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
DPH1_chr17_2025153_2048898	2035389	AGGGCCCT others(108): Show AGGGCCCTGCCTGCGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCC TGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	389	0.0026	-115	c.279 others(15): Show c.279-568_279-454del	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DYNLT2B_chr3_196286219_196323240	196316906	TGTTGTGT others(108): Show TGTTGTGTGGTGTGTGTGTGTGTTGTGTGGTGTGTGTGTGTGTGTGTAAA GTTAGTGATCTCACAAACCTAGCTGAGTACCCTCTGCTCTGGCCCGTGAG CCTGACATTTTTTTCA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 HG02027.hp1 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	328	0.0061	-115	c.114 others(15): Show c.114-790_114-676del	DYNLT2B	ENSG00000213123.11	transcript	ENST00000325318.10	protein_coding	1/4			chr3	TogoVar
FANCI_chr15_89238979_89322131	89314085	GACCTACA others(108): Show GACCTACAAATTACAATTCACGTTAGGAGGAAAGACACACACACAAAAAC GTAGGACCACACACAAAAATGTAGGACCTTTCGTTAGGGGGAAAGACACA CACACACACACGTAGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp2 NA18906.hp2 HG01884.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0040 a0001c0010t0007g0041 a0001c0010t0007g0042 a0001c0010t0007g0040 a0001c0010t0007g0041 a0001c0010t0007g0042	3	344	0.0087	-115	c.372 others(17): Show c.3721-500_3721-386del	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
FARP1_chr13_98138094_98460176	98378960	TATATACA others(108): Show TATATACAATATATAATCTATATATAATATATATATAATATATACAATAT ATAATCTATATATAATATATATAATATATACAATATGTAATCTATATATA ATATATAATATATGTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01346.hp1 HG01358.hp2 others(6): Show HG00280.hp1 HG01346.hp1 HG01358.hp2 HG02109.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG03239.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010	a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 others(5): Show a0001c0001t0003 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0050 a0001c0004t0002 a0001c0004t0008 a0001c0010t0003	a0001c0001t0003g0044 a0001c0001t0007g0002 a0001c0002t0001g0087 others(6): Show a0001c0001t0003g0044 a0001c0001t0007g0002 a0001c0002t0001g0087 a0001c0002t0002g0194 a0001c0002t0050g0122 a0001c0004t0002g0132 a0001c0004t0008g0058 a0001c0004t0008g0107 a0001c0010t0003g0043	9	216	0.0417	-115	c.496 others(17): Show c.496+1047_496+1161del	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FBN1_chr15_48403313_48650709	48604096	CTTAAATG others(108): Show CTTAAATGATTCATCAGAAAAGAACAATGTGAGCACGCTATGGGAATGAG AGAGAGGCAGGGCTGGCACCTGGATCTCAATACCTCAGGTAATGATTTTC TTTGGGATGCATTAGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp1 HG02896.hp1 others(4): Show HG01884.hp2 HG02258.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0012 a0001c0025	a0001c0001t0010 a0001c0004t0004 a0001c0006t0014 others(3): Show a0001c0001t0010 a0001c0004t0004 a0001c0006t0014 a0001c0007t0002 a0001c0012t0010 a0001c0025t0008	a0001c0001t0010g0222 a0001c0004t0004g0020 a0001c0006t0014g0007 others(4): Show a0001c0001t0010g0222 a0001c0004t0004g0020 a0001c0006t0014g0007 a0001c0007t0002g0016 a0001c0007t0002g0017 a0001c0012t0010g0019 a0001c0025t0008g0200	7	286	0.0245	-115	c.347 others(17): Show c.347-3977_347-3863del	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	4/65			chr15	TogoVar
FER1L5_chr2_96637764_96709883	96659290	TTTCCTTC others(108): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02300.hp2 HG02630.hp1 others(3): Show HG02055.hp1 HG02300.hp2 HG02630.hp1 HG02922.hp1 HG03209.hp1 NA19070.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0012	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0003c0005 a0011c0018 a0012c0022	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(3): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0003c0005t0001 a0011c0018t0001 a0012c0022t0001	a0001c0002t0001g0188 a0001c0003t0001g0179 a0002c0001t0001g0195 others(3): Show a0001c0002t0001g0188 a0001c0003t0001g0179 a0002c0001t0001g0195 a0003c0005t0001g0183 a0011c0018t0001g0190 a0012c0022t0001g0182	6	156	0.0385	-115	c.748 others(16): Show c.748-1048_748-934del	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FERMT1_chr20_6069845_6128030	6117667	CGTGATCC others(108): Show CGTGATCCACCCACCTCAGCCTTCCAAAGTGCTGGGATTACAGGAAATTT TTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTT GAACTCCTGACCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00741.hp1 others(33): Show HG00597.hp1 HG00609.hp2 HG00741.hp1 HG01081.hp2 HG01167.hp2 HG01243.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02040.hp1 HG02055.hp1 HG02572.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 NA18522.hp1 NA18940.hp1 NA18950.hp2 NA18957.hp1 NA18960.hp1 NA18979.hp2 NA18989.hp1 NA19005.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19076.hp2 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0013 a0015	a0001c0022 a0001c0028 a0002c0033 others(5): Show a0001c0022 a0001c0028 a0002c0033 a0003c0005 a0003c0027 a0004c0007 a0013c0025 a0015c0026	a0001c0022t0018 a0001c0028t0001 a0002c0033t0037 others(8): Show a0001c0022t0018 a0001c0028t0001 a0002c0033t0037 a0003c0005t0001 a0003c0005t0002 a0003c0005t0008 a0003c0005t0027 a0003c0027t0002 a0004c0007t0001 a0013c0025t0001 a0015c0026t0001	a0001c0022t0018g0201 a0001c0028t0001g0038 a0002c0033t0037g0110 others(30): Show a0001c0022t0018g0201 a0001c0028t0001g0038 a0002c0033t0037g0110 a0003c0005t0001g0007 a0003c0005t0001g0008 a0003c0005t0001g0041 a0003c0005t0001g0043 a0003c0005t0001g0045 a0003c0005t0001g0051 a0003c0005t0001g0055 a0003c0005t0001g0056 a0003c0005t0001g0057 a0003c0005t0001g0147 a0003c0005t0001g0149 a0003c0005t0001g0196 a0003c0005t0002g0042 a0003c0005t0002g0044 a0003c0005t0002g0053 a0003c0005t0008g0264 a0003c0005t0027g0054 a0003c0027t0002g0052 a0004c0007t0001g0006 a0004c0007t0001g0047 a0004c0007t0001g0048 a0004c0007t0001g0049 a0004c0007t0001g0050 a0004c0007t0001g0058 a0004c0007t0001g0059 a0004c0007t0001g0061 a0004c0007t0001g0148 a0004c0007t0001g0195 a0013c0025t0001g0060 a0015c0026t0001g0046	36	366	0.0984	-115	c.151 others(17): Show c.151+1622_152-1624del	FERMT1	ENSG00000101311.17	transcript	ENST00000217289.9	protein_coding	2/14			chr20	TogoVar
FOXN3_chr14_89151177_89422233	89361347	AGCACCAC others(108): Show AGCACCACCTCCACCACCACCTCCAGCACCACCTCCACCACCACCACCTC CAGCACCACCTCCACCACCACCACCTCCACCACCACCTCCTACCACTACC ACCTCCAGCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0018 a0001c0001t0056g0018	1	217	0.0046	-115	c.544 others(19): Show c.544-10654_544-10540del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GABPB1_chr15_50270389_50360198	50340880	AATATTAC others(108): Show AATATTACATATTACATATGGTTTATTACCATATGTAATATTACATATTA CATATGGTTTATTACCATATGTAATATTACATATTACATATGGTTTATTA CCATATGTAATATTAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01517.hp2 HG04115.hp2 HG01175.hp2 HG01517.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0285 a0001c0001t0004g0305 a0001c0001t0004g0306	3	275	0.0109	-115	c.-1+ others(17): Show c.-1+13990_-1+14104del	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241807937	CCTCCCCC others(108): Show CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0088 a0009c0012t0001g0088	1	305	0.0033	-115	c.37 others(11): Show c.3772_*3886del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3651		chr2	TogoVar
GGT1_chr22_24598193_24633996	24605182	ATATTATA others(108): Show ATATTATATAATATATAATATGTATTATATTATATATTATATAATATGTA TTATATTATATATTATATAATATGTATTATATATTATATAATATGTATTA TATATTATATAATATG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0014 a0001c0009t0001g0014	2	422	0.0047	-115	c.-42 others(19): Show c.-429+1665_-429+1779del	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605561	ATATTATA others(108): Show ATATTATATAATGTGTATTATATATATAATATTATATAATGTGTATTATA TATATAATATTATATAATGTGTATTATATATATAATATTATATAATGTGT ATTATATATTTAATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0272 a0002c0002t0001g0272	1	346	0.0029	-115	c.-42 others(19): Show c.-429+2038_-429+2152del	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GLI3_chr7_41955949_42242209	42211148	GAAAAAGT others(108): Show GAAAAAGTTTCCCATTAAGACGGTAGCTATTTTTTTCAAGCATGATTCTT TTTAATTGCGGAAAAGAGCCGAAAGGCTTTGTCAGAGGGCACATGTTTTC TATAAATCAAAAGGTA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0087 a0001c0001t0033g0087	1	156	0.0064	-115	c.124 others(19): Show c.124+11867_124+11981del	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	2/14			chr7	TogoVar
GRTP1_chr13_113319163_113369130	113346613	AGTGGACC others(108): Show AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCTG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	286	0.0035	-115	c.466 others(17): Show c.466-1769_466-1655del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GZMM_chr19_539053_554922	540420	GCCCCCCG others(108): Show GCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAG GCCGGGGTGGCCAGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02145.hp2 others(11): Show HG01243.hp1 HG01891.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03225.hp2 HG06807.hp1 NA19240.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0003c0004t0001	a0001c0001t0001g0056 a0001c0001t0001g0089 a0001c0001t0003g0059 others(5): Show a0001c0001t0001g0056 a0001c0001t0001g0089 a0001c0001t0003g0059 a0001c0005t0001g0034 a0001c0005t0001g0035 a0001c0005t0001g0090 a0003c0004t0001g0006 a0003c0004t0001g0105	14	385	0.0364	-115	c.-36 others(11): Show c.-3651_-3537del	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		3632		chr19	TogoVar
HSD17B11_chr4_87331515_87396188	87378848	ATATATAT others(108): Show ATATATATAAATATATATAAATATATATATATAAATATATATATATAAAT ATATATAAATATATATATATAAATATATATAAATATATATATATATATAT TTATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0148 a0001c0002t0011g0148	1	388	0.0026	-115	c.318 others(17): Show c.318+3292_318+3406del	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
IPCEF1_chr6_154149496_154361803	154357796	TAATATAT others(108): Show TAATATATATAATATATATATAAAATATATATAATATATATAATATATAT ATAAAATATATATATAAAATATATATATATATAAAATATATATATATAAT ATATATATAAAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0086 a0005c0005t0004g0086	1	259	0.0039	-115	c.-13 others(11): Show c.-1301_-1187del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		994		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154357830	TATATATA others(108): Show TATATATAATATATATATAAAATATATATATAAAATATATATATATATAA AATATATATATATAATATATATATAAAATATATATATATAATATATATAT AAAATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	262	0.0038	-115	c.-13 others(11): Show c.-1335_-1221del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		1028		chr6	TogoVar
IQCA1_chr2_236319151_236512476	236491131	ATATATAT others(108): Show ATATATATACAGTATATATATACACACAGTATATATATATATATATATAT ACACACAGTATATATATATATATATATATATACACACAGTATATATATAT ATATATATATACACAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0157 a0002c0013t0002g0157	1	204	0.0049	-115	c.456 others(17): Show c.456+2522_456+2636del	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar
ITGA11_chr15_68291532_68437163	68397226	TATATATT others(108): Show TATATATTATGTATTATATTATATTTTATAAAATATTATAAAAATATTAA ATTAAAAATTTTAAAATAATATTATATTATTTATTATATAATATATTATA TATTATTTATTATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01433.hp1 HG02630.hp2 others(7): Show HG01074.hp2 HG01433.hp1 HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG06807.hp1 NA18522.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0018	a0001c0001 a0001c0005 a0002c0067 others(5): Show a0001c0001 a0001c0005 a0002c0067 a0002c0080 a0003c0040 a0004c0052 a0005c0018 a0018c0064	a0001c0001t0001 a0001c0005t0005 a0001c0005t0035 others(6): Show a0001c0001t0001 a0001c0005t0005 a0001c0005t0035 a0002c0067t0051 a0002c0080t0002 a0003c0040t0042 a0004c0052t0006 a0005c0018t0046 a0018c0064t0009	a0001c0001t0001g0149 a0001c0005t0005g0220 a0001c0005t0005g0241 others(7): Show a0001c0001t0001g0149 a0001c0005t0005g0220 a0001c0005t0005g0241 a0001c0005t0035g0226 a0002c0067t0051g0120 a0002c0080t0002g0227 a0003c0040t0042g0019 a0004c0052t0006g0145 a0005c0018t0046g0031 a0018c0064t0009g0223	10	239	0.0418	-115	c.164 others(17): Show c.164+5577_164+5691del	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
KALRN_chr3_124028369_124731325	124628270	CTCCTTCC others(108): Show CTCCTTCCTTCCTTCCCTCCCTCCCTCCTTCATTCCCTCCCTCCCCCCTC CTTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTTCTTCTTTCCT TCCCTCCTTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp2 HG01168.hp2 others(21): Show HG00438.hp2 HG00642.hp2 HG01168.hp2 HG01175.hp2 HG01258.hp2 HG02055.hp2 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02559.hp1 HG02615.hp2 HG03139.hp1 HG03209.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18964.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA19030.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0008 a0001c0010 others(21): Show a0001c0002 a0001c0008 a0001c0010 a0001c0019 a0001c0022 a0001c0030 a0001c0035 a0001c0039 a0001c0041 a0001c0046 a0001c0047 a0001c0049 a0001c0056 a0001c0058 a0001c0063 a0001c0066 a0001c0067 a0001c0069 a0001c0073 a0001c0075 a0002c0028 a0002c0057 a0003c0064 a0006c0077	a0001c0002t0002 a0001c0008t0002 a0001c0010t0002 others(21): Show a0001c0002t0002 a0001c0008t0002 a0001c0010t0002 a0001c0019t0001 a0001c0022t0001 a0001c0030t0002 a0001c0035t0002 a0001c0039t0001 a0001c0041t0012 a0001c0046t0002 a0001c0047t0009 a0001c0049t0001 a0001c0056t0002 a0001c0058t0001 a0001c0063t0003 a0001c0066t0001 a0001c0067t0016 a0001c0069t0022 a0001c0073t0006 a0001c0075t0003 a0002c0028t0001 a0002c0057t0002 a0003c0064t0034 a0006c0077t0001	a0001c0002t0002g0011 a0001c0008t0002g0070 a0001c0010t0002g0024 others(21): Show a0001c0002t0002g0011 a0001c0008t0002g0070 a0001c0010t0002g0024 a0001c0019t0001g0079 a0001c0022t0001g0008 a0001c0030t0002g0109 a0001c0035t0002g0065 a0001c0039t0001g0091 a0001c0041t0012g0105 a0001c0046t0002g0095 a0001c0047t0009g0092 a0001c0049t0001g0003 a0001c0056t0002g0014 a0001c0058t0001g0016 a0001c0063t0003g0088 a0001c0066t0001g0055 a0001c0067t0016g0102 a0001c0069t0022g0101 a0001c0073t0006g0096 a0001c0075t0003g0031 a0002c0028t0001g0043 a0002c0057t0002g0015 a0003c0064t0034g0085 a0006c0077t0001g0059	24	114	0.2105	-115	c.518 others(19): Show c.5183-4118_5183-4004del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM4B_chr19_4964113_5158598	5044151	CGGTGTTT others(108): Show CGGTGTTTATCGGAGTGGGGTGTCCACCTTATCCCACGCGGTGTTTATCG GAGTGGGGGTGTCCACCTTATCCCGCGTGGTGTTTATCGGAGTGGGGTGT CCACCTTATCCCGCGT	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0192 a0002c0003t0004g0192	1	255	0.0039	-115	c.432 others(17): Show c.432+3092_433-3019del	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
LEMD1_chr1_205376378_205427056	205411133	AAAGGAAG others(108): Show AAAGGAAGGAAGGAAAAAGAAAGAAGAAAGAGAGAGAGAAAGAAGGAAAG AAGGAAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGGAAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	383	0.0026	-115	c.270 others(17): Show c.270+4984_270+5098del	LEMD1	ENSG00000186007.10	transcript	ENST00000367153.9	protein_coding	4/5			chr1	TogoVar
LMF1_chr16_848634_975984	858752	GACTGGTG others(108): Show GACTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0019 a0019	a0019c0042 a0019c0042	a0019c0042t0001 a0019c0042t0001	a0019c0042t0001g0083 a0019c0042t0001g0083	1	217	0.0046	-115	c.153 others(19): Show c.1530-4161_1530-4047del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUC7L_chr16_183990_234449	186850	GGGAACAG others(108): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	317	0.0032	-115	c.22 others(11): Show c.2233_*2347del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2139		chr16	TogoVar
MCOLN3_chr1_85013082_85053500	85052633	AGTCCCAG others(108): Show AGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGAATCACTGTGTCCAGGAG GTCGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCTAGCCTGGGCG ACAGAGCAAGACCCTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	368	0.0027	-115	c.-43 others(11): Show c.-4355_-4241del	MCOLN3	ENSG00000055732.13	transcript	ENST00000370589.7	protein_coding		4134		chr1	TogoVar
MECOM_chr3_169078507_169668712	169472465	AAGGAAAG others(108): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAAGAAAAGAAAAGAAAAGGAAAGGAAAGGAAAAGAAAAGAGAGGA GAGGAGAGGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19030.hp2 HG03834.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0018 a0001c0001t0008g0091 a0001c0001t0004g0018 a0001c0001t0008g0091	2	160	0.0125	-115	c.38- others(17): Show c.38-91056_38-90942del	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151368604	TATTTTAT others(108): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTTCATTT CATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp1 HG01109.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0136 a0001c0004t0021g0137 a0001c0004t0021g0136 a0001c0004t0021g0137	2	247	0.0081	-115	c.355 others(17): Show c.3550+358_3550+472del	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MORN1_chr1_2316253_2396554	2392725	TAAAGGGT others(108): Show TAAAGGGTTCTCAGTAATTCAGACTCTCACATGGCTTCTGCCGTATGCCT GAGGTGACGGCGACGGCGGTAACAGTGTGTCAGAGCCAGGTGGAGATATA AGATGGTCAGGCCCAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	78	0.0128	-115	c.-13 others(11): Show c.-1307_-1193del	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding		1172		chr1	TogoVar
MTMR1_chrX_150688396_150770108	150769592	TCCTGGTC others(108): Show TCCTGGTCTCCCAGGCCCAGTCCCCACGGCTGCTGCACTGTAGTTCCACT GGCAACACTCGCCTGAGCTGTCCTAGTCTCCCTGCCTGCGCCACCAGGCC TCGGCTGCTCCCCGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0161 a0001c0002t0009g0161	1	268	0.0037	-115	c.68 others(11): Show c.6864_*6978del	MTMR1	ENSG00000063601.17	transcript	ENST00000445323.7	protein_coding		4485		chrX	TogoVar
MYO3B_chr2_170173147_170660167	170649121	AATGTATA others(108): Show AATGTATATAAAATAATATATAATATATTATATATAAAATAATATATAAT ATATTATATATAAAATAATATATATTATATATAAAATAATATATAATATA TTATATATAAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0014 a0002c0006t0014	a0002c0006t0014g0006 a0002c0006t0014g0006	1	172	0.0058	-115	c.373 others(19): Show c.3734-2504_3734-2390del	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYZAP_chr15_57586904_57690364	57687860	TATAATAT others(108): Show TATAATATGTGTGTACAATATACACATATATAATATGTGTGTACAATATA CACATATATAATATGTGTGTACAATATACACATATATAATATGTGTGTAC AATATACACATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0071 a0002c0002t0002g0071	1	338	0.0030	-115	c.33 others(11): Show c.3363_*3477del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2497		chr15	TogoVar
NCAPG2_chr7_158626169_158709804	158667463	CGCCTTAC others(108): Show CGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCGCTTACCCACTAC TGGGTCCCTCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	346	0.0029	-115	c.148 others(19): Show c.1480-2828_1480-2714del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668042	CCCTTACC others(108): Show CCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCC CTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCC TCTGGCCCTCCACCCT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	253	0.0040	-115	c.147 others(19): Show c.1479+3357_1480-3293del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668180	CGCCTTCC others(108): Show CGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTACTG GGTCCCTCTGCCCTCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTACC TACCTTGTGTCCCTAG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18994.hp1 HG02818.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0341 a0001c0001t0001g0007 a0001c0001t0001g0341	2	372	0.0054	-115	c.147 others(19): Show c.1479+3219_1479+3333del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCOR2_chr12_124319415_124572612	124431067	TCACAGAC others(108): Show TCACAGACATGCACATACAGGCACACACATACAGTCAGACAGATATACAC AGGCACACACAAGTCACACAGGCAGACACACATGCAGTCACAGACACACA CAGATACACAAAGTCA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0013 a0013	a0013c0112 a0013c0112	a0013c0112t0007 a0013c0112t0007	a0013c0112t0007g0183 a0013c0112t0007g0183	1	232	0.0043	-115	c.883 others(15): Show c.883-395_883-281del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	10/48			chr12	TogoVar
NHLRC4_chr16_562005_574495	571118	CTGGTGCC others(108): Show CTGGTGCCCGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCGTGGC TAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTCTGGTTAGCCTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	421	0.0024	-115	c.27 others(11): Show c.2700_*2814del	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1624		chr16	TogoVar
NLRP8_chr19_55942832_55993629	55947214	CCAGCATC others(108): Show CCAGCATCTGTTATTGCTTGACTTTTTAATAATCACCATTCTGACTGGTG TGAGATGACATCTCGTTGTGGTTTTGATTTGCATCTCTCTAATACATGAT CCATTTTTTAAGAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03139.hp1 HG03139.hp2 others(2): Show HG01884.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 NA18988.hp1	a0001 a0013 a0032 a0001 a0013 a0032	a0001c0002 a0013c0018 a0032c0038 a0001c0002 a0013c0018 a0032c0038	a0001c0002t0003 a0013c0018t0026 a0013c0018t0036 others(1): Show a0001c0002t0003 a0013c0018t0026 a0013c0018t0036 a0032c0038t0027	a0001c0002t0003g0112 a0013c0018t0026g0154 a0013c0018t0026g0155 others(2): Show a0001c0002t0003g0112 a0013c0018t0026g0154 a0013c0018t0026g0155 a0013c0018t0036g0152 a0032c0038t0027g0153	5	348	0.0144	-115	c.-68 others(9): Show c.-688_-574del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		617		chr19	TogoVar
NRXN1_chr2_49913503_51037132	50472537	TGGAGAAA others(108): Show TGGAGAAAAAACAGGGAGGTTTATTTTTCATTAAGTTAATAAAAAATTAA TTTATGACTAGCTGTTTTCCCCAAAGTGCTAAACAATAGAGACGTTTGAA TAATATACTGGCACTA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp2 HG00738.hp1 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0010 a0001c0002t0005 a0001c0002t0010	a0001c0002t0005g0103 a0001c0002t0010g0077 a0001c0002t0005g0103 a0001c0002t0010g0077	2	116	0.0172	-115	c.307 others(16): Show c.3071-181_3071-67del	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	15/22			chr2	TogoVar
NT5DC3_chr12_103767310_103846234	103839767	TAAGAAAG others(108): Show TAAGAAAGTAAGCCACCATTTCATAGAATTCTGCATTGCTAGTCATTTTA CGTCCCCTCTGAAAATCACTCCAATTTGCTTTTTTCATTAAACTGACTTC TGGCCAAAAAAAATGG	T T	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0020 a0001c0004t0003g0020	1	384	0.0026	-115	c.208 others(17): Show c.208+1067_208+1181del	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
NTM_chr11_131365615_132341822	131598777	TCTTTCTT others(108): Show TCTTTCTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTCTTTCTTTCTTTC TTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTC TTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp1 HG01517.hp2 others(4): Show HG01081.hp1 HG01255.hp1 HG01517.hp2 HG01978.hp1 HG04184.hp1 HG04184.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0005 a0001c0002t0012	a0001c0001t0001g0036 a0001c0001t0001g0074 a0001c0001t0002g0035 others(4): Show a0001c0001t0001g0036 a0001c0001t0001g0074 a0001c0001t0002g0035 a0001c0001t0003g0061 a0001c0001t0007g0021 a0001c0002t0005g0026 a0001c0002t0012g0068	7	86	0.0814	-115	c.82+ others(19): Show c.82+227890_82+228004del	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NXN_chr17_794310_984776	893592	TCCCTGGA others(108): Show TCCCTGGAAGCCAGAGGAAGCATCTCAATGCCCTGGAAGCCAGAGGAAGC ATCTCAACCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAG AGGAAGCATCTCAATG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	240	0.0042	-115	c.361 others(19): Show c.361-67629_361-67515del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	893768	TGGAAGCC others(108): Show TGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGCATCT CAACTCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGG AAGCATCTCAACCCCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00544.hp2 others(117): Show HG00099.hp2 HG00323.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18948.hp1 NA18952.hp2 NA18964.hp1 NA18972.hp2 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0002c0004 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0008t0013 a0001c0009t0006 a0002c0004t0004 a0002c0004t0009 a0003c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(117): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0001t0002g0093 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0148 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0178 a0001c0001t0002g0191 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0058 a0001c0001t0003g0065 a0001c0001t0003g0070 a0001c0001t0003g0085 a0001c0001t0003g0097 a0001c0001t0003g0157 a0001c0001t0003g0165 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0199 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0004g0016 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0228 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0059 a0001c0001t0005g0074 a0001c0001t0005g0108 a0001c0001t0005g0132 a0001c0001t0005g0161 a0001c0001t0005g0209 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0144 a0001c0001t0006g0155 a0001c0001t0006g0172 a0001c0001t0006g0183 a0001c0001t0006g0202 a0001c0001t0007g0023 a0001c0001t0007g0040 a0001c0001t0007g0073 a0001c0001t0009g0008 a0001c0001t0009g0009 a0001c0001t0011g0013 a0001c0001t0011g0174 a0001c0001t0012g0018 a0001c0001t0012g0066 a0001c0001t0013g0220 a0001c0001t0017g0002 a0001c0001t0023g0052 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0001t0026g0173 a0001c0001t0027g0010 a0001c0001t0031g0238 a0001c0001t0032g0242 a0001c0001t0033g0241 a0001c0002t0001g0042 a0001c0002t0008g0022 a0001c0002t0008g0179 a0001c0003t0001g0235 a0001c0003t0002g0232 a0001c0003t0007g0233 a0001c0008t0013g0196 a0001c0009t0006g0159 a0002c0004t0004g0197 a0002c0004t0009g0198 a0003c0010t0001g0236	120	240	0.5000	-115	c.361 others(19): Show c.361-67805_361-67691del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949106	CGTGGCCT others(108): Show CGTGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTC CTCTCCCCGCGGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	239	0.0042	-115	c.360 others(19): Show c.360+30098_360+30212del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RY12_chr3_151331843_151389753	151368604	TATTTTAT others(108): Show TATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTTCATTT CATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG01109.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0147 a0001c0001t0001g0148	2	345	0.0058	-115	c.-18 others(21): Show c.-180+15973_-180+16087del	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
P2RY8_chrX_1457581_1542185	1514549	TCTCTTCC others(108): Show TCTCTTCCCTTCCCTTCCCTCCCTTCCCTTCCTTTTCCTTTCCCTTCCCT TCCCTTTCCTCCCCTCCCTTCCCTTCCTTTTCCTTTCCCTTCCCTTCCCT TTCCTCCCCTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 NA19240.hp2 HG02622.hp1 HG02723.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0003 a0001c0003t0003 a0002c0002t0006 a0001c0001t0003 a0001c0003t0003 a0002c0002t0006	a0001c0001t0003g0063 a0001c0003t0003g0065 a0002c0002t0006g0064 a0001c0001t0003g0063 a0001c0003t0003g0065 a0002c0002t0006g0064	3	113	0.0265	-115	c.-25 others(19): Show c.-25+22257_-25+22371del	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PADI4_chr1_17303197_17369004	17351931	GGTCAGGG others(108): Show GGTCAGGGAGGTGATGGGAGGTGGGAGGAGAGGCGGCCAGGGAGGTGATG GGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGAGAGGCGGCCAGGGAGGT GATGGGAGGAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02280.hp1 HG01070.hp2 HG01071.hp2 HG02280.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0012 a0002c0002 a0009c0012	a0002c0002t0001 a0009c0012t0001 a0002c0002t0001 a0009c0012t0001	a0002c0002t0001g0284 a0009c0012t0001g0189 a0009c0012t0001g0190 a0002c0002t0001g0284 a0009c0012t0001g0189 a0009c0012t0001g0190	3	369	0.0081	-115	c.115 others(19): Show c.1156-2576_1156-2462del	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17351957	GGAGAGGC others(108): Show GGAGAGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGAT GGGAGGAGAGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGG TGATGGGAGGTGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02559.hp2 HG02818.hp1 others(1): Show HG01361.hp1 HG02559.hp2 HG02818.hp1 HG02922.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0021 a0004c0006 a0001c0001 a0002c0021 a0004c0006	a0001c0001t0001 a0002c0021t0002 a0004c0006t0001 a0001c0001t0001 a0002c0021t0002 a0004c0006t0001	a0001c0001t0001g0022 a0001c0001t0001g0053 a0002c0021t0002g0017 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0053 a0002c0021t0002g0017 a0004c0006t0001g0261	4	353	0.0113	-115	c.115 others(19): Show c.1156-2568_1156-2454del	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17351965	GGCCAGGG others(108): Show GGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGAG AGGCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGA GGTGGGAAGAGAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0201 a0009c0012t0001g0201	1	359	0.0028	-115	c.115 others(19): Show c.1156-2566_1156-2452del	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI4_chr1_17303197_17369004	17351967	CCAGGGAG others(108): Show CCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGGAGAG GCGGCCAGGGAGGTGATGGGAGGAGAGGCAGTCAGGGAGGTGATGGGAGG TGGGAAGAGAGGCAGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01928.hp1 HG02083.hp2 others(6): Show HG01099.hp2 HG01928.hp1 HG02083.hp2 HG02976.hp2 NA18747.hp1 NA18945.hp1 NA18987.hp1 NA18987.hp2 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0010 a0005c0007	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0002c0010t0001 a0005c0007t0001	a0001c0001t0001g0076 a0001c0001t0001g0108 a0002c0002t0001g0147 others(6): Show a0001c0001t0001g0076 a0001c0001t0001g0108 a0002c0002t0001g0147 a0002c0002t0001g0281 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0004t0001g0349 a0002c0010t0001g0340 a0005c0007t0001g0363	9	340	0.0265	-115	c.115 others(19): Show c.1156-2547_1156-2433del	PADI4	ENSG00000159339.13	transcript	ENST00000375448.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr1	TogoVar

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