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
ENOX1_chr13_43208130_43791972	43616130	C C	CTATATAG others(187): Show CTATATAGATAGATATCTATATATATAGATATCTATATAGATAGATATCT ATATATCTATAGATATCTATATAGATAGATATCTATATATAGATATCTAT ATAGATAGATATCTATATATCTATAGATATCTATATAGATAGATATCTAT ATATCTATAGATATCTATCTATATAGATATCTATAGATATATAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0162 a0001c0001t0007g0162	1	183	0.0055	194	c.-21 others(215): Show c.-219+51348_-219+51349insTCTATATATCTATAGATATCTATA TAGATAGATATCTATAGATATATAGATATCTATCTATATAGATATCTATA GATATATAGATATCTATCTATATAGATATCTATATATAGATATCTATCTA TATAGATATCTATAGATATATAGATATCTATCTATATAGATATCTATATA TATAGATATCTATCTATATA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ERBIN_chr5_65921575_66087546	66018586	T T	TTATATAT others(187): Show TTATATATTATAATATATAATATATATTATATAATATATATTATATATTA TATATTATATAATATATATTATATATTATATAATATATAATATATATTAT ATATTATATAATATATATTATATATTATATAATATATAATATATATTATA TATTATATAATATATAATATATATTATATATTATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	153	0.0065	194	c.534 others(211): Show c.534-2730_534-2729insTTATAATATATAATATATATTATATAAT ATATATTATATATTATATATTATATAATATATATTATATATTATATAATA TATAATATATATTATATATTATATAATATATATTATATATTATATAATAT ATAATATATATTATATATTATATAATATATAATATATATTATATATTATA TAATATATAATATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ESYT2_chr7_158725997_158834509	158729455	T T	TGCTGGGG others(187): Show TGCTGGGGAGAGGGGCAAGTGAGGATGTGCTGGCGGGGAGGAGCAAGTGT GGAGGTGGGGGGGTTGGAGCAGGTATGGAGGTGCTGGGGAGAGGGGCAAG TGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGGGGAGG AGCAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0201 a0003c0003t0004g0201	1	362	0.0028	194	c.47 others(205): Show c.4751_*4752insGCACCTCCACACTTGCTCCTCCCCCCCAGCACCT CCACACTTGCTCCTCCCCCCCAGCACCTCCACACTTGCTCCTCCCCCCCA GCACCTCCACACTTGCCCCTCTCCCCAGCACCTCCATACCTGCTCCAACC CCCCCACCTCCACACTTGCTCCTCCCCGCCAGCACATCCTCACTTGCCCC TCTCCCCAGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1541		chr7	TogoVar
EYS_chr6_63714980_65712226	64126331	T T	TAAGAAAA others(187): Show TAAGAAAATGTGGCACATAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAATCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0012 a0002c0009t0001g0012	1	20	0.0500	194	c.642 others(215): Show c.6425-44330_6425-44329insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGATTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTATGTGCCACATTTTCTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
F10_chr13_113117799_113154529	113154168	C C	CGGGGCGC others(187): Show CGGGGCGCGGGGGAGGCGGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGAG GAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGCACGTGACGCAGG GCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGC GCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0184 a0006c0011t0001g0184	1	410	0.0024	194	c.46 others(205): Show c.4651_*4652insGGGGCGCGGGGGAGGCGGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAG GGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCG CGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCG GGGGGAGGCG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4640		chr13	TogoVar
FARP2_chr2_241351285_241499841	241471902	G G	GTTCTGTG others(187): Show GTTCTGTGGGGACCCTGTTCTGAGGGAACCCTGTTCTGTGAGGATTCTGC TCTGCAGAGGCCCTATTCTGAGGGTAGTGCTGTTTTGAGGGACTCTTTTC TGAGGGGACCTTGTTCTTAAGGGGATCCTGTTCTGAGAGGGATGCTGTTT TGTGGGGACCCTGTTCTGAGGGGACTGTGTTCTGTGGGGAACCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(66): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02080.hp1 HG02135.hp2 HG02257.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18943.hp1 NA18952.hp1 NA18971.hp2 NA18982.hp1 NA19000.hp1 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19070.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0010 others(2): Show a0001c0001 a0001c0004 a0001c0010 a0001c0025 a0005c0008	a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0010t0001 a0001c0025t0001 a0005c0008t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(66): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0368 a0001c0001t0001g0377 a0001c0004t0001g0143 a0001c0004t0001g0157 a0001c0004t0001g0159 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0163 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0166 a0001c0004t0001g0167 a0001c0004t0001g0168 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0174 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0001g0180 a0001c0004t0001g0181 a0001c0004t0001g0182 a0001c0004t0001g0359 a0001c0004t0001g0360 a0001c0004t0001g0361 a0001c0004t0001g0362 a0001c0004t0001g0370 a0001c0010t0001g0363 a0001c0010t0001g0364 a0001c0010t0001g0365 a0001c0025t0001g0160 a0005c0008t0001g0144 a0005c0008t0001g0146 a0005c0008t0001g0147 a0005c0008t0001g0148 a0005c0008t0001g0149 a0005c0008t0001g0151 a0005c0008t0001g0153 a0005c0008t0001g0154	69	326	0.2117	194	c.213 others(213): Show c.2131+3550_2131+3551insAACCCTGTTCTGTGAGGATTCTGCTC TGCAGAGGCCCTATTCTGAGGGTAGTGCTGTTTTGAGGGACTCTTTTCTG AGGGGACCTTGTTCTTAAGGGGATCCTGTTCTGAGAGGGATGCTGTTTTG TGGGGACCCTGTTCTGAGGGGACTGTGTTCTGTGGGGAACCTCTTCTGTG GGGACCCTGTTCTGAGGG	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241471902	G G	GTTCTGTG others(187): Show GTTCTGTGGGGACTCTGTTCTGAGGGAACCCTGTTCTGTGAGGATTCTGC TCTGCAGAGGCCCTATTCTGAGGGTAGTGCTGTTTTGAGGGACTCTTTTC TGAGGGGACCTTGTTCTTAAGGGGATCCTGTTCTGAGAGGGATGCTGTTT TGTGGGGACCCTGTTCTGAGGGGACTGTGTTCTGTGGGGAACCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00597.hp2 others(47): Show HG00408.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG01081.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01433.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02273.hp1 HG02293.hp1 HG02698.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA18942.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19070.hp2 NA19077.hp1 NA19083.hp1 NA19085.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0018	a0001c0003 a0001c0006 a0002c0002 others(2): Show a0001c0003 a0001c0006 a0002c0002 a0011c0017 a0018c0018	a0001c0003t0001 a0001c0006t0001 a0002c0002t0001 others(3): Show a0001c0003t0001 a0001c0006t0001 a0002c0002t0001 a0002c0002t0006 a0011c0017t0001 a0018c0018t0001	a0001c0003t0001g0027 a0001c0006t0001g0236 a0001c0006t0001g0240 others(47): Show a0001c0003t0001g0027 a0001c0006t0001g0236 a0001c0006t0001g0240 a0001c0006t0001g0241 a0001c0006t0001g0242 a0001c0006t0001g0243 a0001c0006t0001g0244 a0001c0006t0001g0245 a0001c0006t0001g0246 a0001c0006t0001g0247 a0001c0006t0001g0248 a0001c0006t0001g0249 a0001c0006t0001g0250 a0001c0006t0001g0251 a0002c0002t0001g0200 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0332 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0352 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0006g0252 a0011c0017t0001g0255 a0018c0018t0001g0338	50	307	0.1629	194	c.213 others(213): Show c.2131+3537_2131+3538insTCTGTTCTGAGGGAACCCTGTTCTGT GAGGATTCTGCTCTGCAGAGGCCCTATTCTGAGGGTAGTGCTGTTTTGAG GGACTCTTTTCTGAGGGGACCTTGTTCTTAAGGGGATCCTGTTCTGAGAG GGATGCTGTTTTGTGGGGACCCTGTTCTGAGGGGACTGTGTTCTGTGGGG AACCTCTTCTGTGGGGAC	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(187): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCACATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0002 a0003c0040t0002	a0003c0040t0002g0042 a0003c0040t0002g0042	1	202	0.0050	194	c.-22 others(205): Show c.-2234_-2233insTGATATATGTGATATATGTGATATATGATATATG TGATATATGTGATATATGATATATGTGATATATGTGATATATGATATATG TGATATGTGATAATGATATGATATATATGATATGATATATATGATAGATC ATATATGATCTCATATATATGATATATATGATATAATATATGATCTATCA TATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FGFR2_chr10_121473332_121603444	121584822	C C	CCCCAACC others(187): Show CCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCACCCCAACCGATC CCATGACCCTCTCCATCCCACACCCCACCCCAACCGATCCCATAACCCTC TCCATCCCGCACCCCACCCCAAACGATCCCATAACCCCTCTCCATCCCGC ACCACCCCAACCGATCCCATAACCCCTCTCCATCCCACACCCCAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00735.hp2 others(28): Show HG00438.hp1 HG00438.hp2 HG00735.hp2 HG01109.hp1 HG01168.hp2 HG01192.hp2 HG01346.hp1 HG02071.hp2 HG02280.hp1 HG02559.hp2 HG02622.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03098.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18981.hp2 NA18984.hp1 NA19070.hp1 NA19088.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0013 others(3): Show a0001c0001 a0001c0002 a0001c0013 a0002c0003 a0002c0006 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0002t0003 a0001c0002t0012 a0001c0013t0003 a0002c0003t0003 a0002c0003t0007 a0002c0003t0012 a0002c0006t0003 a0004c0008t0003	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0003g0125 others(28): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0007g0123 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0015g0159 a0001c0001t0015g0160 a0001c0002t0003g0142 a0001c0002t0003g0145 a0001c0002t0012g0121 a0001c0013t0003g0124 a0002c0003t0003g0122 a0002c0003t0003g0156 a0002c0003t0003g0157 a0002c0003t0003g0161 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0007g0155 a0002c0003t0012g0119 a0002c0006t0003g0154 a0004c0008t0003g0120	31	33	0.9394	194	c.109 others(211): Show c.109+8886_109+8887insTTGGGGTGTGGGATGGAGAGGGGTTATG GGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGTTATGGGATCGTTTGGG GTGGGGTGCGGGATGGAGAGGGTTATGGGATCGGTTGGGGTGGGGTGTGG GATGGAGAGGGTCATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGT TATGGGATCGGTTGGG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FGFR2_chr10_121473332_121603444	121584822	C C	CCCCAACC others(187): Show CCCCAACCGATCCCATAACCCCTCTCCATCCCGCACCACCCCAACCGATC CCATGACCCTCTCCATCCCACACCCCACCCCAACCGATCCCATAACCCTC TCCATCCCGCACCCCACCCCAAACGATCCCATAACCCCTCTCCATTCCGC ACCACCCCAACCGATCCCATAACCCCTCTCCATCCCACACCCCAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	3	0.3333	194	c.109 others(211): Show c.109+8886_109+8887insTTGGGGTGTGGGATGGAGAGGGGTTATG GGATCGGTTGGGGTGGTGCGGAATGGAGAGGGGTTATGGGATCGTTTGGG GTGGGGTGCGGGATGGAGAGGGTTATGGGATCGGTTGGGGTGGGGTGTGG GATGGAGAGGGTCATGGGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGT TATGGGATCGGTTGGG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FGFR2_chr10_121473332_121603444	121584822	C C	CCCCAACC others(187): Show CCCCAACCGATCCCATAACCCCTCTCCATCCCGCACTACCCCAACCGATC CCATGACCCTCTCCATCCCACACCCCACCCCAACCGATCCCATAACCCTC TCCATCCCGCACCCCACCCCAAACGATCCCATAACCCCTCTCCATCCCGC ACCACCCCAACCGATCCCATAACCCCTCTCCATCCCACACCCCAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02717.hp2 others(6): Show HG01884.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG03209.hp2 HG03225.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0011	a0001c0001t0003 a0001c0001t0019 a0001c0002t0003 others(3): Show a0001c0001t0003 a0001c0001t0019 a0001c0002t0003 a0001c0005t0007 a0002c0003t0003 a0002c0011t0004	a0001c0001t0003g0135 a0001c0001t0019g0136 a0001c0002t0003g0137 others(6): Show a0001c0001t0003g0135 a0001c0001t0019g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0005t0007g0140 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0139 a0002c0011t0004g0201	9	11	0.8182	194	c.109 others(211): Show c.109+8886_109+8887insTTGGGGTGTGGGATGGAGAGGGGTTATG GGATCGGTTGGGGTGGTGCGGGATGGAGAGGGGTTATGGGATCGTTTGGG GTGGGGTGCGGGATGGAGAGGGTTATGGGATCGGTTGGGGTGGGGTGTGG GATGGAGAGGGTCATGGGATCGGTTGGGGTAGTGCGGGATGGAGAGGGGT TATGGGATCGGTTGGG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FGFR2_chr10_121473332_121603444	121584854	G G	GCACCACC others(187): Show GCACCACCCCAACCGATCCCATGACCCTCTCCATCCCACACCCCACCCCA ACCGATCCCATAACCCTCTCCATCCCGCACCCCACCCCAAACGATCCCAT AACCCCTCTCCATCCCGCACCACCCCAACCGATCCCATAACCCCTCTCCA TCCCACACCCCAACCCAACCGATCCCATAACCCCTCTCCATCCCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0149 a0002c0003t0003g0149	1	237	0.0042	194	c.109 others(211): Show c.109+8854_109+8855insTGGGATGGAGAGGGGTTATGGGATCGGT TGGGTTGGGGTGTGGGATGGAGAGGGGTTATGGGATCGGTTGGGGTGGTG CGGGATGGAGAGGGGTTATGGGATCGTTTGGGGTGGGGTGCGGGATGGAG AGGGTTATGGGATCGGTTGGGGTGGGGTGTGGGATGGAGAGGGTCATGGG ATCGGTTGGGGTGGTG	FGFR2	ENSG00000066468.24	transcript	ENST00000358487.10	protein_coding	2/17			chr10	TogoVar
FOXK2_chr17_82514732_82609602	82586205	G G	GCCGGGGG others(187): Show GCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG CAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTTAAAGGTGGGCAGT GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0250 a0001c0003t0016g0250	1	293	0.0034	194	c.157 others(207): Show c.1576+6_1576+7insCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTTAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CAGTGGGG others(187): Show CAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC AGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0206	1	242	0.0041	194	c.157 others(209): Show c.1576+54_1576+55insAGTGGGGGAAAGGAGGAGAGGGGAGACCAC AGGGAGGTGAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CGGAGGGG others(187): Show CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCA GTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGCCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0237 a0001c0001t0012g0237	1	242	0.0041	194	c.157 others(209): Show c.1576+54_1576+55insGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTCAAAGGTGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(187): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG GGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	215	0.0047	194	c.157 others(209): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GTGGGGGA others(187): Show GTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0204 a0001c0001t0007g0204	1	215	0.0047	194	c.157 others(209): Show c.1576+56_1576+57insTGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTAGGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8			chr17	TogoVar
GABRA3_chrX_152161234_152456315	152275142	A A	ATATATAT others(187): Show ATATATATATTTAATATTATATATATAAAATTTATATATATTTAATATTA TATATATAATTTCTATATATTTAATATTATATATATAATTTATATTTAAT ATTATATATATAATTTATATATATTTAATATTATATATATAATTTATATT TAATATTATATATATAATTTATATATATTTATTATATATATAATT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp2 HG01496.hp2 others(2): Show HG01070.hp2 HG01175.hp2 HG01496.hp2 HG02602.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117	5	186	0.0269	194	c.330 others(211): Show c.330+9525_330+9526insAATTATATATATAATAAATATATATAAA TTATATATATAATATTAAATATAAATTATATATATAATATTAAATATATA TAAATTATATATATAATATTAAATATAAATTATATATATAATATTAAATA TATAGAAATTATATATATAATATTAAATATATATAAATTTTATATATATA ATATTAAATATATATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9			chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241805218	C C	CCCTCAGC others(187): Show CCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0093 a0001c0001t0001g0023 a0001c0001t0001g0093	2	312	0.0064	194	c.10 others(205): Show c.1052_*1053insCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCC TCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTC TGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		932		chr2	TogoVar
GANC_chr15_42268201_42358666	42320615	A A	ATTTTTGT others(187): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0005 a0013c0016t0005	a0013c0016t0005g0108 a0013c0016t0005g0108	1	259	0.0039	194	c.105 others(213): Show c.1058-1157_1058-1156insTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTTTTGTATTTTT	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
GMDS_chr6_1618806_2250605	1999970	T T	TTATATAT others(187): Show TTATATATATATTTTATATATATATATTATATATATATTTTATATATATA TTATATATATATAATATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATAATATATATATATTATATATATATATTAT ATATATATTATATATATATTATATATATATAATATATATATATTA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	70	0.0143	194	c.346 others(213): Show c.346-39005_346-39004insTAATATATATATATTATATATATATA ATATATATATAATATATATATAATATATATATATAATATATATATATTAT ATATATATAATATATATATAATATATATATAATATATATATATAATATAT ATATATTATATATATATAATATATATATAAAATATATATATAATATATAT ATATAAAATATATATATA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GOLM1_chr9_86021146_86104558	86053686	A A	ACACCACA others(187): Show ACACCACACACCATTCCAAACCATGCTACACACCACACACTACCACACCA CACACTCCACACCAGAACACACACCATGCCACACCACTCCACACAACACG CCACACACCATTCCACACCAAACCACACCCCACACACTCCACACCACACA CAACCACTCCATACCAAACCACACACCATACCACACTCCACACTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0247 a0001c0001t0014g0247	1	278	0.0036	194	c.310 others(211): Show c.310-1096_310-1095insGAGTGTGGAGTGTGGTATGGTGTGTGGT TTGGTATGGAGTGGTTGTGTGTGGTGTGGAGTGTGTGGGGTGTGGTTTGG TGTGGAATGGTGTGTGGCGTGTTGTGTGGAGTGGTGTGGCATGGTGTGTG TTCTGGTGTGGAGTGTGTGGTGTGGTAGTGTGTGGTGTGTAGCATGGTTT GGAATGGTGTGTGGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GPC5_chr13_91393621_92872237	92538793	C C	CATTCTTT others(187): Show CATTCTTTTCGTGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTTATCCAGCCTATCACTGATGGGCATTTTGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCTGCAATAAACATAAATGTGTATATGTCTTTATA GTAGAGTGATTTATAATCCTTTGGGTATATACTTTATATATACAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp1 HG02809.hp1 others(11): Show HG01261.hp2 HG02615.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0002g0041 a0002c0002t0001g0008 a0002c0002t0002g0038 a0003c0003t0002g0016	14	30	0.4667	194	c.156 others(217): Show c.1562-327487_1562-327486insTCTTTTCGTGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTTATCCAGCCTATCACTGATGG GCATTTTGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAA ACATAAATGTGTATATGTCTTTATAGTAGAGTGATTTATAATCCTTTGGG TATATACTTTATATATACATAT	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TGTTCATA others(187): Show TGTTCATATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTATG TTCATATATATATGTACATATATATGTTCATATATGTATGTTCATATATA TATGTACATATATATGTTCATATATATATGTTCATATATATGTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp1 HG01255.hp2 others(7): Show HG00323.hp1 HG00735.hp1 HG01255.hp2 HG02273.hp1 HG02723.hp1 NA18946.hp1 NA18955.hp1 NA18989.hp2 NA19043.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0001g0151 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0233	10	121	0.0826	194	c.143 others(211): Show c.143+2184_143+2185insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTC	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143218163	A A	ACCCACCA others(187): Show ACCCACCACCACCCACCACAAGGCCCAACACCACCCCCACACCACCCCCA CACCACCCCCAACACCACCCCCCACACCACCCCCAACACCACCCCCAACA CCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCA TCCCCAACACCCCAATAACCCCCCAACACCACCCCCAACACCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	83	0.0120	194	c.26 others(205): Show c.2645_*2646insCCCACCACCACCCACCACAAGGCCCAACACCACC CCCACACCACCCCCACACCACCCCCAACACCACCCCCCACACCACCCCCA ACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACA CCATCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCCC CAACACCACC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		994		chr8	TogoVar
GTF2H5_chr6_158163350_158204344	158169681	A A	ATATTGTA others(187): Show ATATTGTATATTGTATATTATATAATATATTGTATATTATATAATATATT GTATATTATATATAATATATTGTATATTATATATAATATATTGTATATTA TATATTATATAATATATTGTATATTATATATTATATAATATATTGTATAT TATATATTATATAATATATTGTATATTATATTATATAATATATTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG01884.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0060 a0001c0001t0011g0061 a0001c0001t0011g0060 a0001c0001t0011g0061	2	340	0.0059	194	c.-34 others(209): Show c.-34-786_-34-785insTGTATATTGTATATTATATAATATATTGTA TATTATATAATATATTGTATATTATATATAATATATTGTATATTATATAT AATATATTGTATATTATATATTATATAATATATTGTATATTATATATTAT ATAATATATTGTATATTATATATTATATAATATATTGTATATTATATTAT ATAATATATTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158169681	A A	ATATTGTA others(187): Show ATATTGTATATTGTATATTATATAATATATTGTATATTATATAATATATT GTATATTATATATAATATATTGTATGTTATATATAATATATTGTATATTA TATATTATATAATATATTGTATATTATATATTATATAATATATTGTATAT TATATTATATAATATATTGTATATTATATATTATATAATATATTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0062 a0001c0001t0039g0062	1	339	0.0029	194	c.-34 others(209): Show c.-34-786_-34-785insTGTATATTGTATATTATATAATATATTGTA TATTATATAATATATTGTATATTATATATAATATATTGTATGTTATATAT AATATATTGTATATTATATATTATATAATATATTGTATATTATATATTAT ATAATATATTGTATATTATATTATATAATATATTGTATATTATATATTAT ATAATATATTGTAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP6_chrX_299759_323796	312236	G G	GTGCCAGT others(187): Show GTGCCAGTGTAGACAGGAGGACAGTGTAGACGAAGGGGACATTGTGGTGT ACACGGGTGGATTATGTAGACGGGGTGGTGGTATAGATGGGGTAGTGGTG CTGGTGTAGACAGGAGGACAGTGTAGACGAACGGGACATTGTGGTGTACA CAGGTGGATTATGTAGACGGGGTGGTGGTATAGCTGGGGCAGTGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0098 a0002c0005t0004g0098	1	68	0.0147	194	c.916 others(209): Show c.916+529_916+530insTCACTGCCCCAGCTATACCACCACCCCGTC TACATAATCCACCTGTGTACACCACAATGTCCCGTTCGTCTACACTGTCC TCCTGTCTACACCAGCACCACTACCCCATCTATACCACCACCCCGTCTAC ATAATCCACCCGTGTACACCACAATGTCCCCTTCGTCTACACTGTCCTCC TGTCTACACTGGCA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	6/9			chrX	TogoVar
HAUS1_chr18_46099385_46133333	46112901	T T	TATATATA others(187): Show TATATATAATATATATAATGTGTATATATATTCCATATTATATATAATAT ATATAATGTGTATATATATTCCATATTATATATAATATATATAATGTGTA TATATATTCCATATTACATATATATAATATATATAATGTGTATATATATT CCATATTATATATATAATATATATAATGTGTATATATTCCATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01169.hp2 HG01175.hp2 others(1): Show HG01069.hp1 HG01169.hp2 HG01175.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0092 a0001c0001t0001g0109	4	268	0.0149	194	c.206 others(211): Show c.206-5273_206-5272insATATATATAATGTGTATATATATTCCAT ATTATATATAATATATATAATGTGTATATATATTCCATATTATATATAAT ATATATAATGTGTATATATATTCCATATTACATATATATAATATATATAA TGTGTATATATATTCCATATTATATATATAATATATATAATGTGTATATA TTCCATATAATATATA	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HERC6_chr4_88373852_88448097	88379687	A A	AATATATA others(187): Show AATATATATAATATATAAATATATAATATATAAATATATATAATATATAA ATATATAATATATAAATATATATAATATATAAATATATAATATATAAATA TATATAATATATAAATATATAATATATAAATATATATAATATATAAATAT ATAATATATAAATATATATAATATATAAATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18966.hp2 NA19004.hp2 HG03831.hp1 NA18966.hp2 NA19004.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0130 a0002c0002t0001g0136 a0004c0004t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0136 a0004c0004t0001g0129	3	52	0.0577	194	c.199 others(209): Show c.199+574_199+575insTAATATATAAATATATAATATATAAATATA TATAATATATAAATATATAATATATAAATATATATAATATATAAATATAT AATATATAAATATATATAATATATAAATATATAATATATAAATATATATA ATATATAAATATATAATATATAAATATATATAATATATAAATATATAATA TATAAATATATATA	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22819078	C C	CCTTCCTT others(187): Show CCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCTT CCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCC TTCCTCCCTCCCTCCCTCCCTTCCTTCTTCCTTCCTTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01256.hp1 HG02572.hp1 others(4): Show HG01109.hp2 HG01256.hp1 HG02572.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0003t0003 a0001c0004t0002 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0004t0002 a0001c0005t0002 a0001c0006t0006	a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0003t0003g0017 others(4): Show a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0003t0003g0017 a0001c0004t0002g0302 a0001c0004t0002g0305 a0001c0005t0002g0005 a0001c0006t0006g0016	7	265	0.0264	194	c.485 others(211): Show c.485+3984_485+3985insTTCCTTCCTTCCTTCCTTCATTCCTTCC TTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTT CCTTCATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCC TTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCTTC CTTCCTTCCTTCCCTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL11_chr19_55359382_55375463	55375268	C C	CAGCCCCT others(187): Show CAGCCCCTCCTCCCTCAGACCCAGGAGTCTGGGACCCCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCCGGACCCGGACCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01243.hp2 others(14): Show HG00735.hp2 HG01109.hp2 HG01243.hp2 HG02257.hp2 HG02486.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0068 others(2): Show a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0018g0071	17	312	0.0545	194	c.-49 others(205): Show c.-4959_-4958insAGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTCCGG GTCCGGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGGTCCCAGACTCCTGGGTCTGAGGG AGGAGGGGCT	IL11	ENSG00000095752.7	transcript	ENST00000264563.7	protein_coding		4806		chr19	TogoVar
ITGB8_chr7_20325900_20420754	20398368	C C	CTGTGTCA others(187): Show CTGTGTCAATAAGTCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0070 a0001c0004t0070	a0001c0004t0070g0030 a0001c0004t0070g0030	1	340	0.0029	194	c.114 others(211): Show c.1147-478_1147-477insATTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTGTCAATAAGTC	ITGB8	ENSG00000105855.10	transcript	ENST00000222573.5	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITIH5_chr10_7554270_7671966	7566786	A A	AGGAGGAG others(187): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGA GGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0020 a0015c0019t0020	a0015c0019t0020g0111 a0015c0019t0020g0111	1	291	0.0034	194	c.215 others(211): Show c.2150-380_2150-379insCCTTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTCCTCCTCCTCCT TCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTTC TCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
JAZF1_chr7_27825577_28185795	28110504	A A	AAAGGAAA others(187): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	153	0.0065	194	c.115 others(213): Show c.115+69958_115+69959insCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
KCNMB2_chr3_178531436_178849429	178758700	A A	ACAAGAGG others(187): Show ACAAGAGGAGATATATATATATATATCTCCAAGAGGAGATATATATATAT ATATATATCTCCAAAAGGAGATATATATATATATATATCTCCAAGAGGAG ATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGG AGATATATATATATATCTCCAAGAGGAGATATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	177	0.0056	194	c.-67 others(213): Show c.-67-48618_-67-48617insCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAAAGGAGATATATATATATATATATCTCCAAGAGGAGAT ATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAG ATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGG AGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758713	T T	TATATATA others(187): Show TATATATATATATATCTCCAAGAGGAGATATATATATATATATATATATC TCCAAAAGGAGATATATATATATATATATCTCCAAGAGGAGATATATATA TATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	231	0.0043	194	c.-67 others(213): Show c.-67-48586_-67-48585insATATCTCCAAAAGGAGATATATATAT ATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATAT ATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGAT ATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAG ATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(187): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	60	0.0167	194	c.317 others(211): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGG CGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG GGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(187): Show AGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGCGGGGC GGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGG GAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0010 a0012c0014t0010	a0012c0014t0010g0255 a0012c0014t0010g0255	1	60	0.0167	194	c.317 others(211): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGGGGGGGGG CGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245198946	C C	CGGGGGAG others(187): Show CGGGGGAGGTGGGAGAGTGTGGTTGCTGAGCTGAGCTGAGCTGAGGCTGC AGTCCCAAGCGGGGGTGGGGGAGGTGAGGGGGGTGGGGGGTGGGGGGGGG TGGGGGATGGTGGGGGGGTGGGGTGGGGGGTGGGGGGGGGTGGGGGATGG TGGGGGGGTGGGGTGGGGGGTGGGGGGGTGGGCGGTGGGGGGGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0067 a0001c0007t0008g0067	1	52	0.0192	194	c.465 others(213): Show c.465+42271_465+42272insTGGGAGAGTGTGGTTGCTGAGCTGAG CTGAGCTGAGGCTGCAGTCCCAAGCGGGGGTGGGGGAGGTGAGGGGGGTG GGGGGTGGGGGGGGGTGGGGGATGGTGGGGGGGTGGGGTGGGGGGTGGGG GGGGGTGGGGGATGGTGGGGGGGTGGGGTGGGGGGTGGGGGGGTGGGCGG TGGGGGGGTGGGGGGAGG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124507698	G G	GGGGGGGT others(187): Show GGGGGGGTAGGGAGGATTTCAGGTCGGGGGGGTAGGGAGGATTTCAGGTG GGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	204	0.0049	194	c.625 others(211): Show c.625-9482_625-9481insGGGGGGTAGGGAGGATTTCAGGTCGGGG GGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGG GTAGGCAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTC	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LIPG_chr18_49557057_49604185	49579004	G G	GGGAGAGG others(187): Show GGGAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGG TAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTA GAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGA GGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0135 a0001c0001t0037g0135	1	380	0.0026	194	c.794 others(211): Show c.794-2411_794-2410insGGAGAGGTAGAGGTAGAGGTAGAGGTAG AGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAG GTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGT AGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAGAGGTAG AGGTAGAGGTAGAGGT	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9			chr18	TogoVar
LMF1_chr16_848634_975984	922519	A A	AGTTGCCT others(187): Show AGTTGCCTCGGTTTTCGGGTGTGACGTGGTGTTGGTGTCGTGTTGTTGCG AAGGCCCTGTGTGAAAGTCACCTGGGTTTTCGTGTGTGACGTGGTGTTGG CATCGCATTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCAGGT GTGATGTGGTGTTGGTGCGTGTTGTTGCGAAGGCCCTGTGTGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0011 a0011	a0011c0047 a0011c0047	a0011c0047t0010 a0011c0047t0010	a0011c0047t0010g0281 a0011c0047t0010g0281	1	275	0.0036	194	c.515 others(213): Show c.515-11441_515-11440insCTTCACACAGGGCCTTCGCAACAACA CGCACCAACACCACATCACACCTGAAAACCCAGGCGACTTTCACACAGGG CCTTCGCAACAATGCGATGCCAACACCACGTCACACACGAAAACCCAGGT GACTTTCACACAGGGCCTTCGCAACAACACGACACCAACACCACGTCACA CCCGAAAACCGAGGCAAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMF1_chr16_848634_975984	922519	A A	AGTTGCCT others(187): Show AGTTGCCTCGGTTTTCGGGTGTGACGTGGTGTTGGTGTCGTGTTGTTGCG AAGGCCCTGTGTGAAAGTCACCTGGGTTTTCGTGTGTGACGTGGTGTTGG CGTCGCATTGTTGCGAAGGCCCTGTGTGAAAGTCGCCTGGGTTTTCAGGT GTGATGTGGTGTTGGTGCGTGTTGTTGCGAAGGCCCTGTGTGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01258.hp2 others(6): Show HG00741.hp2 HG01071.hp1 HG01258.hp2 HG01978.hp1 HG02300.hp1 HG02683.hp1 HG03130.hp2 HG04204.hp1 NA18906.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0010 a0001c0033 a0002c0007 others(2): Show a0001c0010 a0001c0033 a0002c0007 a0002c0035 a0004c0034	a0001c0010t0001 a0001c0033t0001 a0002c0007t0001 others(2): Show a0001c0010t0001 a0001c0033t0001 a0002c0007t0001 a0002c0035t0001 a0004c0034t0015	a0001c0010t0001g0112 a0001c0010t0001g0271 a0001c0010t0001g0272 others(6): Show a0001c0010t0001g0112 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0276 a0001c0010t0001g0277 a0001c0033t0001g0274 a0002c0007t0001g0120 a0002c0035t0001g0280 a0004c0034t0015g0273	9	283	0.0318	194	c.515 others(213): Show c.515-11441_515-11440insCTTCACACAGGGCCTTCGCAACAACA CGCACCAACACCACATCACACCTGAAAACCCAGGCGACTTTCACACAGGG CCTTCGCAACAATGCGACGCCAACACCACGTCACACACGAAAACCCAGGT GACTTTCACACAGGGCCTTCGCAACAACACGACACCAACACCACGTCACA CCCGAAAACCGAGGCAAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMF1_chr16_848634_975984	953288	C C	CACCCACT others(187): Show CACCCACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAA ACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTA CACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTTCACACA GACACGGACCCCAAACCAGCCTCCTACACGTTCACACAGACACGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG01071.hp2 others(28): Show HG00544.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01891.hp1 HG02074.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02896.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03486.hp1 HG03490.hp2 HG03669.hp1 HG03831.hp2 HG04199.hp2 HG04228.hp1 NA18946.hp2 NA18982.hp1 NA19002.hp2 NA20905.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0002 a0001c0004 a0001c0005 others(7): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0044 a0001c0067 a0002c0017 a0019c0042	a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 others(9): Show a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0013t0014 a0001c0044t0001 a0001c0067t0001 a0002c0017t0001 a0019c0042t0001	a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 others(28): Show a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0033 a0001c0002t0001g0045 a0001c0002t0001g0051 a0001c0002t0001g0053 a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0006g0048 a0001c0004t0001g0064 a0001c0004t0001g0078 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0006t0001g0073 a0001c0006t0001g0092 a0001c0006t0001g0286 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0002g0287 a0001c0006t0002g0288 a0001c0008t0001g0056 a0001c0008t0001g0074 a0001c0013t0014g0022 a0001c0044t0001g0034 a0001c0067t0001g0075 a0002c0017t0001g0080 a0019c0042t0001g0083	31	284	0.1092	194	c.503 others(211): Show c.503+1068_503+1069insCCGTGTCTGTGTGAACGTGTAGGAGGCT GGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTCC GTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGG ACGTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGG CTGGTTTGGAGTGGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953291	C C	CCACCCCA others(187): Show CCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACC AGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGAC ACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0272 a0001c0010t0001g0272	1	240	0.0042	194	c.503 others(211): Show c.503+1065_503+1066insAGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGG TGGGTGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTG TGGACGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGG AGGCTGGTTTGGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953511	A A	ACACCCAC others(187): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACTCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCT ACACGTTCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0168 a0001c0013t0001g0168	1	227	0.0044	194	c.503 others(209): Show c.503+845_503+846insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG TCTGTGTGAACGTGTAGGAAGCTGGTTTGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953512	C C	CACCCACT others(187): Show CACCCACTCCAAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAA ACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTG CACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACGTCCACACA GACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACACGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03579.hp2 NA18967.hp1 others(2): Show HG02723.hp1 HG03579.hp2 NA18967.hp1 NA18973.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0016 a0001c0002 a0002c0016	a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0002c0016t0001	a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0002g0282 others(2): Show a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0002g0282 a0001c0002t0011g0292 a0002c0016t0001g0063	5	237	0.0211	194	c.503 others(209): Show c.503+844_503+845insCCGTGTCTGTGTGAACGTGTAGGAGGCTGG TTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTGGGT GTCTGTGTGGACGTGCAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAAC GTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCT GGTTTGGAGTGGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953545	A A	ACACAGAC others(187): Show ACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCG CACCAGCTTCCTACATGTCCACACAGACACCCACCCCGCACCAGCTTCCT ACATGTCCACACAGACACCCACCCCGCACCAGCTTCCTACATGTCCACAC AGACACCCACCCCGCACCAGCTTCCTACATGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0015 a0003c0014t0001g0015	1	215	0.0047	194	c.503 others(209): Show c.503+811_503+812insGGTGTCTGTGTGGACATGTAGGAAGCTGGT GCGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGCGGGGTGGGTG TCTGTGTGGACATGTAGGAAGCTGGTGCGGGGTGGGTGTCTGTGTGGACA TGTAGGAAGCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTG GTTTCGGGTCTGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACCCAC others(187): Show ACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCA AACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACAC AGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0289 a0001c0006t0001g0289	1	179	0.0056	194	c.503 others(209): Show c.503+705_503+706insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTG TCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATG TGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar

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