): Show a0001c0002t0001g0051 a0003c0003t0001g0097 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0129 a0004c0007t0001g0146 a0004c0007t0001g0147 a0004c0007t0001g0148 a0004c0007t0001g0149 a0004c0007t0001g0150 a0004c0007t0001g0151 a0004c0007t0001g0152 a0004c0007t0001g0154 a0005c0008t0001g0176 a0005c0008t0001g0177 a0005c0008t0001g0178 a0005c0008t0001g0179 a0012c0036t0001g0318	18	271	0.0664	-49	c.403 others(64): Show c.403+131_403+179delATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206233	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18522.hp2 NA19240.hp1 HG03239.hp1 NA18522.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0008 a0001c0002 a0005c0008	a0001c0002t0001 a0005c0008t0001 a0005c0008t0010 a0001c0002t0001 a0005c0008t0001 a0005c0008t0010	a0001c0002t0001g0084 a0005c0008t0001g0171 a0005c0008t0010g0321 a0001c0002t0001g0084 a0005c0008t0001g0171 a0005c0008t0010g0321	3	306	0.0098	-49	c.403 others(64): Show c.403+129_403+177delATATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206235	AAAAAAAA others(42): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18993.hp2 HG02056.hp1 NA18993.hp2	a0006 a0006	a0006c0010 a0006c0037 a0006c0010 a0006c0037	a0006c0010t0001 a0006c0037t0001 a0006c0010t0001 a0006c0037t0001	a0006c0010t0001g0314 a0006c0037t0001g0313 a0006c0010t0001g0314 a0006c0037t0001g0313	2	312	0.0064	-49	c.403 others(64): Show c.403+127_403+175delATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206237	AAAAAAAA others(42): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp1 HG02647.hp2 others(3): Show HG02132.hp1 HG02135.hp1 HG02647.hp2 NA18940.hp2 NA18941.hp2 NA18970.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0010 a0001c0005 a0006c0010	a0001c0005t0001 a0006c0010t0001 a0001c0005t0001 a0006c0010t0001	a0001c0005t0001g0301 a0006c0010t0001g0011 a0006c0010t0001g0315 others(2): Show a0001c0005t0001g0301 a0006c0010t0001g0011 a0006c0010t0001g0315 a0006c0010t0001g0316 a0006c0010t0001g0317	6	322	0.0186	-49	c.403 others(64): Show c.403+125_403+173delATATATATATATATATATATATATATATAT ATATATATTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD52_chr12_56232807_56263384	56241190	AATAAAAA others(42): Show AATAAAAACTAAAAGCTGCACAATCCTTCTCATCAATAATGGTCATTTGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0061 a0001c0001t0028g0061	1	270	0.0037	-49	c.19 others(60): Show c.1903_*1951delCCAAATGACCATTATTGATGAGAAGGATTGTGCA GCTTTTAGTTTTTAT	ANKRD52	ENSG00000139645.11	transcript	ENST00000267116.8	protein_coding	28/28	1903		chr12	TogoVar
ANKRD55_chr5_56094680_56238330	56222071	GTAGCCTA others(42): Show GTAGCCTAACTGGGAGGCACCTCCCAGTAGGGGCTGACTGACACCTCATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	306	0.0033	-49	c.58+ others(66): Show c.58+10736_58+10784delTATGAGGTGTCAGTCAGCCCCTACTGGG AGGTGCCTCCCAGTTAGGCTA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	2/11			chr5	TogoVar
ANO1_chr11_70073317_70194530	70127039	GTGAACAC others(42): Show GTGAACACTAGAGGCCTCGGTGCAGGCTGGTGCTTGCGGGAAGTGAGACA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00621.hp1 others(28): Show HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00735.hp2 HG01081.hp1 HG01099.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02559.hp1 HG02602.hp1 HG02735.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG04184.hp1 NA18943.hp1 NA18946.hp2 NA18952.hp1 NA18955.hp1 NA19003.hp1 NA19030.hp1 NA19054.hp1 NA19063.hp1 NA19079.hp1 NA19091.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0002t0015 a0001c0003t0001 a0001c0004t0001 a0001c0004t0007 a0001c0011t0001 a0002c0005t0005	a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0001g0135 others(28): Show a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0001g0135 a0001c0001t0002g0187 a0001c0001t0002g0193 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0002t0001g0042 a0001c0002t0001g0093 a0001c0002t0001g0097 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0297 a0001c0002t0002g0214 a0001c0002t0002g0233 a0001c0002t0002g0235 a0001c0002t0002g0243 a0001c0002t0006g0054 a0001c0002t0007g0040 a0001c0002t0015g0232 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0004t0001g0002 a0001c0004t0001g0275 a0001c0004t0001g0287 a0001c0004t0007g0301 a0001c0011t0001g0268 a0002c0005t0005g0205	31	300	0.1033	-49	c.109 others(66): Show c.1097+850_1097+898delACTAGAGGCCTCGGTGCAGGCTGGTGCT TGCGGGAAGTGAGACATGAAC	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANXA2_chr15_60342151_60402986	60366957	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCA	C C	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	328	0.0030	-49	c.149 others(66): Show c.149-2483_149-2435delTGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGAC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60367041	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGATCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0283 a0001c0001t0004g0283	1	328	0.0030	-49	c.149 others(66): Show c.149-2567_149-2519delAGGCGGGGGGCTGATCCCCCCTCCCCCC TCCCGGACGGGGCGGCTGGCC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60367055	GTCCGGGA others(42): Show GTCCGGGAGGGGGGAGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	327	0.0031	-49	c.149 others(66): Show c.149-2581_149-2533delTGGGGCGGCTGGCCAGGCGGGGGGCTGA TCCCCCCTCCCCCCTCCCGGA	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60367137	CCCGGCCA others(42): Show CCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCCGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18952.hp1 NA18971.hp1 HG02602.hp2 NA18952.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0148 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0148	3	332	0.0090	-49	c.149 others(66): Show c.149-2663_149-2615delACGGGGGGCTGACCCCCCCTCCCCCCTC CCGGACGGGGCGGCTGGCCGG	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
ANXA8L1_chr10_46370776_46396778	46391870	GCCTCGTG others(42): Show GCCTCGTGGGCATCTCCCAGTGGGAACACTGGATGGGCTGTACCTGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0012 a0003c0006t0012	a0003c0006t0012g0138 a0003c0006t0012g0138	1	388	0.0026	-49	c.94 others(58): Show c.941_*989delCCTCGTGGGCATCTCCCAGTGGGAACACTGGATGGG CTGTACCTGAGCA	ANXA8L1	ENSG00000264230.9	transcript	ENST00000619162.5	protein_coding		93		chr10	TogoVar
AP1B1_chr22_29322680_29393570	29334724	GGCCATGA others(42): Show GGCCATGAGCTGGCAATGGAGGGATCACTTGGGAAGTAGGGCTGAGGGAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02145.hp1 HG00323.hp2 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0097 a0001c0003t0002g0037 a0001c0003t0002g0097	2	376	0.0053	-49	c.216 others(66): Show c.2164-363_2164-315delATCCCTCAGCCCTACTTCCCAAGTGATC CCTCCATTGCCAGCTCATGGC	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	16/22			chr22	TogoVar
AP1S3_chr2_223750326_223842582	223801031	CCCTACTG others(42): Show CCCTACTGTTCATTTTTTCCAGTTATGCAAATAATTATAACCAGAGAAGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0126 a0001c0001t0028g0126	1	338	0.0030	-49	c.4-2 others(64): Show c.4-23211_4-23163delACTTCTCTGGTTATAATTATTTGCATAACT GGAAAAAATGAACAGTAGG	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP3B1_chr5_77997326_78299698	78096996	TGTCCGGG others(42): Show TGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02723.hp2 others(9): Show HG01496.hp1 HG01884.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0007 others(1): Show a0001c0001 a0001c0012 a0003c0007 a0003c0008	a0001c0001t0002 a0001c0012t0001 a0003c0007t0002 others(1): Show a0001c0001t0002 a0001c0012t0001 a0003c0007t0002 a0003c0008t0002	a0001c0001t0002g0011 a0001c0012t0001g0142 a0003c0007t0002g0052 others(9): Show a0001c0001t0002g0011 a0001c0012t0001g0142 a0003c0007t0002g0052 a0003c0007t0002g0079 a0003c0007t0002g0080 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0162 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039	12	171	0.0702	-49	c.247 others(68): Show c.2470+3908_2470+3956delGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGAC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	21/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78097012	GGGGGGGT others(42): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTT	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	222	0.0045	-49	c.247 others(68): Show c.2470+3892_2470+3940delAACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	21/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78097203	TGCCCGGC others(42): Show TGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	224	0.0045	-49	c.247 others(68): Show c.2470+3701_2470+3749delGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	21/26			chr5	TogoVar
AP3S2_chr15_89825599_89898994	89854104	ATCCGGGA others(42): Show ATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCATGCCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG03453.hp2 HG02723.hp1 HG03209.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0016 a0003c0004t0016 a0001c0001t0016 a0003c0004t0016	a0001c0001t0016g0284 a0001c0001t0016g0285 a0003c0004t0016g0287 a0001c0001t0016g0284 a0001c0001t0016g0285 a0003c0004t0016g0287	3	309	0.0097	-49	c.346 others(68): Show c.346-16431_346-16383delCGGCATGGCTGGCCAGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89854364	TGGCCAGC others(42): Show TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	308	0.0032	-49	c.346 others(68): Show c.346-16691_346-16643delGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89868144	CGCCCCGT others(42): Show CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0026 a0001c0001t0007g0026	1	310	0.0032	-49	c.345 others(66): Show c.345+3282_345+3330delAGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APLP2_chr11_130064894_130149805	130090998	CCCCCCAC others(42): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACA	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	272	0.0037	-49	c.106 others(68): Show c.106-18386_106-18338delCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGC	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APLP2_chr11_130064894_130149805	130091460	ACCTCCCA others(42): Show ACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0158 a0002c0002t0003g0158	1	272	0.0037	-49	c.106 others(68): Show c.106-17962_106-17914delAGACGGGGCGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCC	APLP2	ENSG00000084234.18	transcript	ENST00000338167.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr11	TogoVar
APOOL_chrX_84998877_85098315	85088817	CAGTGAGC others(42): Show CAGTGAGCAAATTAGAAGAATAGGTTAGAAGAATAGGGTAGTAGATACTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(172): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0002t0007	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(169): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0209 a0001c0001t0001g0246 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0182 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0090 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0173 a0001c0001t0003g0189 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0001c0001t0005g0006 a0001c0001t0005g0092 a0001c0001t0005g0112 a0001c0001t0005g0135 a0001c0001t0005g0148 a0001c0001t0005g0177 a0001c0001t0005g0184 a0001c0001t0005g0202 a0001c0001t0005g0206 a0001c0001t0007g0236 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0007g0243 a0001c0001t0007g0245 a0001c0001t0008g0150 a0001c0001t0008g0154 a0001c0001t0008g0155 a0001c0001t0008g0186 a0001c0001t0008g0207 a0001c0001t0009g0094 a0001c0001t0009g0193 a0001c0001t0009g0196 a0001c0001t0009g0197 a0001c0001t0009g0200 a0001c0001t0012g0117 a0001c0001t0012g0121 a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0013g0007 a0001c0001t0013g0087 a0001c0001t0013g0100 a0001c0001t0013g0185 a0001c0001t0014g0214 a0001c0001t0014g0215 a0001c0001t0014g0216 a0001c0001t0015g0235 a0001c0001t0015g0237 a0001c0001t0015g0242 a0001c0001t0017g0119 a0001c0001t0017g0120 a0001c0001t0017g0191 a0001c0001t0018g0167 a0001c0001t0018g0192 a0001c0001t0018g0194 a0001c0001t0019g0151 a0001c0001t0019g0181 a0001c0001t0019g0199 a0001c0001t0020g0122 a0001c0001t0020g0174 a0001c0001t0020g0188 a0001c0001t0021g0048 a0001c0001t0021g0073 a0001c0001t0021g0074 a0001c0001t0022g0009 a0001c0001t0023g0238 a0001c0001t0023g0244 a0001c0001t0026g0161 a0001c0001t0026g0190 a0001c0001t0027g0008 a0001c0001t0028g0178 a0001c0001t0028g0198 a0001c0001t0029g0107 a0001c0001t0029g0136 a0001c0001t0030g0152 a0001c0001t0030g0153 a0001c0001t0031g0113 a0001c0001t0031g0156 a0001c0001t0038g0022 a0001c0001t0039g0023 a0001c0001t0040g0234 a0001c0001t0041g0217 a0001c0001t0042g0228 a0001c0001t0043g0213 a0001c0001t0044g0212 a0001c0001t0047g0010 a0001c0001t0050g0052 a0001c0001t0052g0164 a0001c0001t0055g0007 a0001c0001t0056g0145 a0001c0001t0057g0141 a0001c0001t0058g0208 a0001c0001t0059g0143 a0001c0001t0060g0195 a0001c0001t0061g0187 a0002c0002t0007g0239	175	254	0.6890	-49	c.11 others(60): Show c.1140_*1188delAGTGAGCAAATTAGAAGAATAGGTTAGAAGAATA GGGTAGTAGATACTG	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	1140		chrX	TogoVar
AQP12B_chr2_240671418_240687885	240685090	CCTTCCGC others(42): Show CCTTCCGCAGCGGGAGGGTCCACTCTTGTGGGTTCCCAGTCCTCCCTGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0002 a0016c0018t0002	a0016c0018t0002g0074 a0016c0018t0002g0074	1	178	0.0056	-49	c.-23 others(60): Show c.-2302_-2254delTTCAGGGAGGACTGGGAACCCACAAGAGTGGACC CTCCCGCTGCGGAAG	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding		2206		chr2	TogoVar
AQP12B_chr2_240671418_240687885	240685100	CGGGAGGG others(42): Show CGGGAGGGTCCACTCTTGTGGGTTCCCAGTCCTCCCTGAACTTCCCCAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0022 a0003c0003t0001g0022	2	177	0.0113	-49	c.-23 others(60): Show c.-2312_-2264delTCTGGGGAAGTTCAGGGAGGACTGGGAACCCACA AGAGTGGACCCTCCC	AQP12B	ENSG00000185176.13	transcript	ENST00000407834.4	protein_coding		2216		chr2	TogoVar
AQP8_chr16_25211947_25233932	25216112	CTTTCTTT others(42): Show CTTTCTTTCTTTCTTTCCTTCCTTCTTTTCTTTCTTTCTTTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02572.hp2 others(4): Show HG01891.hp2 HG02258.hp1 HG02572.hp2 HG02818.hp2 HG02896.hp2 HG03195.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006	a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 others(2): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0003t0003 a0002c0006t0002	a0001c0001t0003g0029 a0001c0001t0003g0162 a0002c0002t0002g0049 others(4): Show a0001c0001t0003g0029 a0001c0001t0003g0162 a0002c0002t0002g0049 a0002c0002t0002g0054 a0002c0002t0003g0165 a0002c0003t0003g0148 a0002c0006t0002g0164	7	418	0.0167	-49	c.-93 others(58): Show c.-933_-885delTTTCTTTCTTTCTTTCCTTCCTTCTTTTCTTTCTTT CTTTTTCTTTCTT	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		834		chr16	TogoVar

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