Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FLT4_chr5_180596506_180654600	180635033	G G	GGTGGGTG others(165): Show GGTGGGTGGGTGGATGGATGCATGGAGGGAAGTATGGGTGGATGGGTGGG TGGGTGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGAGGGGTG GGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGG TGGATGGATGCATGGATGGAAGT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	388	0.0026	172	c.59- others(187): Show c.59-3256_59-3255insACTTCCATCCATGCATCCATCCACCCACCC ACCCATCCACCCATACTTCCATCCATCCATGCATCCATCCACCCACCCCT CCACCCATACTTCCATCCATCCATCCACCCACCCACCCACCCACCCACCC ATCCACCCATACTTCCCTCCATGCATCCATCCACCCACCCAC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635057	G G	GATGGATG others(165): Show GATGGATGGAAGTATGGGTGGAGGGGTGGGTGGATGGATGCATGGATGGA TGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGCATGGATGGAAG TATGGGTGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGG TGGGTGGGTGGGTGGATGGATGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	388	0.0026	172	c.59- others(187): Show c.59-3280_59-3279insGCATCCATCCACCCACCCACCCACCCATCC ACCCATACTTCCATCCATCCATCCACCCACCCACCCACCCATACTTCCAT CCATGCATCCATCCACCCACCCACCCATCCACCCATACTTCCATCCATCC ATGCATCCATCCACCCACCCCTCCACCCATACTTCCATCCAT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
GABRG3_chr15_26966181_27546984	27306943	T T	TACAATAT others(165): Show TACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTATA TATAAACATACAATATAAACATGTTTATATATAAACATACAATATAAACA TGTTTATATATAAACATACAATATAAACATGTTTATATATAAACATACAA TATAAACATGTTTATATATAAAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	92	0.0109	172	c.271 others(191): Show c.271-19865_271-19864insCAATATAAACATGTTTATATATAAAC ATACAATATAAACATGTTTATATATAAACATACAATATAAACATGTTTAT ATATAAACATACAATATAAACATGTTTATATATAAACATACAATATAAAC ATGTTTATATATAAACATACAATATAAACATGTTTATATATAAACA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GLB1L3_chr11_134271379_134324564	134308410	C C	CCACCACC others(165): Show CCACCACCACCACCACCAAATACCACCACCACCATGTCCACCACCACTAC CACCACCATCACCATCACCATCACCATCATCACCATCACCACTACCACCA CCACCACCACCACCATCATCACCATCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	422	0.0024	172	c.962 others(189): Show c.962-1208_962-1207insCCACCACCAAATACCACCACCACCATGT CCACCACCACTACCACCACCATCACCATCACCATCACCATCATCACCATC ACCACTACCACCACCACCACCACCACCATCATCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCATCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GMEB2_chr20_63582605_63632101	63607574	C C	CACCTCCA others(165): Show CACCTCCATTTCCAGAAACATGCCCCTCTGACCCACCTCCATTTCTAGAA ACATGTCCCTCTGACCCCACACATCCATTTCTAGAAACATGTCCCTCTGA CCCACACCTCCATTTCTAGAAACATGCCCCTCTGACCCACCTCCATTTCT AGAAACATGCCACTCTGACCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(75): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18970.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0015 a0003c0013 a0001c0003 a0001c0015 a0003c0013	a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 others(4): Show a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 a0001c0003t0024 a0001c0003t0026 a0001c0015t0002 a0003c0013t0002	a0001c0003t0002g0001 a0001c0003t0002g0005 a0001c0003t0002g0025 others(67): Show a0001c0003t0002g0001 a0001c0003t0002g0005 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0126 a0001c0003t0002g0128 a0001c0003t0002g0129 a0001c0003t0002g0130 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0140 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0150 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0159 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0163 a0001c0003t0002g0164 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0253 a0001c0003t0002g0255 a0001c0003t0002g0257 a0001c0003t0002g0263 a0001c0003t0022g0256 a0001c0003t0023g0162 a0001c0003t0024g0167 a0001c0003t0026g0284 a0001c0015t0002g0173 a0003c0013t0002g0131	78	330	0.2364	172	c.132 others(189): Show c.132-2735_132-2734insTGGGGTCAGAGTGGCATGTTTCTAGAAA TGGAGGTGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGTGGGTCAGA GGGACATGTTTCTAGAAATGGATGTGTGGGGTCAGAGGGACATGTTTCTA GAAATGGAGGTGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609451	C C	CACACCTC others(165): Show CACACCTCCATTTCTAGAAACATGCCCCTCTGACCTCACCTCCATTTCTA GAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATGCCCCTCT GACCCCACCTCCATTTCTAGAAACATGCCCCTCTGACCCCACCTCCATTT CTAGAAACATGCCCCTCTGACCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp1 HG02109.hp2 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0039 a0001c0007t0007g0040 a0001c0007t0007g0039 a0001c0007t0007g0040	2	330	0.0061	172	c.132 others(189): Show c.132-4612_132-4611insAGGTCAGAGGGGCATGTTTCTAGAAATG GAGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGGTCAGAGG GGCATGTTTCTAGAAATGGATGTGTGGGTCAGAGGGGCATGTTTCTAGAA ATGGAGGTGAGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGT	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(165): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAA AAATATATATATTATATATAATTTAATATTAAATATATATATAATATATA TATTTAATATTAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19030.hp2 HG02071.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0111 a0001c0001t0002g0127 a0001c0001t0001g0111 a0001c0001t0002g0127	2	282	0.0071	172	c.321 others(191): Show c.321+27822_321+27823insTTATATATATTTAATATTAAATATAT ATATTATATATATATTTAATATTAAATTATATATAATATATATATTTTTC TATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATAT TTTCTATTAAATATATATATTATATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GPR161_chr1_168074542_168141930	168119277	T T	TACACATA others(165): Show TACACATATATATATGTATATATATGTATATATACATATATATACATATA TATACACATATATATGTATACATATATATACATATATATGTATACATATA TATATACACATATATATACATATATATATATACATATATATGTGTACATA TATGTACATATATATATGTACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0099 a0001c0002t0018g0099	1	340	0.0029	172	c.-44 others(191): Show c.-44-14384_-44-14383insGTGTACATATATATATGTACATATAT GTACACATATATATGTATATATATATATGTATATATATGTGTATATATAT ATGTATACATATATATGTATATATATGTATACATATATATGTGTATATAT ATGTATATATATGTATATATACATATATATACATATATATATGTGT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GPR161_chr1_168074542_168141930	168119277	T T	TACACATA others(165): Show TACACATATATATATGTATATATATGTATATATACATATATATATACATA TATATACACATATATATGTATACATATATATACATATATATGTATACATA TATATATACACATATATATACATATATATATACATATATATGTGTACATA TATGTACATATATATATGTACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0097 a0001c0002t0031g0097	1	340	0.0029	172	c.-44 others(191): Show c.-44-14384_-44-14383insGTGTACATATATATATGTACATATAT GTACACATATATATGTATATATATATGTATATATATGTGTATATATATAT GTATACATATATATGTATATATATGTATACATATATATGTGTATATATAT GTATATATATATGTATATATACATATATATACATATATATATGTGT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46616921	T T	TGTGTGCA others(165): Show TGTGTGCAGGTTCCCCTGTGTGTGTGGCTTCCCCTGTGCGTGCAGGTTCC CCTGTGTGTAGGTTCCCCTGTGTGTGTAGGTTCCCCTGTGTGTGTAGGTT CCCCTGTGTGTACGTTCCCCTGTGTGTACGTTCCCCTGTGTGTGTAGGTT CCCCTGTGCGTGTAGGTTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA21309.hp1 HG02109.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0003t0003g0235 a0001c0003t0003g0236	2	328	0.0061	172	c.-36 others(183): Show c.-3694_-3693insGTGTGCAGGTTCCCCTGTGTGTGTGGCTTCCCCT GTGCGTGCAGGTTCCCCTGTGTGTAGGTTCCCCTGTGTGTGTAGGTTCCC CTGTGTGTGTAGGTTCCCCTGTGTGTACGTTCCCCTGTGTGTACGTTCCC CTGTGTGTGTAGGTTCCCCTGTGCGTGTAGGTTCCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		3464		chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46680586	C C	CCACCCAC others(165): Show CCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCCATCC ATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCACCCAT CCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCCATCC ATACATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG01496.hp2 others(30): Show HG01109.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03927.hp1 NA18906.hp1 NA18906.hp2 NA18975.hp1 NA18991.hp2 NA19043.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 others(4): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0001t0041 a0001c0002t0004 a0001c0002t0046 a0002c0010t0047	a0001c0001t0004g0021 a0001c0001t0004g0295 a0001c0001t0008g0008 others(29): Show a0001c0001t0004g0021 a0001c0001t0004g0295 a0001c0001t0008g0008 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0023g0121 a0001c0001t0023g0122 a0001c0001t0041g0006 a0001c0002t0004g0002 a0001c0002t0004g0032 a0001c0002t0004g0069 a0001c0002t0004g0070 a0001c0002t0004g0086 a0001c0002t0004g0088 a0001c0002t0004g0090 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0097 a0001c0002t0004g0099 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0046g0089 a0002c0010t0047g0064	33	328	0.1006	172	c.33 others(183): Show c.3335_*3336insCACCCACCCACCCACCCATTCATCCATCCATCCG TCCTTCCATCCATCCATCCACCCACCCATCCACCCATTCATCCATCCATC CACCTACCCACCCATCCATCCATCCATCAATCCATCCGTCCATCCATCCA TCCACCCATCCATCCATACATCCACCCACCCACCCATT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		802		chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46680586	C C	CCACCCAC others(165): Show CCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCCATCC ATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCACCCAT CCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCCATCC ATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(162): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0037 a0001c0001t0039 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0057 a0001c0001t0059 a0001c0001t0063 a0001c0003t0003 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0066 others(159): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0169 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0234 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0250 a0001c0001t0003g0283 a0001c0001t0005g0001 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0063 a0001c0001t0005g0111 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0188 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0258 a0001c0001t0008g0009 a0001c0001t0009g0047 a0001c0001t0009g0048 a0001c0001t0009g0050 a0001c0001t0009g0054 a0001c0001t0009g0056 a0001c0001t0012g0005 a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0014g0052 a0001c0001t0014g0058 a0001c0001t0015g0189 a0001c0001t0015g0190 a0001c0001t0016g0018 a0001c0001t0018g0230 a0001c0001t0018g0247 a0001c0001t0021g0155 a0001c0001t0021g0156 a0001c0001t0022g0138 a0001c0001t0022g0176 a0001c0001t0024g0004 a0001c0001t0027g0038 a0001c0001t0029g0053 a0001c0001t0031g0059 a0001c0001t0037g0065 a0001c0001t0039g0077 a0001c0001t0045g0140 a0001c0001t0048g0191 a0001c0001t0049g0042 a0001c0001t0050g0147 a0001c0001t0051g0162 a0001c0001t0052g0136 a0001c0001t0057g0304 a0001c0001t0059g0284 a0001c0001t0063g0227 a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0004t0001g0321	165	328	0.5031	172	c.33 others(183): Show c.3335_*3336insCACCCACCCACCCACCCATTCATCCATCCATCCG TCCTTCCATCCATCCATCCACCCACCCATCCACCCATTCATCCATCCATC CACCTACCCACCCATCCATCCATCCATCAATCCATCCGTCCATCCATCCA TCCACCCATCCATCCATCCATCCACCCACCCACCCATT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		802		chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46680586	C C	CCACCCAC others(165): Show CCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCCATCC ATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCACCCAT CCATCCATCCATCAATCCATCCGTCCATCCATCCATCCAGCCATCCATCC ATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	328	0.0031	172	c.33 others(183): Show c.3335_*3336insCACCCACCCACCCACCCATTCATCCATCCATCCG TCCTTCCATCCATCCATCCACCCACCCATCCACCCATTCATCCATCCATC CACCTACCCACCCATCCATCCATCCATCAATCCATCCGTCCATCCATCCA TCCAGCCATCCATCCATCCATCCACCCACCCACCCATT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		802		chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46680586	C C	CCACCCAC others(165): Show CCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCCATCC ATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACTCACCCAT CCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCCATCC ATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02970.hp2 HG02896.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0019 a0001c0007t0019 a0001c0001t0019 a0001c0007t0019	a0001c0001t0019g0062 a0001c0007t0019g0182 a0001c0001t0019g0062 a0001c0007t0019g0182	2	328	0.0061	172	c.33 others(183): Show c.3335_*3336insCACCCACCCACCCACCCATTCATCCATCCATCCG TCCTTCCATCCATCCATCCACCCACCCATCCACCCATTCATCCATCCATC CACCTACTCACCCATCCATCCATCCATCAATCCATCCGTCCATCCATCCA TCCACCCATCCATCCATCCATCCACCCACCCACCCATT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding		802		chr22	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(165): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATATGTACACAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0184 a0002c0002t0002g0184	1	418	0.0024	172	c.167 others(189): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATATGTACACATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATG others(165): Show CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18992.hp2 NA19078.hp1 others(1): Show HG01243.hp2 NA18992.hp2 NA19078.hp1 NA19083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0175 a0002c0002t0002g0186 others(1): Show a0002c0002t0002g0083 a0002c0002t0002g0175 a0002c0002t0002g0186 a0002c0002t0002g0220	4	418	0.0096	172	c.167 others(189): Show c.1678-384_1678-383insATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998583	T T	TGTACACA others(165): Show TGTACACACATATATACACATATATGTGTACACACATATATACACATATA TGTGTACACACATATATACACATATATGTGTACACACATATATACACATA TATGTGTACACACATATATACACATATATGTGTACACACATATATACACA TATATGTGTACACACATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0128 a0004c0004t0002g0128	1	418	0.0024	172	c.167 others(189): Show c.1678-382_1678-381insGTACACACATATATACACATATATGTGT ACACACATATATACACATATATGTGTACACACATATATACACATATATGT GTACACACATATATACACATATATGTGTACACACATATATACACATATAT GTGTACACACATATATACACATATATGTGTACACACATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(165): Show TCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCT CCTCCTCCCCCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	290	0.0035	172	c.427 others(189): Show c.427-1062_427-1061insTCCTCCCCCCTCTTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCC CCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(165): Show CTCCCCCCTCCTCCCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0217 a0001c0001t0020g0217	1	290	0.0035	172	c.427 others(189): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27979686	A A	AGAAAGGA others(165): Show AGAAAGGAAGGAAGAAAGGGAGATGGGCAGGAGGGAGGGGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0003 a0001c0004t0026g0003	1	240	0.0042	172	c.350 others(191): Show c.350-16484_350-16483insCTTCCTTCCTTCCTTCCTTCCTTCCT TCTTTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCCCCTCCCTCCTGCCCATCTCCCTTTCTTCCTTCCTTTC	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	1/6			chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169766	A A	ATATATTA others(165): Show ATATATTATATAATATATAATATACAATATATTATATAATATATAATATA CAATATATTATATATTATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATATTGTATATTATATAATATATTGTATATTATATAT TGTATATTATATATAATATATTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19004.hp2 HG03834.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0001g0152 a0001c0001t0001g0181	2	384	0.0052	172	c.-34 others(187): Show c.-34-699_-34-698insTATATAATATATAATATACAATATATTATA TAATATATAATATACAATATATTATATATTATATAATATATTGTATATTA TATATTATATAATATATTGTATATTATATATTGTATATTATATAATATAT TGTATATTATATATTGTATATTATATATAATATATTGTATAT	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(165): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCACCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTAC ACCACCTTCCCCACCCCGAGACT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18980.hp1 NA18960.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0263 a0001c0001t0001g0216 a0001c0001t0001g0263	2	370	0.0054	172	c.134 others(189): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(165): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTAC ACCACCTTCCCCACCCCGAGACT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG02080.hp1 others(7): Show HG00741.hp2 HG01069.hp2 HG02080.hp1 HG03017.hp2 HG03688.hp1 NA18947.hp2 NA18970.hp1 NA19001.hp1 NA19004.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0210 a0001c0001t0001g0222 others(6): Show a0001c0001t0001g0031 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0274	10	370	0.0270	172	c.134 others(189): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(165): Show ACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTAC ACCACCTTCCCCACCCCGAGACT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02683.hp2 HG03834.hp2 HG00140.hp1 HG02683.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0243 a0001c0001t0001g0295 a0001c0001t0021g0296 a0001c0001t0001g0243 a0001c0001t0001g0295 a0001c0001t0021g0296	3	370	0.0081	172	c.134 others(189): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1011052	G G	GCCCTTCA others(165): Show GCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCTCCTGCACCTC TTCCCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCC TGCATCCCTCCATCCTGACTGTGCCTCCTGCACCTCTTCCCCTCACCCCG AGACTCTGGTGGAGATGCTGGGC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	370	0.0027	172	c.134 others(189): Show c.1344+656_1344+657insTCCTGCACCTCTTCCCCTCACCCCGAGA CTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTG ACTGTGCCTCCTGCACCTCTTCCCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1011108	C C	CCACCCCG others(165): Show CCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATC CCTCCATCCTGACTGTGCCCCCTGCACCTCTTCCCCTCACCCCGAGACTC TGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACT GTGCCCCCTGCACCTCTTCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	370	0.0027	172	c.134 others(189): Show c.1344+665_1344+666insTCTTCCCCTCACCCCGAGACTCTGGTGG AGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCC CCTGCACCTCTTCCCCTCACCCCGAGACTCTGGTGGAGATGCTGGGCCCC TTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCCCCTGCACC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1011108	C C	CCACCCCG others(165): Show CCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATC CCTCCATCCTGACTGTGCCTCCTGCACCTCTTCCCCTCACCCCGAGACTC TGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACT GTGCCTCCTGCACCTCTTCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01069.hp2 HG01943.hp1 others(11): Show HG00423.hp2 HG01069.hp2 HG01943.hp1 HG02004.hp2 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18966.hp1 NA18977.hp1 NA18986.hp2 NA18994.hp2 NA19011.hp1 NA19067.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0210 others(11): Show a0001c0001t0001g0185 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0283 a0001c0001t0001g0286	14	370	0.0378	172	c.134 others(189): Show c.1344+656_1344+657insTCCTGCACCTCTTCCCCTCACCCCGAGA CTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTG ACTGTGCCTCCTGCACCTCTTCCCCTCACCCCGAGACTCTGGTGGAGATG CTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1011172	G G	GTGCCTCC others(165): Show GTGCCTCCTGCACCTCTTCCCCTCACCCCGAGACTCTGGTGGAGATGCTG GGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTGTGCCTCCTGCACC TCTTCCCCTCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCT CCTGCATCCCTCCATCCTGACTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	370	0.0027	172	c.134 others(189): Show c.1344+656_1344+657insTCCTGCACCTCTTCCCCTCACCCCGAGA CTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTG ACTGTGCCTCCTGCACCTCTTCCCCTCACCCCGAGACTCTGGTGGAGATG CTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GYPE_chr4_143865864_143910559	143883550	T T	TTATAATT others(165): Show TTATAATTAATAATAACATGTAATTAATTATAAATTAATTTATAATTAAT AACATGTAATTAATTATAAATTAATAATTAATAATAACATGTAATTAATT ATAAATTAATAATTAATAATAACATGTAATTAATTATAAATTAATAATTA ATAATAACATGTAATTAATTATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	398	0.0025	172	c.38- others(187): Show c.38-3042_38-3041insTATAATTAATTACATGTTATTATTAATTAT TAATTTATAATTAATTACATGTTATTATTAATTATTAATTTATAATTAAT TACATGTTATTATTAATTATTAATTTATAATTAATTACATGTTATTAATT ATAAATTAATTTATAATTAATTACATGTTATTATTAATTATA	GYPE	ENSG00000197465.14	transcript	ENST00000358615.9	protein_coding	1/3			chr4	TogoVar
HAUS2_chr15_42543838_42574994	42557472	G G	GTATATTA others(165): Show GTATATTATATATAATGTATACATTGTATACAATGTATATTATATATAAT GTATACATTGTATACAATGTATATTATATATAATGTATACATTGTATACA ATGTATATTATATATAATATATACATTGTATACAATGTATATTATATATA ATATATACATTGTATACAATGTA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01515.hp2 HG01081.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0033 a0001c0001t0029g0027 a0001c0001t0005g0033 a0001c0001t0029g0027	2	350	0.0057	172	c.94- others(185): Show c.94-711_94-710insGTATACATTGTATACAATGTATATTATATATA ATGTATACATTGTATACAATGTATATTATATATAATGTATACATTGTATA CAATGTATATTATATATAATATATACATTGTATACAATGTATATTATATA TAATATATACATTGTATACAATGTATATATTATATATAAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557472	G G	GTATATTA others(165): Show GTATATTATATATAATGTATACATTGTATACAATGTATATTATATATAAT GTATACATTGTATACAATGTATATTATATATAATGTATACATTGTATACA ATGTATATTATATATAATGTATACATTGTATACAATGTATATTATATATA ATGTATACATTGTATACAATGTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	2	350	0.0057	172	c.94- others(185): Show c.94-711_94-710insGTATACATTGTATACAATGTATATTATATATA ATGTATACATTGTATACAATGTATATTATATATAATGTATACATTGTATA CAATGTATATTATATATAATGTATACATTGTATACAATGTATATTATATA TAATGTATACATTGTATACAATGTATATATTATATATAAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
HCN2_chr19_584881_622159	604607	A A	ATATGAGG others(165): Show ATATGAGGGTTGTGCTGGGCGGGATCAAGCAGCAAGGGCGGGACTATGAG GGTTGTGCTGGGCGGGGTCAGGCAGCAGGGGCGGGACTATGAGGGTTGTG CTGGGCGGGGTCAGGCAGCAAGGGCGGGACTATGAGGGTTGTGCTGGGCG GGGTCAGGCAGCAGGGGCGGGAC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0007 a0007	a0007c0106 a0007c0106	a0007c0106t0002 a0007c0106t0002	a0007c0106t0002g0187 a0007c0106t0002g0187	1	408	0.0025	172	c.105 others(189): Show c.1057-432_1057-431insATCAAGCAGCAAGGGCGGGACTATGAGG GTTGTGCTGGGCGGGGTCAGGCAGCAGGGGCGGGACTATGAGGGTTGTGC TGGGCGGGGTCAGGCAGCAAGGGCGGGACTATGAGGGTTGTGCTGGGCGG GGTCAGGCAGCAGGGGCGGGACTATGAGGGTTGTGCTGGGCGGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HIVEP1_chr6_12007312_12169999	12167688	T T	TATATACA others(165): Show TATATACATATATACATATATGTGTATAATATATACATATATACATATAT GTGTATAATATATACATATAGACATATATGTGTATAATATATACATATAT ACATATATGTGTATAATATATACATATATACATATATGTGTATAATATAT ACATATATACATATATGTGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0253 a0006c0009t0001g0253	1	344	0.0029	172	c.32 others(183): Show c.3227_*3228insATATACATATATACATATATGTGTATAATATATA CATATATACATATATGTGTATAATATATACATATAGACATATATGTGTAT AATATATACATATATACATATATGTGTATAATATATACATATATACATAT ATGTGTATAATATATACATATATACATATATGTGTATA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2690		chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55477421	T T	TAATATAT others(165): Show TAATATATATTATATAATATATATTATATTTATATAATATATATTATATT TAGATAATATATATTATATTAATATAATATATATTATCTAAATATAATAT ATATTATATAAATATATATTATCTTAATATATATTATATATAATATAATA TATATTATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	334	0.0030	172	c.795 others(191): Show c.795+17997_795+17998insTATATTATATATAATATAATATATAT TATATTATATATAATATATATTAAGATAATATATATTTATATAATATATA TTATATTTAGATAATATATATTATATTAATATAATATATATTATCTAAAT ATAATATATATTATATAAATATAATATATATTATATAATATATATT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
IGF1_chr12_102390874_102485563	102441953	T T	TTCTTCTC others(165): Show TTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TTCTTCTTCTTCTTCTTCTTCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0066 a0001c0001t0074g0066	1	360	0.0028	172	c.221 others(191): Show c.221-22264_221-22263insGAGAAGAAGAAGAAGAAGAAGAAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307529	T T	TTATATAT others(165): Show TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAATATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	141	0.0071	172	c.697 others(191): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTATATATTATATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IMMP2L_chr7_110657644_111567492	111142336	A A	AGAAAGAA others(165): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0057 a0001c0002t0013g0057	1	84	0.0119	172	c.240 others(193): Show c.240-178772_240-178771insCTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
ITGAE_chr17_3709628_3806188	3788778	T T	TTATTTAA others(165): Show TTATTTAAAATAATAATTATTAAAATAATTATTTAAAAATAATAATTATT AAAATAATTATTTAAAAATAATAATTATTAAAATAATTATTTAAAAATAA TAATTATTAAAATAATTATTTAAAAATAATAATTATTAAAATAATTATTT AAAAATAATAATTATTAAAATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG02083.hp2 others(5): Show HG00280.hp2 HG01070.hp2 HG02083.hp2 NA18612.hp2 NA18959.hp2 NA19081.hp1 NA19087.hp1 NA19240.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0029 a0031	a0001c0001 a0002c0002 a0006c0006 others(3): Show a0001c0001 a0002c0002 a0006c0006 a0007c0021 a0029c0042 a0031c0044	a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0006c0006t0001 a0007c0021t0001 a0029c0042t0001 a0031c0044t0001	a0001c0001t0001g0193 a0001c0001t0001g0271 a0002c0002t0001g0081 others(5): Show a0001c0001t0001g0193 a0001c0001t0001g0271 a0002c0002t0001g0081 a0006c0006t0001g0033 a0006c0006t0001g0071 a0007c0021t0001g0196 a0029c0042t0001g0073 a0031c0044t0001g0223	8	302	0.0265	172	c.35- others(189): Show c.35-11119_35-11118insTTATTTTAATAATTATTATTTTTAAATA ATTATTTTAATAATTATTATTTTTAAATAATTATTTTAATAATTATTATT TTTAAATAATTATTTTAATAATTATTATTTTTAAATAATTATTTTAATAA TTATTATTTTTAAATAATTATTTTAATAATTATTATTTTAAATA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	1/30			chr17	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	G G	GTGTTTGT others(165): Show GTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0058 a0001c0001t0060g0058	1	276	0.0036	172	c.80 others(181): Show c.802_*803insAACACACACTGAAGGCCTGAGGAAGACGAGATGTCA CAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GACGAGATGTCACAGAGGTCCACTCAGTGACAAACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	802		chr2	TogoVar
ITIH5_chr10_7554270_7671966	7624857	G G	GTATATAC others(165): Show GTATATACATGTATATACACATATATATGTGTATATACATGTATATACAC ATATATATGTGTATATACATGTATATACACATATATATGTGTATATACAT GTATATACACATATGTATATACATGTATATACACATATATATGTGTATAT ACATGTATATACACATATATGTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0000 a0000	a0000c0042 a0000c0042	a0000c0042t0033 a0000c0042t0033	a0000c0042t0033g0275 a0000c0042t0033g0275	1	342	0.0029	172	c.653 others(189): Show c.653-7576_653-7575insTACATATATGTGTATATACATGTATATA CACATATATATGTGTATATACATGTATATACATATGTGTATATACATGTA TATACACATATATATGTGTATATACATGTATATACACATATATATGTGTA TATACATGTATATACACATATATATGTGTATATACATGTATATA	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	5/13			chr10	TogoVar
ITPR2_chr12_26330352_26838194	26784357	C C	CTCCTCTC others(165): Show CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTGCCTCTCCCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTCTCGCTC TCGCTCTCGCTCTCCTTCCGCGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0002 a0001c0057t0002	a0001c0057t0002g0054 a0001c0057t0002g0054	1	142	0.0070	172	c.163 others(189): Show c.163+5799_163+5800insCCGCGGAAGGAGAGCGAGAGCGAGAGCG AGAGCGAGAGCGAGAGCGAGAGCGAGAGCGAGAGGGAGAGGCAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
KDSR_chr18_63322726_63372206	63361017	A A	ATATATAT others(165): Show ATATATATATAATATATAATATATATAATAAAAATATATATTTTATATAT ATATAATATATATAATAAAAATATATATTTTATATATATAATATATAATA TATATAATAAAAATATATATTATATATATATAATATATAATATATATAAT AAAAATATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0329 a0001c0002t0049g0329	1	406	0.0025	172	c.199 others(189): Show c.199-1226_199-1225insATATATATAAAATATATATTTTTATTAT ATATATTATATATTATATATATATAATATATATTTTTATTATATATATTA TATATTATATATATAAAATATATATTTTTATTATATATATTATATATATA TAAAATATATATTTTTATTATATATATTATATATTATATATATA	KDSR	ENSG00000119537.18	transcript	ENST00000645214.2	protein_coding	2/9			chr18	TogoVar
KDSR_chr18_63322726_63372206	63361017	A A	ATATATAT others(165): Show ATATATATATAATATATAATATATATAATAAAAATATATATTTTATATAT ATATAATATATATAATAAAAATATATATTTTATATATATAATATATAATA TATATAATAAAAATATATATTTTATATATATAATATATAATATATATAAT AAAAATATATATTTTATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01167.hp2 others(7): Show HG00733.hp2 HG01106.hp1 HG01167.hp2 HG01175.hp2 HG01496.hp2 NA18969.hp1 NA18970.hp2 NA19081.hp1 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 others(1): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0016	a0001c0002t0003g0045 a0001c0002t0003g0314 a0001c0002t0003g0315 others(6): Show a0001c0002t0003g0045 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0003g0322 a0001c0002t0007g0326 a0001c0002t0011g0239 a0001c0002t0016g0267 a0001c0002t0016g0327 a0001c0002t0016g0328	10	406	0.0246	172	c.199 others(189): Show c.199-1226_199-1225insATATATATAAAATATATATTTTTATTAT ATATATTATATATTATATATATAAAATATATATTTTTATTATATATATTA TATATTATATATATAAAATATATATTTTTATTATATATATTATATATATA TAAAATATATATTTTTATTATATATATTATATATTATATATATA	KDSR	ENSG00000119537.18	transcript	ENST00000645214.2	protein_coding	2/9			chr18	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(165): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGG GCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATGTGCAGAGATG GGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0240 a0017c0020t0001g0240	1	375	0.0027	172	c.-22 others(183): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGA ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATGTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997285	G G	GGGGCGGG others(165): Show GGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG03927.hp2 HG02056.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0029 a0002c0002t0005 a0001c0003t0029 a0002c0002t0005	a0001c0003t0029g0333 a0002c0002t0005g0351 a0001c0003t0029g0333 a0002c0002t0005g0351	2	375	0.0053	172	c.-21 others(183): Show c.-2184_-2183insGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGA ATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		385		chr6	TogoVar
KIF26B_chr1_245149985_245714432	245198946	C C	CGGGGGAG others(165): Show CGGGGGAGGTGGGAGAGTGTGGTTGCTGAGCTGAGCTGAGCTGAGGCTGC AGTCCCAAGCGGGGGTGGGGGAGGTGAGGGGGGTGGGGGGTGGGGGGGGA TGGTGGGGGGGTGGGGTGGGGGGTGGGGGGTGGTGGGGGATGGTGGGGGG GTGGGGTGGGGGGTGGGGGGGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0089 a0002c0008t0004g0089	1	160	0.0063	172	c.465 others(191): Show c.465+42271_465+42272insTGGGAGAGTGTGGTTGCTGAGCTGAG CTGAGCTGAGGCTGCAGTCCCAAGCGGGGGTGGGGGAGGTGAGGGGGGTG GGGGGTGGGGGGGGATGGTGGGGGGGTGGGGTGGGGGGTGGGGGGTGGTG GGGGATGGTGGGGGGGTGGGGTGGGGGGTGGGGGGGTGGGGGGAGG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHL14_chr18_32667673_32778023	32696653	G G	GGCCAACT others(165): Show GGCCAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	204	0.0049	172	c.107 others(191): Show c.1070-1102_1070-1101insTTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTGGC	KLHL14	ENSG00000197705.10	transcript	ENST00000359358.9	protein_coding	3/8			chr18	TogoVar
KLHL18_chr3_47277944_47351816	47316683	G G	GTGTGTAT others(165): Show GTGTGTATATATATACATATATACGTATGTGTGTGTATATATACATATAT ACGTATATATGTATATGTGTGTATATATACATATATACGTATATATGTAT ATGTGTGTATATATACATATATACGTATATATGTATATGTGTGTATATAT ACATATATACGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03139.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0188 a0001c0001t0001g0189	2	338	0.0059	172	c.130 others(189): Show c.130-2965_130-2964insATATATATACATATATACGTATGTGTGT GTATATATACATATATACGTATATATGTATATGTGTGTATATATACATAT ATACGTATATATGTATATGTGTGTATATATACATATATACGTATATATGT ATATGTGTGTATATATACATATATACGTATATATGTATATGTGT	KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL23_chr2_169728832_169756878	169750102	A A	ATATACAC others(165): Show ATATACACGTATGTATACATATATGTGTATATATACGTATGTATGTATAC ATATATGTGTGTATATATGTATGTATGTATACATATATGTGTATATATAC GTTTGTATGTATACATATATGTGTATATATACGTATGTATGTATACATAT ATGTGTATATATACGTATGTATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp1 HG02965.hp2 HG03209.hp2 HG02717.hp1 HG02965.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0018 a0001c0001t0026g0165 a0001c0001t0026g0018 a0001c0001t0026g0165	3	400	0.0075	172	c.37 others(181): Show c.370_*371insTATACACGTATGTATACATATATGTGTATATATACG TATGTATGTATACATATATGTGTGTATATATGTATGTATGTATACATATA TGTGTATATATACGTTTGTATGTATACATATATGTGTATATATACGTATG TATGTATACATATATGTGTATATATACGTATGTATG	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	4/4	371		chr2	TogoVar
KLK7_chr19_50971468_50988917	50974964	C C	CCTGAGGG others(165): Show CCTGAGGGAGGAGGGGCTGGCGGGGGTGGGGTCTGAACTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGGAGTCTGGACTCCTGGGTCTGAGGAAGGAGGG GCTGGGGGCGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGCGGGG GGGGGGGGTCTGAACTCCTGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG02922.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0063 a0001c0001t0005g0036 a0001c0001t0005g0063	2	384	0.0052	172	c.25 others(183): Show c.2571_*2572insACCCAGGAGTTCAGACCCCCCCCCCCCGCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGACCGCCCCCAGCCCCTCCTTCCT CAGACCCAGGAGTCCAGACTCCCCCCAGCCCCTCCTCCCTCAGACCCAGG AGTTCAGACCCCACCCCCGCCAGCCCCTCCTCCCTCAG	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding		1503		chr19	TogoVar

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