Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SCNN1A_chr12_6341847_6380563	6369294	TCACCTCC others(16): Show TCACCTCCCTCCTGCCACCCTACG	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp2 HG01074.hp2 others(9): Show HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG03139.hp2 NA18943.hp2 NA18944.hp2 NA18971.hp2 NA18982.hp1 NA19063.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0015	a0001c0001 a0001c0029 a0002c0002 others(4): Show a0001c0001 a0001c0029 a0002c0002 a0003c0003 a0005c0007 a0008c0015 a0015c0027	a0001c0001t0001 a0001c0001t0002 a0001c0029t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0029t0001 a0002c0002t0001 a0003c0003t0001 a0005c0007t0001 a0008c0015t0017 a0015c0027t0001	a0001c0001t0001g0290 a0001c0001t0001g0377 a0001c0001t0002g0001 others(9): Show a0001c0001t0001g0290 a0001c0001t0001g0377 a0001c0001t0002g0001 a0001c0029t0001g0112 a0002c0002t0001g0017 a0002c0002t0001g0286 a0002c0002t0001g0394 a0003c0003t0001g0411 a0005c0007t0001g0200 a0005c0007t0001g0201 a0008c0015t0017g0368 a0015c0027t0001g0114	12	403	0.0298	-23	c.416 others(40): Show c.416+5051_416+5073delCGTAGGGTGGCAGGAGGGAGGTG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6369342	ACCTCCCT others(16): Show ACCTCCCTCCTGCCACCCTACGCG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG01081.hp2 others(63): Show HG00544.hp2 HG00735.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01496.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02735.hp1 HG02895.hp1 HG03017.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19055.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0011 a0002c0028 a0003c0003 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0019 a0002c0002t0001 a0002c0002t0018 a0002c0011t0001 a0002c0028t0003 a0003c0003t0001 a0003c0003t0002 a0004c0014t0003	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 others(54): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0153 a0001c0001t0001g0183 a0001c0001t0001g0285 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0358 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0376 a0001c0001t0001g0378 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0389 a0001c0001t0001g0401 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0068 a0001c0001t0002g0079 a0001c0006t0001g0113 a0001c0006t0001g0125 a0001c0006t0019g0126 a0002c0002t0001g0004 a0002c0002t0001g0015 a0002c0002t0001g0141 a0002c0002t0001g0149 a0002c0002t0001g0193 a0002c0002t0001g0206 a0002c0002t0001g0316 a0002c0002t0001g0324 a0002c0002t0001g0327 a0002c0002t0001g0385 a0002c0002t0001g0388 a0002c0002t0018g0370 a0002c0011t0001g0122 a0002c0011t0001g0123 a0002c0011t0001g0124 a0002c0028t0003g0127 a0003c0003t0001g0006 a0003c0003t0001g0020 a0003c0003t0001g0185 a0003c0003t0001g0204 a0003c0003t0001g0281 a0003c0003t0001g0306 a0003c0003t0001g0342 a0003c0003t0002g0069 a0004c0014t0003g0110 a0004c0014t0003g0128 a0004c0014t0003g0131	66	452	0.1460	-23	c.416 others(40): Show c.416+5003_416+5025delCGCGTAGGGTGGCAGGAGGGAGG	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	2/12			chr12	TogoVar
SCNN1B_chr16_23297302_23386294	23305524	AATATATA others(16): Show AATATATATATTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	201	0.0050	-23	c.-9+ others(38): Show c.-9+3098_-9+3120delTATATATATATATATATATATAT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCT_chr11_621309_632181	628956	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-23	c.-18 others(34): Show c.-1836_-1814delGAAAGAAAGAAAGAAAGAAAGAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1776		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43280468	TCCCGTCC others(16): Show TCCCGTCCCTTCCCCTCACCCATC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01496.hp1 HG02615.hp2 others(4): Show HG00597.hp2 HG01496.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp2 NA18943.hp2 NA19003.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0002 a0002c0059 a0003c0001 others(2): Show a0002c0002 a0002c0059 a0003c0001 a0005c0016 a0007c0041	a0002c0002t0002 a0002c0059t0001 a0003c0001t0001 others(3): Show a0002c0002t0002 a0002c0059t0001 a0003c0001t0001 a0005c0016t0002 a0005c0016t0073 a0007c0041t0075	a0002c0002t0002g0263 a0002c0059t0001g0118 a0003c0001t0001g0201 others(4): Show a0002c0002t0002g0263 a0002c0059t0001g0118 a0003c0001t0001g0201 a0003c0001t0001g0210 a0005c0016t0002g0024 a0005c0016t0073g0130 a0007c0041t0075g0233	7	231	0.0303	-23	c.484 others(42): Show c.484+10555_484+10577delGATGGGTGAGGGGAAGGGACGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281016	CTTCTGTC others(16): Show CTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0080 a0001c0006t0080	a0001c0006t0080g0273 a0001c0006t0080g0273	1	270	0.0037	-23	c.484 others(42): Show c.484+10007_484+10029delTAGCTGAGGAGGAGATGACAGAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281134	CTTCTGTC others(16): Show CTTCTGTCATCTCCTCCTCAGCTA	C C	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0190 a0003c0007t0001g0190	1	278	0.0036	-23	c.484 others(40): Show c.484+9889_484+9911delTAGCTGAGGAGGAGATGACAGAA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281253	TTCTGTCA others(16): Show TTCTGTCATCTCCTCCTCAGCTAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0080 a0001c0006t0080	a0001c0006t0080g0273 a0001c0006t0080g0273	1	278	0.0036	-23	c.484 others(40): Show c.484+9770_484+9792delGTAGCTGAGGAGGAGATGACAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281327	TCCTGTCA others(16): Show TCCTGTCACCTCCTCCTCAGTCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18944.hp1 HG02886.hp1 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0013 a0002c0009t0024 a0002c0002t0013 a0002c0009t0024	a0002c0002t0013g0050 a0002c0009t0024g0259 a0002c0002t0013g0050 a0002c0009t0024g0259	2	278	0.0072	-23	c.484 others(40): Show c.484+9696_484+9718delGTGACTGAGGAGGAGGTGACAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281365	TGGCCACC others(16): Show TGGCCACCCTTCTGTCATCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0090 a0001c0012t0090	a0001c0012t0090g0277 a0001c0012t0090g0277	1	275	0.0036	-23	c.484 others(40): Show c.484+9658_484+9680delGAGGAGATGACAGAAGGGTGGCC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281536	TCAGTCAC others(16): Show TCAGTCACCCTCCTGTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03239.hp1 others(1): Show HG02055.hp2 HG02258.hp2 HG03239.hp1 NA19005.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0015 a0002c0002 a0006c0015	a0002c0002t0010 a0002c0002t0011 a0006c0015t0007 a0002c0002t0010 a0002c0002t0011 a0006c0015t0007	a0002c0002t0010g0112 a0002c0002t0011g0011 a0002c0002t0011g0012 others(1): Show a0002c0002t0010g0112 a0002c0002t0011g0011 a0002c0002t0011g0012 a0006c0015t0007g0069	4	267	0.0150	-23	c.484 others(40): Show c.484+9487_484+9509delGGGAGGTGACAGGAGGGTGACTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9096536	TGCCCCAT others(16): Show TGCCCCATCTCTAACTTCAGGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0010 a0003c0012t0010	a0003c0012t0010g0146 a0003c0012t0010g0146	1	356	0.0028	-23	c.-50 others(34): Show c.-5031_-5009delGAGCCTGAAGTTAGAGATGGGGC	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding		4938		chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35217230	GGGGGGGC others(16): Show GGGGGGGCGGGGGGGAGGCGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0175 a0001c0001t0006g0175	1	288	0.0035	-23	c.85+ others(38): Show c.85+2734_85+2756delCGGGGGGGAGGCGCGGCGGGGGG	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
SDK1_chr7_3296252_4274000	3718541	AAATAAAT others(16): Show AAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03516.hp1 HG02145.hp2 HG03516.hp1	a0001 a0027 a0001 a0027	a0001c0092 a0027c0089 a0001c0092 a0027c0089	a0001c0092t0048 a0027c0089t0047 a0001c0092t0048 a0027c0089t0047	a0001c0092t0048g0057 a0027c0089t0047g0056 a0001c0092t0048g0057 a0027c0089t0047g0056	2	116	0.0172	-23	c.713 others(42): Show c.713+76439_713+76461delTAAATAAATAAATAAATAAATAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG03225.hp2 others(1): Show HG02145.hp2 HG02451.hp2 HG03225.hp2 HG03516.hp1	a0001 a0019 a0027 a0001 a0019 a0027	a0001c0025 a0001c0092 a0019c0050 others(1): Show a0001c0025 a0001c0092 a0019c0050 a0027c0089	a0001c0025t0024 a0001c0092t0048 a0019c0050t0019 others(1): Show a0001c0025t0024 a0001c0092t0048 a0019c0050t0019 a0027c0089t0047	a0001c0025t0024g0089 a0001c0092t0048g0057 a0019c0050t0019g0092 others(1): Show a0001c0025t0024g0089 a0001c0092t0048g0057 a0019c0050t0019g0092 a0027c0089t0047g0056	4	8	0.5000	-23	c.242 others(40): Show c.2420+335_2420+357delTTTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4084709	ATGTTATG others(16): Show ATGTTATGTTATGTTATGTTATGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 NA20129.hp1 HG02145.hp2 HG02809.hp2 NA20129.hp1	a0001 a0001	a0001c0011 a0001c0037 a0001c0092 a0001c0011 a0001c0037 a0001c0092	a0001c0011t0008 a0001c0037t0002 a0001c0092t0048 a0001c0011t0008 a0001c0037t0002 a0001c0092t0048	a0001c0011t0008g0028 a0001c0037t0002g0077 a0001c0092t0048g0057 a0001c0011t0008g0028 a0001c0037t0002g0077 a0001c0092t0048g0057	3	116	0.0259	-23	c.332 others(42): Show c.3324+5131_3324+5153delTGTTATGTTATGTTATGTTGTTA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73505649	ATCAATAG others(16): Show ATCAATAGCTGGACCTCATCATCG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0016 a0001c0025t0016	a0001c0025t0016g0056 a0001c0025t0016g0056	1	202	0.0050	-23	c.224 others(40): Show c.224+1766_224+1788delCGATGATGAGGTCCAGCTATTGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02074.hp1 NA19030.hp1 HG00741.hp2 HG02074.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0290 a0001c0001t0001g0302 a0001c0001t0002g0027 a0001c0001t0001g0290 a0001c0001t0001g0302 a0001c0001t0002g0027	3	10	0.3000	-23	c.52- others(38): Show c.52-8972_52-8950delTTTTTTTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC14L5_chr16_4953330_5024157	5014676	AGATGGGA others(16): Show AGATGGGAGTGTGGGGAATTCGGT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0152 a0001c0003t0003g0152	1	374	0.0027	-23	c.198 others(40): Show c.1980-182_1980-160delGATGGGAGTGTGGGGAATTCGGT	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	15/15			chr16	TogoVar
SEC23A_chr14_39026919_39108235	39094424	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	357	0.0028	-23	c.222 others(40): Show c.222-1203_222-1181delAAAAATATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094426	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	344	0.0029	-23	c.222 others(40): Show c.222-1205_222-1183delAAAAAAATATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC31A_chr4_82813509_82896153	82837176	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	326	0.0031	-23	c.296 others(42): Show c.2968+4941_2968+4963delTATATATATATATATATATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SELENON_chr1_25795193_25823221	25805622	CCCCACAT others(16): Show CCCCACATACTATGATGATTATTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0009 a0001c0009t0009	a0001c0009t0009g0070 a0001c0009t0009g0071 a0001c0009t0009g0070 a0001c0009t0009g0071	2	390	0.0051	-23	c.537 others(38): Show c.537+354_537+376delTACTATGATGATTATTTCCCACA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENON_chr1_25795193_25823221	25805629	TACTATGA others(16): Show TACTATGATGATTATTTCCCACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02055.hp1 HG02145.hp1 others(7): Show HG01099.hp2 HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp1 HG02886.hp1 HG02896.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0008 a0001c0002t0026 a0001c0008t0007 a0001c0002t0008 a0001c0002t0026 a0001c0008t0007	a0001c0002t0008g0038 a0001c0002t0008g0115 a0001c0002t0026g0091 others(5): Show a0001c0002t0008g0038 a0001c0002t0008g0115 a0001c0002t0026g0091 a0001c0008t0007g0032 a0001c0008t0007g0097 a0001c0008t0007g0098 a0001c0008t0007g0099 a0001c0008t0007g0100	10	390	0.0256	-23	c.537 others(38): Show c.537+368_537+390delTTTCCCACACACTATGATGATTA	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SELENOV_chr19_39510139_39525675	39510557	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00423.hp1 others(103): Show HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG03041.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19059.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(61): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0002t0001g0004 a0001c0002t0001g0013 a0001c0002t0001g0017 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0134 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0003g0023 a0001c0002t0003g0036 a0001c0012t0001g0004	106	122	0.8689	-23	c.-46 others(34): Show c.-4655_-4633delTTTTTTTTTTTTTTTTTTTTTTT	SELENOV	ENSG00000186838.15	transcript	ENST00000335426.9	protein_coding		4581		chr19	TogoVar
SEMA3A_chr7_83950777_84199789	83965644	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03041.hp2 HG00639.hp1 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0155 a0001c0003t0006g0156 a0001c0003t0006g0155 a0001c0003t0006g0156	2	273	0.0073	-23	c.171 others(42): Show c.1718-2320_1718-2298delATATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965646	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0219 a0001c0003t0006g0219	1	267	0.0037	-23	c.171 others(42): Show c.1718-2322_1718-2300delAAATATATATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89438964	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01168.hp2 HG02615.hp1 others(1): Show HG01109.hp2 HG01168.hp2 HG02615.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0010 a0001c0003t0003 a0001c0007t0001 a0001c0001t0010 a0001c0003t0003 a0001c0007t0001	a0001c0001t0010g0165 a0001c0003t0003g0036 a0001c0007t0001g0168 others(1): Show a0001c0001t0010g0165 a0001c0003t0003g0036 a0001c0007t0001g0168 a0001c0007t0001g0169	4	29	0.1379	-23	c.-24 others(44): Show c.-244+16901_-244+16923delAAAAAAAAAAAAAAAAAAAAAAA	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	2/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89485792	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp2 others(17): Show HG00099.hp2 HG00140.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01346.hp1 HG01516.hp1 HG01943.hp1 HG02300.hp2 HG03139.hp1 HG03209.hp1 HG03490.hp1 HG03491.hp1 HG03579.hp1 HG04228.hp1 NA19240.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0031 a0001c0001t0032 a0001c0003t0001 a0001c0003t0015 a0002c0002t0001 a0003c0005t0015 a0004c0006t0006	a0001c0001t0001g0016 a0001c0001t0003g0011 a0001c0001t0003g0017 others(16): Show a0001c0001t0001g0016 a0001c0001t0003g0011 a0001c0001t0003g0017 a0001c0001t0006g0008 a0001c0001t0006g0010 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0018 a0001c0001t0031g0022 a0001c0001t0032g0019 a0001c0003t0001g0009 a0001c0003t0001g0012 a0001c0003t0001g0020 a0001c0003t0015g0077 a0002c0002t0001g0024 a0002c0002t0001g0085 a0003c0005t0015g0001 a0004c0006t0006g0021	20	368	0.0543	-23	c.-31 others(44): Show c.-310+12104_-310+12126delCTTTTTTTTTTTTTTTTTTTTTT	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA5A_chr5_9030033_9551075	9131636	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG01884.hp2 others(13): Show HG00140.hp2 HG00280.hp1 HG01884.hp2 HG02280.hp2 HG02818.hp1 HG02965.hp2 HG03225.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp1 NA18944.hp1 NA18964.hp2 NA18966.hp2 NA18989.hp1 NA18991.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0013	a0001c0001t0054 a0001c0004t0001 a0001c0004t0005 others(10): Show a0001c0001t0054 a0001c0004t0001 a0001c0004t0005 a0001c0004t0062 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0005t0042 a0001c0005t0048 a0001c0005t0052 a0001c0005t0065 a0001c0009t0002 a0001c0013t0036	a0001c0001t0054g0094 a0001c0004t0001g0020 a0001c0004t0001g0030 others(13): Show a0001c0001t0054g0094 a0001c0004t0001g0020 a0001c0004t0001g0030 a0001c0004t0001g0041 a0001c0004t0005g0044 a0001c0004t0005g0050 a0001c0004t0062g0114 a0001c0005t0001g0051 a0001c0005t0002g0115 a0001c0005t0007g0082 a0001c0005t0042g0070 a0001c0005t0048g0022 a0001c0005t0052g0097 a0001c0005t0065g0123 a0001c0009t0002g0113 a0001c0013t0036g0008	16	132	0.1212	-23	c.159 others(42): Show c.1599+4845_1599+4867delGTTTTTTTTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9207892	GATAGATA others(16): Show GATAGATACATAGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG02976.hp1 others(3): Show HG00741.hp2 HG02280.hp2 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0013 others(1): Show a0001c0001 a0001c0005 a0001c0013 a0001c0022	a0001c0001t0001 a0001c0001t0064 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0064 a0001c0005t0001 a0001c0013t0036 a0001c0022t0055	a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0064g0127 others(3): Show a0001c0001t0001g0018 a0001c0001t0001g0076 a0001c0001t0064g0127 a0001c0005t0001g0005 a0001c0013t0036g0008 a0001c0022t0055g0081	6	130	0.0462	-23	c.647 others(40): Show c.647-5675_647-5653delTATCTATCTATCTATGTATCTAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22			chr5	TogoVar
SENP6_chr6_75596880_75723281	75638614	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	342	0.0029	-23	c.459 others(40): Show c.459-2068_459-2046delATATATATTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP7_chr3_101319205_101518212	101387946	ACTGTCTG others(16): Show ACTGTCTGGGAGCCTAGGCATAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(59): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01515.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 HG04228.hp2 NA18944.hp2 NA18945.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18983.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19057.hp1 NA19058.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0009t0002 a0001c0003t0002 a0001c0009t0002	a0001c0003t0002g0023 a0001c0003t0002g0120 a0001c0003t0002g0121 others(59): Show a0001c0003t0002g0023 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0284 a0001c0009t0002g0144 a0001c0009t0002g0145 a0001c0009t0002g0163	62	368	0.1685	-23	c.677 others(42): Show c.677+10892_677+10914delCCTATGCCTAGGCTCCCAGACAG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	6/23			chr3	TogoVar
SEPTIN10_chr2_109537799_109618966	109556519	GAACAGAT others(16): Show GAACAGATCCTAAACACTTGCAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18949.hp2 HG00621.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0268 a0001c0001t0001g0269	2	402	0.0050	-23	c.102 others(42): Show c.1029-3323_1029-3301delTCTGCAAGTGTTTAGGATCTGTT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	8/10			chr2	TogoVar
SEPTIN11_chr4_76944752_77043615	77024414	GGACCCAG others(16): Show GGACCCAGGCGTCTCCTTCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0100 a0001c0001t0014g0100	1	368	0.0027	-23	c.953 others(40): Show c.953+3750_953+3772delAGGCGTCTCCTTCCTCCAGACCC	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN14_chr7_55788540_55867752	55832541	GTATATAT others(16): Show GTATATATACACCATGGAATACTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(60): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01515.hp2 HG01928.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02258.hp1 HG02622.hp1 HG02717.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03130.hp1 HG03540.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0006c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0023 a0001c0001t0029 a0003c0003t0019 a0004c0004t0003 a0006c0010t0003	a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0037 others(58): Show a0001c0001t0002g0025 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0156 a0001c0001t0003g0249 a0001c0001t0007g0058 a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0001t0008g0050 a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0001t0008g0183 a0001c0001t0013g0022 a0001c0001t0013g0028 a0001c0001t0013g0032 a0001c0001t0013g0054 a0001c0001t0023g0035 a0001c0001t0023g0045 a0001c0001t0029g0030 a0003c0003t0019g0006 a0003c0003t0019g0007 a0003c0003t0019g0008 a0004c0004t0003g0053 a0004c0004t0003g0070 a0006c0010t0003g0069	63	388	0.1624	-23	c.720 others(40): Show c.720+1861_720+1883delTAGTATTCCATGGTGTATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35838340	CCCTCCCT others(16): Show CCCTCCCTCCCTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	344	0.0029	-23	c.169 others(40): Show c.169+5466_169+5488delTCCCTCCCTCCCTCCCTCCCTCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77454023	GTTTAGGG others(16): Show GTTTAGGGCTTCCGCCCTCTCTCC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	148	0.0068	-23	c.722 others(42): Show c.722-28120_722-28098delTTTAGGGCTTCCGCCCTCTCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	3/11			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77454023	GTTTAGGG others(16): Show GTTTAGGGCTTCCGCCCTCTCTCC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	156	0.0064	-23	c.668 others(42): Show c.668-28120_668-28098delTTTAGGGCTTCCGCCCTCTCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	2/10			chr17	TogoVar
SERPINB7_chr18_63770418_63810370	63785912	CACATATA others(16): Show CACATATATAATATACGTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(120): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp2 HG01123.hp2 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18982.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0003 a0005c0007 others(1): Show a0001c0001 a0001c0003 a0005c0007 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0003t0005 a0005c0007t0002 a0008c0009t0002	a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0016 others(89): Show a0001c0001t0002g0002 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0068 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0259 a0001c0001t0002g0280 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0154 a0001c0001t0003g0217 a0001c0001t0003g0232 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0070 a0001c0001t0007g0006 a0001c0001t0007g0069 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0083 a0001c0001t0009g0021 a0001c0001t0009g0301 a0001c0001t0011g0215 a0001c0001t0014g0300 a0001c0001t0018g0002 a0001c0001t0020g0139 a0001c0001t0022g0035 a0001c0003t0005g0307 a0005c0007t0002g0037 a0005c0007t0002g0126 a0008c0009t0002g0017	123	425	0.2894	-23	c.168 others(40): Show c.168+3376_168+3398delTATATAATATACGTATATATACA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101143527	GAGAAAGA others(16): Show GAGAAAGAAAGAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01243.hp1 HG02080.hp1 others(13): Show HG00408.hp1 HG01243.hp1 HG02080.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG03130.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp2 NA18989.hp2 NA18992.hp1 NA19055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0035 a0003c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0043 others(12): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0002g0204 a0001c0001t0002g0230 a0001c0001t0002g0243 a0001c0001t0003g0308 a0001c0001t0012g0045 a0001c0001t0035g0044 a0003c0002t0002g0019 a0003c0002t0002g0047 a0003c0002t0002g0277 a0003c0002t0002g0278	16	293	0.0546	-23	c.60 others(34): Show c.6086_*6108delAGAAAGAAAGAAGAAAGAAAGAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		4281		chr7	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0128 a0002c0002t0019g0128	1	38	0.0263	-23	c.486 others(40): Show c.486+1540_486+1562delTTTTTTTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44989885	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp1 HG02486.hp1 others(6): Show HG01167.hp2 HG01496.hp1 HG02486.hp1 HG02615.hp2 HG02895.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0003 a0001c0001t0001 a0001c0001t0002 a0001c0012t0003	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0067 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0002g0026 a0001c0012t0003g0069	9	138	0.0652	-23	c.400 others(44): Show c.4000+36546_4000+36568delAAAAAAAAAAAAAAAAAAAAAAT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5			chr18	TogoVar
SETD1A_chr16_30952754_30989664	30958355	GTGGCCGG others(16): Show GTGGCCGGGCTCGGCCCGGGCCGC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0058 a0001c0001t0002g0059	2	272	0.0074	-23	c.-15 others(38): Show c.-15-354_-15-332delGCTCGGCCCGGGCCGCTGGCCGG	SETD1A	ENSG00000099381.20	transcript	ENST00000262519.14	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD5_chr3_9392615_9483154	9426212	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp2 HG02258.hp2 others(24): Show HG01081.hp2 HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0031 a0001c0001t0044 a0001c0001t0045	a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0117 others(24): Show a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0119 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0166 a0001c0001t0004g0176 a0001c0001t0004g0236 a0001c0001t0007g0112 a0001c0001t0007g0116 a0001c0001t0007g0121 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0007g0233 a0001c0001t0010g0234 a0001c0001t0015g0118 a0001c0001t0015g0120 a0001c0001t0015g0165 a0001c0001t0031g0235 a0001c0001t0044g0178 a0001c0001t0045g0161	27	42	0.6429	-23	c.-11 others(42): Show c.-117+1687_-117+1709delCTTTTTTTTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22			chr3	TogoVar
SETD7_chr4_139501038_139561219	139545959	ATGGTCAC others(16): Show ATGGTCACTCTTTGCTCCTGAAGC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0261 a0001c0001t0016g0261	1	314	0.0032	-23	c.170 others(38): Show c.170+938_170+960delGCTTCAGGAGCAAAGAGTGACCA	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SETD7_chr4_139501038_139561219	139558692	TGCGGGGT others(16): Show TGCGGGGTCAAACTACAGAGAACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	314	0.0032	-23	c.-25 others(34): Show c.-2578_-2556delGGTTCTCTGTAGTTTGACCCCGC	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding		2474		chr4	TogoVar
SETX_chr9_132256356_132359986	132278437	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0034 a0034	a0034c0051 a0034c0051	a0034c0051t0023 a0034c0051t0023	a0034c0051t0023g0219 a0034c0051t0023g0219	1	14	0.0714	-23	c.665 others(40): Show c.6655-203_6655-181delAAAAAAAAAAAAAAAAAAAAAAA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	20/25			chr9	TogoVar
SETX_chr9_132256356_132359986	132302660	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAGCAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0157 a0010c0011t0001g0157	1	248	0.0040	-23	c.537 others(42): Show c.5375-1880_5375-1858delTTGCTTTTTTTTTTTTTTTTTTT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	11/25			chr9	TogoVar
SFMBT2_chr10_7153624_7416034	7393011	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02486.hp1 others(17): Show HG01081.hp1 HG01884.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0003t0006 a0001c0006t0006 a0001c0010t0028	a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0002g0007 others(17): Show a0001c0001t0001g0012 a0001c0001t0001g0072 a0001c0001t0002g0007 a0001c0001t0005g0027 a0001c0001t0007g0002 a0001c0001t0007g0017 a0001c0001t0010g0003 a0001c0001t0013g0008 a0001c0001t0013g0116 a0001c0001t0037g0019 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0002g0016 a0001c0002t0011g0015 a0001c0003t0006g0005 a0001c0003t0006g0006 a0001c0003t0006g0014 a0001c0003t0006g0018 a0001c0006t0006g0013 a0001c0010t0028g0026	20	142	0.1408	-23	c.-51 others(42): Show c.-51-11085_-51-11063delATATATATATATATATATATATA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20			chr10	TogoVar

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