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
SENP1_chr12_48037897_48111079	48078334	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01952.hp1 others(4): Show HG01515.hp2 HG01517.hp2 HG01952.hp1 HG02109.hp2 HG02258.hp1 HG02723.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0001g0075 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0315 a0001c0001t0002g0325 a0001c0001t0002g0344 a0001c0001t0002g0346	7	164	0.0427	22	c.553 others(39): Show c.553-3542_553-3541insGTATATATATATATATATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	6/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48102113	C C	CAAAATAA others(15): Show CAAAATAAAGATGTTAAAAACCA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	392	0.0026	22	c.-44 others(37): Show c.-44-619_-44-598dupTGGTTTTTAACATCTTTATTTT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	1/17			chr12	TogoVar
SENP2_chr3_185581295_185638551	185587570	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00673.hp1 others(15): Show HG00423.hp2 HG00609.hp1 HG00673.hp1 HG01099.hp1 HG01109.hp1 HG01975.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02698.hp2 HG03017.hp1 HG03710.hp2 NA18747.hp2 NA18960.hp2 NA18989.hp2 NA19002.hp1 NA19074.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 others(10): Show a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0016 a0002c0002t0021 a0002c0002t0025 a0002c0002t0071 a0002c0002t0073 a0002c0002t0074 a0002c0002t0076 a0002c0002t0085 a0002c0002t0093	a0002c0002t0007g0309 a0002c0002t0009g0296 a0002c0002t0012g0010 others(14): Show a0002c0002t0007g0309 a0002c0002t0009g0296 a0002c0002t0012g0010 a0002c0002t0012g0301 a0002c0002t0013g0297 a0002c0002t0016g0295 a0002c0002t0016g0299 a0002c0002t0021g0302 a0002c0002t0021g0308 a0002c0002t0025g0303 a0002c0002t0025g0306 a0002c0002t0071g0307 a0002c0002t0073g0300 a0002c0002t0074g0310 a0002c0002t0076g0305 a0002c0002t0085g0304 a0002c0002t0093g0298	18	223	0.0807	22	c.101 others(39): Show c.101+1070_101+1071insTTTTTTTTTTTTTTTTTTTTTT	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185623826	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19078.hp1 HG02970.hp2 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0013 a0002c0002t0009 a0002c0002t0013	a0002c0002t0009g0328 a0002c0002t0013g0210 a0002c0002t0009g0328 a0002c0002t0013g0210	2	148	0.0135	22	c.152 others(39): Show c.1527-169_1527-148dupAAAAAAAAAAAAAAAAAAAAAA	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185631473	T T	TCCCTCTC others(15): Show TCCCTCTCCCTCCCTCCCCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp2 others(49): Show HG00099.hp2 HG00280.hp1 HG00597.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02717.hp2 HG03017.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 NA18906.hp1 NA18968.hp2 NA18980.hp1 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19070.hp1 NA19082.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0112 a0002c0002t0001 a0002c0002t0003 others(18): Show a0001c0001t0112 a0002c0002t0001 a0002c0002t0003 a0002c0002t0022 a0002c0002t0027 a0002c0002t0069 a0002c0002t0070 a0002c0002t0099 a0002c0002t0100 a0002c0002t0102 a0002c0002t0104 a0002c0002t0105 a0002c0002t0107 a0002c0002t0108 a0002c0002t0109 a0002c0002t0110 a0002c0002t0111 a0002c0002t0196 a0002c0002t0198 a0002c0002t0199 a0002c0002t0200	a0001c0001t0112g0027 a0002c0002t0001g0214 a0002c0002t0001g0216 others(49): Show a0001c0001t0112g0027 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0223 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0252 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0003g0211 a0002c0002t0003g0222 a0002c0002t0003g0224 a0002c0002t0003g0229 a0002c0002t0003g0236 a0002c0002t0003g0246 a0002c0002t0003g0249 a0002c0002t0003g0251 a0002c0002t0003g0253 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0273 a0002c0002t0022g0217 a0002c0002t0022g0218 a0002c0002t0022g0221 a0002c0002t0027g0226 a0002c0002t0027g0274 a0002c0002t0069g0277 a0002c0002t0070g0259 a0002c0002t0099g0235 a0002c0002t0100g0254 a0002c0002t0102g0261 a0002c0002t0104g0220 a0002c0002t0105g0013 a0002c0002t0107g0219 a0002c0002t0108g0257 a0002c0002t0109g0012 a0002c0002t0110g0267 a0002c0002t0111g0239 a0002c0002t0196g0271 a0002c0002t0198g0270 a0002c0002t0199g0247 a0002c0002t0200g0248	52	302	0.1722	22	c.16 others(33): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCTC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP2_chr3_185581295_185638551	185631492	T T	TCCCTCCC others(15): Show TCCCTCCCCCCTCCCTCCCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0150 a0001c0001t0150	a0001c0001t0150g0087 a0001c0001t0150g0087	1	269	0.0037	22	c.16 others(33): Show c.1651_*1652insTCCCCCCTCCCTCCCCTCCCCC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1652	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP3_chr17_7556919_7576969	7571837	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	316	0.0032	22	c.40 others(31): Show c.405_*426dupTATATATATATATATATATATA	SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11	427	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03017.hp1 HG03239.hp1 others(1): Show HG00642.hp2 HG03017.hp1 HG03239.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0047 others(1): Show a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0011g0035	4	70	0.0571	22	c.188 others(41): Show c.1885-8827_1885-8826insAAAAAAAAAAAATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0049	3	69	0.0435	22	c.188 others(41): Show c.1885-8827_1885-8826insAAAAAAAAAATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02027.hp2 NA20905.hp1 HG01255.hp1 HG02027.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0050 a0001c0002t0003g0166 a0001c0002t0003g0194 a0001c0001t0002g0050 a0001c0002t0003g0166 a0001c0002t0003g0194	3	69	0.0435	22	c.188 others(41): Show c.1885-8827_1885-8826insAAAAAAAATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03710.hp1 NA21309.hp2 HG03486.hp2 HG03710.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0016 a0001c0002t0003 a0001c0001t0002 a0001c0001t0016 a0001c0002t0003	a0001c0001t0002g0046 a0001c0001t0016g0132 a0001c0002t0003g0164 a0001c0001t0002g0046 a0001c0001t0016g0132 a0001c0002t0003g0164	3	69	0.0435	22	c.188 others(41): Show c.1885-8827_1885-8826insAAAAAATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18951.hp2 HG03654.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0064 a0001c0001t0011g0062 a0001c0001t0011g0064	2	68	0.0294	22	c.188 others(41): Show c.1885-8827_1885-8826insAAAATATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0018 a0001c0005t0018	a0001c0005t0018g0088 a0001c0005t0018g0088	1	67	0.0149	22	c.188 others(41): Show c.1885-8827_1885-8826insAATATATATATATATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75666053	G G	GATATATA others(15): Show GATATATAAAACGTATATATGAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	360	0.0028	22	c.995 others(37): Show c.995-626_995-605dupCGTATATATGATATATATAAAA	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
SENP7_chr3_101319205_101518212	101463364	A A	AATAAATA others(15): Show AATAAATAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18949.hp1 NA19005.hp2 NA18948.hp2 NA18949.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0326	3	253	0.0119	22	c.187 others(39): Show c.187-4313_187-4312insATATATATATATATTTATTTAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463364	A A	AATAAATA others(15): Show AATAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	251	0.0040	22	c.187 others(39): Show c.187-4313_187-4312insATATATATATATATATATTTAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463378	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	352	0.0028	22	c.187 others(39): Show c.187-4327_187-4326insGTGTATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463380	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	319	0.0031	22	c.187 others(39): Show c.187-4329_187-4328insGTGTGTATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463380	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03490.hp2 HG03492.hp2 HG01978.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0209 a0001c0001t0001g0265 a0001c0001t0001g0271	3	321	0.0093	22	c.187 others(39): Show c.187-4329_187-4328insGTGTATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463380	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01978.hp2 others(4): Show HG00642.hp2 HG01167.hp1 HG01978.hp2 HG02080.hp1 HG02738.hp2 NA18954.hp1 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0198 a0001c0001t0001g0253 a0001c0001t0001g0254 others(4): Show a0001c0001t0001g0198 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0004g0244	7	325	0.0215	22	c.187 others(39): Show c.187-4329_187-4328insGTATATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463382	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp1 HG01952.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0262 a0001c0001t0001g0201 a0001c0001t0001g0262	2	365	0.0055	22	c.187 others(39): Show c.187-4331_187-4330insGTATATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463400	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp2 HG01099.hp1 others(2): Show HG00639.hp1 HG01081.hp2 HG01099.hp1 HG01257.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0318 a0001c0001t0004g0302	5	222	0.0225	22	c.187 others(39): Show c.187-4349_187-4348insGTGTATATATATATATATATAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101463416	T T	TATACACA others(15): Show TATACACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0305	1	347	0.0029	22	c.187 others(39): Show c.187-4365_187-4364insGTATATATATATATATGTGTAT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101499535	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01069.hp1 others(5): Show HG00280.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01255.hp2 HG03669.hp2 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0092 a0003c0004t0002g0094 a0003c0004t0002g0097 others(5): Show a0003c0004t0002g0092 a0003c0004t0002g0094 a0003c0004t0002g0097 a0003c0004t0002g0113 a0003c0004t0002g0114 a0003c0004t0002g0115 a0003c0004t0002g0116 a0003c0004t0002g0117	8	185	0.0432	22	c.90+ others(37): Show c.90+1534_90+1535insAAAAAAAAAAAAAAAAAAAAAA	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	2/23			chr3	TogoVar
SEPTIN11_chr4_76944752_77043615	76956962	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02572.hp1 others(1): Show HG02145.hp2 HG02486.hp2 HG02572.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0319 a0001c0001t0008g0083 a0001c0001t0008g0084 others(1): Show a0001c0001t0001g0319 a0001c0001t0008g0083 a0001c0001t0008g0084 a0001c0001t0008g0085	4	113	0.0354	22	c.27+ others(37): Show c.27+7043_27+7064dupTGTGTGTGTGTGTGTGTGTGTG	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN11_chr4_76944752_77043615	77016615	C C	CACATATA others(15): Show CACATATATATATATATACACAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02165.hp2 NA18747.hp1 others(3): Show HG00609.hp1 HG02165.hp2 NA18747.hp1 NA18955.hp1 NA19000.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0259 a0001c0001t0001g0321 a0001c0001t0004g0014 others(2): Show a0001c0001t0001g0259 a0001c0001t0001g0321 a0001c0001t0004g0014 a0001c0001t0004g0164 a0001c0001t0004g0239	6	234	0.0256	22	c.687 others(39): Show c.687+1599_687+1600insCATATATATATATATACACATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN11_chr4_76944752_77043615	77016633	C C	CACATATA others(15): Show CACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG03834.hp2 HG00280.hp2 HG00733.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0325 a0001c0001t0001g0335 a0001c0001t0004g0165 a0001c0001t0001g0325 a0001c0001t0001g0335 a0001c0001t0004g0165	3	224	0.0134	22	c.687 others(39): Show c.687+1617_687+1618insCATATATATATATATATATATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN11_chr4_76944752_77043615	77016633	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02129.hp1 HG02155.hp2 others(6): Show HG00621.hp1 HG02129.hp1 HG02155.hp2 HG02486.hp1 HG02818.hp1 HG02976.hp1 HG03516.hp2 HG04199.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0251 a0001c0001t0001g0252 others(6): Show a0001c0001t0001g0034 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0291 a0001c0001t0001g0314 a0001c0001t0001g0320	9	230	0.0391	22	c.687 others(39): Show c.687+1618_687+1639dupTATATATATATATATATATATA	SEPTIN11	ENSG00000138758.12	transcript	ENST00000264893.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATTT others(15): Show ATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0089 a0001c0001t0006g0089	1	147	0.0068	22	c.720 others(39): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0087 a0001c0001t0006g0087	1	147	0.0068	22	c.720 others(39): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAAAAA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55846065	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp2 HG01515.hp1 others(5): Show HG01175.hp1 HG01261.hp2 HG01515.hp1 HG02027.hp2 HG02129.hp2 HG02300.hp1 NA18747.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0250 a0001c0001t0001g0295 a0001c0001t0001g0332 others(5): Show a0001c0001t0001g0250 a0001c0001t0001g0295 a0001c0001t0001g0332 a0001c0001t0001g0372 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0005g0226 a0001c0001t0007g0177	8	51	0.1569	22	c.175 others(37): Show c.175+430_175+451dupTATATATATATATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	3/9			chr7	TogoVar
SEPTIN6_chrX_119611945_119698168	119621446	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19058.hp1 HG02976.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0191 a0001c0001t0001g0140 a0001c0001t0001g0191	2	53	0.0377	22	c.42 others(39): Show c.42-1417_*42-1396dupACACACACACACACACACACAC	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	10/10			chrX	TogoVar
SEPTIN7_chr7_35796057_35912110	35829128	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0029 a0001c0001t0003g0029	1	131	0.0076	22	c.62- others(37): Show c.62-2361_62-2340dupTTTTTTTTTTTTTTTTTTTTTT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35840200	C C	CTCCCCCC others(15): Show CTCCCCCCTTTCCCCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	344	0.0029	22	c.169 others(39): Show c.169+7320_169+7341dupCCTTCCCCCCTTTCCCCTCCCC	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77300684	A A	ACGCCCCC others(15): Show ACGCCCCCACCCCAGGCTCAAAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	136	0.0074	22	c.20- others(37): Show c.20-6426_20-6405dupCCCCAGGCTCAAACCGCCCCCA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77300793	C C	CGCCCCCA others(15): Show CGCCCCCATCCCAGGCTCAAAGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	148	0.0068	22	c.20- others(37): Show c.20-6326_20-6305dupTGCCCCCATCCCAGGCTCAAAG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77497069	A A	AGAGCAGG others(15): Show AGAGCAGGAGCTGAGCTGTCCAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02630.hp2 others(3): Show HG02451.hp2 HG02559.hp1 HG02630.hp2 HG03130.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 others(3): Show a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0007g0146	6	148	0.0405	22	c.157 others(39): Show c.1574-233_1574-212dupAGCTGTCCAGGAGCAGGAGCTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77497069	A A	AGAGCAGG others(15): Show AGAGCAGGAGCTGAGCTGTCCAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG03130.hp1 others(2): Show HG02559.hp2 HG02630.hp2 HG03130.hp1 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0054 a0001c0001t0002 a0001c0001t0023 a0001c0001t0054	a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 others(2): Show a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 a0001c0001t0023g0068 a0001c0001t0054g0073	5	156	0.0321	22	c.152 others(39): Show c.1520-233_1520-212dupAGCTGTCCAGGAGCAGGAGCTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERF1B_chr5_70020251_70048113	70036629	A A	ACTCTCTC others(15): Show ACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18956.hp2 NA18981.hp2 HG03669.hp1 NA18956.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0055 a0001c0001t0001g0108 a0001c0001t0001g0114	3	35	0.0857	22	c.117 others(39): Show c.117-4881_117-4860dupTCTCTCTCTCTCTCTCTCTCTC	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERGEF_chr11_17783048_18018047	17896623	G G	GGGGAAGG others(15): Show GGGGAAGGGGAAGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG03041.hp2 others(1): Show HG02280.hp1 HG02886.hp1 HG03041.hp2 HG03453.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0004 a0001c0001 a0002c0003 a0005c0004	a0001c0001t0001 a0002c0003t0001 a0005c0004t0001 a0001c0001t0001 a0002c0003t0001 a0005c0004t0001	a0001c0001t0001g0045 a0001c0001t0001g0115 a0002c0003t0001g0020 others(1): Show a0001c0001t0001g0045 a0001c0001t0001g0115 a0002c0003t0001g0020 a0005c0004t0001g0002	4	77	0.0519	22	c.101 others(43): Show c.1012-18401_1012-18380dupTTCCCCTTCCCTTCCCCTTCCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	17896714	G G	GGGAAGGG others(15): Show GGGAAGGGTAACGGAAGGGTAAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	220	0.0045	22	c.101 others(43): Show c.1012-18492_1012-18471dupGTTACCCTTCCGTTACCCTTCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	17896714	G G	GGGAAGGG others(15): Show GGGAAGGGTAAGGGAAGGGTAAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18972.hp1 HG03688.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0128 a0001c0001t0002g0216 a0001c0001t0001g0128 a0001c0001t0002g0216	2	221	0.0090	22	c.101 others(43): Show c.1012-18471_1012-18470insGTTACCCTTCCCTTACCCTTCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp1 HG02132.hp2 others(10): Show HG00423.hp1 HG02129.hp1 HG02132.hp2 NA18950.hp1 NA18956.hp1 NA18965.hp1 NA18990.hp2 NA18997.hp2 NA19004.hp1 NA19065.hp1 NA19066.hp1 NA19084.hp1 NA19085.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0004c0004t0001 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0213 others(9): Show a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0218 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0273 a0002c0002t0001g0288 a0002c0002t0001g0301 a0002c0002t0002g0278 a0004c0004t0001g0038	13	132	0.0985	22	c.533 others(37): Show c.533+778_533+799dupAAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	58	0.0172	22	c.37 others(33): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	70	0.0143	22	c.760 others(35): Show c.760-23_760-22insATATATATATTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	70	0.0143	22	c.760 others(35): Show c.760-23_760-22insATATATATATATATATTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31413153	T T	TGGGGCGG others(15): Show TGGGGCGGGGCCGGGGCGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01891.hp1 HG01255.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	370	0.0054	22	c.-11 others(31): Show c.-113_-112insGGGGCGGGGCCGGGGCGGGGCC	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding		59		chr1	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	38	0.0263	22	c.39+ others(37): Show c.39+1130_39+1151dupTGTGTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31414454	T T	TGTGTGAG others(15): Show TGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0239 a0002c0002t0006g0239	1	241	0.0041	22	c.39+ others(37): Show c.39+1151_39+1152insTGTGAGAGAGAGAGAGAGAGAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31414454	T T	TGTGTGTG others(15): Show TGTGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	241	0.0041	22	c.39+ others(37): Show c.39+1151_39+1152insTGTGTGAGAGAGAGAGAGAGAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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