Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AHRR_chr5_316714_443285	343429	C C	CGGGGGTG others(31): Show CGGGGGTGACGGGAACACGGGACCCCGCGTACCTTCTCG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0021 a0011c0013t0001g0021	1	266	0.0038	38	c.-10 others(53): Show c.-10-459_-10-422dupGTGACGGGAACACGGGACCCCGCGTACCTT CTCGGGGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	394247	C C	CCTCCCCT others(31): Show CCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 NA20129.hp1 HG02965.hp1 HG03195.hp1 NA20129.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0018 a0001c0001 a0013c0018	a0001c0001t0001 a0001c0001t0017 a0013c0018t0017 a0001c0001t0001 a0001c0001t0017 a0013c0018t0017	a0001c0001t0001g0025 a0001c0001t0017g0264 a0013c0018t0017g0265 a0001c0001t0001g0025 a0001c0001t0017g0264 a0013c0018t0017g0265	3	205	0.0146	38	c.351 others(57): Show c.351+17557_351+17558insGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGA		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	394274	A A	ACCCTCTT others(31): Show ACCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0147 a0005c0005t0014g0147	1	170	0.0059	38	c.351 others(57): Show c.351+17900_351+17937dupGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGA		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	394618	C C	CCTCTTGT others(31): Show CCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01109.hp1 others(10): Show HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG02683.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0006 a0002c0002t0019 a0003c0004t0004 others(2): Show a0002c0002t0006 a0002c0002t0019 a0003c0004t0004 a0003c0004t0016 a0003c0004t0028	a0002c0002t0006g0007 a0002c0002t0019g0009 a0003c0004t0004g0002 others(8): Show a0002c0002t0006g0007 a0002c0002t0019g0009 a0003c0004t0004g0002 a0003c0004t0004g0003 a0003c0004t0004g0004 a0003c0004t0004g0005 a0003c0004t0004g0008 a0003c0004t0004g0011 a0003c0004t0016g0001 a0003c0004t0028g0006 a0003c0004t0028g0217	13	261	0.0498	38	c.351 others(57): Show c.351+17937_351+17938insGCTCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGA		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	398140	T T	TTAGCCCC others(31): Show TTAGCCCCTGACCATCCACATAGCTCCTGACCATCCACG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01358.hp1 HG01515.hp2 HG01070.hp2 HG01358.hp1 HG01515.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0056 a0002c0002t0010 a0003c0004t0028 a0001c0001t0056 a0002c0002t0010 a0003c0004t0028	a0001c0001t0056g0175 a0002c0002t0010g0015 a0003c0004t0028g0217 a0001c0001t0056g0175 a0002c0002t0010g0015 a0003c0004t0028g0217	3	259	0.0116	38	c.352 others(57): Show c.352-15186_352-15185insATAGCTCCTGACCATCCACGTAGCCC CTGACCATCCAC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	47	0.0213	38	c.135 others(53): Show c.135+477_135+478insAAAAAAAATATATATATATATATATATATA TATATATA		AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAATATA others(31): Show AAAATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	47	0.0213	38	c.135 others(53): Show c.135+477_135+478insAATATACATATATATATATATATATATATA TATATATA		AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AATATATA others(31): Show AATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0332 a0001c0001t0002g0332	1	47	0.0213	38	c.135 others(53): Show c.135+483_135+484insCATATATATATATATATATATATATATATA TATATATA		AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
AK3_chr9_4704556_4746202	4735314	T T	TATATATA others(31): Show TATATATACATAAATAAATATATATATATACATATATAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	429	0.0023	38	c.151 others(55): Show c.151+5622_151+5623insTTATATATGTATATATATATATTTATTT ATGTATATAT		AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4						chr9	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATAAAATATATATGT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0149 a0001c0001t0003g0149	1	137	0.0073	38	c.891 others(57): Show c.891+27011_891+27012insTATATATATATATATAAAATATATAT GTTATATATATA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATAATATATATGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02280.hp2 HG03098.hp2 others(5): Show HG00323.hp1 HG02280.hp2 HG03098.hp2 HG03139.hp1 HG03942.hp1 NA18988.hp1 NA19002.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0006 a0001c0001 a0002c0002 a0002c0006	a0001c0001t0003 a0001c0001t0024 a0002c0002t0005 others(2): Show a0001c0001t0003 a0001c0001t0024 a0002c0002t0005 a0002c0002t0013 a0002c0006t0020	a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0178 others(5): Show a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0178 a0001c0001t0024g0234 a0002c0002t0005g0151 a0002c0002t0005g0162 a0002c0002t0013g0197 a0002c0006t0020g0090	8	144	0.0556	38	c.891 others(57): Show c.891+27011_891+27012insTATATATATATATATATAATATATAT GTTATATATATA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTATATATGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	137	0.0073	38	c.891 others(57): Show c.891+27011_891+27012insTATATATATATATATATATTATATAT GTTATATATATA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77367840	T T	TATATTAT others(31): Show TATATTATATATAATATATGTTATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03704.hp2 HG02738.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0216 a0001c0001t0007g0213 a0001c0001t0001g0216 a0001c0001t0007g0213	2	221	0.0090	38	c.891 others(57): Show c.891+27276_891+27277insTATATATAATATATGTTATATATATA TATATAACATAT		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77475427	A A	ATATATAT others(31): Show ATATATATGTATATATATTATATATATACAAATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0141 a0002c0002t0011g0141	1	282	0.0035	38	c.106 others(57): Show c.1060-7844_1060-7807dupGTATATATATTATATATATACAAATA TATATTATATAT		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18948.hp1 NA18974.hp1 others(2): Show HG02155.hp1 NA18948.hp1 NA18974.hp1 NA18979.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0103 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0129 a0001c0001t0001g0215	5	35	0.1429	38	c.499 others(55): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA		AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr14	TogoVar
AK8_chr9_132720578_132883284	132748292	C C	CTCTCAGT others(31): Show CTCTCAGTCTCTTATCAAACCCCCCATATCACTGTGGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02145.hp1 HG02809.hp2 HG01167.hp2 HG02145.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196	3	264	0.0114	38	c.112 others(59): Show c.1122-20796_1122-20759dupTTCCACAGTGATATGGGGGGTTTG ATAAGAGACTGAGA		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	11/12						chr9	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GAGATATA others(31): Show GAGATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0173 a0003c0003t0003g0173	1	29	0.0345	38	c.33+ others(55): Show c.33+12447_33+12448insGATATATATATATATATATATATATATA TATATATATA		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATAGA others(31): Show GATATAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03831.hp2 HG04115.hp1 others(2): Show HG00609.hp1 HG03831.hp2 HG04115.hp1 NA18940.hp2 NA18944.hp2	a0002 a0022 a0032 a0002 a0022 a0032	a0002c0001 a0022c0069 a0032c0034 a0002c0001 a0022c0069 a0032c0034	a0002c0001t0002 a0022c0069t0002 a0032c0034t0007 a0002c0001t0002 a0022c0069t0002 a0032c0034t0007	a0002c0001t0002g0020 a0002c0001t0002g0188 a0002c0001t0002g0238 others(2): Show a0002c0001t0002g0020 a0002c0001t0002g0188 a0002c0001t0002g0238 a0022c0069t0002g0253 a0032c0034t0007g0191	5	33	0.1515	38	c.33+ others(55): Show c.33+12451_33+12452insGATATATATATATATATATATATATATA TATATATATA		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85498199	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0003 a0019c0023t0003	a0019c0023t0003g0183 a0019c0023t0003g0183	1	29	0.0345	38	c.33+ others(55): Show c.33+12474_33+12475insATATATATATATATATATATATATATAT ATATATATAT		AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36					INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP17A_chrX_1586604_1607520	1596768	C C	CTTCCTTC others(31): Show CTTCCTTCTCCATCACTCCCACCCTCCTAGTGAGGTGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG03453.hp2 others(1): Show HG02809.hp2 HG02818.hp1 HG03453.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0070 others(1): Show a0002c0003t0001g0068 a0002c0003t0002g0013 a0002c0003t0002g0070 a0002c0003t0002g0106	4	147	0.0272	38	c.911 others(55): Show c.911+1236_911+1237insTTCCTTCTCCATCACTCCCACCCTCCTA GTGAGGTGGA		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4						chrX	TogoVar
AKAP17A_chrX_1586604_1607520	1596769	C C	CTCCTTCT others(31): Show CTCCTTCTCCATCCCTCCCACCCTCCTAGTGAGGCGGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0061 a0002c0003t0006g0061	1	84	0.0119	38	c.911 others(55): Show c.911+1241_911+1242insTCTCCATCCCTCCCACCCTCCTAGTGAG GCGGAATCCT		AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
AKAP3_chr12_4610518_4654051	4624809	G G	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02486.hp2 NA18944.hp2 others(1): Show HG01515.hp2 HG02486.hp2 NA18944.hp2 NA19011.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0015 a0001c0002 a0011c0015	a0001c0002t0002 a0011c0015t0002 a0001c0002t0002 a0011c0015t0002	a0001c0002t0002g0033 a0001c0002t0002g0349 a0011c0015t0002g0267 a0001c0002t0002g0033 a0001c0002t0002g0349 a0011c0015t0002g0267	4	209	0.0191	38	c.240 others(57): Show c.2406+1686_2406+1687insACACACACACACACACACACACACAC ACACACACACAC		AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5						chr12	TogoVar
AKAP3_chr12_4610518_4654051	4624824	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0328 a0001c0001t0002g0328	1	249	0.0040	38	c.240 others(57): Show c.2406+1671_2406+1672insTATACACACACACACACACACACACA CACACACACACA		AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5						chr12	TogoVar
AKAP3_chr12_4610518_4654051	4624824	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG01081.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0261 a0001c0001t0001g0117 a0001c0001t0001g0261	2	250	0.0080	38	c.240 others(57): Show c.2406+1671_2406+1672insTACACACACACACACACACACACACA CACACACACACA		AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding	5/5						chr12	TogoVar
AKAP6_chr14_32324298_32842684	32361053	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02486.hp2 HG01071.hp2 HG02486.hp2	a0002 a0003 a0002 a0003	a0002c0017 a0003c0002 a0002c0017 a0003c0002	a0002c0017t0002 a0003c0002t0001 a0002c0017t0002 a0003c0002t0001	a0002c0017t0002g0023 a0003c0002t0001g0010 a0002c0017t0002g0023 a0003c0002t0001g0010	2	124	0.0161	38	c.-35 others(57): Show c.-35+31648_-35+31649insTATATATATATATATATATATATATA TATATATATATA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATAGATA others(31): Show GATAGATAGATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0004 a0004c0018t0004	a0004c0018t0004g0041 a0004c0018t0004g0041	1	13	0.0769	38	c.-34 others(57): Show c.-34-28766_-34-28765insGATAGATATATATATATATATATATA TATATATATATA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATAGATA others(31): Show GATAGATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG03017.hp2 others(1): Show HG02280.hp1 HG02922.hp1 HG03017.hp2 NA18991.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0004 a0003c0009 a0004c0034 a0001c0004 a0003c0009 a0004c0034	a0001c0004t0007 a0001c0004t0049 a0003c0009t0011 others(1): Show a0001c0004t0007 a0001c0004t0049 a0003c0009t0011 a0004c0034t0008	a0001c0004t0007g0020 a0001c0004t0049g0146 a0003c0009t0011g0103 others(1): Show a0001c0004t0007g0020 a0001c0004t0049g0146 a0003c0009t0011g0103 a0004c0034t0008g0064	4	16	0.2500	38	c.-34 others(57): Show c.-34-28766_-34-28765insGATATATATATATATATATATATATA TATATATATATA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0096 a0002c0003t0002g0096	1	13	0.0769	38	c.-34 others(57): Show c.-34-28749_-34-28748insATATATATATATATATATATATATAT ATATATATATAT		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01346.hp1 NA18947.hp1 HG01071.hp2 HG01346.hp1 NA18947.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0046 a0003c0002t0001 a0003c0002t0003 a0001c0001t0046 a0003c0002t0001 a0003c0002t0003	a0001c0001t0046g0034 a0003c0002t0001g0010 a0003c0002t0003g0070 a0001c0001t0046g0034 a0003c0002t0001g0010 a0003c0002t0003g0070	3	35	0.0857	38	c.273 others(59): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32811255	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0037 a0010c0012t0037	a0010c0012t0037g0123 a0010c0012t0037g0123	1	67	0.0149	38	c.358 others(59): Show c.3589-10146_3589-10145insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAATA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131241599	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATACGTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18941.hp1 NA18981.hp1 others(1): Show HG02572.hp1 NA18941.hp1 NA18981.hp1 NA19062.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0008 a0001c0001 a0011c0008	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0011c0008t0006	a0001c0001t0004g0203 a0001c0001t0006g0002 a0001c0001t0011g0163 others(1): Show a0001c0001t0004g0203 a0001c0001t0006g0002 a0001c0001t0011g0163 a0011c0008t0006g0002	4	299	0.0134	38	c.850 others(57): Show c.850+21816_850+21817insATACGTATATATATGTGTGTGTGTGT GTGTGTGTGTGT		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241625	G G	GTATACGT others(31): Show GTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0100 a0002c0002t0024g0100	1	263	0.0038	38	c.850 others(57): Show c.850+21818_850+21819insATACGTATATATATGTGTGTGTGTGT GTGTGTGTGTAT		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTATACGT others(31): Show GTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG02055.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0243 a0001c0001t0009g0222 a0001c0001t0007g0243 a0001c0001t0009g0222	2	113	0.0177	38	c.850 others(57): Show c.850+21823_850+21824insCGTATATATATGTGTGTGTGTGTGTG TGTGTGTATATA		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKR1C8_chr10_5148920_5190150	5149784	T T	TTAAACTT others(31): Show TTAAACTTATGTGAATAACTATGTTGCCATAAATTAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 NA19240.hp2 HG03209.hp1 NA19240.hp2	a0004 a0010 a0004 a0010	a0004c0005 a0010c0015 a0004c0005 a0010c0015	a0004c0005t0003 a0010c0015t0003 a0004c0005t0003 a0010c0015t0003	a0004c0005t0003g0069 a0010c0015t0003g0068 a0004c0005t0003g0069 a0010c0015t0003g0068	2	406	0.0049	38	c.43 others(49): Show c.4355_*4356insTCTTAATTTATGGCAACATAGTTATTCACATAAG TTTA		AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding					4135		chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5166446	A A	ACCAACGG others(31): Show ACCAACGGAACAGAACAGAGCCCTCAGAAATAATGCCAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	406	0.0025	38	c.94- others(53): Show c.94-3464_94-3427dupGTGGCATTATTTCTGAGGGCTCTGTTCTGT TCCGTTGG		AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	1/8						chr10	TogoVar
AKT3_chr1_243494724_243855243	243527882	C C	CACACACA others(31): Show CACACACACACACACACAAGCAAGACTCCATCTCTTAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19240.hp1 HG02622.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0291 a0001c0001t0021g0287 a0001c0001t0005g0291 a0001c0001t0021g0287	2	300	0.0067	38	c.125 others(59): Show c.1252-15457_1252-15456insTTTAAGAGATGGAGTCTTGCTTGT GTGTGTGTGTGTGT		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13						chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0103 a0001c0001t0037g0103	1	19	0.0526	38	c.47- others(53): Show c.47-3787_47-3750dupTATATATATATATATATATATATATATATA TATATATA		AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13						chr1	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02004.hp1 HG02683.hp2 others(4): Show HG00408.hp1 HG02004.hp1 HG02683.hp2 HG02717.hp1 HG02897.hp1 NA18977.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0003 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0008 a0001c0003t0002	a0001c0001t0001g0089 a0001c0001t0001g0315 a0001c0002t0003g0311 others(4): Show a0001c0001t0001g0089 a0001c0001t0001g0315 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0008g0314 a0001c0003t0002g0090	7	47	0.1489	38	c.73+ others(51): Show c.73+746_73+783dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA		ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH16A1_chr19_49448225_49476050	49461433	G G	GGGGTCCA others(31): Show GGGGTCCAGATTCCTGGGTCTGAGGGAGGAGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG02486.hp2 others(1): Show HG00733.hp2 HG01109.hp1 HG02486.hp2 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0011 a0005c0011t0009 a0001c0001t0011 a0005c0011t0009	a0001c0001t0011g0080 a0005c0011t0009g0027 a0005c0011t0009g0081 a0001c0001t0011g0080 a0005c0011t0009g0027 a0005c0011t0009g0081	4	327	0.0122	38	c.578 others(53): Show c.578-185_578-184insGGTCCAGATTCCTGGGTCTGAGGGAGGAGG GGCTGGAG		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49474830	C C	CGGACAGA others(31): Show CGGACAGAGGAGGGGGAGATGGACAGAGGATGGGGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0126 a0002c0032t0002g0126	1	340	0.0029	38	c.43 others(49): Show c.4363_*4364insGGACAGAGGAGGGGGAGATGGACAGAGGATGGGG AGAT		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding					3781		chr19	TogoVar
ALDH5A1_chr6_24489969_24542207	24522478	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18947.hp1 HG01433.hp1 NA18947.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0172 a0009c0008t0001g0209 a0001c0001t0001g0172 a0009c0008t0001g0209	2	199	0.0101	38	c.101 others(55): Show c.1015-263_1015-262insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr6	TogoVar
ALLC_chr2_3653200_3707671	3690379	T T	TCCCCCTC others(31): Show TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	270	0.0037	38	c.512 others(55): Show c.512-5334_512-5333insCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOX15B_chr17_8034059_8054134	8047773	T T	TGCCACCC others(31): Show TGCCACCCAGCATGCAGCTGCCACCACCCACCTCCAAAG	frameshift_variant frameshift_variant	HIGH	NA18947.hp1 NA18947.hp1	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0009 a0026c0040t0009	a0026c0040t0009g0077 a0026c0040t0009g0077	1	468	0.0021	38	c.171 others(47): Show c.1713_1750dupACCCAGCATGCAGCTGCCACCACCCACCTCCAAAGG CC	p.Leu others(5): Show p.Leu584fs	ALOX15B	ENSG00000179593.16	transcript	ENST00000380183.9	protein_coding	13/14	1848/2697	1751/2031	584/676		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107894	A A	AAAGAAAG others(31): Show AAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	410	0.0024	38	c.168 others(55): Show c.1684+573_1684+574insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTCTTTCTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAGAGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	355	0.0028	38	c.168 others(55): Show c.1684+502_1684+503insTCTCTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	10	0.1000	38	c.297 others(57): Show c.2977-1944_2977-1943insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17						chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0131 a0001c0002t0002g0131	1	67	0.0149	38	c.-12 others(57): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATATATTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
AMPD3_chr11_10450264_10512579	10512575	A A	ACATTTTA others(31): Show ACATTTTAAAATTAGGTAATCTGAATTAAACTCAGCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	388	0.0026	38	c.66 others(49): Show c.6691_*6692insCATTTTAAAATTAGGTAATCTGAATTAAACTCAG CAAG		AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding					4997		chr11	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0273 a0001c0003t0002g0273	1	229	0.0044	38	c.139 others(59): Show c.1398+10776_1398+10777insTATATATATATAGAGAGAGAGAGA GAGAGAGAGAGAGA		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar
AMPH_chr7_38378704_38636373	38416102	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	20	0.0500	38	c.139 others(57): Show c.1398+1722_1398+1723insATATATATATATATATATATATATAT ATATATATATAT		AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20						chr7	TogoVar

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