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
SEMA6A_chr5_116438555_116579823	116448196	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0145 a0001c0003t0005g0145	1	273	0.0037	23	c.189 others(40): Show c.1895-386_1895-385insATTTTTTTTTTTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	18/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116524797	C C	CACACAGA others(16): Show CACACAGACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	302	0.0033	23	c.-38 others(42): Show c.-38-19816_-38-19815insTGTGTGTGTGTGTGTGTCTGTGT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar
SENP1_chr12_48037897_48111079	48058907	T T	TACTGACA others(16): Show TACTGACAAATTTGTTTCTTCTGC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0384	1	392	0.0026	23	c.140 others(42): Show c.1407+4780_1407+4802dupGCAGAAGAAACAAATTTGTCAGT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185587570	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp1 HG03704.hp1 others(11): Show HG02071.hp2 HG02165.hp1 HG03704.hp1 HG03831.hp2 HG04199.hp2 NA18941.hp2 NA18948.hp1 NA18957.hp1 NA18962.hp2 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA19001.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0012 a0002c0002t0016 others(6): Show a0002c0002t0007 a0002c0002t0012 a0002c0002t0016 a0002c0002t0083 a0002c0002t0084 a0002c0002t0088 a0002c0002t0091 a0002c0002t0092 a0002c0002t0096	a0002c0002t0007g0311 a0002c0002t0007g0312 a0002c0002t0007g0315 others(11): Show a0002c0002t0007g0311 a0002c0002t0007g0312 a0002c0002t0007g0315 a0002c0002t0007g0318 a0002c0002t0007g0322 a0002c0002t0007g0324 a0002c0002t0012g0321 a0002c0002t0016g0316 a0002c0002t0083g0320 a0002c0002t0084g0319 a0002c0002t0088g0317 a0002c0002t0091g0313 a0002c0002t0092g0323 a0002c0002t0096g0314	14	219	0.0639	23	c.101 others(40): Show c.101+1070_101+1071insTTTTTTTTTTTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185628417	A A	ATGTGCCA others(16): Show ATGTGCCACCACGCCCGGTGACAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0183 a0001c0003t0183	a0001c0003t0183g0022 a0001c0003t0183g0022	1	358	0.0028	23	c.170 others(42): Show c.1708-1364_1708-1342dupTGTGCCACCACGCCCGGTGACAT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185631473	T T	TCCCTCTC others(16): Show TCCCTCTCCCTCCCTCCCCCTCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0103 a0002c0002t0103	a0002c0002t0103g0225 a0002c0002t0103g0225	1	251	0.0040	23	c.16 others(34): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCCTC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185631477	T T	TCTCCCTC others(16): Show TCTCCCTCCCTCCCCCTCCCCCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG01978.hp2 HG04204.hp1 HG01192.hp1 HG01978.hp2 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0098 a0002c0002t0106 a0002c0002t0003 a0002c0002t0098 a0002c0002t0106	a0002c0002t0003g0230 a0002c0002t0098g0244 a0002c0002t0106g0241 a0002c0002t0003g0230 a0002c0002t0098g0244 a0002c0002t0106g0241	3	337	0.0089	23	c.16 others(34): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCTCC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0133 a0001c0001t0016g0133	1	67	0.0149	23	c.188 others(42): Show c.1885-8827_1885-8826insAAAAAAAAAAAAAAATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	67	0.0149	23	c.188 others(42): Show c.1885-8827_1885-8826insAAAAAAAAAAATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19056.hp1 NA18999.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0061 a0001c0001t0002g0063	2	68	0.0294	23	c.188 others(42): Show c.1885-8827_1885-8826insAAAAAAATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0085 a0001c0005t0018g0085	1	67	0.0149	23	c.188 others(42): Show c.1885-8828_1885-8827insTATATATATATATATATATATAT	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9			chr3	TogoVar
SENP6_chr6_75596880_75723281	75705924	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01516.hp1 HG01517.hp1 HG01243.hp2 HG01516.hp1 HG01517.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0042 a0002c0003t0003g0054 a0002c0003t0003g0055 a0002c0003t0003g0042 a0002c0003t0003g0054 a0002c0003t0003g0055	3	154	0.0195	23	c.271 others(42): Show c.2716+2852_2716+2853insTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	19/23			chr6	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	165	0.0061	23	c.43 others(34): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SENP7_chr3_101319205_101518212	101499535	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG01106.hp1 others(6): Show HG00140.hp2 HG00642.hp1 HG01106.hp1 HG01516.hp1 HG01517.hp1 HG02486.hp1 HG02970.hp1 HG03209.hp2 HG03710.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0010 a0003c0004 a0006c0010	a0003c0004t0002 a0006c0010t0002 a0003c0004t0002 a0006c0010t0002	a0003c0004t0002g0105 a0003c0004t0002g0106 a0003c0004t0002g0107 others(6): Show a0003c0004t0002g0105 a0003c0004t0002g0106 a0003c0004t0002g0107 a0003c0004t0002g0108 a0003c0004t0002g0109 a0003c0004t0002g0110 a0003c0004t0002g0111 a0003c0004t0002g0118 a0006c0010t0002g0112	9	186	0.0484	23	c.90+ others(38): Show c.90+1534_90+1535insAAAAAAAAAAAAAAAAAAAAAAA	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	2/23			chr3	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0006 a0007c0008t0006	a0007c0008t0006g0088 a0007c0008t0006g0088	1	147	0.0068	23	c.720 others(40): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55857399	A A	AAGAGAAG others(16): Show AAGAGAAGAGAAGAGAAAGAAGAG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	388	0.0026	23	c.54+ others(38): Show c.54+4521_54+4543dupCTCTTCTTTCTCTTCTCTTCTCT	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	2/9			chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241344878	T T	TGACATGG others(16): Show TGACATGGTGAAACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02630.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0273 a0001c0001t0019g0274 a0001c0001t0019g0273 a0001c0001t0019g0274	2	406	0.0049	23	c.842 others(40): Show c.842+1005_842+1027dupGACATGGTGAAACCAGCCTGGCC	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN5_chr22_19709503_19728319	19712694	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	22	0.0455	23	c.-18 others(34): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTT	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		1808		chr22	TogoVar
SEPTIN7_chr7_35796057_35912110	35829128	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	131	0.0076	23	c.62- others(38): Show c.62-2362_62-2340dupTTTTTTTTTTTTTTTTTTTTTTT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERAC1_chr6_158104519_158173262	158169480	A A	ATATAATA others(16): Show ATATAATATACTGTATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02451.hp1 others(12): Show HG01243.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0252 a0001c0002t0003g0253 others(11): Show a0001c0002t0003g0024 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0299 a0001c0002t0003g0312	15	364	0.0412	23	c.-13 others(34): Show c.-1343_-1342insCATATAATATACAGTATATTATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1219		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TAATATAT others(16): Show TAATATATTGTATATTGTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02451.hp1 others(11): Show HG01243.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0003 a0002c0006t0003 a0002c0006t0017 a0001c0002t0003 a0002c0006t0003 a0002c0006t0017	a0001c0002t0003g0024 a0001c0002t0003g0252 a0001c0002t0003g0253 others(10): Show a0001c0002t0003g0024 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0002c0006t0003g0250 a0002c0006t0003g0251 a0002c0006t0017g0256	14	248	0.0565	23	c.-16 others(34): Show c.-1608_-1607insTAATATACAATATACAATATATT	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG02074.hp1 others(9): Show HG00423.hp2 HG00544.hp2 HG02074.hp1 HG02083.hp1 HG03942.hp1 NA18944.hp1 NA18949.hp1 NA18953.hp1 NA18984.hp1 NA19010.hp1 NA19060.hp2 NA19067.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0004c0004t0001	a0002c0002t0001g0014 a0002c0002t0001g0037 a0002c0002t0001g0230 others(7): Show a0002c0002t0001g0014 a0002c0002t0001g0037 a0002c0002t0001g0230 a0002c0002t0001g0235 a0002c0002t0001g0250 a0002c0002t0001g0325 a0002c0002t0002g0217 a0002c0002t0004g0014 a0004c0004t0001g0299 a0004c0004t0001g0300	12	131	0.0916	23	c.533 others(38): Show c.533+777_533+799dupAAAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19003.hp1 NA18981.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0001 a0001c0003t0004 a0002c0002t0001	a0001c0003t0004g0259 a0002c0002t0001g0300 a0001c0003t0004g0259 a0002c0002t0001g0300	2	39	0.0513	23	c.39+ others(38): Show c.39+1117_39+1118insGTGTGTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERP2_chr13_44368824_44402714	44392196	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	20	0.0500	23	c.158 others(40): Show c.158-5059_158-5058insAAAAAAAAAAAAAAAAAAAAAAA	SERP2	ENSG00000151778.11	transcript	ENST00000379179.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr13	TogoVar
SERPINA5_chr14_94576426_94598118	94591559	A A	ATTCTATT others(16): Show ATTCTATTCTATTCTATTCTATTC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0206 a0002c0002t0004g0206	1	443	0.0023	23	c.103 others(40): Show c.1039-496_1039-474dupTCTATTCTATTCTATTCTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINB4_chr18_63632259_63649256	63633544	A A	AAAGGCCT others(16): Show AAAGGCCTGTACACCGAAAATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01109.hp1 others(14): Show HG00099.hp2 HG00735.hp2 HG01109.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02970.hp1 HG02976.hp1 HG03225.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0004 a0002c0002t0001g0010	17	422	0.0403	23	c.41 others(34): Show c.4174_*4175insATAATTTTCGGTGTACAGGCCTT	SERPINB4	ENSG00000206073.11	transcript	ENST00000341074.10	protein_coding		3714		chr18	TogoVar
SERPINB5_chr18_63471958_63510085	63497499	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0148 a0007c0012t0001g0148	1	132	0.0076	23	c.568 others(40): Show c.568-1606_568-1605insAAAAAAAAAAAAAAAAAAAAAAA	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	171	0.0058	23	c.889 others(38): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAAAA	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINE1_chr7_101122104_101144247	101136404	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	238	0.0042	23	c.108 others(40): Show c.1088-595_1088-594insGAAAGAAAGAAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SESTD1_chr2_179096678_179269832	179223145	G G	GGATAAAC others(16): Show GGATAAACTTAGAAAACATACTAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	272	0.0037	23	c.-25 others(42): Show c.-25-31302_-25-31280dupTTAGTATGTTTTCTAAGTTTATC	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44787860	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0052 a0003c0003t0017g0052	1	6	0.1667	23	c.487 others(42): Show c.487-81350_487-81349insAAAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03710.hp1 NA18964.hp1 HG02165.hp1 HG03710.hp1 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0002g0010 a0002c0002t0001g0012 a0002c0002t0002g0044 a0001c0001t0002g0010 a0002c0002t0001g0012 a0002c0002t0002g0044	3	80	0.0375	23	c.540 others(42): Show c.540+16573_540+16574insAAAAAAAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGGGGTGG others(16): Show GGGGGTGGGGGGGGTGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	157	0.0064	23	c.-45 others(34): Show c.-4521_-4520insGGGGTGGGGGGGGTGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121834987	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	110	0.0091	23	c.47 others(34): Show c.4748_*4749insTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2332		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121835028	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02976.hp2 others(1): Show HG01257.hp2 HG01258.hp2 HG02976.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0012 a0001c0005t0005g0026 a0001c0005t0005g0012 a0001c0005t0005g0026	4	242	0.0165	23	c.47 others(34): Show c.4789_*4790insTTCTTTCTTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2373		chr12	TogoVar
SETD2_chr3_47011436_47169113	47044344	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	21	0.0476	23	c.709 others(42): Show c.7099-1667_7099-1645dupTTTTTTTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47058440	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0139 a0004c0004t0001g0139	1	104	0.0096	23	c.629 others(40): Show c.6294-973_6294-951dupTTTTTTTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	14/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18957.hp1 NA18970.hp2 others(1): Show HG02083.hp2 NA18957.hp1 NA18970.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0065 a0001c0001t0001g0092 a0001c0001t0001g0098	4	28	0.1429	23	c.676 others(40): Show c.676-9677_676-9655dupTTTTTTTTTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD4_chr21_36029541_36065526	36031801	A A	ATGTGTGT others(16): Show ATGTGTGTGTGTGGGGGACACTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	258	0.0039	23	c.41 others(34): Show c.4191_*4192insCCAGTGTCCCCCACACACACACA	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		2739		chr21	TogoVar
SETD5_chr3_9392615_9483154	9425055	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02055.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0004 a0001c0001t0031	a0001c0001t0004g0236 a0001c0001t0031g0235 a0001c0001t0004g0236 a0001c0001t0031g0235	2	119	0.0168	23	c.-11 others(40): Show c.-117+530_-117+552dupTTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETDB1_chr1_150921363_150969737	150933368	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0019 a0001c0021t0001g0019	1	185	0.0054	23	c.412 others(40): Show c.412+3267_412+3268insTTTTTTTTTTTTTTTTTTTTTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEZ6L_chr22_26164462_26388596	26343371	G G	GGTTAACC others(16): Show GGTTAACCAGAAAGGCTGGTCAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	238	0.0042	23	c.221 others(42): Show c.2212+2752_2212+2753insGCTGGTCAAAGTTAACCAGAAAG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGGAGGAA others(16): Show GGGAGGAAAGAAAGAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0090 a0001c0006t0004g0090	1	144	0.0069	23	c.240 others(40): Show c.2407+653_2407+654insGAGGAAAGAAAGAAGAAAGAAAG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00642.hp1 others(24): Show HG00621.hp2 HG00639.hp2 HG00642.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01993.hp2 HG02040.hp2 HG02129.hp1 HG02273.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp1 HG03491.hp1 HG03540.hp2 HG03710.hp1 NA18982.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19060.hp1 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0010 a0007c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0025 a0001c0003t0002 a0001c0003t0003 a0001c0003t0010 a0001c0003t0027 a0001c0009t0003 a0001c0010t0002 a0007c0019t0003	a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0002g0130 others(23): Show a0001c0001t0002g0057 a0001c0001t0002g0085 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0003g0033 a0001c0001t0003g0048 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0214 a0001c0001t0003g0221 a0001c0001t0005g0132 a0001c0001t0005g0200 a0001c0001t0011g0081 a0001c0001t0025g0237 a0001c0003t0002g0001 a0001c0003t0002g0041 a0001c0003t0002g0051 a0001c0003t0003g0052 a0001c0003t0010g0025 a0001c0003t0027g0156 a0001c0009t0003g0112 a0001c0010t0002g0238 a0001c0010t0002g0239 a0007c0019t0003g0079	27	111	0.2432	23	c.279 others(42): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369354	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0049 a0003c0004t0007g0049	1	231	0.0043	23	c.279 others(42): Show c.2794+3791_2794+3792insTTTTTTTTTTTTTTTTTTTATTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A2_chr19_2231824_2253655	2244209	A A	ACGGCTCC others(16): Show ACGGCTCCCTGCCTCGGGAGTGAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02895.hp1 others(5): Show HG01884.hp2 HG01891.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0137 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0065 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0184 a0003c0004t0001g0185	8	418	0.0191	23	c.127 others(38): Show c.127-330_127-308dupTCCCTGCCTCGGGAGTGACCGGC	SF3A2	ENSG00000104897.10	transcript	ENST00000221494.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03579.hp1 NA18957.hp1 others(3): Show HG02165.hp2 HG03579.hp1 NA18957.hp1 NA18982.hp1 NA19007.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0036 a0001c0001t0003g0148 a0001c0001t0003g0213 others(3): Show a0001c0001t0002g0036 a0001c0001t0003g0148 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0004g0318 a0001c0001t0007g0301	6	7	0.8571	23	c.468 others(38): Show c.468+582_468+583insTTTTTTTTTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01081.hp1 HG01099.hp2 others(7): Show HG00733.hp1 HG01081.hp1 HG01099.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp1 HG02040.hp1 HG03130.hp2 NA19056.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0001t0001 a0001c0001t0004 a0001c0002t0002	a0001c0001t0001g0048 a0001c0001t0001g0249 a0001c0001t0001g0290 others(7): Show a0001c0001t0001g0048 a0001c0001t0001g0249 a0001c0001t0001g0290 a0001c0001t0004g0055 a0001c0002t0002g0090 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0153 a0001c0002t0002g0270	10	21	0.4762	23	c.495 others(38): Show c.495+252_495+274dupTTTTTTTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18946.hp1 HG03704.hp2 NA18946.hp1	a0002 a0018 a0002 a0018	a0002c0002 a0018c0014 a0002c0002 a0018c0014	a0002c0002t0001 a0018c0014t0001 a0002c0002t0001 a0018c0014t0001	a0002c0002t0001g0121 a0018c0014t0001g0097 a0002c0002t0001g0121 a0018c0014t0001g0097	2	78	0.0256	23	c.124 others(42): Show c.1249-1638_1249-1637insATATATATATATATATATATTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	77	0.0130	23	c.124 others(42): Show c.1249-1638_1249-1637insATATATATATATATATATTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar

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