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
ERICH1_chr8_659200_736224	676225	CGGCGAGG others(76): Show CGGCGAGGACAGAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02486.hp2 HG02717.hp2 others(2): Show HG01934.hp2 HG02486.hp2 HG02717.hp2 HG02809.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0001g0156 a0001c0001t0001g0207 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0156 a0001c0001t0001g0207 a0001c0001t0002g0258 a0001c0001t0002g0292	5	378	0.0132	-83	c.305 others(100): Show c.305-2261_305-2179delCGAGGGGGCGCCGCGTCTCTGTCCTCAC GAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGCCTCTGTCC TCGCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676255	TGAGGACA others(76): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	378	0.0027	-83	c.305 others(100): Show c.305-2291_305-2209delGCCGAGGGGCCGCCGCGTCTCTGTCCTC GCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTG TCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676335	CGGCGAGG others(76): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG03579.hp1 others(3): Show HG02280.hp1 HG02809.hp2 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0359 others(3): Show a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0363 a0001c0001t0002g0364	6	378	0.0159	-83	c.305 others(100): Show c.305-2371_305-2289delCGAGGGGGCGCCGCGTCTCTGTCCTCAC GAGGGGCCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTGTCC TCGCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676365	TGAGGACA others(76): Show TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCC CTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02109.hp2 HG02258.hp2 others(5): Show HG01070.hp1 HG02109.hp2 HG02258.hp2 HG02615.hp1 HG02723.hp2 HG03471.hp1 HG03516.hp1 HG03688.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0003c0004t0001 a0005c0007t0001	a0001c0001t0001g0158 a0001c0001t0002g0260 a0001c0001t0002g0267 others(5): Show a0001c0001t0001g0158 a0001c0001t0002g0260 a0001c0001t0002g0267 a0001c0002t0002g0340 a0003c0004t0001g0078 a0005c0007t0001g0238 a0005c0007t0001g0239 a0005c0007t0001g0240	8	378	0.0212	-83	c.305 others(100): Show c.305-2401_305-2319delGCCGAGGGGCCGCCGCGTCTCTGTCCTC GCCGAGGGGGCGCCGCGTCTCTGTCCTCACGAGGGGCCGCCGCGTCTCTG TCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073462	ATATATAT others(76): Show ATATATATATATATATATATATATGTATATATATATATATATATATATAT ATATGTATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02145.hp2 others(3): Show HG01515.hp2 HG01517.hp1 HG02145.hp2 HG02615.hp2 HG03453.hp1 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0001 a0003c0003t0004 a0001c0001t0002 a0002c0002t0001 a0003c0003t0004	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0429 others(3): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0429 a0001c0001t0002g0430 a0002c0002t0001g0023 a0003c0003t0004g0025	6	442	0.0136	-83	c.58+ others(98): Show c.58+8736_58+8818delTATATATATATATATATATATATGTATATA TATATATATATATATATATATATGTATATATATATATATATATATATATA TAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2			chr8	TogoVar
ERVK3-1_chr19_58300377_58321812	58300598	AGTGGATG others(76): Show AGTGGATGATGGAGGCAGCTAGCCGTAGCTGCTGCTTTTCTCTTCAAGCT CTTGGGAGAATTGCTTGTGCTCCCTATTCCCTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	424	0.0024	-83	c.-49 others(94): Show c.-4979_-4897delGTGGATGATGGAGGCAGCTAGCCGTAGCTGCTGC TTTTCTCTTCAAGCTCTTGGGAGAATTGCTTGTGCTCCCTATTCCCTTG	ERVK3-1	ENSG00000142396.11	transcript	ENST00000413518.6	protein_coding		4778		chr19	TogoVar
ETNPPL_chr4_108737053_108768053	108747173	TATATATA others(76): Show TATATATAATATATATATATATTATATATATATATAATATATATATATAT ATTATATATATATATATAATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03654.hp1 HG03654.hp2 others(1): Show HG01243.hp1 HG03654.hp1 HG03654.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0296 a0002c0002t0001g0272 a0002c0002t0001g0273 others(1): Show a0001c0001t0001g0296 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0305	4	378	0.0106	-83	c.108 others(100): Show c.1083-405_1083-323delTAATATATATATATATTATATATATATA TATAATATATATATATATATTATATATATATATAATATATATATATATTA TATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128584994	GGAAGGAA others(76): Show GGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAAAGAAAGAAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01123.hp1 others(12): Show HG00140.hp2 HG00558.hp1 HG01123.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02148.hp2 HG02258.hp2 HG02451.hp2 NA18906.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0011 a0001c0002t0012 a0001c0002t0017	a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0204 others(12): Show a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0204 a0001c0001t0001g0238 a0001c0001t0006g0094 a0001c0001t0006g0205 a0001c0001t0016g0145 a0001c0001t0025g0229 a0001c0002t0001g0095 a0001c0002t0002g0142 a0001c0002t0003g0059 a0001c0002t0004g0096 a0001c0002t0011g0068 a0001c0002t0012g0060 a0001c0002t0017g0198	15	286	0.0525	-83	c.-15 others(100): Show c.-15+2411_-15+2493delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTCTTTCCTTTCTTTCCTT CCTTC	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
EXOC3_chr5_438176_472290	469479	GGTGTCAG others(76): Show GGTGTCAGCGGGCCCTTCTGTCCCTGTGAGGACCTCACAAGGCTGGCCCA CGGGCCCCATGCAGTGCAGGTGGGAGAGGTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-83	c.25 others(94): Show c.2582_*2664delGTGTCAGCGGGCCCTTCTGTCCCTGTGAGGACCT CACAAGGCTGGCCCACGGGCCCCATGCAGTGCAGGTGGGAGAGGTGGGA	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		2190		chr5	TogoVar
EXPH5_chr11_108500435_108598768	108586491	TCCCCTTT others(76): Show TCCCCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03471.hp1 HG02895.hp1 HG03471.hp1	a0022 a0033 a0022 a0033	a0022c0020 a0033c0027 a0022c0020 a0033c0027	a0022c0020t0002 a0033c0027t0041 a0022c0020t0002 a0033c0027t0041	a0022c0020t0002g0021 a0033c0027t0041g0116 a0022c0020t0002g0021 a0033c0027t0041g0116	2	314	0.0064	-83	c.119 others(100): Show c.119+6844_119+6926delGTGGGGGAGGGAGGAAAGGGGATGGGGG AGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGAGGATGGGGAGGGAGGAA AGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586535	CCTTTCCT others(76): Show CCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCT CCCTCCCCCATCCCCTTTCCTCCCTCCCCATCCT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01257.hp2 HG00621.hp1 HG01257.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0018 a0001c0001t0002 a0004c0004t0018	a0001c0001t0002g0129 a0004c0004t0018g0128 a0001c0001t0002g0129 a0004c0004t0018g0128	2	314	0.0064	-83	c.119 others(100): Show c.119+6800_119+6882delAGGATGGGGAGGGAGGAAAGGGGATGGG GGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAG GAAAG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
FAM53A_chr4_1634887_1689313	1650046	CGTTTGAC others(76): Show CGTTTGACTGTGAGGTGGCACAGGCGTGGTGTTTGTGAGGTGGCACAGGC GTGGCGTTTGACTGTGAGGTGGCACAGTCATGGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA20300.hp2 HG02622.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0002c0003t0002 a0001c0001t0009 a0002c0003t0002	a0001c0001t0009g0111 a0002c0003t0002g0314 a0001c0001t0009g0111 a0002c0003t0002g0314	2	350	0.0057	-83	c.882 others(100): Show c.882+4849_882+4931delACCATGACTGTGCCACCTCACAGTCAAA CGCCACGCCTGTGCCACCTCACAAACACCACGCCTGTGCCACCTCACAGT CAAAC	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	4/4			chr4	TogoVar
FER1L5_chr2_96637764_96709883	96659290	TTTCCTTC others(76): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp2 HG02965.hp1 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0208 a0001c0003t0001g0079 a0001c0003t0001g0208	2	226	0.0089	-83	c.748 others(99): Show c.748-1048_748-966delCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT TCTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGD6_chr12_95071749_95222467	95149029	TATATATA others(76): Show TATATATATTATATAAGATATAGCATATATTATATATATTATATAAGATA TAGCATATATTATATATATTATATAAGATATAGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG01891.hp1 others(8): Show HG00733.hp2 HG01192.hp2 HG01891.hp1 HG02486.hp2 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03209.hp1 HG03471.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0024 a0001c0025 a0001c0034	a0001c0001t0005 a0001c0003t0002 a0001c0003t0018 others(6): Show a0001c0001t0005 a0001c0003t0002 a0001c0003t0018 a0001c0003t0026 a0001c0003t0045 a0001c0007t0066 a0001c0024t0002 a0001c0025t0002 a0001c0034t0058	a0001c0001t0005g0194 a0001c0003t0002g0053 a0001c0003t0002g0056 others(8): Show a0001c0001t0005g0194 a0001c0003t0002g0053 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0018g0083 a0001c0003t0026g0054 a0001c0003t0045g0082 a0001c0007t0066g0295 a0001c0024t0002g0055 a0001c0025t0002g0148 a0001c0034t0058g0081	11	384	0.0287	-83	c.268 others(102): Show c.2685+3699_2685+3781delGCTATATCTTATATAATATATATAAT ATATGCTATATCTTATATAATATATATAATATATGCTATATCTTATATAA TATATAT	FGD6	ENSG00000180263.14	transcript	ENST00000343958.9	protein_coding	5/20			chr12	TogoVar
FGF22_chr19_634879_649373	642203	TGAGCTGT others(76): Show TGAGCTGTGAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGT GAGGGCCGGGCTGGGGGCTCCATATGGGGTGGTG	T T	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0099 a0004c0005t0008g0099	1	434	0.0023	-83	c.215 others(99): Show c.215-1031_215-949delGAGCTGTGAGGGCCGGGCTGGGGGCTCCA TATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTCCATATGGGGT GGTG	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	1/2			chr19	TogoVar
FGF22_chr19_634879_649373	642307	GGGGGCTC others(76): Show GGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTGGGGGCTC CATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCT	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0002 a0010c0008t0002	a0010c0008t0002g0085 a0010c0008t0002g0085	1	434	0.0023	-83	c.215 others(98): Show c.215-923_215-841delCTCCATATGGGGTGGTGTGAGCTGTGAGGG CCGGGCTGGGGGCTCCATATGGGGTGGTGTGAGCTGTGAGGGCCGGGCTG GGG	FGF22	ENSG00000070388.12	transcript	ENST00000215530.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
FLT3_chr13_27998274_28105576	27999087	ATATGTAT others(76): Show ATATGTATATACATATAAATATATATAATATTTATATACATATATATATT TATATTTATATGTATATACATATATATTTATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0022 a0022	a0022c0027 a0022c0027	a0022c0027t0001 a0022c0027t0001	a0022c0027t0001g0157 a0022c0027t0001g0157	1	292	0.0034	-83	c.48 others(94): Show c.4882_*4964delAATATAAATATATATGTATATACATATAAATATA AATATATATATGTATATAAATATTATATATATTTATATGTATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4186		chr13	TogoVar
FMN1_chr15_32760544_33199714	32777694	CATATAAC others(76): Show CATATAACACATTTACTTATATATTACGTATAATATATAATACATTTACT TATATATTATGTATAATACATTTATATACTATGT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01167.hp2 others(12): Show HG00735.hp1 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp1 HG01517.hp2 HG02080.hp2 HG02109.hp2 HG02300.hp1 HG02738.hp2 HG02970.hp2 HG03017.hp1 NA18967.hp1 NA19065.hp2 NA20752.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0025 a0034 a0037 a0042	a0001c0014 a0002c0003 a0003c0082 others(10): Show a0001c0014 a0002c0003 a0003c0082 a0004c0010 a0005c0013 a0006c0008 a0006c0012 a0009c0087 a0012c0093 a0025c0030 a0034c0037 a0037c0047 a0042c0092	a0001c0014t0067 a0002c0003t0022 a0002c0003t0033 others(11): Show a0001c0014t0067 a0002c0003t0022 a0002c0003t0033 a0003c0082t0070 a0004c0010t0008 a0005c0013t0008 a0006c0008t0068 a0006c0012t0016 a0009c0087t0008 a0012c0093t0008 a0025c0030t0069 a0034c0037t0008 a0037c0047t0036 a0042c0092t0008	a0001c0014t0067g0010 a0002c0003t0022g0128 a0002c0003t0022g0129 others(12): Show a0001c0014t0067g0010 a0002c0003t0022g0128 a0002c0003t0022g0129 a0002c0003t0033g0006 a0003c0082t0070g0100 a0004c0010t0008g0057 a0005c0013t0008g0121 a0006c0008t0068g0119 a0006c0012t0016g0184 a0009c0087t0008g0072 a0012c0093t0008g0070 a0025c0030t0069g0078 a0034c0037t0008g0091 a0037c0047t0036g0108 a0042c0092t0008g0083	15	196	0.0765	-83	c.413 others(100): Show c.4131-858_4131-776delACATAGTATATAAATGTATTATACATAA TATATAAGTAAATGTATTATATATTATACGTAATATATAAGTAAATGTGT TATAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FOXO1_chr13_40550667_40671641	40661542	CCACCTTA others(76): Show CCACCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCC CAGCCTATCAAGGCTTTCTTTAAGGTAATTTCAG	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03834.hp1 NA18612.hp1 others(1): Show HG02683.hp2 HG03834.hp1 NA18612.hp1 NA18970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0026 a0001c0004t0011 a0001c0004t0026	a0001c0004t0011g0367 a0001c0004t0011g0369 a0001c0004t0011g0370 others(1): Show a0001c0004t0011g0367 a0001c0004t0011g0369 a0001c0004t0011g0370 a0001c0004t0026g0368	4	394	0.0102	-83	c.630 others(100): Show c.630+3958_630+4040delCTGAAATTACCTTAAAGAAAGCCTTGAT AGGCTGGGCGTGGTGGCGCACACCTGTAATCCCAGCACTTTGGGAGGCTA AGGTG	FOXO1	ENSG00000150907.10	transcript	ENST00000379561.6	protein_coding	1/2			chr13	TogoVar
FSHR_chr2_48957157_49159515	49127812	TTCTTCTT others(76): Show TTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0316 a0002c0002t0001g0316	1	350	0.0029	-83	c.152 others(102): Show c.152+26371_152+26453delGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAG AAGAAGA	FSHR	ENSG00000170820.12	transcript	ENST00000406846.7	protein_coding	1/9			chr2	TogoVar
FSIP1_chr15_39595031_39787841	39635520	TAGTTCCA others(76): Show TAGTTCCATGTAAGGGATGTTGGGCTTATGAACTGACCTGTCTGGGAACA ATCGGATGGGGGCTATGATTTCCTATTGTAATAG	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	254	0.0039	-83	c.118 others(104): Show c.1189-17358_1189-17276delCTATTACAATAGGAAATCATAGCC CCCATCCGATTGTTCCCAGACAGGTCAGTTCATAAGCCCAACATCCCTTA CATGGAACT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
FYTTD1_chr3_197744883_197792596	197759186	CTCAGTGG others(76): Show CTCAGTGGTAGAATGTATAGAGTGTTCTTCAGTGGTAGAATGTATAGAAT TGTTCTTCAGTGGTAGAAAGTATAGAGTTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp1 HG06807.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0026 a0002c0002t0005 a0002c0002t0026	a0002c0002t0005g0081 a0002c0002t0026g0080 a0002c0002t0005g0081 a0002c0002t0026g0080	2	256	0.0078	-83	c.235 others(100): Show c.235+2642_235+2724delTGTATAGAGTGTTCTTCAGTGGTAGAAT GTATAGAATTGTTCTTCAGTGGTAGAAAGTATAGAGTTGTTCTTCAGTGG TAGAA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
FYTTD1_chr3_197744883_197792596	197759200	GTATAGAG others(76): Show GTATAGAGTGTTCTTCAGTGGTAGAATGTATAGAATTGTTCTTCAGTGGT AGAAAGTATAGAGTTGTTCTTCAGTGGTAGAACA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03490.hp2 HG03831.hp2 others(2): Show HG00597.hp1 HG03490.hp2 HG03831.hp2 HG04228.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0025 a0001c0001t0001 a0001c0001t0016 a0001c0001t0025	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0016g0158 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0016g0158 a0001c0001t0016g0159 a0001c0001t0025g0160	5	256	0.0195	-83	c.235 others(100): Show c.235+2697_235+2779delAGTATAGAGTTGTTCTTCAGTGGTAGAA CATATAGAGTGTTCTTCAGTGGTAGAATGTATAGAATTGTTCTTCAGTGG TAGAA	FYTTD1	ENSG00000122068.13	transcript	ENST00000241502.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241807533	TCCCCCCT others(76): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	314	0.0032	-83	c.33 others(94): Show c.3368_*3450delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3247		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807814	TCCCCCCT others(76): Show TCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	314	0.0032	-83	c.36 others(94): Show c.3649_*3731delCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3528		chr2	TogoVar
GALNS_chr16_88808734_88861947	88823664	CCGATGCC others(76): Show CCGATGCCCAGGACGGCCCTCGCAGGCGGCAATGCCGGGGACCGATGCCC AGGACGGCCCTCGCAGGCGGCAATGCCCGGGGAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03041.hp1 HG03225.hp1 others(1): Show HG02572.hp1 HG03041.hp1 HG03225.hp1 NA19043.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0011 a0009c0015t0013 a0009c0015t0011 a0009c0015t0013	a0009c0015t0011g0063 a0009c0015t0011g0390 a0009c0015t0013g0394 others(1): Show a0009c0015t0011g0063 a0009c0015t0011g0390 a0009c0015t0013g0394 a0009c0015t0013g0395	4	404	0.0099	-83	c.124 others(101): Show c.1242+1020_1243-955delTTCCCCGGGCATTGCCGCCTGCGAGGG CCGTCCTGGGCATCGGTCCCCGGCATTGCCGCCTGCGAGGGCCGTCCTGG GCATCG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	11/13			chr16	TogoVar
GCC1_chr7_127575628_127590596	127588455	CCCGCACC others(76): Show CCCGCACCCCGCGTCGGTGCCCGCGCCCCTCCCCGGGCCCCGCCATGGGC CTCACCGTGTCCGCGCTCTTTTCGCGGATCTTCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	386	0.0026	-83	c.-33 others(94): Show c.-3356_-3274delCGAAGATCCGCGAAAAGAGCGCGGACACGGTGAG GCCCATGGCGGGGCCCGGGGAGGGGCGCGGGCACCGACGCGGGGTGCGG	GCC1	ENSG00000179562.3	transcript	ENST00000321407.3	protein_coding		2860		chr7	TogoVar
GCH1_chr14_54837017_54907826	54880486	TATATATA others(76): Show TATATATATATACTCCATATATATATATACTCCATATATATATATATACT CCATATATATATATACTCCATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0301 a0001c0001t0008g0301	1	346	0.0029	-83	c.344 others(102): Show c.344-15133_344-15051delGGAGTATATATATATGGAGTATATAT ATATATGGAGTATATATATATATATGGAGTATATATATATATGGAGTATA TATATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GC_chr4_71736697_71789079	71769978	TTCAGCTG others(76): Show TTCAGCTGGGGACAAGGTGGAAATCAGGCAAAGAATATTTTAGACAAAGT GTGGTGAGTCTGGGGGATGGTGGGAAGTGTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	388	0.0026	-83	c.59- others(96): Show c.59-661_59-579delGGAAACACTTCCCACCATCCCCCAGACTCACC ACACTTTGTCTAAAATATTCTTTGCCTGATTTCCACCTTGTCCCCAGCTG A	GC	ENSG00000145321.13	transcript	ENST00000273951.13	protein_coding	1/12			chr4	TogoVar
GMDS_chr6_1618806_2250605	1652415	ATAATATA others(76): Show ATAATATATATATAATATATTATATATATTTATATATTATTTATATATAA TATATTATATATATTATATATAATATATATTATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG01243.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0043 a0001c0002t0001g0162 a0001c0001t0002g0043 a0001c0002t0001g0162	2	166	0.0121	-83	c.988 others(102): Show c.988-27958_988-27876delAATAATATATATTATATATAATATAT ATAATATATTATATATAAATAATATATAAATATATATAATATATTATATA TATATTA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GPALPP1_chr13_44984538_45035305	45024179	GTGTGTGT others(76): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGACTGAGTCTCAATC TTCAAGTGTTTTTGCTTGGTATCCCCTAAAACTC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02004.hp2 NA18964.hp2 others(2): Show HG00673.hp2 HG02004.hp2 NA18964.hp2 NA18992.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0232 a0001c0001t0003g0236 others(2): Show a0001c0001t0003g0045 a0001c0001t0003g0232 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0241	5	348	0.0144	-83	c.805 others(100): Show c.805-3576_805-3494delTTTGAGACTGAGTCTCAATCTTCAAGTG TTTTTGCTTGGTATCCCCTAAAACTCTGTGTGTGTGTGTGTGTGTGTGTG TGTGT	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPAT3_chr4_83531108_83610875	83578943	TTTTCTTT others(76): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTC CTTCCTTCCTTCCTTCCTTCTTTCCCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	334	0.0030	-83	c.209 others(100): Show c.209-2611_209-2529delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCCTTTCTTTCTT TCTTT	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GPC1_chr2_240430663_240473076	240453306	CCGCTCCC others(76): Show CCGCTCCCACCGCCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCACCGCC CGCCCCGCTCCCTCCGCCCGCCCCGCTCCCTCCG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02280.hp2 others(1): Show HG01243.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0005 a0001c0014t0005 a0001c0005t0005 a0001c0014t0005	a0001c0005t0005g0309 a0001c0014t0005g0119 a0001c0014t0005g0307 others(1): Show a0001c0005t0005g0309 a0001c0014t0005g0119 a0001c0014t0005g0307 a0001c0014t0005g0308	4	398	0.0101	-83	c.167 others(100): Show c.167-5722_167-5640delGCTCCCACCGCCCGCCCCGCTCCCACCG CCCGCCCCGCTCCCACCGCCCGCCCCGCTCCCTCCGCCCGCCCCGCTCCC TCCGC	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPSM1_chr9_136322539_136364601	136355060	CGAGGGTG others(76): Show CGAGGGTGGATGACACATCCTGGGAGAGGGGTAGCCGGGTGCCGAGGGTG GTGACACGTCCTGGGGTAGGGGTAGCCGGGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	400	0.0025	-83	c.145 others(100): Show c.1456-621_1456-539delATGACACATCCTGGGAGAGGGGTAGCCG GGTGCCGAGGGTGGTGACACGTCCTGGGGTAGGGGTAGCCGGGTGCTGAG GGTGG	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRK5_chr10_119202571_119464745	119287208	GAGAGGGA others(76): Show GAGAGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGAGAG GAGGAAGGGAAGGAGGAAGGGAGGGAGAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0080 a0001c0001t0088g0080	1	202	0.0050	-83	c.53- others(100): Show c.53-39228_53-39146delAGAAAGAGGGAAGAAAGGAAGGGAGGGA GAGAGGGAGGGAGGAAGGGAGAGAGGAGGAAGGGAAGGAGGAAGGGAGGG AGAGA	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
HCN2_chr19_584881_622159	604040	GCAGGGGC others(76): Show GCAGGGGCGGGGCTATAATGGTGCATGGGTGGGGCCAAGGCAGCAGGGGT GGGGCTATGAGAGATCTGGGTGGGGTCAAGGCCC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0004 a0001c0043t0004	a0001c0043t0004g0015 a0001c0043t0004g0015	1	408	0.0025	-83	c.105 others(99): Show c.1056+80_1056+162delCGGGGCTATAATGGTGCATGGGTGGGGCC AAGGCAGCAGGGGTGGGGCTATGAGAGATCTGGGTGGGGTCAAGGCCCCA GGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HEXD_chr17_82413347_82447645	82433948	ATCCAACA others(76): Show ATCCAACATCTTCTCCGAGTGGATGGGCGGCCTGGCACGGGACAGCCTGC GGAGCCCGAGGGAGGCACCCTCGTGTCAGACGCG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	400	0.0025	-83	c.447 others(98): Show c.447+143_447+225delAGTGGATGGGCGGCCTGGCACGGGACAGCC TGCGGAGCCCGAGGGAGGCACCCTCGTGTCAGACGCGTCCAACATCTTCT CCG	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HLA-DRB1_chr6_32573775_32594848	32592529	TGTAATTT others(76): Show TGTAATTTACTAATTAACTAACTGTGGTGTGGTAATCTAGGAAAGGAAGC TAAGGTTCACCTTAGTATTACAGGATAAAAGTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(61): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01257.hp1 HG01346.hp1 HG01515.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 NA18906.hp1 NA18944.hp1 NA18968.hp2 NA18995.hp2 NA19004.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19060.hp1 NA19083.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0002 a0005 a0012 others(10): Show a0002 a0005 a0012 a0013 a0014 a0019 a0020 a0021 a0024 a0025 a0028 a0029 a0030	a0002c0002 a0005c0008 a0005c0010 others(11): Show a0002c0002 a0005c0008 a0005c0010 a0012c0012 a0013c0015 a0014c0016 a0019c0020 a0020c0023 a0021c0024 a0024c0027 a0025c0026 a0028c0032 a0029c0034 a0030c0035	a0002c0002t0005 a0005c0008t0006 a0005c0010t0009 others(12): Show a0002c0002t0005 a0005c0008t0006 a0005c0010t0009 a0012c0012t0003 a0013c0015t0008 a0014c0016t0010 a0014c0016t0012 a0019c0020t0010 a0020c0023t0006 a0021c0024t0010 a0024c0027t0006 a0025c0026t0006 a0028c0032t0003 a0029c0034t0006 a0030c0035t0009	a0002c0002t0005g0005 a0002c0002t0005g0010 a0002c0002t0005g0014 others(37): Show a0002c0002t0005g0005 a0002c0002t0005g0010 a0002c0002t0005g0014 a0002c0002t0005g0077 a0002c0002t0005g0078 a0002c0002t0005g0079 a0005c0008t0006g0024 a0005c0008t0006g0025 a0005c0008t0006g0026 a0005c0008t0006g0054 a0005c0008t0006g0056 a0005c0008t0006g0057 a0005c0010t0009g0027 a0005c0010t0009g0061 a0005c0010t0009g0062 a0005c0010t0009g0063 a0005c0010t0009g0064 a0005c0010t0009g0065 a0005c0010t0009g0075 a0012c0012t0003g0076 a0013c0015t0008g0028 a0013c0015t0008g0066 a0013c0015t0008g0067 a0013c0015t0008g0068 a0014c0016t0010g0080 a0014c0016t0012g0015 a0019c0020t0010g0030 a0019c0020t0010g0031 a0020c0023t0006g0071 a0020c0023t0006g0072 a0020c0023t0006g0073 a0021c0024t0010g0029 a0021c0024t0010g0081 a0024c0027t0006g0058 a0024c0027t0006g0059 a0025c0026t0006g0069 a0025c0026t0006g0070 a0028c0032t0003g0074 a0029c0034t0006g0055 a0030c0035t0009g0060	64	208	0.3077	-83	c.-28 others(94): Show c.-2870_-2788delCCACTTTTATCCTGTAATACTAAGGTGAACCTTA GCTTCCTTTCCTAGATTACCACACCACAGTTAGTTAATTAGTAAATTAC	HLA-DRB1	ENSG00000196126.12	transcript	ENST00000360004.6	protein_coding		2682		chr6	TogoVar
HMBOX1_chr8_28885395_29058262	28896631	CTGTACTT others(76): Show CTGTACTTTTTCCAAGGTTTAGAAACACAGATACTTTCCAGTGCGTTACA GTTGCCTACAATGTTTAATACAGTAACATGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00642.hp2 others(9): Show HG00140.hp2 HG00323.hp2 HG00642.hp2 HG01069.hp2 HG01081.hp2 HG01167.hp1 HG02004.hp1 HG02293.hp1 HG02738.hp2 HG03471.hp1 HG03669.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 others(9): Show a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0343	12	344	0.0349	-83	c.-58 others(100): Show c.-58+5954_-58+6036delTGTACTTTTTCCAAGGTTTAGAAACACA GATACTTTCCAGTGCGTTACAGTTGCCTACAATGTTTAATACAGTAACAT GCTGT	HMBOX1	ENSG00000147421.18	transcript	ENST00000287701.15	protein_coding	1/9			chr8	TogoVar
HPR_chr16_72058226_72082246	72059681	CGTATTAA others(76): Show CGTATTAACTGCACCATCTACAAAATCTGAGCTCCAGCCAGTGCTGCTCT AGATTCATCTTTCTTTAGAGAGAATGAATTATTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG02965.hp2 others(4): Show HG02055.hp2 HG02717.hp2 HG02965.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0004 a0003c0003t0001g0019 a0003c0003t0001g0025 others(2): Show a0002c0002t0001g0004 a0003c0003t0001g0019 a0003c0003t0001g0025 a0003c0003t0001g0087 a0003c0003t0001g0088	7	412	0.0170	-83	c.-35 others(94): Show c.-3574_-3492delGTATTAACTGCACCATCTACAAAATCTGAGCTCC AGCCAGTGCTGCTCTAGATTCATCTTTCTTTAGAGAGAATGAATTATTG	HPR	ENSG00000261701.9	transcript	ENST00000540303.7	protein_coding		3544		chr16	TogoVar
HSD17B11_chr4_87331515_87396188	87378877	TATAAATA others(76): Show TATAAATATATATATATAAATATATATAAATATATATATATAAATATATA TAAATATATATATATATATATTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	2	390	0.0051	-83	c.318 others(100): Show c.318+3295_318+3377delTATATATATATAAATATATATATATATA TATTTATATATATTTATATATATATATTTATATATATTTATATATATATA TTTAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
IL1RAPL2_chrX_104561199_105772829	105704838	GATGTAAC others(76): Show GATGTAACCAAGTGCAAATTCTGTAAGAACATTTTTCCCGTTGAGCTGTT TTCTAATTTTAATGTTAAAGTTTTACTATATACC	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	141	0.0071	-83	c.773 others(102): Show c.773-12474_773-12392delATTTTAATGTTAAAGTTTTACTATAT ACCATGTAACCAAGTGCAAATTCTGTAAGAACATTTTTCCCGTTGAGCTG TTTTCTA	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5E_chr9_136423619_136444845	136431618	CTCCTCAT others(76): Show CTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCAT CTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp2 HG02896.hp2 others(2): Show HG01109.hp1 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0009 a0001c0005t0004g0009	5	382	0.0131	-83	c.154 others(100): Show c.1549+123_1549+205delAAGGTGAGGGCCTGGGGGGCGGGCGTGG AGGGAGATGAGGAGAGGTGAGGGCCTGGGGGGGCGGGCGTGGAGGGAGAT GAGGA	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INPP5E_chr9_136423619_136444845	136431682	GCCCCCCA others(76): Show GCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAG GCCCTCACCTCTCCTCATCTCCCTCCACGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	382	0.0026	-83	c.154 others(99): Show c.1549+59_1549+141delGCGGGCGTGGAGGGAGATGAGGAGAGGTG AGGGCCTGGGGGGCGGGCGTGGAGGGAGATGAGGAAAGGTGAGGGCCTGG GGGG	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
INTS15_chr7_6585021_6613726	6599342	TGGGACGG others(76): Show TGGGACGGCCCTTGGCAGCAGCCAGATCACTGACAGGACTCTGAGCTGCT CCCTGAAGGCCACCATTGCTGTCACTGCCCCATA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 NA19091.hp1 HG02040.hp1 HG02071.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145	3	394	0.0076	-83	c.581 others(98): Show c.581-486_581-404delGGGACGGCCCTTGGCAGCAGCCAGATCACT GACAGGACTCTGAGCTGCTCCCTGAAGGCCACCATTGCTGTCACTGCCCC ATA	INTS15	ENSG00000146576.13	transcript	ENST00000344417.10	protein_coding	3/5			chr7	TogoVar
JPH2_chr20_44101590_44192188	44134001	ATAAATAT others(76): Show ATAAATATATATATTATAAATATATATAAATATATATTTATATATAAATA TATATTTATTATAAATATATAAATATATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp1 HG01496.hp2 others(4): Show HG00642.hp2 HG01433.hp1 HG01496.hp2 HG02683.hp1 HG02970.hp1 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0017 a0001c0006 a0001c0007 a0001c0017	a0001c0006t0022 a0001c0007t0028 a0001c0007t0076 others(3): Show a0001c0006t0022 a0001c0007t0028 a0001c0007t0076 a0001c0007t0103 a0001c0007t0108 a0001c0017t0089	a0001c0006t0022g0037 a0001c0006t0022g0038 a0001c0007t0028g0287 others(4): Show a0001c0006t0022g0037 a0001c0006t0022g0038 a0001c0007t0028g0287 a0001c0007t0076g0152 a0001c0007t0103g0292 a0001c0007t0108g0304 a0001c0017t0089g0213	7	338	0.0207	-83	c.117 others(104): Show c.1170-15461_1170-15379delATAAATATATATTTATATATTTAT AATAAATATATATTTATATATAAATATATATTTATATATATTTATAATAT ATATATTTA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134289	TATTATAA others(76): Show TATTATAAATATAATAAATATTTATTATAAATATATAATAAATATATAAT AAATATTTATTATAAATATATATATTTATTATAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0023 a0003c0008t0023	a0003c0008t0023g0058 a0003c0008t0023g0058	1	338	0.0030	-83	c.117 others(104): Show c.1170-15749_1170-15667delTTATAATAAATATATATATTTATA ATAAATATTTATTATATATTTATTATATATTTATAATAAATATTTATTAT ATTTATAAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNMA1_chr10_76879882_77642808	77376558	TTTTTTTT others(76): Show TTTTTTTTCTAGAAGATAAGTGGCTAATTTCAAAATAATTATTTTATCAA CTGCCACATAAGTTTTTTTTTTTTTAATTCATTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01099.hp1 others(31): Show HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01243.hp2 HG01258.hp1 HG01884.hp1 HG01928.hp1 HG02165.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03704.hp1 HG04184.hp1 HG04204.hp2 NA18747.hp2 NA18944.hp1 NA19003.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0018 a0001c0003t0003 a0001c0004t0001 a0001c0005t0003 a0002c0006t0003 a0004c0010t0003	a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0065 others(31): Show a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0003g0029 a0001c0001t0003g0077 a0001c0001t0004g0103 a0001c0001t0005g0072 a0001c0001t0005g0092 a0001c0001t0006g0061 a0001c0001t0007g0025 a0001c0001t0014g0037 a0001c0002t0001g0055 a0001c0002t0001g0062 a0001c0002t0001g0070 a0001c0002t0001g0073 a0001c0002t0001g0088 a0001c0002t0002g0006 a0001c0002t0002g0049 a0001c0002t0002g0076 a0001c0002t0003g0003 a0001c0002t0007g0091 a0001c0002t0008g0096 a0001c0002t0011g0089 a0001c0002t0018g0098 a0001c0003t0003g0082 a0001c0004t0001g0063 a0001c0005t0003g0015 a0002c0006t0003g0001 a0004c0010t0003g0095	34	106	0.3208	-83	c.540 others(102): Show c.540+27221_540+27303delTAATGAATTAAAAAAAAAAAAACTTA TGTGGCAGTTGATAAAATAATTATTTTGAAATTAGCCACTTATCTTCTAG AAAAAAA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMB2_chr3_178531436_178849429	178757551	TATATCCA others(76): Show TATATCCAAGAGGATATATATATATGTATATATATCCAAGAGGATATATA TATATGTATATATATCCAAGAGGATATATATATG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	232	0.0043	-83	c.-67 others(102): Show c.-67-49791_-67-49709delATATCCAAGAGGATATATATATATGT ATATATATCCAAGAGGATATATATATATGTATATATATCCAAGAGGATAT ATATATG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KIF25_chr6_167992671_168050091	168044217	GTGCTAGT others(76): Show GTGCTAGTGACCGGCTGCTGACCCTCCCGGAGGGTGAGGGGTGCTAGTGA CCGGCTGCTGACCCTCCCGGACCCAGGTGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01361.hp1 others(42): Show HG01099.hp2 HG01109.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp2 HG03927.hp2 NA18942.hp2 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18971.hp1 NA18981.hp1 NA18982.hp2 NA18998.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 others(8): Show a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0015 a0001c0003t0026 a0001c0003t0029 a0001c0003t0034 a0001c0003t0037 a0001c0003t0051 a0004c0005t0004 a0004c0005t0015	a0001c0003t0004g0016 a0001c0003t0004g0032 a0001c0003t0004g0042 others(41): Show a0001c0003t0004g0016 a0001c0003t0004g0032 a0001c0003t0004g0042 a0001c0003t0004g0043 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0003t0004g0048 a0001c0003t0004g0049 a0001c0003t0004g0052 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0004g0057 a0001c0003t0004g0059 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0068 a0001c0003t0004g0069 a0001c0003t0004g0129 a0001c0003t0004g0364 a0001c0003t0004g0365 a0001c0003t0009g0063 a0001c0003t0011g0041 a0001c0003t0015g0287 a0001c0003t0015g0288 a0001c0003t0026g0182 a0001c0003t0026g0233 a0001c0003t0029g0333 a0001c0003t0029g0354 a0001c0003t0034g0056 a0001c0003t0037g0180 a0001c0003t0051g0092 a0004c0005t0004g0001 a0004c0005t0004g0121 a0004c0005t0004g0122 a0004c0005t0004g0123 a0004c0005t0004g0138 a0004c0005t0015g0163 a0004c0005t0015g0164	45	375	0.1200	-83	c.986 others(98): Show c.986-526_986-444delTGCTAGTGACCGGCTGCTGACCCTCCCGGA GGGTGAGGGGTGCTAGTGACCGGCTGCTGACCCTCCCGGACCCAGGTGAG GGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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