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	status	chr	external
AP2S1_chr19_46833167_46855846	46839286	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	84	0.0119	-16	c.267 others(31): Show c.267+163_267+178delTTTTTTTTTTTTTTTT		AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	3/4					chr19	TogoVar
AP3B1_chr5_77997326_78299698	78152019	CCCCTCCC others(9): Show CCCCTCCCCCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0006 a0001c0004t0002g0006	1	224	0.0045	-16	c.147 others(35): Show c.1473+4223_1473+4238delAAGAGAAGGGGGAGGG		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/26					chr5	TogoVar
AP3B1_chr5_77997326_78299698	78152083	TTCCTTTC others(9): Show TTCCTTTCCCTTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0007 a0001c0004t0002g0007	1	224	0.0045	-16	c.147 others(35): Show c.1473+4159_1473+4174delGAGGGAAGGGAAAGGA		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/26					chr5	TogoVar
AP3B1_chr5_77997326_78299698	78166117	TCACACAC others(9): Show TCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01361.hp1 HG01496.hp2 others(13): Show HG00558.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02738.hp2 HG03704.hp1 HG03834.hp2 HG04184.hp1 NA18949.hp1 NA18961.hp1 NA18964.hp2 NA19064.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 others(13): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0002g0117	16	24	0.6667	-16	c.116 others(33): Show c.1168-461_1168-446delTGTGTGTGTGTGTGTG		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26					chr5	TogoVar
AP3B1_chr5_77997326_78299698	78174190	TCATCAAA others(9): Show TCATCAAAGTCATTCTC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	224	0.0045	-16	c.116 others(35): Show c.1167+1420_1167+1435delGAGAATGACTTTGATG		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26					chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193732	GTATATAT others(9): Show GTATATATTTTTTTATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0185 a0001c0004t0002g0185	1	223	0.0045	-16	c.787 others(35): Show c.787-12086_787-12071delTATAAAAAAATATATA		AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26					chr5	TogoVar
AP3B2_chr15_82654281_82714875	82665376	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	28	0.0357	-16	c.197 others(31): Show c.1971+65_1972-74delGTGTGTGTGTGTGTGT		AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26					chr15	TogoVar
AP3D1_chr19_2095988_2156566	2102728	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03239.hp2 HG03688.hp2 others(3): Show HG03017.hp1 HG03239.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0128 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0141 a0001c0001t0001g0345 a0001c0001t0003g0354	6	31	0.1935	-16	c.355 others(33): Show c.3553-476_3553-461delATTTATTTATTTATTT		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31					chr19	TogoVar
AP3D1_chr19_2095988_2156566	2139059	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0254 a0001c0008t0002g0254	1	159	0.0063	-16	c.97- others(29): Show c.97-361_97-346delTTTTTTTTTTTTTTTT		AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	1/31					chr19	TogoVar
AP3M1_chr10_74115255_74155828	74149267	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01943.hp1 HG00280.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0207 a0001c0001t0001g0208	2	45	0.0444	-16	c.-4+ others(31): Show c.-4+1472_-4+1487delAAAAAAAAAAAAAAAA		AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8					chr10	TogoVar
AP3M2_chr8_42148063_42176183	42162943	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0133	1	151	0.0066	-16	c.583 others(31): Show c.583+538_583+553delAAAAAAAAAAAAAAAA		AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	4/8				INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S1_chr5_115836935_115919081	115845836	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02615.hp2 others(12): Show HG02257.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 others(12): Show a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0347 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346	15	83	0.1807	-16	c.69+ others(31): Show c.69+3753_69+3768delAAAAAAAAAAAAAAAA		AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115855019	ATATCTAT others(9): Show ATATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0350 a0001c0001t0004g0350	1	239	0.0042	-16	c.70- others(33): Show c.70-11621_70-11606delATCTATCTATCTATCT		AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89844209	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02257.hp1 HG02258.hp2 others(7): Show HG01496.hp2 HG02257.hp1 HG02258.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03491.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0025	a0001c0001t0003g0078 a0001c0001t0005g0001 a0001c0001t0005g0085 others(7): Show a0001c0001t0003g0078 a0001c0001t0005g0001 a0001c0001t0005g0085 a0001c0001t0005g0088 a0001c0001t0005g0092 a0001c0001t0007g0025 a0001c0001t0008g0119 a0001c0001t0017g0020 a0001c0001t0017g0021 a0001c0001t0025g0022	10	251	0.0398	-16	c.346 others(33): Show c.346-6503_346-6488delAAGAAAGAAAGAAAGA		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5					chr15	TogoVar
AP3S2_chr15_89825599_89898994	89844257	TTCTTTCT others(9): Show TTCTTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG01109.hp2 others(27): Show HG00558.hp2 HG00639.hp2 HG01109.hp2 HG01361.hp2 HG01978.hp1 HG01993.hp2 HG02109.hp2 HG02155.hp1 HG02300.hp2 HG02602.hp2 HG02622.hp1 HG02970.hp1 HG03471.hp2 HG03491.hp2 HG03834.hp1 HG03927.hp1 NA18954.hp1 NA18954.hp2 NA18979.hp1 NA18990.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19065.hp1 NA19080.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0030	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0206 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0179 a0001c0001t0002g0183 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0233 a0001c0001t0002g0244 a0001c0001t0002g0252 a0001c0001t0002g0262 a0001c0001t0002g0271 a0001c0001t0002g0282 a0001c0001t0004g0238 a0001c0001t0004g0266 a0001c0001t0004g0270 a0001c0001t0004g0275 a0001c0001t0006g0216 a0001c0001t0006g0225 a0001c0001t0019g0217 a0001c0001t0020g0196 a0001c0001t0023g0288 a0001c0001t0030g0064	30	309	0.0971	-16	c.346 others(33): Show c.346-6551_346-6536delGAGAAAGAAAGAAAGA		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5					chr15	TogoVar
AP3S2_chr15_89825599_89898994	89844300	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00741.hp2 others(8): Show HG00280.hp2 HG00639.hp1 HG00741.hp2 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG02559.hp2 HG02970.hp2 HG03669.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0023 a0002c0002t0013 a0001c0001t0001 a0001c0001t0023 a0002c0002t0013	a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0047 others(7): Show a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0023g0288 a0002c0002t0013g0186 a0002c0002t0013g0187 a0002c0002t0013g0291	11	310	0.0355	-16	c.346 others(33): Show c.346-6594_346-6579delGGAAGGAAGGAAAGAA		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5					chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858481	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0083 a0001c0001t0005g0083	1	309	0.0032	-16	c.345 others(35): Show c.345+12978_345+12993delCTCTTTCTTTCTTTCT		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5					chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858485	AAGAAAGA others(9): Show AAGAAAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02895.hp2 others(1): Show HG02647.hp1 HG02717.hp2 HG02895.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0085 a0001c0001t0005g0087 others(1): Show a0001c0001t0005g0001 a0001c0001t0005g0085 a0001c0001t0005g0087 a0001c0001t0005g0088	4	288	0.0139	-16	c.345 others(35): Show c.345+12974_345+12989delCTCTCTCTTTCTTTCT		AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5					chr15	TogoVar
AP4E1_chr15_50903683_51010895	50919535	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01106.hp1 others(4): Show HG00099.hp1 HG00323.hp1 HG01106.hp1 HG01175.hp1 HG01433.hp2 HG02300.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0380 a0001c0001t0004g0381 a0001c0001t0004g0382 others(4): Show a0001c0001t0004g0380 a0001c0001t0004g0381 a0001c0001t0004g0382 a0001c0001t0004g0383 a0001c0001t0004g0384 a0001c0001t0004g0385 a0001c0001t0004g0386	7	170	0.0412	-16	c.346 others(33): Show c.346+3991_346+4006delATAAATAAATAAATAA		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	3/20				INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50975956	CAGAGAGA others(9): Show CAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	200	0.0050	-16	c.196 others(35): Show c.1966+7589_1966+7604delGAGAGAGAGAGAGAGA		AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	15/20				INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4S1_chr14_31020649_31101450	31049426	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0010 a0001c0001t0034g0010	1	341	0.0029	-16	c.-71 others(35): Show c.-71-16698_-71-16683delAATATATATATATATA		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02109.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0206 a0001c0001t0047g0264 a0001c0001t0001g0206 a0001c0001t0047g0264	2	180	0.0111	-16	c.-71 others(35): Show c.-71-16679_-71-16664delATATATATATATATAT		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058527	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	88	0.0114	-16	c.-71 others(33): Show c.-71-7565_-71-7550delGTGTGTGTGTGTGTGT		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31061987	CCACATTT others(9): Show CCACATTTATTCTACAT	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	344	0.0029	-16	c.-71 others(33): Show c.-71-4136_-71-4121delCATTTATTCTACATCA		AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5				INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5B1_chr11_65768898_65785976	65779948	ACAGGGCC others(9): Show ACAGGGCCTTCCTGCCC	A A	frameshift_variant frameshift_variant	HIGH	NA18955.hp1 NA18955.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0027 a0011c0015t0027	a0011c0015t0027g0030 a0011c0015t0027g0030	1	422	0.0024	-16	c.529 others(23): Show c.529_544delGGGCAGGAAGGCCCTG	p.Gly others(5): Show p.Gly177fs	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	929/6980	529/2637	177/878		chr11	TogoVar
APAF1_chr12_98640290_98740433	98653656	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	229	0.0044	-16	c.526 others(33): Show c.526+3993_526+4008delAAAAAAAAAAAAAAAA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26				INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653681	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	358	0.0028	-16	c.526 others(33): Show c.526+3999_526+4014delAAAAAAAAAATATATA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26				INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	AAAATATA others(9): Show AAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	243	0.0041	-16	c.526 others(33): Show c.526+4007_526+4022delAATATATATATATATA		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26				INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98669884	CCCCTCCC others(9): Show CCCCTCCCCTCTTCCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01884.hp2 others(2): Show HG00280.hp2 HG01109.hp1 HG01884.hp2 HG02486.hp2 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0004 a0001c0001t0013 a0005c0007t0029 a0001c0001t0004 a0001c0001t0013 a0005c0007t0029	a0001c0001t0004g0174 a0001c0001t0013g0291 a0001c0001t0013g0292 others(2): Show a0001c0001t0004g0174 a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0013g0293 a0005c0007t0029g0294	5	364	0.0137	-16	c.149 others(35): Show c.1495-1052_1495-1037delCCCCTCTTCCTGCCCT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	10/26				INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98715235	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00639.hp1 others(46): Show HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00733.hp1 HG01071.hp2 HG01074.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02071.hp1 HG02148.hp1 HG02738.hp2 HG02970.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18945.hp1 NA18949.hp1 NA18952.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA19005.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19072.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0002t0032 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0223 a0001c0001t0005g0034 a0001c0001t0005g0042 a0001c0001t0005g0044 a0001c0001t0005g0049 a0001c0001t0005g0051 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0001t0005g0068 a0001c0001t0005g0074 a0001c0001t0005g0079 a0001c0001t0005g0081 a0001c0001t0007g0061 a0001c0002t0032g0207 a0001c0010t0001g0001	49	121	0.4050	-16	c.295 others(33): Show c.2959-161_2959-146delATATATATATATATAT		APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	21/26				INFO_REALIGN_3_PRIME	chr12	TogoVar
APBA1_chr9_69422532_69677371	69501629	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG04204.hp2 NA18979.hp2 HG01074.hp2 HG04204.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0086 a0001c0001t0001g0180 a0001c0001t0006g0153 a0001c0001t0001g0086 a0001c0001t0001g0180 a0001c0001t0006g0153	3	37	0.0811	-16	c.120 others(37): Show c.1200+14366_1200+14381delGTGTGTGTGTGTGTGT		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	2/12					chr9	TogoVar
APBA1_chr9_69422532_69677371	69523481	ATATATAT others(9): Show ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02683.hp2 HG02976.hp1 others(3): Show HG02486.hp2 HG02683.hp2 HG02976.hp1 HG03834.hp1 HG04204.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0002c0002t0018	a0001c0001t0005g0150 a0001c0001t0006g0151 a0001c0001t0006g0153 others(3): Show a0001c0001t0005g0150 a0001c0001t0006g0151 a0001c0001t0006g0153 a0001c0001t0008g0069 a0001c0001t0022g0182 a0002c0002t0018g0002	6	208	0.0288	-16	c.-69 others(33): Show c.-69-6218_-69-6203delCATATATATATATATA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12					chr9	TogoVar
APBA1_chr9_69422532_69677371	69636820	AGAGAGAG others(9): Show AGAGAGAGAGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03579.hp2 HG02970.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0020 a0002c0002t0030 a0001c0001t0020 a0002c0002t0030	a0001c0001t0020g0068 a0002c0002t0030g0067 a0001c0001t0020g0068 a0002c0002t0030g0067	2	199	0.0101	-16	c.-70 others(35): Show c.-70+35317_-70+35332delCCTCCCTCTCTCTCTC		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12					chr9	TogoVar
APBA1_chr9_69422532_69677371	69636824	AGAGAGAG others(9): Show AGAGAGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02004.hp1 HG02132.hp2 others(2): Show HG01169.hp2 HG02004.hp1 HG02132.hp2 HG02300.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0154 a0001c0001t0002g0164 a0002c0002t0003g0155 others(2): Show a0001c0001t0001g0154 a0001c0001t0002g0164 a0002c0002t0003g0155 a0002c0002t0003g0193 a0002c0002t0003g0194	5	190	0.0263	-16	c.-70 others(35): Show c.-70+35313_-70+35328delCCTCCCTCCCTCTCTC		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12					chr9	TogoVar
APBA1_chr9_69422532_69677371	69636922	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0084 a0002c0002t0003g0084	1	113	0.0088	-16	c.-70 others(35): Show c.-70+35215_-70+35230delTTTCTTTCTTTCTTTC		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12					chr9	TogoVar
APBA1_chr9_69422532_69677371	69658222	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0015 a0002c0002t0023g0015	1	197	0.0051	-16	c.-70 others(35): Show c.-70+13915_-70+13930delAAGAAAGAAAGAAAGA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12					chr9	TogoVar
APBA1_chr9_69422532_69677371	69658292	CTTTCTCT others(9): Show CTTTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0016 a0001c0001t0013g0016	1	182	0.0055	-16	c.-70 others(35): Show c.-70+13845_-70+13860delAAGAGAGAGAGAGAAA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12					chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	CTCTTTCT others(9): Show CTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	106	0.0094	-16	c.-70 others(35): Show c.-70+13833_-70+13848delAAGAAAGAAAGAAAGA		APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12					chr9	TogoVar
APBA2_chr15_28880974_29123315	28969128	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0001g0053 a0002c0005t0001g0054	2	11	0.1818	-16	c.-94 others(35): Show c.-94-26585_-94-26570delCTTTCTTTCTTTCTTT		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28987725	GAGAGATA others(9): Show GAGAGATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp1 HG02630.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0041 a0002c0002t0006 a0002c0002t0041	a0002c0002t0006g0108 a0002c0002t0041g0119 a0002c0002t0006g0108 a0002c0002t0041g0119	2	102	0.0196	-16	c.-94 others(33): Show c.-94-8026_-94-8011delGAGATATATATATATA		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29039098	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0071 a0001c0001t0025g0071	1	16	0.0625	-16	c.-40 others(35): Show c.-40-14704_-40-14689delGTGTGTGTGTGTGTGT		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29055668	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0016 a0002c0006t0016	a0002c0006t0016g0099 a0002c0006t0016g0100 a0002c0006t0016g0099 a0002c0006t0016g0100	2	75	0.0267	-16	c.951 others(31): Show c.951+862_951+877delGTGTGTGTGTGTGTGT		APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14				INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26445128	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00639.hp2 others(17): Show HG00280.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp2 HG01261.hp2 HG02004.hp1 HG02132.hp1 HG02486.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG03130.hp1 HG03139.hp1 HG03491.hp1 NA18994.hp1 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0083 others(17): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0083 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0321 a0001c0001t0002g0350 a0001c0001t0003g0303 a0002c0002t0002g0265 a0002c0002t0002g0297 a0003c0003t0002g0301 a0003c0003t0002g0349	20	195	0.1026	-16	c.-1+ others(31): Show c.-1+6327_-1+6342delGAAAGAAAGAAAGAAA		APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	2/14				INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB2_chr4_40805027_41219542	40904428	CAAATAAA others(9): Show CAAATAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp2 HG02559.hp2 others(9): Show HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0005 a0001c0003 a0002c0001 a0002c0005	a0001c0003t0001 a0002c0001t0001 a0002c0001t0003 others(7): Show a0001c0003t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0014 a0002c0001t0022 a0002c0001t0029 a0002c0001t0050 a0002c0001t0054 a0002c0005t0001	a0001c0003t0001g0106 a0001c0003t0001g0159 a0002c0001t0001g0148 others(9): Show a0001c0003t0001g0106 a0001c0003t0001g0159 a0002c0001t0001g0148 a0002c0001t0003g0123 a0002c0001t0003g0151 a0002c0001t0005g0152 a0002c0001t0014g0128 a0002c0001t0022g0091 a0002c0001t0029g0002 a0002c0001t0050g0188 a0002c0001t0054g0066 a0002c0005t0001g0142	12	149	0.0805	-16	c.125 others(37): Show c.1255-11033_1255-11018delATTTATTTATTTATTT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17					chr4	TogoVar
APBB2_chr4_40805027_41219542	40907371	ATATATAT others(9): Show ATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03130.hp1 HG03471.hp1 others(1): Show HG02630.hp2 HG03130.hp1 HG03471.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0005 a0001c0003t0006 a0001c0003t0030 others(1): Show a0001c0003t0005 a0001c0003t0006 a0001c0003t0030 a0002c0005t0005	a0001c0003t0005g0131 a0001c0003t0006g0134 a0001c0003t0030g0021 others(1): Show a0001c0003t0005g0131 a0001c0003t0006g0134 a0001c0003t0030g0021 a0002c0005t0005g0076	4	182	0.0220	-16	c.125 others(37): Show c.1255-13976_1255-13961delAAAAAAAATATATATA		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17					chr4	TogoVar
APBB2_chr4_40805027_41219542	40930458	CGCGCGCG others(9): Show CGCGCGCGCGTGCGCGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0154 a0002c0001t0016g0154	1	188	0.0053	-16	c.125 others(35): Show c.1254+3982_1254+3997delACGCGCACGCGCGCGC		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	10/17					chr4	TogoVar
APBB2_chr4_40805027_41219542	40982323	AAAAGAAA others(9): Show AAAAGAAAGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0051 a0001c0004t0051	a0001c0004t0051g0141 a0001c0004t0051g0141	1	160	0.0063	-16	c.835 others(35): Show c.835+31244_835+31259delCCTTCCTTCTTTCTTT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17					chr4	TogoVar
APBB2_chr4_40805027_41219542	40982330	AGAAGGAA others(9): Show AGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0020 a0001c0004t0020	a0001c0004t0020g0161 a0001c0004t0020g0161	1	153	0.0065	-16	c.835 others(35): Show c.835+31237_835+31252delCTTCCTTCCTTCCTTC		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	6/17					chr4	TogoVar
APBB2_chr4_40805027_41219542	41027364	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02559.hp2 HG02723.hp1 others(7): Show HG00597.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp1 HG02976.hp2 HG03209.hp2 HG03540.hp2 HG03579.hp1 NA18960.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0012 a0001c0004t0020 a0001c0004t0039 others(7): Show a0001c0004t0012 a0001c0004t0020 a0001c0004t0039 a0002c0001t0001 a0002c0001t0003 a0002c0001t0005 a0002c0001t0022 a0002c0001t0025 a0002c0001t0040 a0002c0001t0044	a0001c0004t0012g0001 a0001c0004t0020g0036 a0001c0004t0039g0180 others(7): Show a0001c0004t0012g0001 a0001c0004t0020g0036 a0001c0004t0039g0180 a0002c0001t0001g0117 a0002c0001t0003g0147 a0002c0001t0005g0189 a0002c0001t0022g0091 a0002c0001t0025g0020 a0002c0001t0040g0145 a0002c0001t0044g0190	10	21	0.4762	-16	c.19+ others(31): Show c.19+5856_19+5871delATATATATATATATAT		APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	5/17					chr4	TogoVar
APC_chr5_112732885_112851239	112806552	CTTTATTT others(9): Show CTTTATTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp2 HG02622.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0014 a0001c0010 a0001c0014	a0001c0010t0007 a0001c0014t0007 a0001c0010t0007 a0001c0014t0007	a0001c0010t0007g0132 a0001c0014t0007g0133 a0001c0010t0007g0132 a0001c0014t0007g0133	2	147	0.0136	-16	c.834 others(33): Show c.834+5196_834+5211delTATTTATTTATTTATT		APC	ENSG00000134982.18	transcript	ENST00000257430.9	protein_coding	8/15				INFO_REALIGN_3_PRIME	chr5	TogoVar

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