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
DUS3L_chr19_5780140_5796163	5796141	T T	TTCTTCTT others(92): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	362	0.0028	99	c.-50 others(110): Show c.-5001_-5000insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGA	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4979		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172122	C C	CGGGGGCG others(92): Show CGGGGGCGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGG CGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCGGGGGCGCGCGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0343 a0001c0001t0002g0343	1	393	0.0025	99	c.-46 others(110): Show c.-4680_-4679insCGCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCG CCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCGCCCCCGCGCGCCCCCGCC CCCGCGCGCGCCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4638		chr19	TogoVar
DYSF_chr2_71448561_71691763	71663024	C C	CGTGTGTG others(92): Show CGTGTGTGTGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCA TGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19087.hp1 HG01978.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0012t0001 a0001c0001t0002 a0001c0012t0001	a0001c0001t0002g0177 a0001c0012t0001g0128 a0001c0001t0002g0177 a0001c0012t0001g0128	2	186	0.0108	99	c.488 others(118): Show c.4887-1227_4887-1226insTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	44/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71663024	C C	CGTGTGTG others(92): Show CGTGTGTGTGTGTGTGTGTGTGCATATTTGTGTGTGTATGTCTGTGTCCA TGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTTACGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01978.hp1 HG02148.hp2 HG01433.hp2 HG01978.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0001 a0001c0013t0001 a0001c0002t0001 a0001c0013t0001	a0001c0002t0001g0017 a0001c0002t0001g0048 a0001c0013t0001g0057 a0001c0002t0001g0017 a0001c0002t0001g0048 a0001c0013t0001g0057	3	202	0.0149	99	c.500 others(118): Show c.5004-1227_5004-1226insTGTGCATATTTGTGTGTGTATGTCTG TGTCCATGTGTCTGCATATGTGTGTGGTGTGTGTATATTTGTGTATGTTT ACGTGTGTGTGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	45/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZIP3_chr3_108584722_108699840	108633862	G G	GTACTTCT others(92): Show GTACTTCTGATAGATCTCTCTGGATCTATCAGAGTACTTCTGATAGATCT CTCTGGATCTATCAGAATACTTCTGATAGATCTCTCTGGATCTATCAGAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0184 a0001c0008t0001g0184	1	103	0.0097	99	c.816 others(114): Show c.816+822_816+823insGTACTTCTGATAGATCTCTCTGGATCTATC AGAATACTTCTGATAGATCTCTCTGGATCTATCAGAATACTTCTGATAGA TCTCTCTGGATCTATCAGA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	9/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EFR3B_chr2_25037076_25164135	25041603	C C	CACCTAGC others(92): Show CACCTAGCCAGAGAGTGGCTGGGCACCTAGCCAGAGAGTAGCTGGTAGGG CGCAGCTGAGGGCTGGAGGGCTTCATCAGAGAACGGCGCTCAGCTAAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03453.hp1 NA19043.hp2 HG03225.hp1 HG03453.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0030 a0001c0001t0001 a0001c0001t0004 a0001c0001t0030	a0001c0001t0001g0129 a0001c0001t0004g0154 a0001c0001t0030g0125 a0001c0001t0001g0129 a0001c0001t0004g0154 a0001c0001t0030g0125	3	304	0.0099	99	c.-71 others(108): Show c.-710_-709insACCTAGCCAGAGAGTGGCTGGGCACCTAGCCAGAGA GTAGCTGGTAGGGCGCAGCTGAGGGCTGGAGGGCTTCATCAGAGAACGGC GCTCAGCTAAGGT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding		472		chr2	TogoVar
EFR3B_chr2_25037076_25164135	25161587	C C	CGCCGCTG others(92): Show CGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG CTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0173 a0001c0001t0005g0173	1	271	0.0037	99	c.72 others(110): Show c.7247_*7248insGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTG CTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCC GCTGCTGCCGCTGCT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding		2453		chr2	TogoVar
EHMT1_chr9_137614005_137841127	137781303	C C	CGCCGAGA others(92): Show CGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCTGGGA TGTGTGGTGATGACGCTGAGACGTGTGATGACGACGCTGGGACGTGTGGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02723.hp2 HG01169.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0081 a0001c0004t0001g0097 a0001c0004t0001g0081 a0001c0004t0001g0097	2	168	0.0119	99	c.227 others(116): Show c.2276-987_2276-986insCCGAGACGTGTGGTGATGACGCCGAGAC GTGTGGTGATGACGCTGGGATGTGTGGTGATGACGCTGAGACGTGTGATG ACGACGCTGGGACGTGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3310767	T T	TGTACTTG others(92): Show TGTACTTGTGTATGCTATGTCTCAATGGTATACAAATATTTAAAATTATT TTATATACTAAACTTTGTTACACTGATAAATATTTTATGATTCCCCCAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	248	0.0040	99	c.259 others(118): Show c.259+27151_259+27249dupTTTGGGGGAATCATAAAATATTTATC AGTGTAACAAAGTTTAGTATATAAAATAATTTTAAATATTTGTATACCAT TGAGACATAGCATACACAAGTAC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(92): Show TAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(105): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01975.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0009	a0001c0001 a0002c0002 a0003c0004 others(5): Show a0001c0001 a0002c0002 a0003c0004 a0003c0016 a0003c0018 a0007c0015 a0008c0017 a0009c0010	a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 others(5): Show a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 a0003c0016t0001 a0003c0018t0003 a0007c0015t0002 a0008c0017t0004 a0009c0010t0001	a0001c0001t0001g0124 a0002c0002t0002g0003 a0002c0002t0002g0004 others(102): Show a0001c0001t0001g0124 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0114 a0002c0002t0002g0121 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0185 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0228 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0286 a0002c0002t0002g0313 a0002c0002t0002g0317 a0002c0002t0002g0319 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0349 a0002c0002t0002g0351 a0003c0004t0001g0008 a0003c0004t0001g0182 a0003c0004t0001g0192 a0003c0004t0001g0193 a0003c0004t0001g0198 a0003c0004t0001g0204 a0003c0004t0001g0212 a0003c0004t0001g0224 a0003c0004t0001g0225 a0003c0004t0001g0226 a0003c0004t0001g0227 a0003c0004t0001g0230 a0003c0016t0001g0057 a0003c0018t0003g0026 a0007c0015t0002g0025 a0008c0017t0004g0050 a0009c0010t0001g0307	108	113	0.9558	99	c.253 others(116): Show c.253+3292_253+3293insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(92): Show TAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0157 a0001c0003t0001g0157	1	6	0.1667	99	c.253 others(116): Show c.253+3292_253+3293insCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(92): Show TAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	6	0.1667	99	c.253 others(116): Show c.253+3292_253+3293insCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(92): Show TAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	6	0.1667	99	c.253 others(116): Show c.253+3292_253+3293insCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955543	T T	TAGGTGGG others(92): Show TAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGG	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	6	0.1667	99	c.253 others(116): Show c.253+3292_253+3293insCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955547	T T	TGGGGGGG others(92): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	358	0.0028	99	c.253 others(116): Show c.253+3288_253+3289insCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCC	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF1_chr13_40926924_41024316	40955547	T T	TGGGGGGG others(92): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	358	0.0028	99	c.253 others(116): Show c.253+3288_253+3289insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCC	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
EMC10_chr19_50471507_50495871	50493650	T T	TGAGACTC others(92): Show TGAGACTCCTGGGGGAAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGC TTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0001 a0001c0001t0107g0001	1	350	0.0029	99	c.11 others(112): Show c.11391_*11392insGAGACTCCTGGGGGAAACCTAAACCCCTTCCA TCTGGAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCG GTGGAGTGGAAGGGGCA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2780		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(92): Show GACTCCTGGGGGAAACCTAAAACCCCTTCCATCTGGAAGGTTTGGAGCTT CCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0167 a0001c0001t0167	a0001c0001t0167g0001 a0001c0001t0167g0001	1	3	0.3333	99	c.11 others(112): Show c.11394_*11395insACTCCTGGGGGAAACCTAAAACCCCTTCCATC TGGAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGAGTCGGT GGAGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(92): Show GACTCCTGGGGGAAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGCTTC CACCGCTGAGAAGGAAAAAAAAAGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG06807.hp2 HG02257.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0145 a0001c0001t0111 a0001c0001t0145	a0001c0001t0111g0001 a0001c0001t0145g0013 a0001c0001t0111g0001 a0001c0001t0145g0013	2	4	0.5000	99	c.11 others(112): Show c.11394_*11395insACTCCTGGGGGAAACCTAAACCCCTTCCATCT GGAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAAGGGAGTCGGT GGAGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EMC10_chr19_50471507_50495871	50493653	G G	GACTCCTG others(92): Show GACTCCTGGGGGAAACCTAAACCCCTTCCATCTGGAAGGTTTGGAGCTTC CACCGCTGAGAAGGAAAAAAAAGGGGAGTCGGTGGAGTGGAAGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	3	0.3333	99	c.11 others(112): Show c.11394_*11395insACTCCTGGGGGAAACCTAAACCCCTTCCATCT GGAAGGTTTGGAGCTTCCACCGCTGAGAAGGAAAAAAAAGGGGAGTCGGT GGAGTGGAAGGGGCAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		2783		chr19	TogoVar
EML1_chr14_99788413_99947060	99928123	A A	AGGTGGTG others(92): Show AGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0109 a0003c0002t0006g0109	1	179	0.0056	99	c.190 others(118): Show c.1909+7257_1909+7258insAGGTGGTGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928179	G G	GTGATGGT others(92): Show GTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0008 a0003c0002t0008	a0003c0002t0008g0238 a0003c0002t0008g0238	1	254	0.0039	99	c.190 others(118): Show c.1909+7304_1909+7305insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EPHA8_chr1_22558489_22608595	22599696	G G	GAGGAAGG others(92): Show GAGGAAGGGGGAGGGAAAAGAAAGGAGGGAAGGAAGGAGAAAGAAGAAAG GAAGGGAAGGGGAGGGAAGAGGAGAGGAGGGGAGGGAAGGGAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02486.hp1 HG02622.hp1 others(1): Show HG00642.hp1 HG02486.hp1 HG02622.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0009 a0004c0014t0015 a0001c0001t0009 a0004c0014t0015	a0001c0001t0009g0067 a0004c0014t0015g0028 a0004c0014t0015g0295 a0001c0001t0009g0067 a0004c0014t0015g0028 a0004c0014t0015g0295	4	326	0.0123	99	c.238 others(116): Show c.2388+652_2388+653insAAGGGGGAGGGAAAAGAAAGGAGGGAAG GAAGGAGAAAGAAGAAAGGAAGGGAAGGGGAGGGAAGAGGAGAGGAGGGG AGGGAAGGGAGGAAGGGAAGG	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
EQTN_chr9_27279654_27302150	27301690	T T	TTTTTTTT others(92): Show TTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTATTATTTTTTTTTT ATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	444	0.0023	99	c.-46 others(110): Show c.-4636_-4635insTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAATAATAAAAAAAAAATAATAAAAAAAAAAAAAAAAAAAA AAATAAAAAAAAAAA	EQTN	ENSG00000120160.11	transcript	ENST00000380032.8	protein_coding		4541		chr9	TogoVar
ERBB4_chr2_211370717_212543802	211981039	T T	TGGCCGGG others(92): Show TGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01192.hp2 HG03834.hp1 HG01175.hp1 HG01192.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0015 a0001c0002t0001 a0001c0001t0002 a0001c0001t0015 a0001c0002t0001	a0001c0001t0002g0032 a0001c0001t0015g0034 a0001c0002t0001g0031 a0001c0001t0002g0032 a0001c0001t0015g0034 a0001c0002t0001g0031	3	56	0.0536	99	c.235 others(118): Show c.235-33424_235-33423insCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERICH1_chr8_659200_736224	700237	C C	CCGCACAG others(92): Show CCGCACAGGCCCGCACAGGCGCACAGACCCGCACAGGCCCGGACACGCGC ACAGGCCCTCACAGGCCACAGACCCGCACAGGCGCACAGACCCGCACAGG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	351	0.0028	99	c.170 others(116): Show c.170-7626_170-7625insCCTGTGCGGGTCTGTGCGCCTGTGCGGG TCTGTGGCCTGTGAGGGCCTGTGCGCGTGTCCGGGCCTGTGCGGGTCTGT GCGCCTGTGCGGGCCTGTGCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERP44_chr9_99974185_100104000	100101010	T T	TTATATAT others(92): Show TTATATATATAATATATATGTATATATAATATATATATATATTATATATA TAATATATATGTATATATATTATATATATAATATATATGTATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0070 a0001c0001t0015g0070	1	218	0.0046	99	c.-21 others(110): Show c.-2171_-2170insTATTATATATACATATATATTATATATATAATAT ATATACATATATATTATATATATAATATATATATATATTATATATACATA TATATTATATATATA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		2011		chr9	TogoVar
EXD1_chr15_41177728_41235757	41199757	T T	TATATGAT others(92): Show TATATGATATATATCATATATGATATATATCATATATGATATATAATATA TCATATATGTGATATATAATATATCATATATATGATATATGTAATATATC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	41	0.0244	99	c.535 others(116): Show c.535-3721_535-3720insGATATATTACATATATCATATATATGAT ATATTATATATCACATATATGATATATTATATATCATATATGATATATAT CATATATGATATATATCATAT	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding	7/11			chr15	TogoVar
EXD3_chr9_137301896_137428162	137355621	G G	GGAGAAAG others(92): Show GGAGAAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGAAAGGGAGGATGGAGGAAGGAGAAGGGAGGAAGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0030 a0030	a0030c0026 a0030c0026	a0030c0026t0001 a0030c0026t0001	a0030c0026t0001g0033 a0030c0026t0001g0033	1	50	0.0200	99	c.757 others(114): Show c.757+646_757+647insTTCCTCCTTCCTCCTTCCTCCCTTCTCCTT CCTCCATCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCCTTCCTCCTTTCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXOC2_chr6_480154_698139	501447	C C	CTATATAT others(92): Show CTATATATATTATATATATATTATATATCTATATATATTATATATATATT ATATATCTATATATATTATATATATATTATATATATCTATATATATTATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	150	0.0067	99	c.238 others(118): Show c.2381-1748_2381-1747insTATAATATATATAGATATATATAATA TATATATAATATATATAGATATATAATATATATATAATATATATAGATAT ATAATATATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501492	T T	TATATCTA others(92): Show TATATCTATATATATTATATATATATATTATATATATCTATATATATTAT ATATATATTATATATATCTATATATATTATATATATATTATATATATCTA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	153	0.0065	99	c.238 others(118): Show c.2381-1793_2381-1792insTAGATATATATAATATATATATAATA TATATAGATATATATAATATATATATAATATATATAGATATATATAATAT ATATATATAATATATATAGATAT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	501566	A A	ATATATAT others(92): Show ATATATATATTATATATATCTATATATATTATATATATTATATATATCTA TATATATTATATATATCTATATATATTATATATAATATATAGATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18948.hp2 NA18972.hp1 others(4): Show HG00408.hp1 NA18948.hp2 NA18972.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0105 others(4): Show a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0252 a0001c0003t0001g0062	7	92	0.0761	99	c.238 others(118): Show c.2381-1867_2381-1866insATATATATCTATATATTATATATAAT ATATATAGATATATATAATATATATAGATATATATAATATATATAATATA TATAGATATATATAATATATATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	522299	T T	TTGAGCTG others(92): Show TTGAGCTGGGCTGGGCACAGGTGAAATGATGGTACAGCAAGGTGTCTCCA GGCCTCAGCCAGGCCCATGCGGACTGCAGGACAGCGTGTGGGGAGCACTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0155 a0001c0003t0002g0155	1	270	0.0037	99	c.238 others(120): Show c.2380+10071_2380+10169dupCAGTGCTCCCCACACGCTGTCCTG CAGTCCGCATGGGCCTGGCTGAGGCCTGGAGACACCTTGCTGTACCATCA TTTCACCTGTGCCCAGCCCAGCTCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAIM_chr3_138603771_138638376	138609533	A A	ACTCTCTC others(92): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	324	0.0031	99	c.-17 others(114): Show c.-17+639_-17+640insTCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609535	T T	TCTCTCTC others(92): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTC TCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01516.hp2 HG03942.hp1 HG01256.hp1 HG01516.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287	3	176	0.0170	99	c.-17 others(114): Show c.-17+639_-17+640insTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609537	T T	TCTCTCTC others(92): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0315 a0002c0002t0001g0315	1	342	0.0029	99	c.-17 others(114): Show c.-17+639_-17+640insTCTCTCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609541	T T	TCTCTCTC others(92): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp1 HG02258.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0331 a0002c0002t0001g0332 a0001c0001t0001g0331 a0002c0002t0001g0332	2	344	0.0058	99	c.-17 others(114): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCCCTCTCTCCCTCTC TCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609543	T T	TCTCTCTC others(92): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0336 a0003c0003t0001g0336	1	339	0.0029	99	c.-17 others(114): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM53A_chr4_1634887_1689313	1666273	A A	AGCCTGCA others(92): Show AGCCTGCACCTGCACACCCTGTATCTAAAATAAAACCTGCACCCCCTGTA TCTAAAATAAAACCTGCACCTGCACCCCCTGTATCTAAAATAAAACCTGC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0014 a0012c0009t0014	a0012c0009t0014g0014 a0012c0009t0014g0014	1	288	0.0035	99	c.75+ others(114): Show c.75+2393_75+2394insGCAGGTTTTATTTTAGATACAGGGGGTGCA GGTGCAGGTTTTATTTTAGATACAGGGGGTGCAGGTTTTATTTTAGATAC AGGGTGTGCAGGTGCAGGC	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	2/4			chr4	TogoVar
FBXO25_chr8_401958_482967	426891	C C	CGTGTTAG others(92): Show CGTGTTAGATATTTAGGAAGGAAATGTTAATTCTGAAAATAGGTTTCACA TCTTTTTTTTAACTTATATAAAATTGACTGGACTTTCTCTTCTGTGTGTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00621.hp1 others(51): Show HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG02071.hp1 HG02145.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp2 NA18995.hp1 NA19004.hp1 NA19011.hp1 NA19043.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0047 a0001c0001t0104 a0001c0001t0112 a0001c0001t0114 a0001c0001t0117 a0001c0001t0118 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0138 a0001c0009t0008 a0002c0002t0001 a0002c0002t0007 a0002c0002t0039 a0002c0002t0079 a0002c0002t0096	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0229 others(46): Show a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0229 a0001c0001t0002g0248 a0001c0001t0007g0241 a0001c0001t0007g0243 a0001c0001t0007g0250 a0001c0001t0007g0251 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0008g0011 a0001c0001t0008g0026 a0001c0001t0008g0228 a0001c0001t0008g0232 a0001c0001t0008g0234 a0001c0001t0008g0235 a0001c0001t0008g0255 a0001c0001t0011g0230 a0001c0001t0011g0258 a0001c0001t0011g0260 a0001c0001t0018g0012 a0001c0001t0018g0320 a0001c0001t0047g0254 a0001c0001t0047g0311 a0001c0001t0104g0244 a0001c0001t0112g0318 a0001c0001t0114g0242 a0001c0001t0117g0236 a0001c0001t0118g0246 a0001c0001t0121g0238 a0001c0001t0122g0245 a0001c0001t0123g0256 a0001c0001t0124g0085 a0001c0001t0125g0249 a0001c0001t0126g0247 a0001c0001t0138g0264 a0001c0009t0008g0231 a0002c0002t0001g0146 a0002c0002t0001g0148 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0007g0213 a0002c0002t0039g0149 a0002c0002t0079g0147 a0002c0002t0096g0078	54	410	0.1317	99	c.135 others(116): Show c.135-4420_135-4419insTCTGAAAATAGGTTTCACATCTTTTTTT TAACTTATATAAAATTGACTGGACTTTCTCTTCTGTGTGTTGTGTTAGAT ATTTAGGAAGGAAATGTTAAT	FBXO25	ENSG00000147364.17	transcript	ENST00000350302.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
FBXO34_chr14_55266421_55358611	55331769	A A	ATACACCA others(92): Show ATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACCGTGGT GTATATATAAAAATGTATATATACACCACCGTGGTGTATATATAAAAATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0006 a0004c0011t0006	a0004c0011t0006g0322 a0004c0011t0006g0322	1	325	0.0031	99	c.-10 others(118): Show c.-10-18610_-10-18609insCACCACCGTGGTGTATATATAAAAAT GTATATATACACCACCGTGGTGTATATATAAAAATGTATATATACACCAC CGTGGTGTATATATAAAAATGTA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FGD6_chr12_95071749_95222467	95148494	A A	AATATAAT others(92): Show AATATAATATATAGCATATATTATATTATATATTATATAATATATAGCAT ATATTATATTATATATTATATAATATATAGCATATATTATATTATATATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00673.hp1 others(32): Show HG00558.hp1 HG00609.hp1 HG00673.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02132.hp1 HG02165.hp1 NA18747.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18968.hp1 NA18971.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19088.hp2 NA19090.hp1	a0003 a0004 a0008 others(1): Show a0003 a0004 a0008 a0014	a0003c0004 a0004c0008 a0008c0017 others(1): Show a0003c0004 a0004c0008 a0008c0017 a0014c0021	a0003c0004t0004 a0003c0004t0014 a0003c0004t0034 others(5): Show a0003c0004t0004 a0003c0004t0014 a0003c0004t0034 a0003c0004t0075 a0004c0008t0004 a0004c0008t0014 a0008c0017t0004 a0014c0021t0004	a0003c0004t0004g0335 a0003c0004t0004g0336 a0003c0004t0004g0337 others(32): Show a0003c0004t0004g0335 a0003c0004t0004g0336 a0003c0004t0004g0337 a0003c0004t0004g0338 a0003c0004t0004g0339 a0003c0004t0004g0340 a0003c0004t0004g0341 a0003c0004t0004g0342 a0003c0004t0004g0345 a0003c0004t0004g0346 a0003c0004t0004g0347 a0003c0004t0004g0348 a0003c0004t0004g0349 a0003c0004t0004g0350 a0003c0004t0004g0352 a0003c0004t0004g0355 a0003c0004t0004g0356 a0003c0004t0004g0367 a0003c0004t0004g0368 a0003c0004t0004g0369 a0003c0004t0004g0370 a0003c0004t0004g0371 a0003c0004t0014g0351 a0003c0004t0014g0372 a0003c0004t0034g0354 a0003c0004t0034g0357 a0003c0004t0075g0353 a0004c0008t0004g0360 a0004c0008t0004g0363 a0004c0008t0014g0359 a0004c0008t0014g0361 a0004c0008t0014g0362 a0008c0017t0004g0364 a0008c0017t0004g0365 a0014c0021t0004g0334	35	208	0.1683	99	c.268 others(118): Show c.2685+4316_2685+4317insAATATATAATATAATATATGCTATAT ATTATATAATATATAATATAATATATGCTATATATTATATAATATATAAT ATAATATATGCTATATATTATAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGFR4_chr5_177081915_177103144	177097019	C C	CTCCTCCT others(92): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02155.hp2 HG02683.hp1 others(3): Show HG01516.hp2 HG02155.hp2 HG02683.hp1 HG02698.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0007 a0002c0002t0004g0007 a0002c0002t0001g0007 a0002c0002t0004g0007	6	357	0.0168	99	c.215 others(116): Show c.2154-262_2154-261insCTCCTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTC CTCCTCCTCTTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097022	C C	CTCCTCCT others(92): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0099	1	344	0.0029	99	c.215 others(116): Show c.2154-262_2154-261insCTCCTCCTCCTCCTCCTCTTCCTCCTCC TCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCTTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097022	C C	CTCCTCCT others(92): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18999.hp1 NA19002.hp1 HG00609.hp1 NA18999.hp1 NA19002.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0008 a0002c0002 a0005c0008	a0002c0002t0001 a0005c0008t0001 a0002c0002t0001 a0005c0008t0001	a0002c0002t0001g0025 a0005c0008t0001g0025 a0002c0002t0001g0025 a0005c0008t0001g0025	3	346	0.0087	99	c.215 others(116): Show c.2154-262_2154-261insCTCCTCCTCCTCCTCCTCTTCCTCCTCC TCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTC CTCCTCCTCCTCTTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097025	C C	CTTCTCTT others(92): Show CTTCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTT CCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCCTCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0068 a0003c0005t0002g0068	1	369	0.0027	99	c.215 others(116): Show c.2154-266_2154-265insTCTCTTCCTCCTCCTCTTCCTCCTCCTC CTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCT GCTCCTCCTCCTCCTCCTCTT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097078	C C	CCTCCTCC others(92): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp2 HG01361.hp2 HG01433.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0004 a0003c0004t0003g0004	2	294	0.0068	99	c.215 others(116): Show c.2154-212_2154-211insCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CTTCCTCCTTCTCCTCCTGCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097078	C C	CTTCCTCC others(92): Show CTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	293	0.0034	99	c.215 others(116): Show c.2154-214_2154-213insTTCCTCCTCCTCCTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTC CTCTTCCTCCTTCTCCTCCTG	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17			chr5	TogoVar
FGL1_chr8_17859389_17900524	17882944	T T	TAATATAT others(92): Show TAATATATAATATATCTCATATATAATATATTAAATAATATATAATATAT ATCATATATAATATATTAAATATATAATATATATCATATATAATATATTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	362	0.0028	99	c.64- others(112): Show c.64-766_64-765insTAATATATTATATATGATATATATTATATATT TAATATATTATATATGATATATATTATATATTATTTAATATATTATATAT GAGATATATTATATATT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FHIT_chr3_59742277_61256452	60280991	T T	TCAGGATA others(92): Show TCAGGATAAAATTTTTCTTTTATCCTGAAAAAAACAGGATAAAATTTTTC TTTTATCCTGAAAAAAACAGGATAAAATTTTTCTTTTATCCTGAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG01109.hp1 others(11): Show HG00639.hp2 HG00735.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01981.hp1 HG01981.hp2 HG02280.hp2 HG02300.hp2 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0003t0004	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0034 others(11): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0002g0002 a0001c0001t0002g0037 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0004g0043 a0001c0001t0009g0040 a0001c0001t0014g0017 a0001c0001t0015g0009 a0001c0002t0001g0030 a0001c0003t0004g0038	14	18	0.7778	99	c.103 others(120): Show c.103+255868_103+255869insTTTTTTTCAGGATAAAAGAAAAAT TTTATCCTGTTTTTTTCAGGATAAAAGAAAAATTTTATCCTGTTTTTTTC AGGATAAAAGAAAAATTTTATCCTG	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	5/9			chr3	TogoVar

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