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
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA19080.hp2 HG03453.hp2 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0005 a0001c0003t0002 a0001c0003t0005	a0001c0003t0002g0003 a0001c0003t0005g0014 a0001c0003t0002g0003 a0001c0003t0005g0014	2	408	0.0049	24	c.-42 others(35): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAAAAAAA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding		3977		chr17	TogoVar
EVX1_chr7_27237802_27252830	27252583	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01106.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0002 a0001c0001t0001g0001 a0001c0001t0005g0002	2	398	0.0050	24	c.61 others(35): Show c.6158_*6159insGTGTGTGTGTGTGTGTGTGTGTGT	EVX1	ENSG00000106038.13	transcript	ENST00000496902.7	protein_coding		4754		chr7	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTGTT others(17): Show GTTTTGTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	430	0.0023	24	c.-64 others(33): Show c.-646_-645insAAAAAAAAAAAAAAAAAAACAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03688.hp2 HG03942.hp1 HG03098.hp2 HG03688.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0009 a0001c0003t0005 a0001c0002t0009 a0001c0003t0005	a0001c0002t0009g0015 a0001c0003t0005g0026 a0001c0002t0009g0015 a0001c0003t0005g0026	3	430	0.0070	24	c.-64 others(33): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAAAA	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG01891.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0005 a0001c0002t0001 a0001c0003t0005	a0001c0002t0001g0002 a0001c0003t0005g0008 a0001c0002t0001g0002 a0001c0003t0005g0008	2	430	0.0047	24	c.-95 others(33): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCTCT	EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding		772		chr2	TogoVar
EXD1_chr15_41177728_41235757	41179536	A A	AAAGAAAG others(17): Show AAAGAAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0009 a0012c0015t0009	a0012c0015t0009g0188 a0012c0015t0009g0188	1	318	0.0031	24	c.43 others(35): Show c.4394_*4395insCCTTCCTTCCTTCCTTCCTTTCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD1_chr15_41177728_41235757	41179536	A A	AAAGGAAA others(17): Show AAAGGAAAGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 NA18522.hp2 HG02622.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0203 a0001c0002t0001g0204	2	318	0.0063	24	c.43 others(35): Show c.4394_*4395insCCTTCCTTCCTTCCTTCTTTCCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD1_chr15_41177728_41235757	41179536	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00544.hp2 others(85): Show HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04199.hp1 HG04228.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18956.hp2 NA18957.hp2 NA18961.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA19011.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp1 NA19088.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0001c0006 a0001c0008 others(3): Show a0001c0002 a0001c0006 a0001c0008 a0001c0012 a0005c0016 a0006c0009	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(6): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 a0001c0006t0001 a0001c0008t0001 a0001c0012t0001 a0005c0016t0001 a0006c0009t0001	a0001c0002t0001g0041 a0001c0002t0001g0112 a0001c0002t0001g0113 others(85): Show a0001c0002t0001g0041 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0197 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0228 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0299 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0002g0283 a0001c0002t0010g0211 a0001c0002t0012g0265 a0001c0006t0001g0249 a0001c0006t0001g0266 a0001c0008t0001g0300 a0001c0008t0001g0301 a0001c0012t0001g0071 a0005c0016t0001g0194 a0006c0009t0001g0195	88	318	0.2767	24	c.43 others(35): Show c.4394_*4395insCCTTCCTTCCTTCCTTCCTTCCTT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		3191		chr15	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03669.hp2 HG00280.hp2 HG03669.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0010 a0003c0003 a0011c0010	a0003c0003t0001 a0011c0010t0001 a0003c0003t0001 a0011c0010t0001	a0003c0003t0001g0068 a0011c0010t0001g0020 a0003c0003t0001g0068 a0011c0010t0001g0020	2	82	0.0244	24	c.199 others(43): Show c.1998+1809_1998+1832dupTTTTTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0039 a0008c0012t0001g0039	1	82	0.0122	24	c.-47 others(43): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTTTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21			chr9	TogoVar
EXO1_chr1_241843204_241894939	241869752	T T	TTCCTTCC others(17): Show TTCCTTCCTTCCTTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0013 a0013c0014t0013	a0013c0014t0013g0046 a0013c0014t0013g0046	1	416	0.0024	24	c.126 others(43): Show c.1268-2264_1268-2241dupCTCCCTCCCTCCTTCCTTCCTTCC	EXO1	ENSG00000174371.17	transcript	ENST00000366548.8	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
EXOC2_chr6_480154_698139	501121	A A	ATATATAT others(17): Show ATATATATTATATATATCTATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18969.hp1 NA18948.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0100 a0001c0001t0001g0102	2	272	0.0074	24	c.238 others(43): Show c.2381-1445_2381-1422dupATATATAGATATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501159	A A	ATATATAT others(17): Show ATATATATTATATATTATATATATC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0127 a0001c0013t0001g0127	1	272	0.0037	24	c.238 others(43): Show c.2381-1460_2381-1459insGATATATATAATATATAATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501443	A A	ATATATTA others(17): Show ATATATTATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG01081.hp1 others(4): Show HG00140.hp2 HG00609.hp1 HG01081.hp1 HG01952.hp2 HG02723.hp2 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0003t0007	a0001c0001t0001g0063 a0001c0001t0002g0174 a0001c0001t0002g0188 others(4): Show a0001c0001t0001g0063 a0001c0001t0002g0174 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0005g0195 a0001c0003t0002g0178 a0001c0003t0007g0157	7	272	0.0257	24	c.238 others(43): Show c.2381-1744_2381-1743insATATATATAGATATATATAATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501498	A A	ATATATTA others(17): Show ATATATTATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA19007.hp2 HG02965.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0199 a0001c0001t0006g0033 a0001c0001t0002g0199 a0001c0001t0006g0033	2	272	0.0074	24	c.238 others(43): Show c.2381-1799_2381-1798insATATATATAGATATATATAATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501533	T T	TATATATT others(17): Show TATATATTATATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0083 a0001c0001t0018g0083	1	272	0.0037	24	c.238 others(43): Show c.2381-1834_2381-1833insTATATATAGATATATATAATATAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501534	A A	ATATATTA others(17): Show ATATATTATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0162 a0001c0001t0002g0166	2	272	0.0074	24	c.238 others(43): Show c.2381-1835_2381-1834insATATATATAGATATATATAATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45245739	C C	CGGGGGGG others(17): Show CGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0326 a0003c0004t0007g0326	1	356	0.0028	24	c.-41 others(33): Show c.-416_-415insCCCCCCCCCCCCCCCCCCCCCCCC	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding		333		chr19	TogoVar
EXOC4_chr7_133248078_134070761	133823843	T T	TATTATAT others(17): Show TATTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	1	102	0.0098	24	c.173 others(43): Show c.1734+6299_1734+6300insATTATATATATATATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17			chr7	TogoVar
EXOC4_chr7_133248078_134070761	133941821	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG04184.hp2 NA19009.hp1 others(1): Show HG03516.hp1 HG04184.hp2 NA19009.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0014	a0001c0002t0002g0079 a0001c0003t0001g0006 a0001c0003t0002g0036 others(1): Show a0001c0002t0002g0079 a0001c0003t0001g0006 a0001c0003t0002g0036 a0001c0003t0014g0049	4	102	0.0392	24	c.220 others(43): Show c.2206+3759_2206+3782dupTCTCTCTCTCTCTCTCTCTCTCTC	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72307161	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp1 HG02486.hp1 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0008 a0001c0002t0002 a0002c0004t0008	a0001c0002t0002g0065 a0002c0004t0008g0002 a0001c0002t0002g0065 a0002c0004t0008g0002	2	104	0.0192	24	c.219 others(45): Show c.2196+27785_2196+27786insAAAAAAAAAAAAAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72397625	A A	AAAAAAAA others(17): Show AAAAAAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0004 a0002c0004t0008g0004	1	104	0.0096	24	c.198 others(45): Show c.1981-17756_1981-17755insATTTTATTTTATTTTATTTTTTTT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72697105	C C	CAGATATA others(17): Show CAGATATAGATATAGATATAGATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	104	0.0096	24	c.669 others(43): Show c.669+20974_669+20997dupATATCTATATCTATATCTATATCT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72700237	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	104	0.0096	24	c.669 others(43): Show c.669+17842_669+17865dupGTGTGTGTGTGTGTGTGTGTGTGT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72773120	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19030.hp1 HG02280.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0017 a0001c0002t0005 a0001c0002t0017	a0001c0002t0005g0075 a0001c0002t0017g0077 a0001c0002t0005g0075 a0001c0002t0017g0077	2	104	0.0192	24	c.114 others(43): Show c.114-31652_114-31651insAAAAAAAAAAAAAAAAAAAAAAAA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21			chr2	TogoVar
EXOC8_chr1_231327753_231342852	231341880	G G	GGAGCTCC others(17): Show GGAGCTCCTGAGCTAGCTGGTACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	388	0.0026	24	c.-41 others(35): Show c.-4136_-4135insTAGTACCAGCTAGCTCAGGAGCTC	EXOC8	ENSG00000116903.7	transcript	ENST00000366645.1	protein_coding		4029		chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11064537	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	284	0.0035	24	c.21 others(35): Show c.2180_*2181insTTTTTTTTTTTTTTTTTTTTTTTT	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding		2080		chr1	TogoVar
EXOSC10_chr1_11061618_11104869	11083562	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0210 a0001c0021t0001g0210	1	284	0.0035	24	c.109 others(41): Show c.1090-685_1090-684insTTTTTTTTTTTTTTTTTTTTTTTT	EXOSC10	ENSG00000171824.14	transcript	ENST00000376936.9	protein_coding	9/24			chr1	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	430	0.0023	24	c.-38 others(35): Show c.-3877_-3876insAAAAAAAAAAAAAAAAAAAAAAAA	EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding		3856		chr10	TogoVar
EXPH5_chr11_108500435_108598768	108597151	G G	GATCACAT others(17): Show GATCACATCACATCTTGCTTGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0041 a0002c0002t0007g0041	1	314	0.0032	24	c.-36 others(35): Show c.-3616_-3615insTGATCAAGCAAGATGTGATGTGAT	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding		3384		chr11	TogoVar
EXT1_chr8_117789490_118116826	117809209	G G	GTATAAAT others(17): Show GTATAAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02523.hp1 HG02280.hp2 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0066 a0001c0002t0042 a0001c0002t0066	a0001c0002t0042g0124 a0001c0002t0066g0179 a0001c0002t0042g0124 a0001c0002t0066g0179	2	190	0.0105	24	c.172 others(43): Show c.1723-1833_1723-1832insTATATATATATATATATATTTATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	8/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117809218	A A	AACATATA others(17): Show AACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG03041.hp2 others(1): Show HG01243.hp2 HG02145.hp2 HG03041.hp2 HG03139.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0015 a0001c0004t0060 a0001c0004t0013 a0001c0004t0015 a0001c0004t0060	a0001c0004t0013g0004 a0001c0004t0013g0005 a0001c0004t0015g0158 others(1): Show a0001c0004t0013g0004 a0001c0004t0013g0005 a0001c0004t0015g0158 a0001c0004t0060g0165	4	190	0.0211	24	c.172 others(43): Show c.1723-1842_1723-1841insATATATATATATATATATATATGT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	8/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117844137	C C	CTATTATT others(17): Show CTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0078 a0001c0001t0040g0078	1	190	0.0053	24	c.963 others(41): Show c.963-6960_963-6937dupATAATAATAATAATAATAATAATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858766	A A	AAGGCAGG others(17): Show AAGGCAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0135 a0001c0006t0001g0135	1	190	0.0053	24	c.963 others(43): Show c.963-21589_963-21566dupGCCTGCCTGCCTGCCTGCCTGCCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858810	C C	CAGGAAGG others(17): Show CAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	190	0.0053	24	c.963 others(43): Show c.963-21633_963-21610dupTCCTTCCTTCCTTCCTTCCTTCCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858844	G G	GGAAGGAA others(17): Show GGAAGGAAGGAAGGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0127 a0001c0001t0047g0127	1	190	0.0053	24	c.963 others(43): Show c.963-21644_963-21643insTTTCTTTCTTTCCTTCCTTCCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117867260	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0010 a0001c0002t0028g0010	1	190	0.0053	24	c.963 others(43): Show c.963-30060_963-30059insTTTTTTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117870823	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0086 a0001c0001t0019g0086	1	190	0.0053	24	c.963 others(43): Show c.963-33623_963-33622insTGTGTGTGTGTGTGTGTGTGTGAG	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01952.hp2 HG02165.hp1 others(2): Show HG00558.hp1 HG01952.hp2 HG02165.hp1 HG02165.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0051 a0001c0002t0002 others(2): Show a0001c0001t0005 a0001c0001t0051 a0001c0002t0002 a0001c0002t0022 a0001c0002t0045	a0001c0001t0005g0071 a0001c0001t0051g0134 a0001c0002t0002g0098 others(2): Show a0001c0001t0005g0071 a0001c0001t0051g0134 a0001c0002t0002g0098 a0001c0002t0022g0122 a0001c0002t0045g0064	5	190	0.0263	24	c.963 others(43): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTTTTTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117973930	C C	CAAGGAAG others(17): Show CAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02109.hp1 HG02615.hp2 others(4): Show HG01515.hp2 HG02109.hp1 HG02615.hp2 HG02622.hp1 HG02886.hp2 HG02965.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0005t0026	a0001c0001t0001g0066 a0001c0001t0006g0091 a0001c0001t0006g0094 others(4): Show a0001c0001t0001g0066 a0001c0001t0006g0091 a0001c0001t0006g0094 a0001c0001t0009g0159 a0001c0001t0012g0173 a0001c0001t0015g0093 a0001c0005t0026g0002	7	190	0.0368	24	c.962 others(45): Show c.962+136131_962+136154dupCCTTCCTTCCTTCCTTCCTTCCTT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117985004	A A	AAGGTCTT others(17): Show AAGGTCTTTCAGATGGCTGCTTAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0013 a0001c0007t0013	a0001c0007t0013g0014 a0001c0007t0013g0014	1	190	0.0053	24	c.962 others(45): Show c.962+125057_962+125080dupCTTAAGCAGCCATCTGAAAGACCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118019246	T T	TGAAAGAA others(17): Show TGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18948.hp1 HG04199.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0020 a0001c0001t0007g0142 a0001c0001t0001g0020 a0001c0001t0007g0142	2	190	0.0105	24	c.962 others(43): Show c.962+90815_962+90838dupTTTCTTTCTTTCTTTCTTTCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118073632	A A	AAGAAGAG others(17): Show AAGAAGAGAAGAGAAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0129 a0001c0002t0002g0129	1	190	0.0053	24	c.962 others(43): Show c.962+36452_962+36453insCTCTCTTCTCTTCTCTTCTCTTCT	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG03017.hp2 HG00639.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0010 a0001c0004t0001 a0001c0002t0010 a0001c0004t0001	a0001c0002t0010g0149 a0001c0004t0001g0101 a0001c0002t0010g0149 a0001c0004t0001g0101	2	190	0.0105	24	c.-26 others(35): Show c.-2650_-2649insTATATATATATATATATATATATA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTATAT others(17): Show CTCTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0148 a0001c0005t0010g0148	1	190	0.0053	24	c.-26 others(35): Show c.-2650_-2649insTATATATATATATATATATATAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0122 a0001c0002t0022g0122	1	190	0.0053	24	c.-26 others(35): Show c.-2650_-2649insTATATATATATATATAGAGAGAGA	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding		1870		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119124	T T	TTTTATAT others(17): Show TTTTATATATGTATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0238 a0002c0005t0019g0238	1	334	0.0030	24	c.743 others(41): Show c.743+4824_743+4825insTTATATATGTATATGTGTATATAT	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119139	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19004.hp2 NA19007.hp1 others(2): Show NA18999.hp2 NA19004.hp2 NA19007.hp1 NA19083.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0032 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0032 a0001c0001t0033	a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0008g0217 others(2): Show a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0008g0217 a0001c0001t0032g0231 a0001c0001t0033g0216	5	334	0.0150	24	c.743 others(41): Show c.743+4861_743+4862insCATATATATATATATATATATATA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0042 a0001c0002t0004g0042	1	334	0.0030	24	c.743 others(41): Show c.743+4869_743+4870insTATATATATATATATATACACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
EXT2_chr11_44090678_44256962	44119169	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01993.hp2 NA18973.hp1 others(5): Show HG00673.hp2 HG01993.hp2 NA18973.hp1 NA18992.hp1 NA18995.hp1 NA19004.hp1 NA19066.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0001c0002t0049	a0001c0001t0009g0003 a0001c0001t0009g0283 a0001c0002t0002g0019 others(4): Show a0001c0001t0009g0003 a0001c0001t0009g0283 a0001c0002t0002g0019 a0001c0002t0004g0044 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0049g0025	8	334	0.0240	24	c.743 others(41): Show c.743+4869_743+4870insTATATATATATATATATATACACA	EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr11	TogoVar

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