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
ADGRB1_chr8_142444649_142550007	142500314	G G	GCGCCGCT others(39): Show GCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCCCCGCCCCCCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	301	0.0033	46	c.267 others(65): Show c.2675+9511_2675+9512insACCTCCCCACGCGCCGCTCCTCCCCC GCCCCCCACGCCGCTCCTCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500383	G G	GCGCCGCT others(39): Show GCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCTGCCCCCCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	91	0.0110	46	c.267 others(65): Show c.2675+9589_2675+9590insCGCGCCGCTCCTCCCCTGCCCCCCAC GCCGCTCCTCCCCCGCCCCC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB3_chr6_68630282_69394506	69030956	T T	TTTTCTTT others(39): Show TTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0066 a0002c0004t0002g0066	1	66	0.0152	46	c.210 others(67): Show c.2107+12460_2107+12461insCTTTTCTTTTCTTTTCTTTTTTCT TTTCTTTTCTTTTCTTTTCTTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69031551	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	117	0.0085	46	c.210 others(67): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131029926	G G	GTTAGGTT others(39): Show GTTAGGTTGTGGACCCCTCTTAACGGTGACATTCCCAGGCTCTGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0002 a0001c0045t0002	a0001c0045t0002g0091 a0001c0045t0002g0091	1	237	0.0042	46	c.147 others(67): Show c.1473+15604_1473+15605insTTAACGGTGACATTCCCAGGCTCT GGGATTAGGTTGTGGACCCCTC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE3_chr19_14614117_14679844	14617341	C C	CCTCTCTC others(39): Show CCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	90	0.0111	46	c.20 others(57): Show c.2091_*2092insAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAG AGAGAGAGAGAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1775		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617341	C C	CCTTTCTT others(39): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02257.hp1 HG02129.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0138 a0001c0001t0001g0104 a0001c0001t0001g0138	2	91	0.0220	46	c.20 others(57): Show c.2091_*2092insAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1775		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617341	C C	CCTTTCTT others(39): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 NA18985.hp1 HG00741.hp1 NA18985.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0096 a0004c0004t0001g0353 a0001c0001t0001g0096 a0004c0004t0001g0353	2	91	0.0220	46	c.20 others(57): Show c.2091_*2092insAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAG	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1775		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14617342	C C	CTTTCTTT others(39): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0174 a0002c0005t0001g0174	1	363	0.0028	46	c.20 others(57): Show c.2090_*2091insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding		1774		chr19	TogoVar
ADGRE3_chr19_14614117_14679844	14620487	A A	ATATATAT others(39): Show ATATATATGTATATTCATGTATATATGAATATATATGTATATTCATG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0214 a0004c0004t0001g0214	1	367	0.0027	46	c.192 others(65): Show c.1921-1017_1921-1016insCATGAATATACATATATATTCATATA TACATGAATATACATATATA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	15/15			chr19	TogoVar
ADGRG6_chr6_142297007_142451261	142318187	T T	TTATATAT others(39): Show TTATATATATTATATATTTATATATTATATATTATATATTTATATTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00735.hp2 others(11): Show HG00140.hp1 HG00323.hp1 HG00735.hp2 HG01070.hp1 HG01515.hp1 HG01517.hp2 HG01993.hp1 HG02257.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0002 a0002c0003t0003 a0003c0004t0002 a0002c0003t0002 a0002c0003t0003 a0003c0004t0002	a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0158 others(11): Show a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0215 a0002c0003t0002g0217 a0002c0003t0003g0205 a0003c0004t0002g0170	14	137	0.1022	46	c.103 others(63): Show c.103+8550_103+8551insATTATATATTTATATATTATATATTATA TATTTATATTATATATAT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRG7_chr3_100604601_100700479	100605912	C C	CTCTTTCT others(39): Show CTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	192	0.0052	46	c.-39 others(57): Show c.-3945_-3944insTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCCTTCTT	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3688		chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100605912	C C	CTCTTTCT others(39): Show CTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	192	0.0052	46	c.-39 others(57): Show c.-3945_-3944insTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3688		chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100605915	T T	TTTCTTTC others(39): Show TTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	337	0.0030	46	c.-39 others(57): Show c.-3942_-3941insTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCC	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3685		chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100605919	T T	TTTCTCTT others(39): Show TTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	333	0.0030	46	c.-39 others(57): Show c.-3938_-3937insTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCC	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3681		chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100605923	T T	TCTTTCTT others(39): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	334	0.0030	46	c.-39 others(57): Show c.-3934_-3933insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTCC	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3677		chr3	TogoVar
ADGRG7_chr3_100604601_100700479	100605923	T T	TCTTTCTT others(39): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	334	0.0030	46	c.-39 others(57): Show c.-3934_-3933insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCC	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3677		chr3	TogoVar
ADGRL3_chr4_61195326_62083335	61847604	T T	TAATATAT others(39): Show TAATATATTATATATATAATATAAAATATATTATATATATAATATAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02559.hp2 others(2): Show HG02280.hp1 HG02486.hp1 HG02559.hp2 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0008 a0001c0002 a0001c0004 a0001c0008	a0001c0002t0030 a0001c0002t0033 a0001c0004t0015 others(1): Show a0001c0002t0030 a0001c0002t0033 a0001c0004t0015 a0001c0008t0004	a0001c0002t0030g0055 a0001c0002t0033g0058 a0001c0004t0015g0032 others(2): Show a0001c0002t0030g0055 a0001c0002t0033g0058 a0001c0004t0015g0032 a0001c0008t0004g0023 a0001c0008t0004g0029	5	33	0.1515	46	c.148 others(67): Show c.1480+33805_1480+33850dupTAAAATATATTATATATATAATAT AAAATATATTATATATATAATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRL3_chr4_61195326_62083335	62007380	A A	ATATATAT others(39): Show ATATATATATATATATATACACACACACACATATATATATATACACG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0031 a0001c0005t0005g0031	1	56	0.0179	46	c.339 others(65): Show c.3395+9119_3395+9120insTATATATATATATACACACACACACA TATATATATATACACGTATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	21/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRV1_chr5_90553797_91169437	90721576	T T	TAAAATAA others(39): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAAATAAAATATAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0045 a0045	a0045c0023 a0045c0023	a0045c0023t0006 a0045c0023t0006	a0045c0023t0006g0155 a0045c0023t0006g0155	1	8	0.1250	46	c.974 others(63): Show c.9748+533_9748+534insAAATAAAATAAAATAAAAATAAAATATA AAAAAATAAAATAAAATA	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	45/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRV1_chr5_90553797_91169437	91060398	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATTTTTTTTTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0042 a0042	a0042c0022 a0042c0022	a0042c0022t0001 a0042c0022t0001	a0042c0022t0001g0141 a0042c0022t0001g0141	1	98	0.0102	46	c.181 others(69): Show c.18153-12048_18153-12047insATATATATATATATATATATAT ATATTTTTTTTTTATTTATTTATT	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	85/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADRA1D_chr20_4215630_4254287	4231038	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02451.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0227 a0001c0001t0004g0307 a0001c0001t0001g0227 a0001c0001t0004g0307	2	312	0.0064	46	c.111 others(65): Show c.1112-8909_1112-8908insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
ADRB2_chr5_148821611_148833623	148822064	C C	CCTCATTT others(39): Show CCTCATTTGCAAACTTGGGGGAAATAAATTAACTGATATATTAAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	452	0.0022	46	c.-47 others(57): Show c.-4768_-4767insCTCATTTGCAAACTTGGGGGAAATAAATTAACTG ATATATTAAGCT	ADRB2	ENSG00000169252.6	transcript	ENST00000305988.6	protein_coding		4546		chr5	TogoVar
ADRM1_chr20_62297997_62313862	62309603	T T	TGGGAGGA others(39): Show TGGGAGGAGGGTGGGAGGGGGGTGGGAGGAGGGTGGGAGGGGGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA19043.hp2 HG02258.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	2	364	0.0055	46	c.84 others(55): Show c.842_*843insGGGAGGAGGGTGGGAGGGGGGTGGGAGGAGGGTGGG AGGGGGCAGG	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		742		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309634	A A	AGGGTGGG others(39): Show AGGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGTGGGAGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0024 a0001c0007t0001g0024	1	365	0.0027	46	c.87 others(55): Show c.873_*874insGGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGT GGGAGGGGGT	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		773		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309635	G G	GGGTGGGA others(39): Show GGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGTGGGAGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp2 others(21): Show HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG02148.hp2 HG02257.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02896.hp2 HG03017.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG04115.hp1 NA18906.hp1 NA18949.hp1 NA19030.hp2 NA19043.hp1 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0002t0002g0008 a0001c0002t0002g0056 a0001c0002t0002g0063	24	331	0.0725	46	c.87 others(55): Show c.874_*875insGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGT GGGAGGGGGT	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		774		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309636	G G	GGTGGGAG others(39): Show GGTGGGAGGGGGCAGGGGGGTGGAGGGGTGGGGGGGGTGGGAGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	274	0.0036	46	c.87 others(55): Show c.875_*876insGTGGGAGGGGGCAGGGGGGTGGAGGGGTGGGGGGGG TGGGAGGTGT	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		775		chr20	TogoVar
ADRM1_chr20_62297997_62313862	62309636	G G	GGTGGGAG others(39): Show GGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGGTGGGAGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02293.hp2 HG02486.hp2 others(2): Show HG02258.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0018 a0001c0001 a0001c0004 a0005c0018	a0001c0001t0001 a0001c0004t0001 a0005c0018t0001 a0001c0001t0001 a0001c0004t0001 a0005c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0052 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0004t0001g0022 a0005c0018t0001g0026	5	278	0.0180	46	c.87 others(55): Show c.875_*876insGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGGT GGGAGGGGGT	ADRM1	ENSG00000130706.13	transcript	ENST00000253003.7	protein_coding		775		chr20	TogoVar
AFAP1L2_chr10_114289824_114409502	114327147	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	39	0.0256	46	c.316 others(63): Show c.316-3887_316-3886insTATATATATATATATATATATATATATA TATATATATATATATATA	AFAP1L2	ENSG00000169129.16	transcript	ENST00000304129.9	protein_coding	4/18			chr10	TogoVar
AGAP1_chr2_235489043_236136793	235536158	C C	CACACACA others(39): Show CACACACACACACACAGCAGGACCCTGGGGTTTGTGTGTGGCATCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	31	0.0323	46	c.163 others(65): Show c.163+41324_163+41325insGCAGGACCCTGGGGTTTGTGTGTGGC ATCCTACACACACACACACA	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTATAT others(39): Show GTGTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0014 a0001c0012t0014	a0001c0012t0014g0056 a0001c0012t0014g0056	1	72	0.0139	46	c.222 others(65): Show c.2220+6953_2220+6954insGTATATATATATATATATATATATAT ATATATATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86364988	T T	TATATACA others(39): Show TATATACACACACACATATATATATATACACACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03139.hp1 HG02630.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0097 a0001c0001t0001g0102	2	91	0.0220	46	c.237 others(67): Show c.2375-32377_2375-32376insTATACACACACACATATATATATA TACACACACATATATATATACA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0109 a0003c0003t0002g0109	1	8	0.1250	46	c.848 others(61): Show c.848+373_848+374insATATATATATATATATATATTTTTTTTTTT TTTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0089 a0002c0002t0002g0089	1	8	0.1250	46	c.848 others(61): Show c.848+373_848+374insATATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	8	0.1250	46	c.848 others(61): Show c.848+373_848+374insATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL4_chr1_48527854_50028954	49977213	A A	AGCTTCAC others(39): Show AGCTTCACCTCCCATCTTGCATGGGCTTCACCTCCCTTCTTCCAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	104	0.0096	46	c.34+ others(63): Show c.34+46504_34+46549dupCTCTGGAAGAAGGGAGGTGAAGCCCATG CAAGATGGGAGGTGAAGC	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15432369	C C	CACATATA others(39): Show CACATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0220 a0001c0001t0003g0220	1	143	0.0070	46	c.410 others(63): Show c.410-1262_410-1261insATATATATATATATATATATATATATAT ATATATATATATATATGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432379	T T	TACACACA others(39): Show TACACACACACACACATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0001 a0001c0005t0003g0001	1	125	0.0080	46	c.410 others(63): Show c.410-1272_410-1271insGTATGTATATATATATATATATATATAT ATATGTGTGTGTGTGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432379	T T	TACACACA others(39): Show TACACACACACACATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02622.hp2 others(5): Show HG02109.hp1 HG02280.hp2 HG02622.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03579.hp2 NA19240.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0006 a0003c0009 others(1): Show a0001c0001 a0003c0006 a0003c0009 a0004c0008	a0001c0001t0001 a0001c0001t0005 a0003c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0005 a0003c0006t0001 a0003c0006t0002 a0003c0009t0007 a0004c0008t0001	a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0005g0049 others(5): Show a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0005g0049 a0003c0006t0001g0180 a0003c0006t0001g0186 a0003c0006t0002g0033 a0003c0009t0007g0005 a0004c0008t0001g0228	8	132	0.0606	46	c.410 others(63): Show c.410-1272_410-1271insGTATGTATATATATATATATATATATAT ATATATGTGTGTGTGTGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01361.hp2 HG02809.hp1 HG00423.hp1 HG01361.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0011 a0001c0001t0002g0025 a0001c0001t0015g0076 a0001c0001t0001g0011 a0001c0001t0002g0025 a0001c0001t0015g0076	3	146	0.0205	46	c.364 others(65): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATATATATATATATATATAT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATAATATATATGT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19091.hp2 NA18947.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0027 a0002c0002t0005 a0002c0002t0027	a0002c0002t0005g0172 a0002c0002t0027g0175 a0002c0002t0005g0172 a0002c0002t0027g0175	2	138	0.0145	46	c.891 others(65): Show c.891+27011_891+27012insTATATATATATATATATATATATATA ATATATATGTTATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATATTATATATGT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	137	0.0073	46	c.891 others(65): Show c.891+27011_891+27012insTATATATATATATATATATATATATA TTATATATGTTATATATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367904	T T	TATATAAC others(39): Show TATATAACATATGTTATATATAATATATATAATATATGTGATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG01071.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0007 a0001c0001t0001g0008	2	177	0.0113	46	c.891 others(65): Show c.891+27342_891+27343insCATATGTTATATATAATATATATAAT ATATGTGATATATAATATAA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK8_chr9_132720578_132883284	132749960	C C	CGAGATAC others(39): Show CGAGATACTGACAGCACACTCCTAGAGATACTGACAGCACACTCCTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18993.hp2 HG00558.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0041 a0001c0001t0001g0090	2	255	0.0078	46	c.112 others(67): Show c.1122-22427_1122-22426insCAGGAGTGTGCTGTCAGTATCTCT AGGAGTGTGCTGTCAGTATCTC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	11/12			chr9	TogoVar
AKAIN1_chr18_5137911_5202257	5192385	T T	TTTTCTTT others(39): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18968.hp1 NA18950.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0081 a0001c0001t0001g0082	2	102	0.0196	46	c.16+ others(61): Show c.16+4652_16+4653insGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAA	AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	1/1			chr18	TogoVar
AKAIN1_chr18_5137911_5202257	5192385	T T	TTTTCTTT others(39): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	101	0.0099	46	c.16+ others(61): Show c.16+4652_16+4653insGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGAAA	AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	1/1			chr18	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATAGA others(39): Show GATATAGATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0035 a0002c0001t0035	a0002c0001t0035g0171 a0002c0001t0035g0171	1	29	0.0345	46	c.33+ others(63): Show c.33+12451_33+12452insGATATATATATATATATATATATATATA TATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP6_chr14_32324298_32842684	32510438	G G	GTATATAT others(39): Show GTATATATATATACATATATGTATATATATATACATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0018 a0004c0007t0018	a0004c0007t0018g0042 a0004c0007t0018g0042	1	119	0.0084	46	c.325 others(65): Show c.325-25097_325-25096insGTATATATATATACATATATATGTGT ATATATATATATACATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0004 a0004	a0004c0034 a0004c0034	a0004c0034t0008 a0004c0034t0008	a0004c0034t0008g0064 a0004c0034t0008g0064	1	33	0.0303	46	c.273 others(67): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTGTGTAT others(39): Show GTGTGTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01081.hp2 others(20): Show HG00558.hp2 HG00609.hp2 HG01081.hp2 HG01123.hp2 HG01261.hp1 HG01943.hp2 HG01978.hp2 HG02293.hp2 HG02300.hp2 HG03239.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18952.hp1 NA18953.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18989.hp2 NA19010.hp2 NA19078.hp1 NA19080.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0006c0006t0016	a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0127 others(20): Show a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0001t0003g0044 a0001c0001t0003g0059 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0004g0035 a0001c0001t0004g0190 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0204 a0001c0001t0004g0206 a0001c0001t0004g0209 a0001c0001t0006g0297 a0001c0001t0006g0298 a0001c0001t0012g0058 a0001c0001t0012g0062 a0001c0001t0013g0112 a0006c0006t0016g0008	23	134	0.1716	46	c.850 others(65): Show c.850+21820_850+21821insGTGTATACGTATATATATGTGTGTGT GTGTGTGTGTGTGTGTATAT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar

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