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
ZYG11B_chr1_52721453_52832336	52803073	TATATATA others(77): Show TATATATATATACACATATATATATACATATATATATATATATATACACA CATATATATATACACACATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0202 a0001c0003t0012g0202	1	352	0.0028	-84	c.169 others(102): Show c.1695+950_1695+1033delTATATATATACATATATATATATATAT ATACACACATATATATATACACACATATATATATATATACACATATATAT ATACACA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52803089	TATATATA others(77): Show TATATATATACATATATATATATATATATACACACATATATATATACACA CATATATATATATATACACATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0182 a0001c0001t0034g0182	1	352	0.0028	-84	c.169 others(102): Show c.1695+960_1695+1043delCATATATATATATATATATACACACAT ATATATATACACACATATATATATATATACACATATATATATACACACAT ATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCC4_chr13_95014835_95306451	95196654	AAGGAAGG others(76): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG02083.hp2 others(6): Show HG01099.hp2 HG01261.hp2 HG02083.hp2 HG02615.hp2 HG02818.hp1 HG03704.hp2 NA18968.hp2 NA19012.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0050 others(2): Show a0001c0001 a0001c0014 a0001c0050 a0001c0052 a0001c0053	a0001c0001t0001 a0001c0001t0002 a0001c0014t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0007 a0001c0050t0005 a0001c0052t0012 a0001c0053t0002	a0001c0001t0001g0103 a0001c0001t0001g0144 a0001c0001t0002g0080 others(6): Show a0001c0001t0001g0103 a0001c0001t0001g0144 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0014t0007g0172 a0001c0014t0007g0191 a0001c0050t0005g0038 a0001c0052t0012g0065 a0001c0053t0002g0068	9	248	0.0363	-83	c.116 others(102): Show c.1162-1800_1162-1718delCCCTTCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	8/30			chr13	TogoVar
ABR_chr17_998519_1184981	1064156	TTATGTGA others(76): Show TTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTG AACTGAGGGCTATGCATGTTCCTCTAGACGCTGC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03453.hp1 NA18906.hp1 HG03209.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0042 a0001c0002t0060 a0001c0002t0007 a0001c0002t0042 a0001c0002t0060	a0001c0002t0007g0295 a0001c0002t0042g0016 a0001c0002t0060g0234 a0001c0002t0007g0295 a0001c0002t0042g0016 a0001c0002t0060g0234	3	337	0.0089	-83	c.118 others(102): Show c.1182+2838_1182+2920delGCAGCGTCTAGAGGAACATGCATAGC CCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGT TCACATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACACA_chr17_37079992_37411836	37302502	ACCCGGCC others(76): Show ACCCGGCCGGTCTGGAACTCTTGACCTCAGGTGATCCATCCGCCTCAGCC TCTGGGTTTGGGATTACAGGCGTGAGCCACCACC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG03516.hp1 HG02258.hp2 HG02451.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0096 a0001c0001t0012g0048 a0001c0001t0012g0095 a0001c0001t0001g0096 a0001c0001t0012g0048 a0001c0001t0012g0095	3	299	0.0100	-83	c.339 others(102): Show c.339-17615_339-17533delGGTGGTGGCTCACGCCTGTAATCCCA AACCCAGAGGCTGAGGCGGATGGATCACCTGAGGTCAAGAGTTCCAGACC GGCCGGG	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	3/55			chr17	TogoVar
ACAT2_chr6_159757045_159784112	159769036	GAAATCAA others(76): Show GAAATCAAAAGCACTCTTGTCTTTAGTATACATGTAAAACTTAAGAAACA GAATAGACATTTTAGAGTTAAAGAATCAAACCCT	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0117 a0002c0003t0001g0117	1	404	0.0025	-83	c.490 others(98): Show c.490+409_490+491delAAATCAAAAGCACTCTTGTCTTTAGTATAC ATGTAAAACTTAAGAAACAGAATAGACATTTTAGAGTTAAAGAATCAAAC CCT	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	4/8			chr6	TogoVar
ADAMTS17_chr15_99966437_100346975	100102444	CCGACCAA others(76): Show CCGACCAAAGGGGATCTACATTTGAGGGCCAACTGAAGGGGATCTACATT TGAGGGCCGACCGAAGGGGATCTACATTTGAGGG	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0060 a0001c0035t0060	a0001c0035t0060g0157 a0001c0035t0060g0157	1	228	0.0044	-83	c.201 others(102): Show c.2017-6051_2017-5969delCCCTCAAATGTAGATCCCCTTCGGTC GGCCCTCAAATGTAGATCCCCTTCAGTTGGCCCTCAAATGTAGATCCCCT TTGGTCG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	14/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1540510	CCCAGACC others(76): Show CCCAGACCCCACTCAGACGTAGTTCAGACCCTGGATCACAGCCGTCCAGA CCCCACTCAGATGTAGTTCAGACCCTGGATCCGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(34): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG01243.hp2 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02258.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp2 HG02886.hp2 HG03017.hp1 HG03669.hp2 HG04184.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18967.hp2 NA18982.hp1 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19070.hp1 NA19086.hp1 NA19086.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0010 a0011	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0002c0017 a0003c0006 a0009c0016 a0010c0013 a0011c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0003t0001 a0001c0003t0009 a0001c0003t0060 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0042 a0002c0002t0043 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0017t0006 a0003c0006t0067 a0009c0016t0014 a0010c0013t0007 a0011c0010t0058	a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 others(34): Show a0001c0001t0001g0065 a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0030g0034 a0001c0001t0031g0059 a0001c0001t0035g0079 a0001c0001t0054g0083 a0001c0001t0055g0089 a0001c0001t0056g0081 a0001c0003t0001g0070 a0001c0003t0009g0046 a0001c0003t0060g0104 a0002c0002t0002g0050 a0002c0002t0002g0067 a0002c0002t0004g0082 a0002c0002t0004g0084 a0002c0002t0004g0088 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0005g0028 a0002c0002t0006g0011 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0042g0061 a0002c0002t0043g0053 a0002c0002t0062g0093 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0017t0006g0010 a0003c0006t0067g0080 a0009c0016t0014g0008 a0010c0013t0007g0006 a0011c0010t0058g0099	37	106	0.3491	-83	c.101 others(104): Show c.101-161433_101-161351delACGGATCCAGGGTCTGAACTACAT CTGAGTGGGGTCTGGACGGCTGTGATCCAGGGTCTGAACTACGTCTGAGT GGGGTCTGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1540760	GCCATCCA others(76): Show GCCATCCAGACCCCACTCAGATGTAGTTCAGACCCTGGATCACAGCCATC CAGACCCCACTCAGATGTAGTTCAGACCCTGGAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG02615.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0065 a0001c0001t0030g0034 a0001c0001t0001g0065 a0001c0001t0030g0034	2	106	0.0189	-83	c.101 others(104): Show c.101-161683_101-161601delATCCAGGGTCTGAACTACATCTGA GTGGGGTCTGGATGGCTGTGATCCAGGGTCTGAACTACATCTGAGTGGGG TCTGGATGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1542015	TCCAGACC others(76): Show TCCAGACCCCACTCAGACTCAGTTCAGACCCTGGATCCGTCCAGACCCCA CTCACACTCAGTTCAGACCCTGGATCACAGCCGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp1 HG02083.hp1 others(1): Show HG02040.hp2 HG02080.hp1 HG02083.hp1 NA18967.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0006 a0002c0002t0008 others(1): Show a0001c0001t0011 a0002c0002t0006 a0002c0002t0008 a0002c0002t0041	a0001c0001t0011g0017 a0002c0002t0006g0019 a0002c0002t0008g0058 others(1): Show a0001c0001t0011g0017 a0002c0002t0006g0019 a0002c0002t0008g0058 a0002c0002t0041g0074	4	106	0.0377	-83	c.101 others(104): Show c.101-162938_101-162856delGCGGCTGTGATCCAGGGTCTGAAC TGAGTGTGAGTGGGGTCTGGACGGATCCAGGGTCTGAACTGAGTCTGAGT GGGGTCTGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRA2_chr8_37791883_37849896	37824180	CGCCACCA others(76): Show CGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGTTTCAC CATGTTAGTCAGGCTGGTCTCGAACTCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0126 a0001c0003t0001g0126	1	370	0.0027	-83	c.339 others(100): Show c.339-4707_339-4625delGCCACCACGCCCAGCTAATTTTTGTATT TTTAGTAGAGATGGGTTTCACCATGTTAGTCAGGCTGGTCTCGAACTCCT GACCT	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	2/18			chr8	TogoVar
AGRN_chr1_1015120_1061116	1049050	TGCAGCTC others(76): Show TGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGG CGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGG	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02559.hp1 HG02572.hp1 others(3): Show HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 NA19030.hp1 NA19043.hp1	a0002 a0002	a0002c0016 a0002c0017 a0002c0036 others(1): Show a0002c0016 a0002c0017 a0002c0036 a0002c0050	a0002c0016t0001 a0002c0017t0002 a0002c0036t0001 others(1): Show a0002c0016t0001 a0002c0017t0002 a0002c0036t0001 a0002c0050t0001	a0002c0016t0001g0033 a0002c0016t0001g0158 a0002c0017t0002g0040 others(3): Show a0002c0016t0001g0033 a0002c0016t0001g0158 a0002c0017t0002g0040 a0002c0017t0002g0041 a0002c0036t0001g0064 a0002c0050t0001g0042	6	210	0.0286	-83	c.429 others(97): Show c.4298+6_4298+88delCGGGGAGGGGACGGGGCCGGGGCAGCTCAGG TGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGGGCAGCTCAGGTG GG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALOXE3_chr17_8090900_8123514	8107882	AAAGAAAG others(76): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01168.hp2 others(2): Show HG00738.hp1 HG01069.hp1 HG01168.hp2 HG01192.hp2 HG01993.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0004c0007 others(1): Show a0001c0001 a0001c0002 a0004c0007 a0007c0010	a0001c0001t0002 a0001c0002t0001 a0004c0007t0001 others(1): Show a0001c0001t0002 a0001c0002t0001 a0004c0007t0001 a0007c0010t0004	a0001c0001t0002g0007 a0001c0001t0002g0246 a0001c0002t0001g0041 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0246 a0001c0002t0001g0041 a0004c0007t0001g0217 a0007c0010t0004g0376	5	422	0.0119	-83	c.168 others(100): Show c.1684+503_1684+585delCTTCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMBN_chr4_70587256_70612288	70599829	AACTATTT others(76): Show AACTATTTGCATATTTATTTAAAATAGGAAGATACAGCCTCCAAAATATG AGACCTATATTAAAGATATCAGTAAACAATCCTC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0119 a0001c0001t0013g0119	1	480	0.0021	-83	c.294 others(98): Show c.294+184_294+266delACTATTTGCATATTTATTTAAAATAGGAAG ATACAGCCTCCAAAATATGAGACCTATATTAAAGATATCAGTAAACAATC CTC	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding	5/12			chr4	TogoVar
ANKS1A_chr6_34884255_35096406	34974005	CCCCTTCC others(76): Show CCCCTTCCTCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCTCTTCCCCT TCCCTTCCCCTTCCATTCCCCTTCCATTCCCCTT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0163	1	320	0.0031	-83	c.435 others(100): Show c.435+3847_435+3929delTCTTCCCTTTCCCTTCCCTTCCCCTTCC CCTTCTCTTCCCCTTCCCTTCCCCTTCCATTCCCCTTCCATTCCCCTTCC CTTCC	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO5_chr11_22188085_22288357	22269184	AAAAGGGA others(76): Show AAAAGGGAAGGGAAGGGAAGAGAAGGGAAGAAGGAAAGAAGAAAGGAAGG AAGGAAGGAGAAAAAAAGAAAGAGAAGGAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02976.hp2 HG03453.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0030 a0001c0001t0025 a0001c0001t0030	a0001c0001t0025g0296 a0001c0001t0030g0016 a0001c0001t0030g0017 a0001c0001t0025g0296 a0001c0001t0030g0016 a0001c0001t0030g0017	3	364	0.0082	-83	c.189 others(102): Show c.1899-1127_1899-1045delAAAGGGAAGGGAAGGGAAGAGAAGGG AAGAAGGAAAGAAGAAAGGAAGGAAGGAAGGAGAAAAAAAGAAAGAGAAG GAAAAGG	ANO5	ENSG00000171714.13	transcript	ENST00000324559.9	protein_coding	17/21			chr11	TogoVar
ARHGAP6_chrX_11132544_11670920	11590773	CTCGAAAA others(76): Show CTCGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp1 HG03486.hp1 others(3): Show HG02895.hp1 HG02965.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0010 a0001c0001 a0001c0004 a0004c0010	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0004t0005 a0004c0010t0017	a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0007g0013 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0007g0013 a0001c0001t0008g0049 a0001c0004t0005g0047 a0004c0010t0017g0119	6	144	0.0417	-83	c.588 others(102): Show c.588+73385_588+73467delCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCGA	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGEF38_chr4_105547620_105685914	105561394	GTAGAATA others(76): Show GTAGAATAATAGAATAGAATAGAATAGAATGGAATAGAATAGAATAGAAT AGAATGGAATAGAATAGAATAGAATAGAATAGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0185 a0002c0001t0001g0185	1	186	0.0054	-83	c.196 others(100): Show c.196+8441_196+8523delATAGAATAGAATAGAATAGAATGGAATA GAATAGAATAGAATAGAATGGAATAGAATAGAATAGAATAGAATAGAATA GAATA	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ASAP1_chr8_130047104_130448674	130049401	AGGGGAAC others(76): Show AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	308	0.0033	-83	c.52 others(94): Show c.5247_*5329delCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2702		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049435	GGGGCAGA others(76): Show GGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG GGGGAACACATGGGGGCAGAGGGGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02622.hp2 others(2): Show HG02055.hp1 HG02451.hp2 HG02622.hp2 HG02965.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0010 a0001c0001t0001 a0002c0002t0010	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0159 a0002c0002t0010g0050	5	308	0.0162	-83	c.52 others(94): Show c.5213_*5295delTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC CTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2668		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049673	GGAACACA others(76): Show GGAACACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACAT GGAGGGCAGAGGGGAACACATGGGGGGCAGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(38): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02523.hp1 HG03239.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp1 NA18944.hp1 NA18947.hp1 NA18950.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18975.hp2 NA18985.hp1 NA18990.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19074.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0002t0003 a0002c0002t0015 others(4): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0015 a0002c0002t0016 a0002c0002t0020 a0002c0002t0023 a0002c0003t0001	a0002c0002t0001g0137 a0002c0002t0003g0059 a0002c0002t0003g0065 others(38): Show a0002c0002t0001g0137 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0113 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0152 a0002c0002t0003g0197 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0259 a0002c0002t0003g0262 a0002c0002t0003g0264 a0002c0002t0003g0284 a0002c0002t0015g0239 a0002c0002t0016g0132 a0002c0002t0016g0133 a0002c0002t0020g0299 a0002c0002t0020g0300 a0002c0002t0023g0124 a0002c0003t0001g0029	41	308	0.1331	-83	c.49 others(94): Show c.4975_*5057delTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCC ATGTGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCTCCATGTGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2430		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050116	TGGGGGGC others(76): Show TGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCA GAGGAGAACACATGGGGGCAGAGGGGAATACATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0055 a0002c0002t0003g0082 a0002c0002t0003g0083	3	308	0.0097	-83	c.45 others(94): Show c.4532_*4614delCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1987		chr8	TogoVar
ASMT_chrX_1610059_1648081	1637081	GTGAGATA others(76): Show GTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGCTTCACGAGGACGTGGGCACAGCCTCTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	223	0.0045	-83	c.910 others(98): Show c.910+525_910+607delGATAAGGACTGTGTCCCAGCTCTCCTGTGA GGTCCACCCATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTA TGA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1637787	TCATGAGG others(76): Show TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0216 a0002c0002t0002g0216	1	223	0.0045	-83	c.910 others(100): Show c.910+1308_910+1390delGCACATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCC TGATG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638016	ATCCATCC others(76): Show ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 homoSapiens_chm13v2.hp1 HG00741.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0218 a0002c0002t0002g0216 a0001c0001t0002g0218 a0002c0002t0002g0216	2	223	0.0090	-83	c.910 others(100): Show c.910+1464_910+1546delCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638419	GTCCTGTG others(76): Show GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 homoSapiens_chm13v2.hp1 HG01517.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0216 a0002c0002t0002g0191 a0002c0002t0002g0216	2	223	0.0090	-83	c.910 others(100): Show c.910+1869_910+1951delATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638429	ATCCATCC others(76): Show ATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG01884.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0215 a0001c0001t0002g0135 a0001c0001t0001g0215 a0001c0001t0002g0135	2	223	0.0090	-83	c.910 others(100): Show c.910+1877_910+1959delCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CATCC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638912	GTCCTGTG others(76): Show GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	223	0.0045	-83	c.910 others(100): Show c.910+2362_910+2444delATCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639271	TCATGAGG others(76): Show TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCATCCATCCTGATGGCA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	223	0.0045	-83	c.910 others(100): Show c.910+2748_910+2830delGGGACCATGTCCCAGCTCTCCTGTGAGG TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG AGATA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640065	GTCCTGTG others(76): Show GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19030.hp2 HG03486.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0009 a0001c0003 a0003c0009	a0001c0003t0002 a0003c0009t0001 a0001c0003t0002 a0003c0009t0001	a0001c0003t0002g0133 a0003c0009t0001g0011 a0001c0003t0002g0133 a0003c0009t0001g0011	2	223	0.0090	-83	c.911 others(100): Show c.911-2728_911-2646delATCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640395	GTCCTGTG others(76): Show GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	223	0.0045	-83	c.911 others(100): Show c.911-2398_911-2316delATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640723	GTCCTGTG others(76): Show GTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0124 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0124	3	223	0.0135	-83	c.911 others(100): Show c.911-2070_911-1988delATCCATCCCTCCTGATGGTTCATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640888	GTCCTGTG others(76): Show GTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	223	0.0045	-83	c.911 others(100): Show c.911-1905_911-1823delATCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1640931	GCACAGCC others(76): Show GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	223	0.0045	-83	c.911 others(100): Show c.911-1854_911-1772delAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT GTGTG	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641053	GTCCTGTG others(76): Show GTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	223	0.0045	-83	c.911 others(100): Show c.911-1735_911-1653delTCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1641712	TTCTCCTG others(76): Show TTCTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACA GCCTCTCTGTGTGTGATAAGGACAGTGTTCCAGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	223	0.0045	-83	c.911 others(99): Show c.911-1068_911-986delCTGGTGGTCCATGAGTACATGGACACAGC CTCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACC CATC	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATAD3C_chr1_1444689_1475163	1445179	CGCAACGG others(76): Show CGCAACGGTCCCATCGGAGAGCAGACCCCTCGGCCTGGGCACGCAACGGG CCCATCGGAGAACGAGACCCCTCGGCCTGGGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0107 a0001c0004t0107	a0001c0004t0107g0050 a0001c0004t0107g0050	1	410	0.0024	-83	c.-55 others(94): Show c.-5504_-5422delGCAACGGTCCCATCGGAGAGCAGACCCCTCGGCC TGGGCACGCAACGGGCCCATCGGAGAACGAGACCCCTCGGCCTGGGCAT	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding		4509		chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1445187	TCCCATCG others(76): Show TCCCATCGGAGAGCAGACCCCTCGGCCTGGGCACGCAACGGGCCCATCGG AGAACGAGACCCCTCGGCCTGGGCATGCAACGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 NA19030.hp1 HG02293.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0035 a0001c0003 a0001c0035	a0001c0003t0004 a0001c0035t0131 a0001c0003t0004 a0001c0035t0131	a0001c0003t0004g0186 a0001c0035t0131g0139 a0001c0003t0004g0186 a0001c0035t0131g0139	2	410	0.0049	-83	c.-54 others(94): Show c.-5496_-5414delCCCATCGGAGAGCAGACCCCTCGGCCTGGGCACG CAACGGGCCCATCGGAGAACGAGACCCCTCGGCCTGGGCATGCAACGGG	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding		4501		chr1	TogoVar
ATP10B_chr5_160558120_160857211	160653232	TGTAGTAT others(76): Show TGTAGTATATATACATACGTAGTATATATACATACGTACATACATACATA GGTAGTATATATACATACGTACATACATACATAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02717.hp1 others(8): Show HG02451.hp2 HG02486.hp1 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03471.hp1 NA18986.hp2 NA19043.hp1	a0001 a0007 a0008 others(3): Show a0001 a0007 a0008 a0009 a0018 a0023	a0001c0005 a0001c0006 a0007c0015 others(4): Show a0001c0005 a0001c0006 a0007c0015 a0008c0012 a0009c0016 a0018c0019 a0023c0024	a0001c0005t0012 a0001c0006t0024 a0007c0015t0004 others(4): Show a0001c0005t0012 a0001c0006t0024 a0007c0015t0004 a0008c0012t0017 a0009c0016t0012 a0018c0019t0048 a0023c0024t0008	a0001c0005t0012g0002 a0001c0005t0012g0006 a0001c0006t0024g0109 others(8): Show a0001c0005t0012g0002 a0001c0005t0012g0006 a0001c0006t0024g0109 a0007c0015t0004g0176 a0007c0015t0004g0187 a0008c0012t0017g0186 a0008c0012t0017g0196 a0009c0016t0012g0164 a0009c0016t0012g0188 a0018c0019t0048g0113 a0023c0024t0008g0178	11	236	0.0466	-83	c.676 others(100): Show c.676-4059_676-3977delCTATGTATGTATGTACGTATGTATATAT ACTACCTATGTATGTATGTACGTATGTATATATACTACGTATGTATATAT ACTAC	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
AUTS2_chr7_69593475_70798506	70496961	GTCACATC others(76): Show GTCACATCAGCGTCGATCACACATCCCACTCACACACACCACGTACACAG TCAGACACACACACACACCCCACACATGCACACA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03453.hp2 HG03516.hp2 HG02717.hp1 HG03453.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0030 a0001c0001t0004g0054 a0001c0001t0018g0003 a0001c0001t0001g0030 a0001c0001t0004g0054 a0001c0001t0018g0003	3	76	0.0395	-83	c.690 others(102): Show c.690+61263_690+61345delATCACATCAGCGTCGATCACACATCC CACTCACACACACCACGTACACAGTCAGACACACACACACACCCCACACA TGCACAC	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
B4GALNT3_chr12_454939_568509	545786	AAGAGGAA others(76): Show AAGAGGAATGGGGAGGAGCGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGG TGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG03486.hp2 HG02258.hp2 HG02572.hp2 HG03486.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0017 a0007c0008t0002 a0007c0008t0017	a0007c0008t0002g0004 a0007c0008t0002g0307 a0007c0008t0017g0178 a0007c0008t0002g0004 a0007c0008t0002g0307 a0007c0008t0017g0178	3	394	0.0076	-83	c.639 others(98): Show c.639+324_639+406delATGGGGAGGAGCGAGGAGTGGGGAGGAGCG AGGAGTGGGGAGGTGAGGAGTGGGGAGGAGCGAGGAGTGGGGAGGTGAGA GGA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALT4_chr3_119206742_119245878	119245322	CCCTTGAA others(76): Show CCCTTGAACAGAATCCAGGGGTGGGCGGACAAATGGAAACTAATGCAGAT ACAAGGGCAGAAGCTGGGCACCCAGCATTGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	1	436	0.0023	-83	c.-49 others(94): Show c.-4919_-4837delCCTGCAATGCTGGGTGCCCAGCTTCTGCCCTTGT ATCTGCATTAGTTTCCATTTGTCCGCCCACCCCTGGATTCTGTTCAAGG	B4GALT4	ENSG00000121578.13	transcript	ENST00000393765.7	protein_coding		4445		chr3	TogoVar
BAG2_chr6_57167326_57194833	57189057	ATTTATAG others(76): Show ATTTATAGGTTAAAAATAAAGCCATTGATGAGTGATAATCAGTTTTAACA GAGTTCACGCAATTATCTTAGCTGGAAAGCTACT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0012 a0001c0001t0026g0012	1	244	0.0041	-83	c.48 others(94): Show c.4868_*4950delTTTATAGGTTAAAAATAAAGCCATTGATGAGTGA TAATCAGTTTTAACAGAGTTCACGCAATTATCTTAGCTGGAAAGCTACT	BAG2	ENSG00000112208.11	transcript	ENST00000370693.5	protein_coding	3/3	4868		chr6	TogoVar
BBS4_chr15_72681207_72743473	72725799	CCCCATCC others(76): Show CCCCATCCCCCTTCCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCC CCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0390 a0001c0001t0001g0390	1	398	0.0025	-83	c.587 others(100): Show c.587+1148_587+1230delATCCCCCTTCCCCCATCCCCCTTTCCCC ATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCTTTCCCCATCCCCCT TTCCC	BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
BCAS1_chr20_53938541_54075594	53983387	ACATAGGT others(76): Show ACATAGGTACTATTATCATTTGCATCTTACAAGTGAGGAAACGAAAGCTC ATAGAGACAAACTGAGACTCAAAGTCAGAGCTGT	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0036 a0036	a0036c0044 a0036c0044	a0036c0044t0003 a0036c0044t0003	a0036c0044t0003g0119 a0036c0044t0003g0119	1	364	0.0028	-83	c.127 others(102): Show c.1275+1817_1275+1899delACAGCTCTGACTTTGAGTCTCAGTTT GTCTCTATGAGCTTTCGTTTCCTCACTTGTAAGATGCAAATGATAATAGT ACCTATG	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	8/12			chr20	TogoVar
BCL11A_chr2_60452194_60558654	60507213	AGGAAGGA others(76): Show AGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0134 a0001c0001t0008g0134	1	262	0.0038	-83	c.386 others(102): Show c.386-38463_386-38381delCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCC	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	2/3			chr2	TogoVar
BRINP3_chr1_190092658_190482864	190482364	CATATATA others(76): Show CATATATATGTGTATATATATATACTATATATACACATATATATACGTAT ATATATACATATATATACACATATATATACGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0021 a0004c0004t0001g0021	1	240	0.0042	-83	c.-50 others(94): Show c.-5050_-4968delATACGTATATATATGTGTATATATATGTATATAT ATACGTATATATATGTGTATATATAGTATATATATATACACATATATAT	BRINP3	ENSG00000162670.11	transcript	ENST00000367462.5	protein_coding		4501		chr1	TogoVar
BRSK2_chr11_1384934_1467689	1409993	CGTGTTTG others(76): Show CGTGTTTGGGGGGGTTTGTGACGTCGGCCTCGCAGAGCGGTGACGGTCGC AGAGTCTGTGTTTTGGGGGGTTTGTGACGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01123.hp2 others(22): Show HG00639.hp2 HG01069.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02273.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03041.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0026 others(1): Show a0001c0001 a0001c0003 a0001c0026 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0048 a0001c0001t0057 a0001c0001t0068 a0001c0001t0074 a0001c0003t0003 a0001c0026t0018 a0002c0002t0002	a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0154 others(22): Show a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0154 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0004g0161 a0001c0001t0004g0172 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0185 a0001c0001t0004g0190 a0001c0001t0004g0314 a0001c0001t0004g0316 a0001c0001t0006g0215 a0001c0001t0006g0218 a0001c0001t0006g0251 a0001c0001t0048g0342 a0001c0001t0057g0184 a0001c0001t0068g0243 a0001c0001t0074g0213 a0001c0003t0003g0291 a0001c0026t0018g0183 a0002c0002t0002g0318	25	360	0.0694	-83	c.91+ others(100): Show c.91+19700_91+19782delCTGTGTTTGGGGGGGTTTGTGACGTCGG CCTCGCAGAGCGGTGACGGTCGCAGAGTCTGTGTTTTGGGGGGTTTGTGA CGAGT	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTBD19_chr1_44803523_44820585	44816481	GTATATTA others(76): Show GTATATTATATATACACATAGATGTGAGTATATTATATATACACATAGAT GTGTGTATATTATATATACACATAGATGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 NA18612.hp1 NA19084.hp1 HG01069.hp1 NA18612.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016	a0001c0001t0008g0005 a0001c0001t0012g0006 a0001c0001t0016g0079 a0001c0001t0008g0005 a0001c0001t0012g0006 a0001c0001t0016g0079	3	436	0.0069	-83	c.27 others(94): Show c.2710_*2792delTATATTATATATACACATAGATGTGAGTATATTA TATATACACATAGATGTGTGTATATTATATATACACATAGATGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		897		chr1	TogoVar
CACNG3_chr16_24251335_24367412	24317630	GACAGAAA others(76): Show GACAGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01256.hp2 HG02165.hp2 others(16): Show HG00558.hp2 HG01256.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02970.hp1 HG03130.hp1 HG03453.hp1 HG03486.hp2 NA18612.hp1 NA19011.hp1 NA19056.hp2 NA19058.hp2 NA19080.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0156 a0001c0001t0001g0178 others(16): Show a0001c0001t0001g0084 a0001c0001t0001g0156 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0248 a0001c0001t0001g0266 a0001c0001t0001g0290 a0001c0001t0001g0328 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0351 a0001c0001t0001g0363 a0001c0001t0002g0138 a0001c0001t0002g0310 a0001c0001t0002g0316 a0001c0001t0002g0342 a0001c0002t0001g0361	19	366	0.0519	-83	c.212 others(102): Show c.212-29102_212-29020delCAGAAAGAAAGAAAAGAAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar

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