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
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(392): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA ATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTGAGCTGA GATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTCCGTCTC AAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGGTGAGGGA GACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGGGCAACGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp2 others(11): Show HG00639.hp2 HG01361.hp2 HG01496.hp2 HG01981.hp1 HG02040.hp1 HG02735.hp1 HG02738.hp2 HG03130.hp1 HG03239.hp2 NA18747.hp1 NA18956.hp2 NA18964.hp1 NA18980.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0024 others(8): Show a0001c0002 a0001c0004 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0029 a0001c0058 a0001c0061 a0001c0062 a0003c0038	a0001c0002t0046 a0001c0004t0048 a0001c0024t0010 others(11): Show a0001c0002t0046 a0001c0004t0048 a0001c0024t0010 a0001c0024t0021 a0001c0025t0051 a0001c0026t0020 a0001c0028t0001 a0001c0028t0010 a0001c0029t0011 a0001c0029t0049 a0001c0058t0050 a0001c0061t0045 a0001c0062t0020 a0003c0038t0009	a0001c0002t0046g0125 a0001c0004t0048g0117 a0001c0024t0010g0126 others(11): Show a0001c0002t0046g0125 a0001c0004t0048g0117 a0001c0024t0010g0126 a0001c0024t0021g0124 a0001c0025t0051g0133 a0001c0026t0020g0115 a0001c0028t0001g0023 a0001c0028t0010g0127 a0001c0029t0011g0132 a0001c0029t0049g0123 a0001c0058t0050g0118 a0001c0061t0045g0116 a0001c0062t0020g0128 a0003c0038t0009g0025	14	84	0.1667	399	c.93- others(416): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCTG GCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTAA GTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGT GCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTGTATTTTTAGTA GAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTT GTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGC CACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(392): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA TAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCTG AGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTGAGCTGAG ATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTCCGTCTCA AAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGGTGAGGGA GACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGGGCAACGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG03130.hp2 HG02895.hp1 HG02896.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0037 a0001c0001 a0001c0002 a0001c0037	a0001c0001t0035 a0001c0002t0036 a0001c0037t0009 a0001c0001t0035 a0001c0002t0036 a0001c0037t0009	a0001c0001t0035g0060 a0001c0002t0036g0024 a0001c0037t0009g0059 a0001c0001t0035g0060 a0001c0002t0036g0024 a0001c0037t0009g0059	3	73	0.0411	399	c.93- others(416): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCT GGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTA AGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG TGCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTGTATTTTTAGTA GAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTT GTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGC CACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
KANK1_chr9_499695_751103	707442	A A	AGCTGCAG others(392): Show AGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAG GTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATTCCTG GAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGAC ATTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGT TTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTA ATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCT CCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGCTGCAG CTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	197	0.0051	399	c.38- others(414): Show c.38-3269_38-3268insTTCCTGGAGACAGGTCTGGCTGCTGCAGCT TCTCTCCTGTTAATGGAGTTTCAGACATTCCTGGAGACAGGTCTGGCTGC TGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTC TGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAG ACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACATT CCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTC AGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATG GAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCT GTTAATGGAGTTTCAGACA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	707593	T T	TTCCTGGA others(392): Show TTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTT TCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAA TGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTC CTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGC TTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTG CTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGT CTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGA GACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0007 a0006c0039t0007	a0006c0039t0007g0110 a0006c0039t0007g0110	1	223	0.0045	399	c.38- others(414): Show c.38-3041_38-3040insGTCCTGGAGACAGGTCTGGCTGCTGCAGCT TCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGC TGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAGACAGGTC TGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGTCCTGGAG ACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTCAGACAGT CCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATGGAGTTTC AGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCTGTTAATG GAGTTTCAGACAGTCCTGGAGACAGGTCTGGCTGCTGCAGCTTCTCTCCT GTTAATGGAGTTTCAGACA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(392): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATTATATATATTATATATTATATA TTAAATATATATTATATATATAAAATATATATAAAATATATATTATATAA AATATATATAAAATATATATTATATAAAATATATATAAAATATATATTAT ATAAAATATATATTATATATAAAATATATAATATATATAAAATATATACT ATATATAAAATATATAATATATAAAATATATACTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0069 a0001c0002t0069	a0001c0002t0069g0246 a0001c0002t0069g0246	1	201	0.0050	399	c.963 others(418): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATTATATATAT TATATATTATATATTAAATATATATTATATATATAAAATATATATAAAAT ATATATTATATAAAATATATATAAAATATATATTATATAAAATATATATA AAATATATATTATATAAAATATATATTATATATAAAATATATAATATATA TAAAATATATACTATATATAAAATATATAATATATAAAATATATACTATA TATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442656	C C	CCATCACC others(392): Show CCATCACCACCACCACCATCACCATCACCACCACCACCACCACCATCACC ACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCATCAC CACCATCACCATCATCACCATCACCATTACCACCACCATTACCACCACCA TCACCATCACCATCACCACCACCACCACCACCACCATCACCATCACCACC ACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCATCAC CACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCATCA CCACCATCACCATCACCACCATCACCATTACCACCACCATTACCACCACC ATCACCATCACCATCACCACCACCACCACCATCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp2 HG01109.hp1 HG01069.hp1 HG01074.hp2 HG01109.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0007 a0002c0001t0002 a0002c0001t0007	a0002c0001t0002g0068 a0002c0001t0007g0070 a0002c0001t0007g0071 a0002c0001t0002g0068 a0002c0001t0007g0070 a0002c0001t0007g0071	3	278	0.0108	399	c.691 others(414): Show c.691-126_691-125insATGGTGGTGGTGATGGTGATGGTGGTGGTG GTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGAT GGTGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGT GGTGGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GATGGTGGTGGTGGTGATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442773	T T	TTACCACC others(392): Show TTACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCATCA CCACCACCACCACCATCACCACCATCACCATCACCACCATTACCATCACC ATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACCAC CACCACCACCATCACCATCACCACCACCATCACCATTATCACCACCACCA TCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACCATT ATCACCACCACCATCACCACCATCACCATCACCACCATCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0053 a0002c0001t0053	a0002c0001t0053g0099 a0002c0001t0053g0099	1	196	0.0051	399	c.691 others(414): Show c.691-243_691-242insGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATGGTGATGGTAATGGTGGTGATGGTGATGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGT GGTGGTAATGGTGGTGGTA	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KCNQ2_chr20_63395208_63477655	63442833	C C	CCACCACC others(392): Show CCACCACCACCACCACCACCATCACCATCACCACCACCATCACCATTATC ACCACCACCATCACCACCATCACCACCACCACCATCACCATCACCACCAC CACCACCACCATCACCACCATCACCACCATCACCACCACCACCACCATCA CCACCATCACCATCACCACCATCACCATCACCACCATCACCATTACCACC ACCATTACCACCACCATCACCATCACCATCACCACCACCACCACCACCAT CACCATCACCACCACCATCACCATTATCACCACCACCATCACCACCATCA CCACCACCACCATCACCATCACCACCACCATCACCACCATCACCATCACC ACCATCACCATCACCATTACCACCACCATTACCACCATCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0155 a0001c0005t0010g0155	1	327	0.0031	399	c.691 others(414): Show c.691-303_691-302insATGGTGATGGTGATGGTGGTAATGGTGGTG GTAATGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGGTGGT GATGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGG TGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATG GTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTGATGGTGAT GGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGAT GGTGGTGGTGGTGGTGGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF17_chr1_20659014_20723007	20712842	A A	ATATTATC others(392): Show ATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGAT AATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATAT AGATATTATCTATATTATAGATAATATCTATAATATAGATATAGATATTA TCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAAT ATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGA TAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATA TAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTAT AATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0380 a0003c0026t0001g0380	1	410	0.0024	399	c.480 others(414): Show c.480+611_480+612insATATAGATAATATTATCTATATTATAGATA TAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATA GATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATAT TATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCT ATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATT ATCTATATTATAGATATAGATAATATCTATATCTATATTATAGATATTAT CTATAATATAGATAATATCTATATTATAGATATTATCTATAATATAGATA ATATCTATATTATAGATATTATCTATAATATAGATATAGATAATATCTAT ATCTATAATATAGATAATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(392): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGG CTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAG TTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCG CCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(40): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01515.hp2 HG02027.hp1 HG02056.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02895.hp1 HG02976.hp2 HG03239.hp2 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 NA18522.hp1 NA18962.hp1 NA18982.hp2 NA18986.hp1 NA19002.hp2 NA19011.hp2 NA19066.hp1 NA19079.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0003 a0001c0008t0004	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 others(40): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0335 a0001c0001t0008g0288 a0001c0001t0008g0290 a0001c0003t0003g0279 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0317 a0001c0008t0004g0332 a0001c0008t0004g0333	43	96	0.4479	399	c.116 others(414): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTGAGACAGAGTCTC GCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAA CCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAG GTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGAC CTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(392): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGG CTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAG TTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCG CCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTGACCAGGCTGGTCTGGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18959.hp1 HG01934.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0347 a0001c0001t0012g0057 a0001c0001t0002g0347 a0001c0001t0012g0057	2	55	0.0364	399	c.116 others(414): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTGAGACAGAGTCTC GCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAA CCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAG GTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTGGAGCTCCTGAC CTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(392): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGG CTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAG TTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCG CCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTT CACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0217	1	54	0.0185	399	c.116 others(414): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTATTATTATTATTGAGACAGAGTCTC GCTCTGTCGCCCAGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAA CCTCTGCCTCCCGAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAG GTGGGACTACAGGCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTA GTGGAGACGGGGTTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGAC CTCAGGTAAGTGCTAGAAT	LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
LINS1_chr15_100561924_100607184	100582432	T T	TACTGGGT others(392): Show TACTGGGTCTTCCATCTACACTATGGCCACTAGCCTAGTCTTGGTCTTAC ATTGGGTCTTCTGTCTACACTATGGCCCACCAGCCTAGTCTTGGTCTTAC ACTGGGTCTTCCGTCTACACTATGGCCCACTAGCCTAGTCTTGGTCTTAT ACTGGGTCTTCCATCTACAACATGGCCCACTAGCCTAGTCTTGGTCTTAC ACTGGGTCTTCCATCTACACTATGGCCCACTAGCCTAGTCTTGGTCTTAT ACTGGGTCTTCCATCTACACTATGGCCCACTAGCCTAGTCTTGGTCTTAT ACTGGGTCTTCCATCTACAACATGGCCCACTAGCCTAGTCTTGGTCTTAC ACTGGGTCTTCCATCTACAACATGGCCCACTAGCCTAGTCTTGGTCTTAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19055.hp1 NA19077.hp2 others(1): Show NA18954.hp1 NA19055.hp1 NA19077.hp2 NA19087.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0020 a0003c0003t0003g0191 a0003c0003t0003g0020 a0003c0003t0003g0191	4	428	0.0093	399	c.-10 others(418): Show c.-103-1488_-103-1487insGTAAGACCAAGACTAGGCTAGTGGGC CATGTTGTAGATGGAAGACCCAGTGTAAGACCAAGACTAGGCTAGTGGGC CATGTTGTAGATGGAAGACCCAGTATAAGACCAAGACTAGGCTAGTGGGC CATAGTGTAGATGGAAGACCCAGTATAAGACCAAGACTAGGCTAGTGGGC CATAGTGTAGATGGAAGACCCAGTGTAAGACCAAGACTAGGCTAGTGGGC CATGTTGTAGATGGAAGACCCAGTATAAGACCAAGACTAGGCTAGTGGGC CATAGTGTAGACGGAAGACCCAGTGTAAGACCAAGACTAGGCTGGTGGGC CATAGTGTAGACAGAAGACCCAATGTAAGACCAAGACTAGGCTAGTGGCC ATAGTGTAGATGGAAGACCCAGT	LINS1	ENSG00000140471.17	transcript	ENST00000314742.13	protein_coding	1/6			chr15	TogoVar
LMF1_chr16_848634_975984	857729	C C	CAGTGGTG others(392): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0005 a0003c0009t0001g0005	1	190	0.0053	399	c.153 others(418): Show c.1530-3024_1530-3023insTGCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGT CCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGA GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGA CACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT CACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(392): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT CACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGT TCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCAC TCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	356	0.0028	399	c.106 others(416): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGTGACCTGTGT GTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCT GTGTGTGCGGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGT GTGTGCGGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTG TGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGT GTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGT GTGTGCAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LRRC24_chr8_144517388_144532033	144531288	C C	CAGCAGAA others(392): Show CAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGG AGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	399	c.-43 others(410): Show c.-4389_-4388insATGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTG CTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT CGCTGCCTTTCTGCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4256		chr8	TogoVar
MAN2B2_chr4_6570189_6628362	6579295	C C	CCACCACC others(392): Show CCACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	352	0.0028	399	c.391 others(414): Show c.391+802_391+803insCCATCACCACCATCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ACCACCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(392): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAAAT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	399	c.-31 others(410): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAATTTATATATTATATAATTATATTATATATAAAT TATATATATATAATTATATATAAATTATATATTATATAATTATATTATAT TATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(392): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01070.hp2 others(47): Show HG00558.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01952.hp1 HG01993.hp1 HG02040.hp2 HG02132.hp2 HG02155.hp1 HG02300.hp2 HG02738.hp2 HG02976.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp2 NA18612.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18952.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18988.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19070.hp1 NA19078.hp1 NA19078.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	50	157	0.3185	399	c.-31 others(410): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATATATAATTATATATAAATTATATATTATATAATTATATTATAT TATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(392): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATACTTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	399	c.-31 others(410): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAAGTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATATATAATTATATATAAATTATATATTATATAATTATATTATAT TATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(392): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATTATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	399	c.-31 others(410): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATAATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATATATAATTATATATAAATTATATATTATATAATTATATTATAT TATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(392): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATTATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	399	c.-31 others(410): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATAATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATTATATAATTATATTATATATAAAT TATATATATATAATTATATATAAATTATATATTATATAATTATATTATAT TATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(392): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATTATATATATATAATTTATATATAATATAATTATATTATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATTATATAATTATATAATATATAATTTATATAT AATATAATTATATAATATATAATTTATATATAATATAATTATATAATATA TAATTTATATATAATATAATTATATAATATATAATTTATATATAATATAA TTATATAATATATAATTTATATATAATATAATTATATAATATATAATTTA TATATAATATAATTATATAATATATAATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA19058.hp2 NA18998.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	109	0.0183	399	c.-31 others(410): Show c.-3131_-3130insTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAATTATATTATATATAA ATTATATATTATATAATTATATTATATATAAATTATATATTATATAATTA TATTATATATAAATTATATATTATATAATTATATTATATATAAATTATAT ATTATATAATTATATTATATATAAATTATATATTATATAATTATATAATA TATAAATTATATATTATATAATTATATTATATATAAATTATATATTATAT AATTATATTATATATAAATTATATATAATATAATTATATTATATATAAAT TATATATATATAATTATATATAAATTATATATTATATAATTATATTATAT TATAATTATATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MFNG_chr22_37464063_37491384	37484416	A A	AGCGAGGG others(392): Show AGCGAGGGCCTCCCTGTCCTTCCACCTCCTCCTCCATCTCAGCATCCTTC CTTCTTTCAACTTCAAGGACAAGATTTCTAGAGTCTGCCCCTCACCCCTT GGGTCCGGCTGAGTGGATTCATCTCCCACTTCGGCCGAACCCTGCTCAAT GTTTGCACTGTAAGGCGGGAACATCACGGCCATCACAGCCAATCTCTGGG GCTTACTGTGAGGGTGAAACAAGCAACTCGCCTGGTCTACAGCCCTGAGC AGTGGCATAGCTGCCAGCACCCCCACTCCCACCCCACTGCCTGATTCACA TGTGGGATCGAGCTTGGGACATGAAAGGGGTTGTTCTTGCCTGCATTTGC TGGCCTGGTACTGCCAGGCACAGCCGCCCAGGCTGAAGGCCAAGGACCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp1 others(47): Show HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG02074.hp2 HG02080.hp2 HG02155.hp1 HG03669.hp1 HG04115.hp2 HG04228.hp2 NA18612.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA19056.hp2 NA19066.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0017 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141	50	288	0.1736	399	c.255 others(416): Show c.255+1506_255+1507insAGGGTCCTTGGCCTTCAGCCTGGGCGGC TGTGCCTGGCAGTACCAGGCCAGCAAATGCAGGCAAGAACAACCCCTTTC ATGTCCCAAGCTCGATCCCACATGTGAATCAGGCAGTGGGGTGGGAGTGG GGGTGCTGGCAGCTATGCCACTGCTCAGGGCTGTAGACCAGGCGAGTTGC TTGTTTCACCCTCACAGTAAGCCCCAGAGATTGGCTGTGATGGCCGTGAT GTTCCCGCCTTACAGTGCAAACATTGAGCAGGGTTCGGCCGAAGTGGGAG ATGAATCCACTCAGCCGGACCCAAGGGGTGAGGGGCAGACTCTAGAAATC TTGTCCTTGAAGTTGAAAGAAGGAAGGATGCTGAGATGGAGGAGGAGGTG GAAGGACAGGGAGGCCCTCGC	MFNG	ENSG00000100060.18	transcript	ENST00000356998.8	protein_coding	1/7			chr22	TogoVar
MLPH_chr2_237482251_237560322	237543111	G G	GGGGGATG others(392): Show GGGGGATGGTGAGTGGGCACGGTGGTGAGTGGGGACAGTGGTGAGTGGGG ACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGG GGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGAGGGACAGTGGTGAGTGGGGACAGTGGTGAGT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	282	0.0035	399	c.153 others(416): Show c.1539+455_1539+456insGATGGTGAGTGGGCACGGTGGTGAGTGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGT GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPG_chr16_73225_90846	81686	A A	ACTGACCC others(392): Show ACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCT CCAGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTC CCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCC CTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	389	0.0026	399	c.301 others(416): Show c.301-1310_301-1309insGCTGACCCCTTCTTCCCACCACCCTATC TCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCACGCTGGCC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCAC GCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGC TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAA GGCCTCCTGAATGCTCCCCAC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81686	A A	ACTGACCC others(392): Show ACTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCGGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAA GCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCT CCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCAC CCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTC CCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCC CTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	389	0.0026	399	c.301 others(416): Show c.301-1313_301-1312insGGCGCTGACCCCTTCTTCCCACCACCCT ATCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTG GCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGGCCTCCTGAATGCTCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81747	A A	ACCCCTTC others(392): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG01256.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0185 a0001c0001t0001g0042 a0001c0001t0001g0185	2	407	0.0049	399	c.301 others(416): Show c.301-1284_301-1283insTCTCCGGGAAGGCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81857	G G	GCTGACCC others(392): Show GCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGC TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAA GCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	375	0.0027	399	c.301 others(416): Show c.301-1165_301-1164insAGGAAGCCCTCCTGAATGCTCCCCACGC TGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTC CCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTG AATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGC CCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCC GGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCC TACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCC ACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCT TCTTCCCACCACCCTACCTCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	81918	A A	ACCCCTTC others(392): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAG GAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	401	0.0025	399	c.301 others(416): Show c.301-1113_301-1112insTCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAG GAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGG CCCCTTCTTCCCACCACCCTA	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82168	T T	TCTCCGGG others(392): Show TCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAAT GCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCT CCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	134	0.0075	399	c.301 others(414): Show c.301-874_301-873insGCCTCCTGAATGCTCCCCACACTGACCCCT TCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCT GACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCC CCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGA ATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGC CTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCG GGAAGCCCTCCTGAATGCTCCCCACGCTGACCCCTTCTTCCCACCACCCT ATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCA others(392): Show GCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCT CCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGG AAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTAC CTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACC ACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCT TCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGAC CCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCG CGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	135	0.0074	399	c.301 others(414): Show c.301-799_301-798insACGCTGGCCCCTTCTTCCCACCACCCTACC TCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCA CCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTT CCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCC CCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGC GCTGACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGC TCCCCACACTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCC TGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPPED1_chr22_43407014_43512848	43500145	G G	GCAGTGAT others(392): Show GCAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGA TGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGG AGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTG GTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGAGGGAGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	147	0.0068	399	c.748 others(416): Show c.748+1795_748+1796insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGT GGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGG TGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATG GTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGGGGT GGTGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGG TGGTGGTGAGGGAGGTGGTGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500175	G G	GTGGCAGT others(392): Show GTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGT GGTGGTGGTGATGGGGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTG GTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGG TGGTGATGGTGGAGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTG GTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTGAT GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	235	0.0043	399	c.748 others(416): Show c.748+1828_748+1829insCAGTGATGATGGTGGTGATGGTGATGGA GGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTG GTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGATGGAGGTGGTGATGGTGGAGGTGGTGGTGATGGTGATG GAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGAT GGTGATGGAGGTGGTGATGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGCAGTGATGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767547	G G	GGGGGGGG others(392): Show GGGGGGGGCCAGTGGAGGAGGGGCGAGTGGGAGGAGGGGCGCGTGGAGGG GGGGCGTGTGGGGGGGTGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGA GGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGG AGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTG GAGGAGGGGCGCGTGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGG GGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGT GGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	385	0.0026	399	c.159 others(414): Show c.1596+83_1596+84insGCCAGTGGAGGAGGGGCGAGTGGGAGGAGG GGCGCGTGGAGGGGGGGCGTGTGGGGGGGTGCGTGGAGGGGGGAGCGTGG GGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAG GAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGG AGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCATGGGGGGGT GTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGG GGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTG GAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGG GGGGGCACGTGGAGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(392): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATAATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATAATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	117	0.0085	399	c.51 others(410): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATATAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATTATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATAAT ATATATTTTATATTATATATATTATATATAATATAATATATATTATATAT AATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(392): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATAATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 NA18945.hp1 others(8): Show HG00438.hp1 HG00621.hp1 NA18945.hp1 NA18971.hp1 NA18990.hp1 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19012.hp1 NA19086.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	11	127	0.0866	399	c.51 others(410): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATATAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATAAT ATATATTATATATTATATATATTATATATAATATAATATATATTATATAT AATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(392): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18968.hp2 NA19064.hp1 HG00597.hp2 NA18968.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0047 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0047	3	119	0.0252	399	c.51 others(410): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATATAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATAAT ATATATTTTATATAATATATATTATATATAATATAATATATATTATATAT AATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110905917	A A	ATATATAA others(392): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATATAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATAATATATATTATATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATAATATATATTTTATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02922.hp1 NA19043.hp1 HG02258.hp2 HG02922.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0001 a0001c0001t0001g0024	3	119	0.0252	399	c.51 others(410): Show c.5159_*5160insATATAATATATATTTTATATAATATATATTATAT ATAATATAATATATATTTTATAAAATATATATTATATAATATAATATATA TTTTATAAAATATATATTATATAATATAATATATATTTTATATAATATAT ATTATATAATATAATATATATTTTATATAATATATATTATATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT ATAATATATATTATATATAATATAATATATATTTTATATAATATATATTA TATATAATATAATATATATTTTATATAATATATATTATATATAATATAAT ATATATTATATATAATATATATTATATATAATATAATATATATTATATAT AATATATATTATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4927		chr12	TogoVar
MYL2_chr12_110905845_110925579	110906014	A A	ATATATTA others(392): Show ATATATTATATTATATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTATATAATATATATTATATTATATATAATATATATT ATATAAAATATATATTATATTATATAATATATATTATATAAAATATATAT TATATTATATATAATATATATTTTATAAAATATATATTATATTATATAAT ATATATTTTATAAAATATATATTATATTATATATTATATAAAATATATAT TATTAAAATATATATTATATTATATAATATATATTATATAAAATATATAT TATATTATATAATATATATTATATAAAATATATATTATATTATTATAATA TATATTATATAATATAATATATATTATATATTATAATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	365	0.0027	399	c.50 others(410): Show c.5062_*5063insATATATATTATATATTATAATATATAATATATAT TATATTATATAATATATATTATAATAATATAATATATATTTTATATAATA TATATTATATAATATAATATATATTTTATATAATATATATTATATAATAT AATATATATTTTAATAATATATATTTTATATAATATATAATATAATATAT ATTTTATAAAATATATATTATATAATATAATATATATTTTATAAAATATA TATTATATATAATATAATATATATTTTATATAATATATATTATATAATAT AATATATATTTTATATAATATATATTATATATAATATAATATATATTATA TAATATATATTATATATAATATAATATATATTTTATATAATATATATTAT ATATAATATAATATA	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4830		chr12	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(392): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCT TTCCTTCCCTCCTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG02257.hp2 others(19): Show HG00140.hp2 HG00438.hp1 HG02257.hp2 HG02280.hp1 HG02735.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 NA18990.hp2 NA19009.hp2 NA19012.hp2 NA19065.hp1 NA19065.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0026	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 others(12): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0024 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0004t0007 a0001c0004t0011 a0001c0004t0012 a0001c0007t0005 a0001c0026t0004	a0001c0001t0007g0031 a0001c0002t0001g0046 a0001c0002t0001g0060 others(19): Show a0001c0001t0007g0031 a0001c0002t0001g0046 a0001c0002t0001g0060 a0001c0002t0001g0072 a0001c0002t0001g0089 a0001c0002t0002g0033 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0054 a0001c0002t0003g0004 a0001c0002t0005g0024 a0001c0002t0006g0008 a0001c0002t0024g0104 a0001c0004t0001g0040 a0001c0004t0001g0083 a0001c0004t0003g0002 a0001c0004t0006g0001 a0001c0004t0007g0035 a0001c0004t0011g0066 a0001c0004t0012g0020 a0001c0007t0005g0080 a0001c0026t0004g0019	22	39	0.5641	399	c.153 others(416): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAG GGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGG GAGGGAGGGAGGGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(392): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCCCCACCCACCCACCCAGCCCCACCC CACTCATCGACCCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTAC CCTCTTCCCCACCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACC CAGCCCCACCCTATTCCTCCCCACCCACCCACCCAGCCCCACCCTATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG03688.hp1 HG02602.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0000 a0002c0003t0002g0000 a0001c0001t0002g0000 a0002c0003t0002g0000	2	300	0.0067	399	c.-15 others(410): Show c.-1532_-1531insGGAATAGGGTGGGGCTGGGTGGGTGGGTGGGGAG GAATAGGGTGGGGCTGGGTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGG GTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGA GCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGGGTGGGGAAGAAGCG GGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTGGGGAAG AAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGGGTG GAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGT CGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGG GTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NAP1L5_chr4_88690913_88702829	88699285	T T	TTCCCCAC others(392): Show TTCCCCACCCACCCACCCAGCCCCACCCCACTCATCGACCCAGCTCCACC CTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCACCCACCCACCC CTACCCGCTTCTTCTCCACCCACCCACCCAGCCCCACCCCACTCATCGAC CCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTACCCTCTTCCCCA CCCACCCACCCCTACCCGCTTCTTCCCCACCCACCCACCCAGCCCCACCC CACTCATCGACCCAGCTCCACCCTCTTCTTCCCCACCGACCCACCCCTAC CCTCTTCCCCACCCACCCACCCCTACCCGCTTCTTCTCCACCCACCCACC CAGCCCCACCCTATTCCTCCCCACCCACCCACCCAGCCCCACCCTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG03540.hp2 NA18951.hp1 others(5): Show HG01106.hp1 HG03540.hp2 NA18951.hp1 NA18959.hp2 NA18979.hp1 NA19002.hp1 NA19007.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0000 a0001c0001t0010g0000 a0001c0001t0002g0000 a0001c0001t0010g0000	8	306	0.0261	399	c.-15 others(410): Show c.-1532_-1531insGGAAGAGGGTGGGGCTGGGTGGGTGGGTGGGGAG GAATAGGGTGGGGCTGGGTGGGTGGGTGGAGAAGAAGCGGGTAGGGGTGG GTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTGGGGAAGAAGAGGGTGGA GCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGGGTGGGGAAGAAGCG GGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGTCGGTGGGGAAG AAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGGGTGGGTGGGTG GAGAAGAAGCGGGTAGGGGTGGGTGGGTGGGGAAGAGGGTAGGGGTGGGT CGGTGGGGAAGAAGAGGGTGGAGCTGGGTCGATGAGTGGGGTGGGGCTGG GTGGGTGGGTGGGGA	NAP1L5	ENSG00000177432.8	transcript	ENST00000323061.7	protein_coding		1457		chr4	TogoVar
NFATC1_chr18_79390930_79534323	79505513	T T	TGTGGGAG others(392): Show TGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAG ACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAG GCAGGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAT GGAAGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGGACGAGACCCTT GGGTGATGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTGCTGGA GGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGG TGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAG GAGGTGGTGGATGAGACCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0002 a0003c0016t0002	a0003c0016t0002g0026 a0003c0016t0002g0027 a0003c0016t0002g0026 a0003c0016t0002g0027	2	183	0.0109	399	c.278 others(420): Show c.2782+18632_2782+18633insCGTGGGAGGAGGTGGTGCTGGAGG CCCTTGGGTGAGGGAAGAGGCAGGAGACTGCTGTGTGGGAGGAGGTGGTG GATGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGCGTGGGAGGA GGTGGTGGACGAGACCCTTGGGTGATGGAAGAGGCAGGAGACTGCTGTGT GGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCAGGAGACT GCTGTGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGGTGAGGGAAGAGGCA GGAGACTGCTGTGTGGGAGGAGGTGGTGGATGAGACCCTTGGGTGAGGGA AGAGGCAGGAGACTGCTGCGTGGGAGGAGGTGGTGCTGGAGGCCCTTGGG TGAGGGAAGAGGCAGGAGACTGCTG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NLRP4_chr19_55831540_55886855	55851526	T T	TGTCCGAG others(392): Show TGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACGAGGC TGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGC TGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGC TGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0407 a0002c0009t0007g0407	1	392	0.0026	399	c.-65 others(414): Show c.-65-490_-65-489insGTCCGAGGCTGCGGTGTAATGTCCGTGGCT GCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAAT GTCCGTGGCTGCGGTGTAA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851526	T T	TGTCCGTG others(392): Show TGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGC TGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAA TGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGC TGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA TGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGC TGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	392	0.0026	399	c.-65 others(414): Show c.-65-490_-65-489insGTCCGTGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAAT TTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAAT GTCCGAGGCTGCGGTGTAA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	A A	AGGGGAGC others(392): Show AGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGG GGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGG GGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGAG AGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGG GGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGAG AGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGG GGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGG GGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0205 a0001c0028t0001g0205	1	237	0.0042	399	c.140 others(416): Show c.140+8240_140+8241insCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAG GAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCA GGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAG GAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCA GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCAG GAGGGATCCTGAGTGCTCCCCCCCCACCCACCATGCACCCATTGCCCCAG GAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPRL3_chr16_80386_143673	81747	A A	ACCCCTTC others(392): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCC GGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGG GAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTA CCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	326	0.0031	399	c.49 others(410): Show c.4957_*4958insCCAGCGTGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGGCCT TCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGGCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAG CATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCG TGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GCCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGA AGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGCCTTCCCGGAGATAGGGT GGTGGGAAGAAGGGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3638		chr16	TogoVar
NPRL3_chr16_80386_143673	81857	G G	GCTGACCC others(392): Show GCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCTCCTGAATGC TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCC TGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAA GCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCT CCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCAC CCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACACTGACCCCTTCTTC CCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCC CTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02258.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0051 a0001c0001t0001g0054	2	300	0.0067	399	c.48 others(410): Show c.4847_*4848insTGTGGGGAGCATTCAGGAGGCCTTCCCGGAGATA GGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCC GGAGGTAGGGTGGTGGGAAGAAGGGGTCAGTGTGGGGAGCATTCAGGAGG CCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATT CAGGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGG GAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCA GCGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAA GGGGCCAGCGTGGGGAGCATTCAGGAGGGCTTCCTGGAGGTAGGGTGGTG GGAAGAAGGGGTCAG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3528		chr16	TogoVar
NPRL3_chr16_80386_143673	81918	A A	ACCCCTTC others(392): Show ACCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCCTCCTGAATGCTCCC CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCC TCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCAG GAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA TCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTTC TTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01515.hp1 HG01192.hp2 HG01515.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0106 a0001c0005t0001g0121 a0001c0005t0001g0106 a0001c0005t0001g0121	2	317	0.0063	399	c.47 others(410): Show c.4786_*4787insCCAGCGTGGGGAGCATTCAGGAGGGCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGCCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCGTGGGGAGCATTCAG GAGGGCTTCCCGGAGATAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAG CATTCAGGAGGGCTTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGCCAGCG TGGGGAGCATTCAGGAGGGCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGG GCCAGCGTGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGA AGAAGGGGCCAGCGTGGGGAGCATTCAGGAGGGCTTCCCGGAGATAGGGT GGTGGGAAGAAGGGG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3467		chr16	TogoVar

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