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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EVI5_chr1_92503696_92790108	92565948	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	168	0.0060	22	c.207 others(41): Show c.2071-2212_2071-2211insTTTTTTTTTTTTTTTTTTTTTT		EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	18/19						chr1	TogoVar
EVI5_chr1_92503696_92790108	92669547	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01106.hp2 others(14): Show HG00639.hp2 HG01071.hp2 HG01106.hp2 HG01168.hp2 HG01256.hp2 HG01261.hp1 HG01981.hp1 HG02145.hp2 HG02300.hp1 HG02717.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG04204.hp2 NA18970.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0001t0023 a0001c0001t0052	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 others(14): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0148 a0001c0001t0002g0062 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0117 a0001c0001t0019g0107 a0001c0001t0023g0054 a0001c0001t0052g0112	17	168	0.1012	22	c.115 others(41): Show c.1159-3556_1159-3555insTTTTTTTTTTTTTTTTTTTTTT		EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	10/19						chr1	TogoVar
EVPLL_chr17_18372778_18394647	18373800	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01952.hp2 HG03139.hp1 others(3): Show HG01167.hp2 HG01952.hp2 HG03139.hp1 HG03831.hp2 NA18979.hp1 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0036 a0001c0003t0002g0003 a0001c0003t0002g0005 a0001c0003t0002g0036	6	408	0.0147	22	c.-42 others(33): Show c.-4220_-4219insAAAAAAAAAAAAAAAAAAAAAA		EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding					3977		chr17	TogoVar
EVPLL_chr17_18372778_18394647	18388030	A A	ATATATAT others(15): Show ATATATATATATACACATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01070.hp2 others(27): Show HG00639.hp2 HG00741.hp2 HG01070.hp2 HG01243.hp2 HG01346.hp2 HG02004.hp2 HG02280.hp1 HG02451.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03486.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp2 HG04228.hp2 NA19030.hp1 NA19043.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0002g0013 others(7): Show a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0022 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0088	30	408	0.0735	22	c.877 others(37): Show c.877-175_877-174insCATATATGTATATATATATACA		EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EVPLL_chr17_18372778_18394647	18388038	A A	ATATATAT others(15): Show ATATATATACATATATATATATG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0108 a0001c0003t0005g0108	1	408	0.0025	22	c.877 others(37): Show c.877-177_877-176insTATACATATATATATATGTATA		EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
EVX1_chr7_27237802_27252830	27252583	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp1 others(2): Show HG00741.hp2 HG01167.hp1 HG01169.hp1 NA18952.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0002 a0001c0001t0001g0001 a0001c0001t0005g0002	5	398	0.0126	22	c.61 others(33): Show c.6158_*6159insGTGTGTGTGTGTGTGTGTGTGT		EVX1	ENSG00000106038.13	transcript	ENST00000496902.7	protein_coding					4754		chr7	TogoVar
EVX2_chr2_176072472_176088962	176084420	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	430	0.0023	22	c.-64 others(31): Show c.-645_-644insAAAAAAAAAAAAAAAAAAAAAA		EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding					459		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084421	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG02622.hp1 HG00735.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0024 a0001c0002t0001 a0001c0004t0024	a0001c0002t0001g0002 a0001c0004t0024g0071 a0001c0002t0001g0002 a0001c0004t0024g0071	2	430	0.0047	22	c.-64 others(31): Show c.-646_-645insAAAAAAAAAAAAAAAAAAAAAA		EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding					460		chr2	TogoVar
EVX2_chr2_176072472_176088962	176084733	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02922.hp2 HG03139.hp2 others(1): Show HG02723.hp1 HG02922.hp2 HG03139.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0016 a0001c0003t0005 a0001c0018t0008 a0001c0001t0016 a0001c0003t0005 a0001c0018t0008	a0001c0001t0016g0024 a0001c0003t0005g0008 a0001c0018t0008g0042 a0001c0001t0016g0024 a0001c0003t0005g0008 a0001c0018t0008g0042	4	430	0.0093	22	c.-95 others(31): Show c.-958_-957insCTCTCTCTCTCTCTCTCTCTCT		EVX2	ENSG00000174279.5	transcript	ENST00000308618.5	protein_coding					772		chr2	TogoVar
EWSR1_chr22_29263268_29305521	29303764	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	390	0.0026	22	c.36 others(33): Show c.3603_*3604insGTGTGTGTGTGTGTGTGTGTGT		EWSR1	ENSG00000182944.18	transcript	ENST00000397938.7	protein_coding					3244		chr22	TogoVar
EXD2_chr14_69186498_69249018	69220253	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	234	0.0043	22	c.334 others(39): Show c.334-8549_334-8528dupTTTTTTTTTTTTTTTTTTTTTT		EXD2	ENSG00000081177.19	transcript	ENST00000685843.1	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
EXD3_chr9_137301896_137428162	137329294	A A	ACGGGGCT others(15): Show ACGGGGCTACACGGGAGCTACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0001 a0018c0014t0001	a0018c0014t0001g0072 a0018c0014t0001g0072	1	82	0.0122	22	c.199 others(41): Show c.1999-5152_1999-5151insGTGTAGCTCCCGTGTAGCCCCG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137330125	A A	AGGAGGTA others(15): Show AGGAGGTACACAGGAGCTACACC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0005 a0008c0019t0001g0005	1	82	0.0122	22	c.199 others(41): Show c.1999-5983_1999-5982insGGTGTAGCTCCTGTGTACCTCC		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137346238	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02004.hp2 NA18747.hp2 HG00099.hp2 HG02004.hp2 NA18747.hp2	a0003 a0011 a0021 a0003 a0011 a0021	a0003c0003 a0011c0010 a0021c0033 a0003c0003 a0011c0010 a0021c0033	a0003c0003t0001 a0011c0010t0001 a0021c0033t0001 a0003c0003t0001 a0011c0010t0001 a0021c0033t0001	a0003c0003t0001g0025 a0011c0010t0001g0055 a0021c0033t0001g0054 a0003c0003t0001g0025 a0011c0010t0001g0055 a0021c0033t0001g0054	3	82	0.0366	22	c.199 others(41): Show c.1998+1811_1998+1832dupTTTTTTTTTTTTTTTTTTTTTT		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137381295	A A	AATCCCAG others(15): Show AATCCCAGCTACTCCGGAGGCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0066 a0006c0004t0001g0066	1	82	0.0122	22	c.120 others(39): Show c.120+1996_120+2017dupCAGCCTCCGGAGTAGCTGGGAT		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	3/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137408546	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 HG03130.hp2 HG03139.hp2	a0006 a0029 a0006 a0029	a0006c0017 a0029c0016 a0006c0017 a0029c0016	a0006c0017t0001 a0029c0016t0001 a0006c0017t0001 a0029c0016t0001	a0006c0017t0001g0029 a0029c0016t0001g0007 a0006c0017t0001g0029 a0029c0016t0001g0007	2	82	0.0244	22	c.-47 others(41): Show c.-47-13143_-47-13142insTTTTTTTTTTTTTTTTTTTTTT		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	1/21						chr9	TogoVar
EXOC2_chr6_480154_698139	501535	T T	TATATTAT others(15): Show TATATTATATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0088 a0001c0001t0005g0088	1	272	0.0037	22	c.238 others(41): Show c.2381-1836_2381-1835insTATATATAGATATATATAATAT		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAA others(15): Show ATATATAATATATAGATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01975.hp2 HG02300.hp1 others(5): Show HG01517.hp1 HG01975.hp2 HG02300.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0001c0002t0002	a0001c0001t0001g0239 a0001c0001t0003g0232 a0001c0001t0003g0234 others(5): Show a0001c0001t0001g0239 a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0005g0088 a0001c0001t0008g0147 a0001c0001t0018g0083 a0001c0002t0002g0187 a0001c0002t0002g0191	8	272	0.0294	22	c.238 others(41): Show c.2381-1867_2381-1866insATATATATCTATATATTATATA		EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27						chr6	TogoVar
EXOC3L2_chr19_45207370_45250407	45229856	T T	TATATATG others(15): Show TATATATGTACATTAATGTACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(32): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG01433.hp2 HG01891.hp2 HG02015.hp1 HG02132.hp1 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG02895.hp1 HG02922.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03579.hp1 HG03669.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp1 NA18969.hp1 NA18979.hp1 NA18993.hp1 NA18995.hp2 NA19068.hp2 NA19079.hp1 NA19085.hp1 NA20300.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0015 a0018 a0020	a0001c0001 a0001c0002 a0001c0009 others(5): Show a0001c0001 a0001c0002 a0001c0009 a0003c0005 a0004c0006 a0015c0040 a0018c0029 a0020c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0009t0001 a0003c0005t0004 a0004c0006t0001 a0004c0006t0002 a0015c0040t0001 a0018c0029t0002 a0020c0022t0001	a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0195 others(31): Show a0001c0001t0001g0070 a0001c0001t0001g0099 a0001c0001t0001g0195 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0002g0021 a0001c0001t0002g0095 a0001c0001t0002g0151 a0001c0001t0002g0273 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0004g0103 a0001c0001t0004g0231 a0001c0002t0001g0002 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0002g0214 a0001c0002t0004g0119 a0001c0002t0004g0237 a0001c0009t0001g0093 a0001c0009t0001g0100 a0003c0005t0004g0340 a0004c0006t0001g0298 a0004c0006t0002g0299 a0004c0006t0002g0300 a0004c0006t0002g0301 a0004c0006t0002g0303 a0004c0006t0002g0304 a0015c0040t0001g0238 a0018c0029t0002g0008 a0020c0022t0001g0110	35	356	0.0983	22	c.127 others(41): Show c.1270-1591_1270-1590insGTGTACATTAATGTACATATAT		EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	4/11						chr19	TogoVar
EXOC3L2_chr19_45207370_45250407	45245739	C C	CGGGGGGG others(15): Show CGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG03834.hp2 HG02683.hp1 HG03834.hp2	a0003 a0016 a0003 a0016	a0003c0015 a0016c0018 a0003c0015 a0016c0018	a0003c0015t0001 a0016c0018t0003 a0003c0015t0001 a0016c0018t0003	a0003c0015t0001g0317 a0016c0018t0003g0332 a0003c0015t0001g0317 a0016c0018t0003g0332	2	356	0.0056	22	c.-41 others(31): Show c.-416_-415insCCCCCCCCCCCCCCCCCCCCCC		EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding					333		chr19	TogoVar
EXOC3L4_chr14_103089725_103115559	103107409	C C	CCCCTCTG others(15): Show CCCCTCTGTCCCCAGCCGCTCTT	frameshift_variant frameshift_variant	HIGH	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0073 a0002c0007t0003g0073	1	404	0.0025	22	c.158 others(34): Show c.1582-13_1590dupCCTCTGTCCCCAGCCGCTCTTC	p.Arg others(5): Show p.Arg531fs	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	9/12	1723/2637	1591/2169	531/722		INFO_REALIGN_3_PRIME	chr14	TogoVar
EXOC4_chr7_133248078_134070761	133516758	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02622.hp2 HG03516.hp1 HG02080.hp1 HG02622.hp2 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0014 a0001c0006t0010 a0001c0003t0001 a0001c0003t0014 a0001c0006t0010	a0001c0003t0001g0023 a0001c0003t0014g0049 a0001c0006t0010g0035 a0001c0003t0001g0023 a0001c0003t0014g0049 a0001c0006t0010g0035	3	102	0.0294	22	c.141 others(43): Show c.1417+36634_1417+36635insTTTTTTTTTTTTTTTTTTTTTT		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133941821	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG06807.hp1 NA18945.hp1 others(1): Show HG01255.hp1 HG06807.hp1 NA18945.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0006 a0001c0003t0002 a0001c0002t0001 a0001c0002t0006 a0001c0003t0002	a0001c0002t0001g0091 a0001c0002t0006g0065 a0001c0003t0002g0015 others(1): Show a0001c0002t0001g0091 a0001c0002t0006g0065 a0001c0003t0002g0015 a0001c0003t0002g0018	4	102	0.0392	22	c.220 others(41): Show c.2206+3761_2206+3782dupTCTCTCTCTCTCTCTCTCTCTC		EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133971334	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0011	1	102	0.0098	22	c.220 others(43): Show c.2207-26151_2207-26130dupTATATATATATATATATATATA		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(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG01243.hp2 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0009 a0002c0004t0008 a0001c0002t0009 a0002c0004t0008	a0001c0002t0009g0003 a0002c0004t0008g0004 a0001c0002t0009g0003 a0002c0004t0008g0004	2	104	0.0192	22	c.219 others(43): Show c.2196+27785_2196+27786insAAAAAAAAAAAAAAAAAAAAAA		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	20/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72397660	T T	TAAAATAA others(15): Show TAAAATAAAATAAAATAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	104	0.0096	22	c.198 others(43): Show c.1981-17791_1981-17790insTTTTTTTATTTTATTTTATTTT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72767808	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02258.hp1 HG02965.hp2 others(1): Show HG01123.hp1 HG02258.hp1 HG02965.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0015	a0001c0001t0002g0031 a0001c0001t0003g0029 a0001c0003t0001g0086 others(1): Show a0001c0001t0002g0031 a0001c0001t0003g0029 a0001c0003t0001g0086 a0001c0003t0015g0099	4	104	0.0385	22	c.114 others(41): Show c.114-26361_114-26340dupTTTTTTTTTTTTTTTTTTTTTT		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21						chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72773120	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0066	1	104	0.0096	22	c.114 others(41): Show c.114-31673_114-31652dupAAAAAAAAAAAAAAAAAAAAAA		EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	1/21						chr2	TogoVar
EXOC6_chr10_92843520_93064490	92988800	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0156 a0001c0001t0004g0156	1	288	0.0035	22	c.195 others(41): Show c.1954-8655_1954-8634dupACACACACACACACACACACAC		EXOC6	ENSG00000138190.17	transcript	ENST00000260762.10	protein_coding	18/21					INFO_REALIGN_3_PRIME	chr10	TogoVar
EXOC7_chr17_76076016_76108787	76077966	C C	CGGGGGGG others(15): Show CGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG04115.hp1 NA19240.hp1 HG01361.hp2 HG04115.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0053 a0001c0001t0005g0075 a0001c0001t0005g0258 a0001c0001t0005g0053 a0001c0001t0005g0075 a0001c0001t0005g0258	3	366	0.0082	22	c.56 others(33): Show c.5681_*5682insCCCCCCCCCCCCCCCCCCCCCC		EXOC7	ENSG00000182473.22	transcript	ENST00000589210.6	protein_coding					3049		chr17	TogoVar
EXOG_chr3_38491340_38531303	38492731	T T	TACACACA others(15): Show TACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	22	c.-36 others(33): Show c.-3637_-3636insACACACACACACACACACACAC		EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding					3608		chr3	TogoVar
EXOSC1_chr10_97430909_97451006	97449861	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03688.hp2 HG03209.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0127 a0001c0001t0001g0010 a0001c0001t0001g0127	2	430	0.0047	22	c.-38 others(33): Show c.-3877_-3876insAAAAAAAAAAAAAAAAAAAAAA		EXOSC1	ENSG00000171311.13	transcript	ENST00000370902.8	protein_coding					3856		chr10	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0030 a0030	a0030c0034 a0030c0034	a0030c0034t0001 a0030c0034t0001	a0030c0034t0001g0100 a0030c0034t0001g0100	1	314	0.0032	22	c.444 others(39): Show c.444-4183_444-4182insAATATATATATATATATATATA		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5						chr11	TogoVar
EXPH5_chr11_108500435_108598768	108532366	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0047 a0008c0009t0047	a0008c0009t0047g0122 a0008c0009t0047g0122	1	314	0.0032	22	c.444 others(39): Show c.444-4183_444-4182insAAAATATATATATATATATATA		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	3/5						chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAC others(15): Show TCCCCCACCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02572.hp1 others(7): Show HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02896.hp2 HG02922.hp1 HG03130.hp1 HG03130.hp2 NA18974.hp2 NA18986.hp2 NA19002.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0010 a0020 a0029 a0035	a0001c0001 a0002c0035 a0005c0005 others(4): Show a0001c0001 a0002c0035 a0005c0005 a0010c0008 a0020c0021 a0029c0030 a0035c0043	a0001c0001t0008 a0002c0035t0044 a0005c0005t0003 others(4): Show a0001c0001t0008 a0002c0035t0044 a0005c0005t0003 a0010c0008t0006 a0020c0021t0001 a0029c0030t0036 a0035c0043t0004	a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0087 others(7): Show a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0087 a0002c0035t0044g0090 a0005c0005t0003g0287 a0005c0005t0003g0288 a0010c0008t0006g0088 a0020c0021t0001g0286 a0029c0030t0036g0093 a0035c0043t0004g0207	10	314	0.0319	22	c.119 others(39): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGGTGGGGG		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5						chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAT others(15): Show TCCCCCATCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18998.hp2 NA19002.hp1 NA18942.hp1 NA18998.hp2 NA19002.hp1	a0005 a0006 a0005 a0006	a0005c0005 a0006c0006 a0005c0005 a0006c0006	a0005c0005t0003 a0006c0006t0001 a0005c0005t0003 a0006c0006t0001	a0005c0005t0003g0284 a0005c0005t0003g0285 a0006c0006t0001g0283 a0005c0005t0003g0284 a0005c0005t0003g0285 a0006c0006t0001g0283	3	314	0.0096	22	c.119 others(39): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGATGGGGG		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5						chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586599	C C	CTTTCCTC others(15): Show CTTTCCTCCCTCCCCCATCCCCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0083 a0004c0004t0001g0083	1	314	0.0032	22	c.119 others(39): Show c.119+6818_119+6819insAGGGGATGGGGGAGGGAGGAAA		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5						chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586609	T T	TCCCCCAT others(15): Show TCCCCCATCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG01106.hp2 others(4): Show HG00280.hp2 HG00733.hp1 HG01106.hp2 HG01346.hp1 HG01517.hp2 HG01975.hp1 HG03704.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0033 a0002c0002 others(2): Show a0001c0001 a0001c0033 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0033t0011 a0002c0002t0009 others(3): Show a0001c0001t0002 a0001c0033t0011 a0002c0002t0009 a0003c0003t0002 a0004c0004t0001 a0004c0004t0053	a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0033t0011g0159 others(4): Show a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0033t0011g0159 a0002c0002t0009g0181 a0003c0003t0002g0213 a0004c0004t0001g0160 a0004c0004t0053g0158	7	314	0.0223	22	c.119 others(39): Show c.119+6808_119+6809insGAGGGAGGAAAGGGGATGGGGG		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5						chr11	TogoVar
EXT1_chr8_117789490_118116826	117809209	G G	GTATAAAT others(15): Show GTATAAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0052 a0001c0002t0020g0052	1	190	0.0053	22	c.172 others(41): Show c.1723-1833_1723-1832insTATATATATATATATATTTATA		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	8/10						chr8	TogoVar
EXT1_chr8_117789490_118116826	117809209	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	1	190	0.0053	22	c.172 others(41): Show c.1723-1833_1723-1832insTATATATATATATATATATATA		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	8/10						chr8	TogoVar
EXT1_chr8_117789490_118116826	117851616	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0018 a0001c0002t0036g0018	1	190	0.0053	22	c.963 others(41): Show c.963-14437_963-14416dupGTGTGTGTGTGTGTGTGTGTGT		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10						chr8	TogoVar
EXT1_chr8_117789490_118116826	117870823	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01074.hp1 others(3): Show HG00544.hp1 HG00558.hp2 HG01074.hp1 HG03225.hp2 NA18522.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0069 a0001c0007t0014	a0001c0001t0001g0062 a0001c0001t0004g0040 a0001c0001t0004g0045 others(3): Show a0001c0001t0001g0062 a0001c0001t0004g0040 a0001c0001t0004g0045 a0001c0001t0019g0035 a0001c0001t0069g0182 a0001c0007t0014g0012	6	190	0.0316	22	c.963 others(41): Show c.963-33644_963-33623dupTGTGTGTGTGTGTGTGTGTGTG		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10						chr8	TogoVar
EXT1_chr8_117789490_118116826	117874575	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02155.hp1 HG03516.hp1 others(7): Show HG02129.hp1 HG02155.hp1 HG03516.hp1 NA18948.hp2 NA18950.hp2 NA18962.hp1 NA18968.hp1 NA18990.hp1 NA19004.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0004 a0001c0002t0036 a0001c0002t0067 a0001c0011t0056	a0001c0001t0001g0136 a0001c0001t0003g0072 a0001c0001t0004g0109 others(7): Show a0001c0001t0001g0136 a0001c0001t0003g0072 a0001c0001t0004g0109 a0001c0001t0004g0143 a0001c0001t0005g0067 a0001c0002t0002g0053 a0001c0002t0004g0110 a0001c0002t0036g0018 a0001c0002t0067g0180 a0001c0011t0056g0082	10	190	0.0526	22	c.963 others(41): Show c.963-37375_963-37374insTTTTTTTTTTTTTTTTTTTTTT		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10						chr8	TogoVar
EXT1_chr8_117789490_118116826	117997244	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03471.hp2 HG02559.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0064 a0001c0001t0006 a0001c0001t0064	a0001c0001t0006g0126 a0001c0001t0064g0177 a0001c0001t0006g0126 a0001c0001t0064g0177	2	190	0.0105	22	c.962 others(43): Show c.962+112840_962+112841insATATATATATATATATATATAT		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10						chr8	TogoVar
EXT1_chr8_117789490_118116826	118113691	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0077 a0001c0001t0016g0077	1	190	0.0053	22	c.-26 others(33): Show c.-2646_-2645insTATATATATATATATATATATA		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding					1866		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0002 a0001c0005t0026g0002	1	190	0.0053	22	c.-26 others(33): Show c.-2650_-2649insTATATATATATATATAGAGAGA		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding					1870		chr8	TogoVar
EXT1_chr8_117789490_118116826	118113695	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01515.hp1 HG00323.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0002 a0001c0001t0005 a0001c0003t0002	a0001c0001t0005g0152 a0001c0003t0002g0099 a0001c0001t0005g0152 a0001c0003t0002g0099	2	190	0.0105	22	c.-26 others(33): Show c.-2650_-2649insTATATATATAGAGAGAGAGAGA		EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding					1870		chr8	TogoVar
EXT2_chr11_44090678_44256962	44119139	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19001.hp2 NA18986.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0034 a0001c0001t0008 a0001c0001t0034	a0001c0001t0008g0234 a0001c0001t0034g0230 a0001c0001t0008g0234 a0001c0001t0034g0230	2	334	0.0060	22	c.743 others(39): Show c.743+4859_743+4860insCATATATATATATATATATATA		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(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01256.hp1 HG02165.hp1 others(6): Show HG00597.hp2 HG01256.hp1 HG02165.hp1 HG02523.hp2 NA18945.hp2 NA18960.hp1 NA18960.hp2 NA19000.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0009 a0001c0002t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0004	a0001c0001t0005g0280 a0001c0001t0009g0260 a0001c0001t0009g0278 others(6): Show a0001c0001t0005g0280 a0001c0001t0009g0260 a0001c0001t0009g0278 a0001c0001t0009g0279 a0001c0001t0009g0285 a0001c0001t0009g0290 a0001c0002t0004g0026 a0001c0002t0004g0043 a0001c0002t0004g0056	9	334	0.0270	22	c.743 others(39): Show c.743+4869_743+4870insTATATATATATATATATACACA		EXT2	ENSG00000151348.16	transcript	ENST00000533608.7	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
EXTL1_chr1_26016775_26041464	26027691	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0059 a0002c0002t0001g0059	1	372	0.0027	22	c.780 others(39): Show c.780-1486_780-1485insGAAAAGAAAAAAAAAAAAAAAA		EXTL1	ENSG00000158008.10	transcript	ENST00000374280.4	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar

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