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
ODF2_chr9_128451006_128506292	128470018	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03654.hp1 HG03654.hp2 HG01123.hp2 HG03654.hp1 HG03654.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0001 a0001c0001t0001 a0004c0006t0001	a0001c0001t0001g0220 a0001c0001t0001g0257 a0004c0006t0001g0231 a0001c0001t0001g0220 a0001c0001t0001g0257 a0004c0006t0001g0231	3	346	0.0087	28	c.669 others(43): Show c.669+667_669+694dupTATATATATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	346	0.0029	28	c.226 others(45): Show c.2262-966_2262-965insAAAAAAAATATATATATATATATATATA	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODF2_chr9_128451006_128506292	128497446	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0166 a0001c0002t0001g0166	1	346	0.0029	28	c.226 others(45): Show c.2262-954_2262-927dupATATATATATATATATATATATATATAT	ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
ODR4_chr1_186370838_186426375	186383678	G G	GATATATA others(21): Show GATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	410	0.0024	28	c.234 others(43): Show c.234+535_234+536insCATATATATATATATATATATATATATA	ODR4	ENSG00000157181.16	transcript	ENST00000287859.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ODR4_chr1_186370838_186426375	186383678	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02717.hp2 HG00639.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0360 a0001c0001t0001g0364 a0001c0001t0001g0360 a0001c0001t0001g0364	2	410	0.0049	28	c.234 others(43): Show c.234+542_234+543insATATATATATATATATATATATATATAT	ODR4	ENSG00000157181.16	transcript	ENST00000287859.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ODR4_chr1_186370838_186426375	186402186	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19000.hp2 HG01346.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0218 a0002c0002t0001g0197 a0002c0002t0001g0218	2	410	0.0049	28	c.100 others(47): Show c.1000+3142_1000+3143insTTTCTTTCTTTCTTTCTTTCTTTCTT TC	ODR4	ENSG00000157181.16	transcript	ENST00000287859.11	protein_coding	11/13			chr1	TogoVar
ODR4_chr1_186370838_186426375	186402187	A A	ATTCTTTC others(21): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG03491.hp2 others(7): Show HG02280.hp1 HG02615.hp2 HG03491.hp2 NA18954.hp1 NA18972.hp1 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA19063.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0283 others(7): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0368 a0001c0001t0002g0034 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0003g0281	10	410	0.0244	28	c.100 others(47): Show c.1000+3163_1000+3190dupTTTCTTTCTTTCTTTCTTTCTTTCTT TC	ODR4	ENSG00000157181.16	transcript	ENST00000287859.11	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
OGFOD1_chr16_56446554_56484104	56480352	C C	CACAAAAA others(21): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19076.hp2 NA19057.hp1 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0035 a0001c0002t0002 a0001c0002t0035	a0001c0002t0002g0073 a0001c0002t0035g0003 a0001c0002t0002g0073 a0001c0002t0035g0003	2	430	0.0047	28	c.41 others(39): Show c.4147_*4148insACAAAAAAAAAAAAAAAAAAAAAAAAAA	OGFOD1	ENSG00000087263.17	transcript	ENST00000566157.6	protein_coding		1249		chr16	TogoVar
OGFOD3_chr17_82384210_82423586	82401803	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18973.hp1 NA19067.hp2 HG03669.hp2 NA18973.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0193 a0001c0003t0002g0013 a0001c0001t0002g0193 a0001c0003t0002g0013	3	348	0.0086	28	c.699 others(45): Show c.699+2133_699+2134insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	7/8			chr17	TogoVar
OLFM1_chr9_135082668_135126180	135091691	A A	ACAGTCAC others(21): Show ACAGTCACACACACAGTCTCACACATAGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03225.hp1 HG03453.hp1 others(1): Show HG02723.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 others(1): Show a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333	4	360	0.0111	28	c.300 others(45): Show c.300+1349_300+1350insGTCACACACACAGTCTCACACATAGTCA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFM2_chr19_9848718_9941515	9900945	G G	GGGAAGGA others(21): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0243 a0002c0002t0001g0243	1	342	0.0029	28	c.63+ others(45): Show c.63+35331_63+35358dupTTCCTTCCTTCCTTCCTTCCTTCCTTCC	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM2_chr19_9848718_9941515	9900988	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19030.hp2 HG02451.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0054 a0001c0003t0001g0217 a0001c0001t0001g0054 a0001c0003t0001g0217	2	342	0.0059	28	c.63+ others(45): Show c.63+35315_63+35316insCCCTCCCTTCCTTCCTTCCTTCCTTCCT	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM2_chr19_9848718_9941515	9900988	A A	AAGGAAGG others(21): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	342	0.0029	28	c.63+ others(45): Show c.63+35315_63+35316insCCCTCCCTCCCTTCCTTCCTTCCTTCCT	OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding	1/5			chr19	TogoVar
OLFM3_chr1_101797560_102001926	101991016	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	306	0.0033	28	c.69+ others(43): Show c.69+5731_69+5732insATATATATATATATATATATATATATTT	OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5			chr1	TogoVar
OLFML2B_chr1_161978192_162028869	162022260	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0007 a0012c0033t0007	a0012c0033t0007g0282 a0012c0033t0007g0282	1	384	0.0026	28	c.174 others(43): Show c.174+996_174+997insGAAAAAAAAAAAAAAAAAAAAAAAAAAA	OLFML2B	ENSG00000162745.11	transcript	ENST00000294794.8	protein_coding	1/7			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518216	G G	GGGGAGAG others(21): Show GGGGAGAGGGGAGAGGGGAGACGGGAGAC	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA20805.hp1 HG04199.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0096 a0001c0002t0002g0091 a0001c0002t0002g0096	2	384	0.0052	28	c.121 others(47): Show c.1215+9044_1215+9045insGTCTCCCGTCTCCCCTCTCCCCTCTC CC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518223	G G	GGGGAGAC others(21): Show GGGGAGACGGGAGAGGGGAGAGGGGAGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01109.hp1 HG01168.hp1 others(12): Show HG00140.hp1 HG01109.hp1 HG01168.hp1 HG01175.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG03654.hp1 NA18952.hp1 NA18966.hp2 NA18971.hp2 NA18985.hp1 NA18999.hp1 NA19077.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0215 a0001c0001t0001g0255 others(12): Show a0001c0001t0001g0120 a0001c0001t0001g0215 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0327	15	384	0.0391	28	c.121 others(47): Show c.1215+9037_1215+9038insGTCTCCCCTCTCCCCTCTCCCGTCTC CC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OMA1_chr1_58475719_58551726	58518223	G G	GGGGAGAC others(21): Show GGGGAGACGGGAGAGGGGAGAGGGGAGGC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	384	0.0026	28	c.121 others(47): Show c.1215+9037_1215+9038insGCCTCCCCTCTCCCCTCTCCCGTCTC CC	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OPA1_chr3_193588208_193702811	193596407	T T	TTTCTTTT others(21): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(13): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG01934.hp2 HG02040.hp1 HG02148.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp2 HG02922.hp1 HG02976.hp2 HG03195.hp1 NA18944.hp2 NA18948.hp1 NA18995.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 a0002c0002t0017	a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 others(13): Show a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0230 a0002c0002t0002g0231 a0002c0002t0014g0189 a0002c0002t0017g0185	16	388	0.0412	28	c.32+ others(43): Show c.32+3014_32+3015insTCTTTTCTTTTCTTCTTTTCTTTTCTTT	OPA1	ENSG00000198836.11	transcript	ENST00000361510.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr3	TogoVar
OPA3_chr19_45541281_45589802	45572560	G G	GATATATA others(21): Show GATATATATCATGATATATGTATATAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(46): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp2 HG01074.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01496.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03098.hp1 HG03490.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18950.hp1 NA18955.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18981.hp1 NA19011.hp2 NA19012.hp1 NA19057.hp2 NA19082.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0039 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0087 a0001c0001t0126 a0001c0001t0127 a0001c0001t0135	a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0134 others(46): Show a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0214 a0001c0001t0001g0360 a0001c0001t0004g0142 a0001c0001t0006g0020 a0001c0001t0010g0125 a0001c0001t0010g0148 a0001c0001t0010g0149 a0001c0001t0010g0162 a0001c0001t0010g0163 a0001c0001t0010g0166 a0001c0001t0010g0213 a0001c0001t0010g0326 a0001c0001t0013g0023 a0001c0001t0015g0152 a0001c0001t0015g0154 a0001c0001t0015g0157 a0001c0001t0015g0160 a0001c0001t0015g0309 a0001c0001t0019g0022 a0001c0001t0020g0318 a0001c0001t0021g0019 a0001c0001t0024g0159 a0001c0001t0024g0249 a0001c0001t0024g0250 a0001c0001t0028g0145 a0001c0001t0039g0146 a0001c0001t0039g0147 a0001c0001t0073g0124 a0001c0001t0074g0155 a0001c0001t0076g0161 a0001c0001t0077g0206 a0001c0001t0079g0150 a0001c0001t0080g0153 a0001c0001t0081g0151 a0001c0001t0087g0021 a0001c0001t0126g0133 a0001c0001t0127g0252 a0001c0001t0135g0170	49	398	0.1231	28	c.142 others(47): Show c.142+12035_142+12062dupATTTATATACATATATCATGATATAT AT	OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1			chr19	TogoVar
OPA3_chr19_45541281_45589802	45572781	C C	CTATATAT others(21): Show CTATATATATAGATATATATATCATACTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0154 a0001c0001t0154	a0001c0001t0154g0111 a0001c0001t0154g0111	1	398	0.0025	28	c.142 others(47): Show c.142+11841_142+11842insTAGTATGATATATATATCTATATATA TA	OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1			chr19	TogoVar
OPCML_chr11_132409981_133537501	132452556	T T	TTTTCCTT others(21): Show TTTTCCTTCCTTCCTGCCTGCCTTCCTAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0033 a0001c0001t0020g0033	1	68	0.0147	28	c.506 others(47): Show c.506-15225_506-15198dupGTAGGAAGGCAGGCAGGAAGGAAGGA AA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	4/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	132638163	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	68	0.0147	28	c.379 others(47): Show c.379+18923_379+18924insTATATATATATATATATATATATATA TA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	3/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133247540	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01516.hp1 HG01978.hp1 HG01192.hp1 HG01516.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0003g0024 a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0003g0024	3	68	0.0441	28	c.61+ others(47): Show c.61+284696_61+284723dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133422377	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp2 NA20905.hp1 HG01891.hp2 HG03209.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0002g0026 a0001c0001t0003g0030 a0001c0001t0001g0028 a0001c0001t0002g0026 a0001c0001t0003g0030	3	68	0.0441	28	c.61+ others(47): Show c.61+109886_61+109887insTATATATATATATATATATATATATA TA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133422377	T T	TTTTATAT others(21): Show TTTTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03225.hp2 HG02145.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0021 a0001c0001t0018 a0001c0001t0021	a0001c0001t0018g0008 a0001c0001t0021g0036 a0001c0001t0018g0008 a0001c0001t0021g0036	2	68	0.0294	28	c.61+ others(47): Show c.61+109886_61+109887insTATATATATATATATATATATATATA AA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133440762	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0055 a0001c0001t0027g0055	1	68	0.0147	28	c.61+ others(45): Show c.61+91501_61+91502insTATATATATATATATATATATATATATA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133458768	C C	CGTGTGTG others(21): Show CGTGTGTGTATATACACATAGATGCACGT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG01192.hp1 others(10): Show HG01071.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG02451.hp2 HG03130.hp1 HG06807.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024	a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0022 others(10): Show a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0003g0016 a0001c0001t0003g0024 a0001c0001t0005g0020 a0001c0001t0008g0010 a0001c0001t0016g0012 a0001c0001t0017g0052 a0001c0001t0022g0014 a0001c0001t0024g0021	13	68	0.1912	28	c.61+ others(45): Show c.61+73468_61+73495dupACGTGCATCTATGTGTATATACACACAC	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPCML_chr11_132409981_133537501	133483311	C C	CAGATAGA others(21): Show CAGATAGATAGATAGACAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	68	0.0147	28	c.61+ others(45): Show c.61+48952_61+48953insATCTATCTATCTGTCTATCTATCTATCT	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OPHN1_chrX_68037344_68438495	68038064	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG00099.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0020 a0001c0001t0003 a0001c0001t0020	a0001c0001t0003g0091 a0001c0001t0020g0099 a0001c0001t0003g0091 a0001c0001t0020g0099	2	155	0.0129	28	c.90 others(39): Show c.9080_*9107dupTTCTTTCTTTCTTTCTTTCTTTCTTTCT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding		4279		chrX	TogoVar
OPHN1_chrX_68037344_68438495	68125930	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG03516.hp2 others(1): Show HG02922.hp1 HG03139.hp1 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0116 others(1): Show a0001c0001t0002g0108 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0130	4	155	0.0258	28	c.127 others(47): Show c.1277-6599_1277-6598insATATATATATATATATATATATATAT AT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	15/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68125954	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02738.hp1 HG03942.hp1 others(3): Show HG01346.hp1 HG02738.hp1 HG03942.hp1 HG04115.hp1 NA18952.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0044 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0023g0037	6	155	0.0387	28	c.127 others(47): Show c.1277-6623_1277-6622insGTATATATATATATATATATATATAT AT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	15/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68125960	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0056 a0001c0001t0026g0056	1	155	0.0065	28	c.127 others(47): Show c.1277-6629_1277-6628insGTATGTATATATATATATATATATAT AT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	15/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68287156	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02818.hp2 others(7): Show HG02559.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0001t0021	a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 others(7): Show a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0111 a0001c0001t0005g0110 a0001c0001t0006g0105 a0001c0001t0007g0023 a0001c0001t0008g0112 a0001c0001t0019g0003 a0001c0001t0021g0150	10	155	0.0645	28	c.251 others(45): Show c.251-4067_251-4040dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	3/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317338	G G	GGAAAGAA others(21): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	155	0.0065	28	c.155 others(47): Show c.155-18270_155-18243dupTTTCTTTCTTTCTTTCTTTCTTTCTT TC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02451.hp1 HG02559.hp1 HG01167.hp1 HG02451.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009	a0001c0001t0006g0121 a0001c0001t0007g0023 a0001c0001t0009g0128 a0001c0001t0006g0121 a0001c0001t0007g0023 a0001c0001t0009g0128	3	155	0.0194	28	c.155 others(47): Show c.155-18281_155-18280insCCTTTCTTTCTTTCTTTCTTTCTTTC TT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	155	0.0065	28	c.155 others(47): Show c.155-18281_155-18280insCCTTCCTTTCTTTCTTTCTTTCTTTC TT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	155	0.0065	28	c.155 others(47): Show c.155-18281_155-18280insCCTTCCTTCCTTTCTTTCTTTCTTTC TT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	155	0.0065	28	c.155 others(47): Show c.155-18281_155-18280insCCTTCCTTCCTTCCTTTCTTTCTTTC TT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68317376	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	155	0.0065	28	c.155 others(47): Show c.155-18281_155-18280insCCTTCCTTCCTTCCTTCCTTTCTTTC TT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68370011	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03540.hp1 NA18966.hp1 HG02717.hp1 HG03540.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0140 a0001c0001t0002g0127 a0001c0001t0005g0136 a0001c0001t0001g0140 a0001c0001t0002g0127 a0001c0001t0005g0136	3	155	0.0194	28	c.154 others(47): Show c.154+62828_154+62855dupATATATATATATATATATATATATAT AT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68426569	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01346.hp2 HG02602.hp1 others(8): Show HG01256.hp1 HG01346.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG03209.hp1 HG03516.hp1 HG04115.hp1 NA18960.hp1 NA18965.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0023 a0001c0003t0010	a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0039 others(8): Show a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0092 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0013g0042 a0001c0001t0023g0037 a0001c0003t0010g0085	11	155	0.0710	28	c.154 others(45): Show c.154+6297_154+6298insTTATATATATATATATATATATATATAT	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPN5_chr6_47777032_47831381	47819336	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00639.hp1 others(24): Show HG00408.hp1 HG00438.hp1 HG00639.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01928.hp1 HG01928.hp2 HG02258.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02895.hp1 HG03492.hp2 HG03579.hp2 HG03704.hp2 HG04204.hp1 NA18940.hp2 NA18951.hp2 NA18970.hp2 NA19001.hp1 NA19005.hp1 NA19043.hp1 NA19072.hp1 NA19077.hp1 NA19083.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0099 others(22): Show a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0099 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0209 a0001c0001t0001g0251 a0001c0001t0001g0282 a0001c0001t0002g0007 a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0070 a0001c0001t0003g0076 a0001c0001t0003g0219 a0001c0001t0004g0153 a0001c0001t0010g0144	27	322	0.0839	28	c.105 others(47): Show c.1057-4630_1057-4629insTATATATATATATATATATATATATA TA	OPN5	ENSG00000124818.16	transcript	ENST00000371211.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRD1_chr1_28807170_28876267	28846821	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0088 a0001c0001t0026g0088	1	304	0.0033	28	c.228 others(47): Show c.228-12106_228-12105insCTTTCTTTCTTTCTTTCTTTCTTTCT TT	OPRD1	ENSG00000116329.12	transcript	ENST00000234961.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OPRD1_chr1_28807170_28876267	28846846	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0143 a0001c0002t0005g0143	1	304	0.0033	28	c.228 others(47): Show c.228-12106_228-12105insCTTTCTTTCTTTCTTTCTTTCTTTTC TT	OPRD1	ENSG00000116329.12	transcript	ENST00000234961.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OPRD1_chr1_28807170_28876267	28846846	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02083.hp2 HG00621.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0181 a0001c0001t0014g0136 a0001c0001t0002g0181 a0001c0001t0014g0136	2	304	0.0066	28	c.228 others(47): Show c.228-12106_228-12105insCTTTCTTTCTTTCTTTTCTTTCTTTC TT	OPRD1	ENSG00000116329.12	transcript	ENST00000234961.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OPRD1_chr1_28807170_28876267	28846846	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0060 a0001c0002t0035g0060	1	304	0.0033	28	c.228 others(47): Show c.228-12106_228-12105insCTTTCTTTCTTTTCTTTCTTTCTTTC TT	OPRD1	ENSG00000116329.12	transcript	ENST00000234961.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OPRD1_chr1_28807170_28876267	28873771	G G	GCTCTCTC others(21): Show GCTCTCTCGCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG02055.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0290 a0001c0002t0024g0292 a0001c0002t0024g0290 a0001c0002t0024g0292	2	304	0.0066	28	c.10 others(41): Show c.10488_*10489insCTCTCTCGCTCTCTCTCTCTCTCTCTCT	OPRD1	ENSG00000116329.12	transcript	ENST00000234961.7	protein_coding		2505		chr1	TogoVar
OPRL1_chr20_64075082_64105633	64105597	G G	GTGGATGT others(21): Show GTGGATGTGATGGGGGGTGGGCGTGATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01167.hp2 HG01169.hp2 others(8): Show HG01074.hp1 HG01167.hp2 HG01169.hp2 HG01433.hp1 HG01496.hp2 HG02074.hp1 HG02165.hp1 HG02165.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0021	a0001c0001t0002g0038 a0001c0001t0003g0007 a0001c0001t0003g0039 others(7): Show a0001c0001t0002g0038 a0001c0001t0003g0007 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0016g0043 a0001c0001t0021g0014	11	66	0.1667	28	c.67 others(39): Show c.6798_*6799insTGGATGTGATGGGGGGTGGGCGTGATGA	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		4965		chr20	TogoVar
OPTN_chr10_13095163_13143308	13114814	T T	TTATATAA others(21): Show TTATATAATTATATAATTATATATACATA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01993.hp1 HG01981.hp2 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0354 a0001c0001t0005g0044 a0001c0001t0001g0354 a0001c0001t0005g0044	2	418	0.0048	28	c.553 others(45): Show c.553-1431_553-1430insTACATATATATAATTATATAATTATATA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar

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