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
MGAM_chr7_141990879_142111747	142044995	CGTGTAAT others(71): Show CGTGTAATATATGATATATAATATGTATATTGTATACACGTGTAATATAT GATATATAATATGTATATTATATATACGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03195.hp2 HG02055.hp2 HG03195.hp2	a0004 a0004	a0004c0140 a0004c0141 a0004c0140 a0004c0141	a0004c0140t0001 a0004c0141t0001 a0004c0140t0001 a0004c0141t0001	a0004c0140t0001g0042 a0004c0141t0001g0314 a0004c0140t0001g0042 a0004c0141t0001g0314	2	316	0.0063	-78	c.249 others(97): Show c.2499-2787_2499-2710delGTAATATATGATATATAATATGTATA TTGTATACACGTGTAATATATGATATATAATATGTATATTATATATACGT GT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MIA2_chr14_39228915_39355694	39277672	TTATATAT others(71): Show TTATATATATATATATGTGTGTATATATATATATATATATATATGTGTGT ATATATATATATATATATATATGTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20805.hp1 HG00639.hp1 NA20805.hp1	a0006 a0020 a0006 a0020	a0006c0005 a0020c0030 a0006c0005 a0020c0030	a0006c0005t0002 a0020c0030t0001 a0006c0005t0002 a0020c0030t0001	a0006c0005t0002g0236 a0020c0030t0001g0283 a0006c0005t0002g0236 a0020c0030t0001g0283	2	368	0.0054	-78	c.201 others(95): Show c.2019+623_2019+700delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATATATATATATGTGTGTATATATATATATATAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIB2_chr1_1610500_1635605	1629837	CACACCCG others(71): Show CACACCCGGCCCCCCAGCCCCCAGCCCCCAGCCCCGCCTGCTCCAGATCA CACCCGGCCCACAGCCCCGCCTCAAGGTA	C C	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	412	0.0024	-78	c.262 others(95): Show c.2629+140_2629+217delGGCCCCCCAGCCCCCAGCCCCCAGCCCC GCCTGCTCCAGATCACACCCGGCCCACAGCCCCGCCTCAAGGTAACACCC	MIB2	ENSG00000197530.13	transcript	ENST00000355826.10	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MIER2_chr19_300573_349796	300935	AGACTGTG others(71): Show AGACTGTGGGACACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTGG GTCACCCAGGGCCGTGACACCAGTGACTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01106.hp1 HG01192.hp2 others(30): Show HG01071.hp2 HG01106.hp1 HG01192.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01993.hp2 HG02004.hp2 HG02300.hp2 HG02717.hp1 HG03017.hp1 HG04184.hp2 NA18941.hp2 NA18943.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18961.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19007.hp2 NA19056.hp1 NA19067.hp1 NA19081.hp2 NA19082.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0022 a0002c0004	a0001c0001t0001 a0001c0003t0002 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0003t0002 a0001c0006t0001 a0001c0022t0002 a0002c0004t0003	a0001c0001t0001g0029 a0001c0001t0001g0130 a0001c0001t0001g0174 others(29): Show a0001c0001t0001g0029 a0001c0001t0001g0130 a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0257 a0001c0001t0001g0275 a0001c0001t0001g0291 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0003t0002g0014 a0001c0003t0002g0131 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0166 a0001c0006t0001g0083 a0001c0022t0002g0309 a0002c0004t0003g0122	33	384	0.0859	-78	c.56 others(89): Show c.5677_*5754delCAGTCACTGGTGTCACGGCCCTGGGTGACCCACA GTCTCTCCAGTCACTGGTGTCACGGCCATGGGTGTCCCACAGTC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4637		chr19	TogoVar
MMP23B_chr1_1627173_1639654	1629837	CACACCCG others(71): Show CACACCCGGCCCCCCAGCCCCCAGCCCCCAGCCCCGCCTGCTCCAGATCA CACCCGGCCCACAGCCCCGCCTCAAGGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	432	0.0023	-78	c.-23 others(89): Show c.-2381_-2304delACACCCGGCCCCCCAGCCCCCAGCCCCCAGCCCC GCCTGCTCCAGATCACACCCGGCCCACAGCCCCGCCTCAAGGTA	MMP23B	ENSG00000189409.14	transcript	ENST00000356026.10	protein_coding		2335		chr1	TogoVar
MPC2_chr1_167911675_167942072	167913652	CAGAGCCC others(71): Show CAGAGCCCCCTTCAAGAGGTAGGCACTTGGTAGTTGTTGACTGATAAAAA GGAGGATATCACGTGAGAAACTGCAGAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG01361.hp2 HG02015.hp1 others(12): Show HG00408.hp1 HG01361.hp2 HG02015.hp1 HG03239.hp1 HG03688.hp2 NA18948.hp2 NA18950.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18974.hp2 NA18991.hp2 NA19066.hp2 NA19072.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0015 a0002c0003t0003 a0002c0003t0015	a0002c0003t0003g0004 a0002c0003t0003g0080 a0002c0003t0003g0081 others(4): Show a0002c0003t0003g0004 a0002c0003t0003g0080 a0002c0003t0003g0081 a0002c0003t0003g0082 a0002c0003t0003g0083 a0002c0003t0003g0084 a0002c0003t0015g0033	15	340	0.0441	-78	c.45 others(89): Show c.4593_*4670delTTTCTGCAGTTTCTCACGTGATATCCTCCTTTTT ATCAGTCAACAACTACCAAGTGCCTACCTCTTGAAGGGGGCTCT	MPC2	ENSG00000143158.11	transcript	ENST00000271373.9	protein_coding		3022		chr1	TogoVar
MPP4_chr2_201639874_201703644	201683071	CTTACATC others(71): Show CTTACATCACCCCCAGAAATGTGTGAACAGTCCATTTTTCTACCTCGTCA TAAATACTTGGCATTGACTTATGGTCATA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03579.hp1 NA19240.hp2 HG03516.hp1 HG03579.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0015 a0001c0007 a0002c0015	a0001c0007t0002 a0002c0015t0004 a0001c0007t0002 a0002c0015t0004	a0001c0007t0002g0178 a0001c0007t0002g0179 a0002c0015t0004g0177 a0001c0007t0002g0178 a0001c0007t0002g0179 a0002c0015t0004g0177	3	416	0.0072	-78	c.575 others(93): Show c.575-233_575-156delTATGACCATAAGTCAATGCCAAGTATTTAT GACGAGGTAGAAAAATGGACTGTTCACACATTTCTGGGGGTGATGTAA	MPP4	ENSG00000082126.18	transcript	ENST00000409474.8	protein_coding	7/21			chr2	TogoVar
MPPED1_chr22_43407014_43512848	43496501	AGTGGTGG others(71): Show AGTGGTGGTGGAGATGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGG TGGAGATAGTGGTGGTGGAGATGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp1 HG03209.hp1 others(5): Show HG02572.hp1 HG03098.hp1 HG03209.hp1 NA18906.hp1 NA18945.hp1 NA18981.hp1 NA19002.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0003t0002 a0001c0003t0008 a0002c0011t0001	a0001c0001t0001g0215 a0001c0001t0002g0008 a0001c0001t0005g0010 others(5): Show a0001c0001t0001g0215 a0001c0001t0002g0008 a0001c0001t0005g0010 a0001c0002t0001g0095 a0001c0003t0002g0168 a0001c0003t0008g0037 a0001c0003t0008g0194 a0002c0011t0001g0158	8	250	0.0320	-78	c.633 others(95): Show c.633-1711_633-1634delAGATGGTGGTGGTGGAGATGGTGGTGGT GGAGATAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGGAGATGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496685	GTGGTGGT others(71): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGAAGT GGTGGTGGTGGAGGTAGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0111 a0001c0002t0004g0111	1	250	0.0040	-78	c.633 others(95): Show c.633-1537_633-1460delTGGTGGTGGTGGTGGTGGTGGTAGTGGT GGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGTGATGGTGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499765	CGGTGGTG others(71): Show CGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01358.hp1 HG01433.hp1 others(2): Show HG00639.hp1 HG01358.hp1 HG01433.hp1 HG03834.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0056 a0001c0001t0002g0041 a0001c0001t0002g0042 others(2): Show a0001c0001t0001g0056 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0139 a0001c0002t0004g0072	5	250	0.0200	-78	c.748 others(95): Show c.748+1525_748+1602delATGGAGGTGGTGATGGGGGTGGTGGTGG TGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233787518	ATATATAT others(71): Show ATATATATTACATATATCATATATACATATATATTATATATACATATATA TTATATATATCATATATACATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01243.hp2 others(16): Show HG01070.hp1 HG01071.hp2 HG01243.hp2 HG02015.hp1 HG02683.hp1 HG02698.hp2 HG03490.hp2 HG04115.hp2 NA18906.hp1 NA18944.hp1 NA18946.hp1 NA18967.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA19066.hp2 NA19079.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0013 a0036 a0076 a0113	a0001c0001 a0002c0016 a0002c0020 others(11): Show a0001c0001 a0002c0016 a0002c0020 a0003c0002 a0003c0038 a0003c0105 a0004c0010 a0005c0006 a0007c0103 a0010c0080 a0013c0019 a0036c0034 a0076c0140 a0113c0091	a0001c0001t0001 a0002c0016t0001 a0002c0020t0001 others(11): Show a0001c0001t0001 a0002c0016t0001 a0002c0020t0001 a0003c0002t0001 a0003c0038t0001 a0003c0105t0001 a0004c0010t0001 a0005c0006t0001 a0007c0103t0001 a0010c0080t0001 a0013c0019t0001 a0036c0034t0001 a0076c0140t0001 a0113c0091t0001	a0001c0001t0001g0009 a0001c0001t0001g0312 a0001c0001t0001g0339 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0312 a0001c0001t0001g0339 a0002c0016t0001g0294 a0002c0020t0001g0310 a0003c0002t0001g0314 a0003c0002t0001g0316 a0003c0038t0001g0354 a0003c0105t0001g0300 a0004c0010t0001g0323 a0005c0006t0001g0322 a0005c0006t0001g0350 a0007c0103t0001g0315 a0010c0080t0001g0344 a0013c0019t0001g0301 a0036c0034t0001g0050 a0076c0140t0001g0313 a0113c0091t0001g0302	19	378	0.0503	-78	c.277 others(95): Show c.277-1969_277-1892delCATATATCATATATACATATATATTATA TATACATATATATTATATATATCATATATACATATATATATTATATATTA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	767627	GGAGGGGC others(71): Show GGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGT GGAGGAGGGGCGCGTGGAGGGGGGAGTGT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0186 a0012c0018t0001g0186	1	388	0.0026	-78	c.159 others(95): Show c.1596+159_1596+236delAGGGGCGCGTGGAGGAGGGGCGCGTGGA GGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGTGTG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MT4_chr16_56560073_56573957	56568213	GAGAAAGA others(71): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	428	0.0023	-78	c.97+ others(91): Show c.97+445_98-503delGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	MT4	ENSG00000102891.4	transcript	ENST00000219162.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
MUC4_chr3_195741771_195816929	195767736	CCATCACC others(71): Show CCATCACCATCGCCACCACCACCATCACCACCACCACCACCATCACCACC ATCATTGCCACCACCATCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0115 a0115	a0115c0043 a0115c0043	a0115c0043t0002 a0115c0043t0002	a0115c0043t0002g0125 a0115c0043t0002g0125	1	249	0.0040	-78	c.135 others(98): Show c.13530-1063_13530-986delATGGTGGTGATGATGGTGGTGGCAA TGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGCGATGGTG ATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MYBBP1A_chr17_4533904_4560384	4544136	ACTGTCCC others(71): Show ACTGTCCCCCTCCACCCCAGCACAGCCCCACTTGAGACTGTCAAGGGCAG GGATGGACCCCAGCTCCAGGGCACTGTTG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0017 a0014c0021t0017	a0014c0021t0017g0071 a0014c0021t0017g0071	1	474	0.0021	-78	c.263 others(95): Show c.2639+275_2639+352delCAACAGTGCCCTGGAGCTGGGGTCCATC CCTGCCCTTGACAGTCTCAAGTGGGGCTGTGCTGGGGTGGAGGGGGACAG	MYBBP1A	ENSG00000132382.15	transcript	ENST00000254718.9	protein_coding	19/25			chr17	TogoVar
MYCBPAP_chr17_50503439_50536501	50534063	CCTTCCTT others(71): Show CCTTCCTTTCCTCCTCCCTTCTCTGCGCTTGGGCAGGCTTCTTCCTTTCC TCCTCCCTTCTCTGCGCTTGGGCAGGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	376	0.0027	-78	c.26 others(89): Show c.2636_*2713delCTTCCTTTCCTCCTCCCTTCTCTGCGCTTGGGCA GGCTTCTTCCTTTCCTCCTCCCTTCTCTGCGCTTGGGCAGGCTT	MYCBPAP	ENSG00000136449.16	transcript	ENST00000323776.11	protein_coding		2563		chr17	TogoVar
MYDGF_chr19_4652545_4675342	4671982	CATATATT others(71): Show CATATATTCACATATGTGAATATATATATTCATATATTCACATATGTGAA TATATATTCATATATTCACATATGTGAAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18974.hp2 NA18999.hp1 others(1): Show NA18953.hp1 NA18974.hp2 NA18999.hp1 NA19059.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0116 a0002c0002t0002g0129 a0002c0002t0002g0020 a0002c0002t0002g0116 a0002c0002t0002g0129	4	410	0.0098	-78	c.-17 others(89): Show c.-1726_-1649delATTCACATATGTGAATATATGAATATATATTCAC ATATGTGAATATATGAATATATATATTCACATATGTGAATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1641		chr19	TogoVar
MYO16_chr13_108624611_109213005	108849886	CTTTTTTT others(71): Show CTTTTTTTTTTTTTAACTCATCCATACTGGGTTATTTGCGCCTAGACTGC CTTCCTCCAAATCCTGTTGAATTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp1 HG02280.hp1 HG03041.hp1	a0001 a0021 a0001 a0021	a0001c0005 a0021c0035 a0001c0005 a0021c0035	a0001c0005t0001 a0021c0035t0001 a0001c0005t0001 a0021c0035t0001	a0001c0005t0001g0069 a0021c0035t0001g0146 a0001c0005t0001g0069 a0021c0035t0001g0146	2	152	0.0132	-78	c.124 others(97): Show c.1248+5400_1249-5473delTTTTTTTAACTCATCCATACTGGGTT ATTTGCGCCTAGACTGCCTTCCTCCAAATCCTGTTGAATTTCCTCTTTTT TT	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYT1L_chr2_1784113_2336275	1805972	TCAGGAAT others(71): Show TCAGGAATTGGATGCTGTGCCTCTGTCCCCTGAAGAGCATCAGGAATTGG ATGCTGTGCCTCTGTCCCCTGAAGAGCCG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18971.hp2 HG02735.hp1 NA18971.hp2	a0001 a0001	a0001c0019 a0001c0022 a0001c0019 a0001c0022	a0001c0019t0002 a0001c0022t0016 a0001c0019t0002 a0001c0022t0016	a0001c0019t0002g0061 a0001c0022t0016g0012 a0001c0019t0002g0061 a0001c0022t0016g0012	2	104	0.0192	-78	c.317 others(97): Show c.3172+3026_3172+3103delCGGCTCTTCAGGGGACAGAGGCACAG CATCCAATTCCTGATGCTCTTCAGGGGACAGAGGCACAGCATCCAATTCC TG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	22/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64171582	TCCTCTGG others(71): Show TCCTCTGGCATCTGGAGGAACCCAAACCCTAACCCCTAACCTCTGGCATC TGGAGGAACCCAAACCCTAACTCCCTACA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01496.hp2 others(11): Show HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01516.hp2 HG01978.hp2 HG02129.hp2 HG02602.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 HG03942.hp2 HG04228.hp2 NA18971.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0003c0009	a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 a0001c0002t0018 a0001c0003t0007 a0001c0004t0004 a0001c0006t0001 a0003c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0016g0039 others(11): Show a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0016g0039 a0001c0002t0002g0032 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0018g0035 a0001c0003t0007g0217 a0001c0004t0004g0031 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0006t0001g0036 a0003c0009t0001g0041 a0003c0009t0001g0042	14	223	0.0628	-78	c.-99 others(95): Show c.-99+6979_-99+7056delCCCAAACCCTAACTCCCTACACCTCTGG CATCTGGAGGAACCCAAACCCTAACCCCTAACCTCTGGCATCTGGAGGAA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAALADL2_chr3_174854334_175815548	175132475	GCAGAGGG others(71): Show GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACTCCCGGACGGGAAGAATGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0015 a0005c0006t0015	a0005c0006t0015g0008 a0005c0006t0015g0008	1	64	0.0156	-78	c.545 others(97): Show c.545+35185_545+35262delCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACTCCCGGACGGGAAGAATGGCCGG GC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13			chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175454759	CTGATATC others(71): Show CTGATATCCTAGCCCACCATATTTTTAGTAAGCAAAATCTTCTCTTCCTT TCCATCCATTTATTTCCTGGCAGCAAATA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0043 a0008c0018t0001g0043	1	64	0.0156	-78	c.123 others(97): Show c.1234+7390_1234+7467delATATCCTAGCCCACCATATTTTTAGT AAGCAAAATCTTCTCTTCCTTTCCATCCATTTATTTCCTGGCAGCAAATA TG	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NBAS_chr2_15161916_15566334	15219860	GTGGCCGG others(71): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA AGCGCCCCTCACCTCCCGGATGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02723.hp2 NA18522.hp2 others(1): Show HG02258.hp1 HG02723.hp2 NA18522.hp2 NA20300.hp2	a0001 a0002 a0032 a0001 a0002 a0032	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0032c0025	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0032c0025t0001	a0001c0001t0001g0035 a0001c0003t0001g0014 a0002c0002t0001g0179 others(1): Show a0001c0001t0001g0035 a0001c0003t0001g0014 a0002c0002t0001g0179 a0032c0025t0001g0003	4	224	0.0179	-78	c.623 others(95): Show c.6237-970_6237-893delGCCGCCCCATCCGGGAGGTGAGGGGCGC TTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	47/51			chr2	TogoVar
NEU4_chr2_241804193_241822413	241807329	CCACCTTC others(71): Show CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCT CCCCCCTCACGCCAGGGACCCGGGAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01192.hp1 others(5): Show HG00738.hp2 HG00741.hp1 HG01192.hp1 HG02027.hp2 HG02148.hp2 HG02970.hp1 HG03130.hp1 NA18940.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0018 a0001c0001 a0001c0002 a0004c0018	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0004c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0038 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0002t0001g0017 a0004c0018t0001g0022	8	319	0.0251	-78	c.-19 others(89): Show c.-1948_-1871delCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1863		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807934	CTCCCTCC others(71): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA18952.hp2 NA18959.hp2 HG03486.hp1 NA18952.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0002t0001g0119 a0001c0001t0001g0003 a0001c0002t0001g0119	3	319	0.0094	-78	c.-13 others(89): Show c.-1343_-1266delTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1258		chr2	TogoVar
NGB_chr14_77260483_77276206	77269723	TCTCTTCT others(71): Show TCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCCTCTCCCTCTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	366	0.0027	-78	c.90- others(91): Show c.90-475_90-398delGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269725	TCTTCTCT others(71): Show TCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCCCTCTCCCTCTCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01943.hp2 HG02015.hp1 others(12): Show HG00639.hp2 HG01943.hp2 HG02015.hp1 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02738.hp1 HG03017.hp2 HG03041.hp2 HG03453.hp1 HG03492.hp1 HG03710.hp1 NA18747.hp1 NA18942.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0030 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0083 a0001c0001t0001g0135	15	366	0.0410	-78	c.90- others(91): Show c.90-477_90-400delGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232905910	CGCCCGGC others(71): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCACCTCTGCCTGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03927.hp2 HG01884.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0023 a0001c0005t0007 a0001c0001t0023 a0001c0005t0007	a0001c0001t0023g0011 a0001c0005t0007g0025 a0001c0001t0023g0011 a0001c0005t0007g0025	2	362	0.0055	-78	c.829 others(97): Show c.829-11072_829-10995delAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCAGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NIPBL_chr5_36871769_37071413	37013195	CGGGGCGG others(71): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGCGCGGC CGGGCAGAGGCGCCCCTCACCTCGCGGAT	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	328	0.0031	-78	c.456 others(97): Show c.4561-1474_4561-1397delGGGCAGAGGGGCTCCTCACTTCCCAG TAGGCGCGGCCGGGCAGAGGCGCCCCTCACCTCGCGGATGGGGCGGCTGG CC	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	21/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NRIP3_chr11_8975576_9009001	8978388	CGCCCGGC others(71): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01943.hp2 HG02109.hp2 others(7): Show HG01109.hp2 HG01943.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG03139.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0019 a0001c0001t0022 a0001c0001t0012 a0001c0001t0019 a0001c0001t0022	a0001c0001t0012g0042 a0001c0001t0012g0058 a0001c0001t0012g0059 others(6): Show a0001c0001t0012g0042 a0001c0001t0012g0058 a0001c0001t0012g0059 a0001c0001t0012g0061 a0001c0001t0019g0072 a0001c0001t0019g0073 a0001c0001t0019g0222 a0001c0001t0022g0282 a0001c0001t0022g0283	10	406	0.0246	-78	c.50 others(89): Show c.5079_*5156delAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding		2187		chr11	TogoVar
NRXN3_chr14_78165373_79873291	79845797	GGAGACGG others(71): Show GGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGAGGGAGACGGGGAGAG AGAGGGAGACGGGGAGAGAGAGAGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG01109.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0003 a0001c0001t0003 a0001c0009t0003	a0001c0001t0003g0013 a0001c0009t0003g0017 a0001c0001t0003g0013 a0001c0009t0003g0017	2	24	0.0833	-78	c.409 others(99): Show c.4094-15540_4094-15463delCGGGGAGAGAGAGGGAGACGGGGA GAGAGAGGGAGACGGGGAGAGAGAGGGAGACGGGGAGAGAGAGAGATGGA GAGA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NTN5_chr19_48656407_48678017	48669246	CCATCACC others(71): Show CCATCACCACCACCACGACCATCATCACCACCACCACCATCACCACCACC ATCACCACCACCACCATCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	412	0.0024	-78	c.631 others(95): Show c.631+1032_631+1109delATGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGATGGTGGTGGTGGTGATGATGGTCGTGGTGGTGGTGATG	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
OMA1_chr1_58475719_58551726	58517858	TCTGGTCA others(71): Show TCTGGTCAATGTCTTCTTAAAGCCTTATCTTAAGAAAGTGAGTATCAGGC CGGGCACAGTGGCTCACACCTGTAATCCC	T T	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	384	0.0026	-78	c.121 others(97): Show c.1215+9325_1215+9402delGGGATTACAGGTGTGAGCCACTGTGC CCGGCCTGATACTCACTTTCTTAAGATAAGGCTTTAAGAAGACATTGACC AG	OMA1	ENSG00000162600.12	transcript	ENST00000371226.8	protein_coding	7/8			chr1	TogoVar
OR1F1_chr16_3183204_3211556	3197959	AGGAGAGG others(71): Show AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG02559.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0067 a0001c0001t0002g0068	2	328	0.0061	-78	c.-12 others(95): Show c.-12-6234_-12-6157delAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR2B11_chr1_247444182_247463104	247458427	TGTGTGTG others(71): Show TGTGTGTGTGTGTGTTGAACTCTTTAGGGCTGGTGCATGGTGTGTGTGTG TGTTGAACTCTTTAGGGCTGGTGCGTGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0049 a0002c0001t0049	a0002c0001t0049g0122 a0002c0001t0049g0122	1	478	0.0021	-78	c.-39 others(89): Show c.-3949_-3872delGCCACGCACCAGCCCTAAAGAGTTCAACACACAC ACACACCATGCACCAGCCCTAAAGAGTTCAACACACACACACAC	OR2B11	ENSG00000177535.10	transcript	ENST00000641149.2	protein_coding		324		chr1	TogoVar
OR2M3_chr1_248192265_248217925	248213417	ATATATAT others(71): Show ATATATATGTATATATATATATGTATATATATATATGTATATATATATAT GTATATATATATATGTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0007 a0001c0002t0010g0007	2	410	0.0049	-78	c.94 others(89): Show c.9412_*9489delTATATATGTATATATATATATGTATATATATATA TGTATATATATATATGTATATATATATATGTATATATATATATG	OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding		493		chr1	TogoVar
OR2M3_chr1_248192265_248217925	248213443	ATATATAT others(71): Show ATATATATATGTATATATATATATGTATATATATATATGTATATATATAT ATGTATATATATATTTATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0033 a0004c0007t0033	a0004c0007t0033g0033 a0004c0007t0033g0033	1	410	0.0024	-78	c.94 others(89): Show c.9438_*9515delTATATATATGTATATATATATATGTATATATATA TATGTATATATATATATGTATATATATATTTATATATATATATG	OR2M3	ENSG00000228198.3	transcript	ENST00000641626.1	protein_coding		519		chr1	TogoVar
OR2T11_chr1_248618557_248640091	248637509	TACAGACA others(71): Show TACAGACAGACAGGCAGGACTCATGATCACAGGTTAACAATAGAGACAGG CAGGACTCAATCACGTGTTAGCAATACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	314	0.0032	-78	c.-26 others(89): Show c.-2694_-2617delCTGTATTGCTAACACGTGATTGAGTCCTGCCTGT CTCTATTGTTAACCTGTGATCATGAGTCCTGCCTGTCTGTCTGT	OR2T11	ENSG00000279301.5	transcript	ENST00000641193.1	protein_coding		2419		chr1	TogoVar
OR2T35_chr1_248631356_248650278	248637509	TACAGACA others(71): Show TACAGACAGACAGGCAGGACTCATGATCACAGGTTAACAATAGAGACAGG CAGGACTCAATCACGTGTTAGCAATACAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01361.hp1 HG00733.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0072 a0001c0001t0010g0041 a0001c0001t0010g0072	2	309	0.0065	-78	c.70 others(87): Show c.700_*777delCTGTATTGCTAACACGTGATTGAGTCCTGCCTGTCT CTATTGTTAACCTGTGATCATGAGTCCTGCCTGTCTGTCTGT	OR2T35	ENSG00000177151.5	transcript	ENST00000641268.1	protein_coding	2/2	700		chr1	TogoVar
OR6B2_chr2_240024491_240035429	240031501	TCCCCAAA others(71): Show TCCCCAAAACAAAAGCAATAAGAACCCCTGCCATTAAAGGGGTCTCAAGA TGTGAGTCTGAATGTAGCCTCTCTAGACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	464	0.0022	-78	c.-11 others(89): Show c.-1150_-1073delTGTCTAGAGAGGCTACATTCAGACTCACATCTTG AGACCCCTTTAATGGCAGGGGTTCTTATTGCTTTTGTTTTGGGG	OR6B2	ENSG00000182083.8	transcript	ENST00000319423.5	protein_coding		1073		chr2	TogoVar
OSBPL10_chr3_31655825_31986262	31812740	AAGAAAGA others(71): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	186	0.0054	-78	c.729 others(97): Show c.729+17222_729+17299delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OSBPL1A_chr18_24157052_24402824	24315774	AATAAAAA others(71): Show AATAAAAAATATAATATAATATATAGTATATATTATATAATAAAATATAT AATATATAGTATATATTATATAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	206	0.0049	-78	c.870 others(95): Show c.870+1297_870+1374delATTTTATTATATAATATATACTATATAT TATATATTTTATTATATAATATATACTATATATTATATTATATTTTTTAT	OSBPL1A	ENSG00000141447.19	transcript	ENST00000319481.8	protein_coding	11/27			chr18	TogoVar
PAAF1_chr11_73871999_73936114	73897026	GGGCTCCT others(71): Show GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCAGAGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp1 HG02976.hp2 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0059 a0002c0002t0002g0060	2	370	0.0054	-78	c.283 others(95): Show c.283-2067_283-1990delAGACGGGGCGGCTGGCCGGGCAGAGTGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAIP1_chr5_43521267_43562077	43522349	GGCCAGCC others(71): Show GGCCAGCCGCCCCGCCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01515.hp1 HG01517.hp2 HG00733.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0132 a0001c0001t0002g0143 a0001c0001t0002g0144	3	350	0.0086	-78	c.49 others(89): Show c.4949_*5026delTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCGGGCGGGGCGGCTGGC	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding		3917		chr5	TogoVar
PALMD_chr1_99641113_99699535	99683019	GGAAAGAA others(71): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01261.hp1 others(2): Show HG00280.hp2 HG00438.hp2 HG01261.hp1 HG02004.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0237	5	380	0.0132	-78	c.252 others(95): Show c.252-3618_252-3541delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAQR5_chr15_69293912_69412780	69300870	TTTCTTTC others(71): Show TTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTC TCTCTCTCTCTCTCTCTCTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	284	0.0035	-78	c.-27 others(97): Show c.-277+1840_-277+1917delCCTTCCTTCCTTCCTTCCTTTCTCTC TCTCTCTCTCTCTCTCTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTC TT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARP3_chr3_51937363_51953867	51952430	ATATGAAA others(71): Show ATATGAAATACCACAGCAGGTAGGGAAAGTGCCGGGAAGAAAAATAAAGC AGGATAAAAGGATTTGAGTGATGGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0003 a0001c0010t0001g0003	1	380	0.0026	-78	c.39 others(89): Show c.3951_*4028delTATGAAATACCACAGCAGGTAGGGAAAGTGCCGG GAAGAAAAATAAAGCAGGATAAAAGGATTTGAGTGATGGGAAGG	PARP3	ENSG00000041880.15	transcript	ENST00000398755.8	protein_coding		3564		chr3	TogoVar
PARVB_chr22_44019302_44177939	44112884	CTAAATAA others(71): Show CTAAATAAGGCCCTGTACCAACACAGATACATTGTTACTAACTAAGGCCC TGCACCAACACAGATACGTTGTTACTAAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01069.hp1 others(21): Show HG00280.hp1 HG00323.hp2 HG01069.hp1 HG01243.hp1 HG01516.hp1 HG01884.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0025 a0001c0028 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0034 a0001c0001t0042 a0001c0001t0068 a0001c0001t0087 a0001c0002t0021 a0001c0002t0071 a0001c0008t0002 a0001c0025t0015 a0001c0028t0015 a0002c0003t0001 a0002c0003t0028 a0003c0006t0006 a0003c0006t0013 a0003c0006t0054	a0001c0001t0001g0282 a0001c0001t0003g0080 a0001c0001t0003g0120 others(21): Show a0001c0001t0001g0282 a0001c0001t0003g0080 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0008g0045 a0001c0001t0009g0086 a0001c0001t0009g0155 a0001c0001t0009g0193 a0001c0001t0010g0087 a0001c0001t0010g0107 a0001c0001t0034g0156 a0001c0001t0042g0186 a0001c0001t0068g0329 a0001c0001t0087g0330 a0001c0002t0021g0074 a0001c0002t0071g0170 a0001c0008t0002g0032 a0001c0025t0015g0106 a0001c0028t0015g0102 a0002c0003t0001g0051 a0002c0003t0028g0331 a0003c0006t0006g0136 a0003c0006t0013g0122 a0003c0006t0054g0113	24	332	0.0723	-78	c.274 others(95): Show c.274-6150_274-6073delATAAGGCCCTGTACCAACACAGATACAT TGTTACTAACTAAGGCCCTGCACCAACACAGATACGTTGTTACTAAGTAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PAXBP1_chr21_32728899_32776755	32771842	TGGAGAAA others(71): Show TGGAGAAAGAGAGAGAGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	360	0.0028	-78	c.-25 others(87): Show c.-252_-175delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCACTCTCTCTCTTTCTCC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		88		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771871	AGAGAGAG others(71): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01346.hp1 others(6): Show HG00639.hp1 HG00642.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG03654.hp1 HG04184.hp1 NA18952.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0073 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0073 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0173 a0001c0001t0001g0229	9	360	0.0250	-78	c.-28 others(87): Show c.-281_-204delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		117		chr21	TogoVar

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