Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
FGL1_chr8_17859389_17900524	17883105	A A	AATATATA others(166): Show AATATATAATATATATCATATGTAATATATTAAATATATAATATATATCA TATGTAATATATTAAATATATAATATATATCATATATAATATATTAAATA ATATATAATATATATCGTATATAATATATTAAATAATATATAATATATAT CGTATATAATATATTAAATAATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	366	0.0027	173	c.64- others(186): Show c.64-927_64-926insATATTATTTAATATATTATATACGATATATAT TATATATTATTTAATATATTATATACGATATATATTATATATTATTTAAT ATATTATATATGATATATATTATATATTTAATATATTACATATGATATAT ATTATATATTTAATATATTACATATGATATATATTATATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FLT3_chr13_27998274_28105576	27998891	T T	TTATATAT others(166): Show TTATATATATTTATATATATAAATATATGTTATATATATTTATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 NA18994.hp1 HG02135.hp1 NA18994.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0141 a0002c0002t0001g0007 a0002c0002t0001g0141	2	292	0.0069	173	c.51 others(184): Show c.5160_*5161insTTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA AATATATATAACATATATTTATATATATAAATATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4382		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998936	A A	AATATATA others(166): Show AATATATATATTTATATACATATAAATATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATATAAATATATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0023 a0023	a0023c0042 a0023c0042	a0023c0042t0001 a0023c0042t0001	a0023c0042t0001g0260 a0023c0042t0001g0260	1	292	0.0034	173	c.51 others(184): Show c.5115_*5116insAACATATATTTATATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATATTTATATGTATATAAATATATATAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4337		chr13	TogoVar
GATD1_chr11_762222_782487	763236	C C	CCCCCGCC others(166): Show CCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCC CCGCCCTCACCCGCCCCGCCCTCACCCGCCCCGCCCTCACCCGCCCCCGC CCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCC TCACCCGCCCCCGCCCTCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	430	0.0023	173	c.76 others(184): Show c.7660_*7661insATGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGC GGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGGGCGG GTGAGGGCGGGGCGGGTGAGGGCGGGGCGGGTGAGGGCGGGGCGGGTGAG GGCGGGGGCGGGTGAGGGCGGGGGCGGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3985		chr11	TogoVar
GLI2_chr2_120730868_120997653	120881779	T T	TGGGGGAA others(166): Show TGGGGGAAGGACAGTGGAGGGAGGGCAGGTGGGGGGAGGACAGTGGGGAG AAGACAGCCGGGGGAGGACAGAGTGGGGAGGACAGTGGGGAGAGGACAGT GGTGGGGAGGGCAGGTGGGGGGAAGGTAGGTGGGGGGAAGGTAGGTGGGG GAGGACAGTGGGGGAGGACAGGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02145.hp2 others(19): Show HG01891.hp2 HG02055.hp1 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03688.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0008 a0010 a0012 a0013 a0014	a0001c0002 a0001c0003 a0001c0026 others(12): Show a0001c0002 a0001c0003 a0001c0026 a0002c0001 a0002c0004 a0002c0024 a0003c0005 a0003c0012 a0003c0013 a0003c0018 a0008c0031 a0010c0027 a0012c0029 a0013c0017 a0014c0028	a0001c0002t0001 a0001c0003t0007 a0001c0003t0011 others(17): Show a0001c0002t0001 a0001c0003t0007 a0001c0003t0011 a0001c0026t0020 a0002c0001t0002 a0002c0001t0012 a0002c0001t0026 a0002c0001t0038 a0002c0004t0009 a0002c0004t0023 a0002c0024t0003 a0003c0005t0008 a0003c0012t0041 a0003c0013t0001 a0003c0018t0028 a0008c0031t0017 a0010c0027t0025 a0012c0029t0005 a0013c0017t0040 a0014c0028t0013	a0001c0002t0001g0057 a0001c0002t0001g0146 a0001c0003t0007g0051 others(19): Show a0001c0002t0001g0057 a0001c0002t0001g0146 a0001c0003t0007g0051 a0001c0003t0011g0018 a0001c0026t0020g0151 a0002c0001t0002g0024 a0002c0001t0002g0071 a0002c0001t0012g0100 a0002c0001t0026g0034 a0002c0001t0038g0148 a0002c0004t0009g0003 a0002c0004t0023g0115 a0002c0024t0003g0093 a0003c0005t0008g0023 a0003c0012t0041g0030 a0003c0013t0001g0001 a0003c0018t0028g0097 a0008c0031t0017g0008 a0010c0027t0025g0126 a0012c0029t0005g0011 a0013c0017t0040g0036 a0014c0028t0013g0098	22	160	0.1375	173	c.149 others(192): Show c.149-45578_149-45577insGAAGGACAGTGGAGGGAGGGCAGGTG GGGGGAGGACAGTGGGGAGAAGACAGCCGGGGGAGGACAGAGTGGGGAGG ACAGTGGGGAGAGGACAGTGGTGGGGAGGGCAGGTGGGGGGAAGGTAGGT GGGGGGAAGGTAGGTGGGGGAGGACAGTGGGGGAGGACAGGTGGGGG	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GMEB2_chr20_63582605_63632101	63608589	C C	CTGACCCA others(166): Show CTGACCCACACATCCATTTCTAGAAACATGCCCCTGTGACCCCACATCCA TTTCTAGAAACATGCCCCTCTGACCCACACCTCCATTTCTAGAAACATGC CCCTCTGACCTCACCTCCATTTCTAGAAACATGCCCCTCTGACCCACACC TCCATTTCTAGAAACATGCCCCTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0038 a0001c0007t0007g0038	1	330	0.0030	173	c.132 others(190): Show c.132-3750_132-3749insCAGGGGCATGTTTCTAGAAATGGAGGTG TGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGAGGTCAGAGGGGCAT GTTTCTAGAAATGGAGGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGA TGTGGGGTCACAGGGGCATGTTTCTAGAAATGGATGTGTGGGTCA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609550	A A	ACCCACAC others(166): Show ACCCACACCTCCATTTCTAGAAACATGCCCCTCTGACCTCACCTCCATTT CTAGAAACATGCCCCTCTGACCCACACATCCATTTCTAGAAACATGCCCC TCTGACCCCACCTCCATTTCTAGAAACATGCCCCTCTGACCCCACATCCA TTTCTAGAAACATGCCCCTCTGAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG01069.hp1 others(8): Show HG00280.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0008 a0001c0005t0005g0270 a0001c0005t0005g0271 others(6): Show a0001c0005t0005g0008 a0001c0005t0005g0270 a0001c0005t0005g0271 a0001c0005t0005g0272 a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0275 a0001c0005t0005g0276 a0001c0005t0005g0277	11	330	0.0333	173	c.132 others(190): Show c.132-4711_132-4710insGTCAGAGGGGCATGTTTCTAGAAATGGA TGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGGTCAGAGGGG CATGTTTCTAGAAATGGATGTGTGGGTCAGAGGGGCATGTTTCTAGAAAT GGAGGTGAGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGTGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(166): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAA AAATATATATATTATATATAATTTAATATTAAATATATATATAATATATA TATTTAATATTAAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(66): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02148.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18957.hp2 NA18961.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19066.hp2 NA19068.hp1 NA19081.hp1 NA19082.hp2 NA19086.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0027 a0001c0001t0031 a0001c0001t0033 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0055 a0001c0001t0062 a0001c0001t0064 a0001c0001t0070 a0001c0001t0071 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0002c0002t0002	a0001c0001t0001g0079 a0001c0001t0001g0137 a0001c0001t0001g0174 others(66): Show a0001c0001t0001g0079 a0001c0001t0001g0137 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0164 a0001c0001t0002g0176 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0271 a0001c0001t0003g0097 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0199 a0001c0001t0003g0251 a0001c0001t0004g0165 a0001c0001t0007g0189 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0119 a0001c0001t0009g0072 a0001c0001t0009g0082 a0001c0001t0009g0197 a0001c0001t0010g0118 a0001c0001t0012g0192 a0001c0001t0013g0037 a0001c0001t0013g0042 a0001c0001t0015g0138 a0001c0001t0017g0078 a0001c0001t0027g0073 a0001c0001t0027g0117 a0001c0001t0031g0047 a0001c0001t0031g0049 a0001c0001t0033g0280 a0001c0001t0033g0281 a0001c0001t0046g0180 a0001c0001t0047g0185 a0001c0001t0048g0048 a0001c0001t0055g0186 a0001c0001t0062g0129 a0001c0001t0064g0132 a0001c0001t0070g0159 a0001c0001t0071g0050 a0001c0001t0073g0269 a0001c0001t0075g0046 a0001c0001t0076g0178 a0001c0001t0080g0128 a0001c0001t0081g0161 a0001c0001t0083g0200 a0001c0001t0085g0272 a0001c0001t0087g0279 a0001c0001t0088g0282 a0002c0002t0002g0080	69	282	0.2447	173	c.321 others(192): Show c.321+27822_321+27823insTTATATATATTTTAATATTAAATATA TATATTATATATATATTTAATATTAAATTATATATAATATATATATTTTT CTATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATA TTTTCTATTAAATATATATATTATATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(166): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAA AAATATATATATTATATATAATTTAATATTAAATATATATATAATATATA TATTTAATATTAAAATATATATTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0160 a0001c0001t0010g0160	1	282	0.0036	173	c.321 others(192): Show c.321+27822_321+27823insTAATATATATTTTAATATTAAATATA TATATTATATATATATTTAATATTAAATTATATATAATATATATATTTTT CTATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATA TTTTCTATTAAATATATATATTATATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894338	T T	TTATATAT others(166): Show TTATATATATTTAATAGAAAATATATAATATATATATTTAATAGAAAATA TATAATATATATTTAATAGAAAATATATATAATATATATATTTAATAGAA AAATATATATATTATATATATTTTAATATTAAATATATATATAATATATA TATTTAATATTAAAATATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(32): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00733.hp1 HG01169.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02896.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03942.hp2 NA18906.hp2 NA18994.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0028 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0068	a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0001g0166 others(32): Show a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0002g0044 a0001c0001t0002g0060 a0001c0001t0008g0070 a0001c0001t0009g0034 a0001c0001t0009g0087 a0001c0001t0009g0140 a0001c0001t0009g0173 a0001c0001t0010g0065 a0001c0001t0010g0066 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0012g0043 a0001c0001t0012g0057 a0001c0001t0012g0061 a0001c0001t0012g0071 a0001c0001t0015g0133 a0001c0001t0015g0134 a0001c0001t0015g0136 a0001c0001t0017g0052 a0001c0001t0017g0064 a0001c0001t0028g0062 a0001c0001t0049g0053 a0001c0001t0050g0039 a0001c0001t0052g0063 a0001c0001t0053g0059 a0001c0001t0068g0171	35	282	0.1241	173	c.321 others(192): Show c.321+27822_321+27823insTTATATATATTTTAATATTAAATATA TATATTATATATATATTTAATATTAAAATATATATAATATATATATTTTT CTATTAAATATATATATTATATATATTTTCTATTAAATATATATTATATA TTTTCTATTAAATATATATATTATATATTTTCTATTAAATATATATA	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TGTGTTAG others(166): Show TGTGTTAGACACGGTGGACTCGTTCGTGTTAGACACGGTGGGTTCGTTCG TGTTAGACACGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTG TTAGACGCGGTGGACTCCTTCGTGTTGTGTTAGACACGGTGGACTCGTTC GTGTTAGACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp2 HG03225.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0214 a0003c0003t0003g0249 a0001c0001t0001g0214 a0003c0003t0003g0249	2	441	0.0045	173	c.35- others(186): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGTGTCTAACACAACACGAAGGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGTGTCTAACACGAACGAA CCCACCGTGTCTAACACGAACGAGTCCACCGTGTCTAACAC	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7			chr19	TogoVar
GPATCH2_chr1_217421992_217636090	217524937	A A	AGAGGGAG others(166): Show AGAGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAG AGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGAGAGGGGAGAGGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	188	0.0053	173	c.109 others(194): Show c.1099-10049_1099-10048insCCCCTCTCCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT CTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCTC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GRIN1_chr9_137134154_137173756	137144731	T T	TGTGGGGA others(166): Show TGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCC CCAGAGGGGTGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCCAG AAAGTGTCCCCAGAGGGGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAG GGTCCAGAAAGTGTCCCCAGAGGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03942.hp2 HG02602.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0137 a0001c0003t0001g0138	2	298	0.0067	173	c.394 others(188): Show c.394-958_394-957insTAGAAAGTGTCCCCAGAGGGGTGTGGGGAC CGGGGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGG TGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCC AGAGGGGTGGGGACAGGAGTGAGAGGAAGGGGGTCCCAGGGTC	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRM5_chr11_88499642_89070982	88687571	A A	ATTATATA others(166): Show ATTATATATATATTATATATATATTATATATATATTATATATATTATATA TATATTATATATATATTATATATATAATATATATATTATATATATATTAT ATATATATTATATATATAATATATATAATATATATATTATATATATATAT TATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0174 a0001c0002t0010g0174	1	184	0.0054	173	c.912 others(192): Show c.912-34169_912-34168insATATATATATATTATATATATATAAT ATATATATATAATATATATATTATATATATTATATATATAATATATATAT AATATATATATAATATATATATTATATATATAATATATATATAATATATA TATAATATATATAATATATATATAATATATATATAATATATATATAA	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GSE1_chr16_85608322_85681200	85653208	C C	CCTCCCCC others(166): Show CCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0196 a0001c0001t0009g0196	1	290	0.0035	173	c.427 others(190): Show c.427-1069_427-1068insTCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653208	C C	CCTCCCCC others(166): Show CCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	290	0.0035	173	c.427 others(190): Show c.427-1069_427-1068insTCCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC	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(166): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01934.hp1 HG03492.hp2 others(2): Show HG00544.hp2 HG01934.hp1 HG03492.hp2 NA18952.hp2 NA19004.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0052 a0001c0001 a0011c0052	a0001c0001t0002 a0001c0001t0009 a0011c0052t0002 a0001c0001t0002 a0001c0001t0009 a0011c0052t0002	a0001c0001t0002g0059 a0001c0001t0002g0149 a0001c0001t0002g0153 others(2): Show a0001c0001t0002g0059 a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0009g0029 a0011c0052t0002g0122	5	290	0.0172	173	c.427 others(190): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(166): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCTCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	290	0.0035	173	c.427 others(190): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCTCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
HECW1_chr7_43107647_43571001	43316769	T T	TCTCTCCT others(166): Show TCTCTCCTCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCTTTCCCCTTCC CTCCCCTCCCCTTCCCTCCCCTTCCTTCTCCTCCCCTCCCCTCCCCTTCC TTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTTCCCT CCTCTCCCCTCATCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0059 a0001c0002t0005g0059	1	182	0.0055	173	c.353 others(190): Show c.353-3847_353-3846insCCTCCCCCCTCTCCTCTCCTTTCCCCTT CCCTCCCCTCCCCTTCCCTCCCCTTCCTTCTCCTCCCCTCCCCTCCCCTT CCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTTCC CTCCTCTCCCCTCATCCCCTCCCCTCCTCTCCTCCCCTCCCCTCC	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HRH3_chr20_62209960_62225278	62213592	G G	GAAGGAGA others(166): Show GAAGGAGAGCGGGGATGGGGGAGGGAGAGCAGGGATGGGGGGAAGGGAGA GCAGGGATCGGGGGGAAGGAGAGTGGGGATGGGGGGTAAGGAGAGCGGGG ATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGCGGGGATGGGG GAAGGGAGAGCAGGGATGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	368	0.0027	173	c.24 others(184): Show c.2413_*2414insACCCCCCATCCCTGCTCTCCCTTCCCCCATCCCC GCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCCACCCATCCCCGCTCTC CTTACCCCCCATCCCCACTCTCCTTCCCCCCGATCCCTGCTCTCCCTTCC CCCCATCCCTGCTCTCCCTCCCCCATCCCCGCTCTCCTT	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1367		chr20	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(166): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCT CCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCT CCCCGCCTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	330	0.0030	173	c.124 others(188): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCGCCGC CTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFI44L_chr1_78615448_78651145	78643143	A A	AGAAAGCA others(166): Show AGAAAGCAAGAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0085 a0002c0002t0085	a0002c0002t0085g0007 a0002c0002t0085g0007	1	430	0.0023	173	c.13 others(184): Show c.1351_*1352insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCGAAAGCAAGAGTTTCTT	IFI44L	ENSG00000137959.17	transcript	ENST00000370751.10	protein_coding	9/9	1352	INFO_REALIGN_3_PRIME	chr1	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(166): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG02145.hp1 NA20129.hp2 HG01123.hp2 HG02145.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	3	376	0.0080	173	c.-43 others(182): Show c.-430_-429insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTCTGAGGACAGGGGTGTGGGCACAGGGGTCCTGGGGA CAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132158940	G G	GTGGGAGG others(166): Show GTGGGAGGGGCATCTTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCTGT GTGATGCTGTGGGAGGGGCATCTTCCTGTGTGATGCTGTGGGAGGGGCAT CTTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCTTTATGATGCTGTGGG AGGGGCATCTTCCTTTGTGATGCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0039 a0002c0031t0039	a0002c0031t0039g0088 a0002c0031t0039g0088	1	158	0.0063	173	c.222 others(192): Show c.2221-4269_2221-4268insTGGGAGGGGCATCTTCCTGTGTGATG CTGTGGGAGGGGCATCTTCCTGTGTGATGCTGTGGGAGGGGCATCTTCCT GTGTGATGCTGTGGGAGGGGCATCTTCCTGTGTGATGCTGTGGGAGGGGC ATCTTCCTTTATGATGCTGTGGGAGGGGCATCTTCCTTTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
KAT2B_chr3_20035446_20159404	20062025	C C	CATAATAT others(166): Show CATAATATATATTATATAAAACATATAATATATATTATATATAAAACATA TAATATATATTATATATAAAACATATAATATATATTATATATAAAACATA TAATATATATTATATATAAAACATATAATATATATTATATATAAAACATA TAATATATATTATATATAAAACAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00597.hp2 others(28): Show HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG02922.hp1 HG03139.hp2 HG03486.hp2 HG03927.hp1 HG03942.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp1 NA18993.hp2 NA19000.hp2 NA19007.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19074.hp1 NA19079.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0007c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0072 others(28): Show a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0235 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0288 a0001c0001t0001g0336 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0002g0044 a0001c0001t0002g0070 a0001c0001t0002g0357 a0001c0001t0003g0221 a0001c0001t0003g0272 a0001c0001t0003g0273 a0007c0012t0001g0234	31	374	0.0829	173	c.304 others(192): Show c.304-10291_304-10290insAAACATATAATATATATTATATATAA AACATATAATATATATTATATATAAAACATATAATATATATTATATATAA AACATATAATATATATTATATATAAAACATATAATATATATTATATATAA AACATATAATATATATTATATATAAAACATATAATATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNIP_chr16_27545144_27785344	27713812	A A	ACATATTA others(166): Show ACATATTATATATGTGTGTGTATATATATACACATACATATTATATATAT GTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATATA TATACACATACATATTATATATATGTGTGTGTATATGTATATATACACAT ATTATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0005 a0011c0017t0005	a0011c0017t0005g0151 a0011c0017t0005g0151	1	152	0.0066	173	c.160 others(192): Show c.1605+4892_1605+4893insCATATTATATATGTGTGTGTATATAT ATACACATACATATTATATATATGTGTGTGTATATATATACACATACATA TTATATATATGTGTGTGTATATATATACACATACATATTATATATATGTG TGTGTATATGTATATATACACATATTATATATGTGTGTGTGTGTGTG	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27			chr16	TogoVar
KIF25_chr6_167992671_168050091	167997483	G G	GGGGCGAC others(166): Show GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGCGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0150	1	375	0.0027	173	c.-19 others(184): Show c.-1986_-1985insGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGCGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		187		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(166): Show CGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGC TGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	375	0.0027	173	c.317 others(190): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGG GCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGG AACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF26B_chr1_245149985_245714432	245198946	C C	CGGGGGAG others(166): Show CGGGGGAGGTGGGAGAGTGTGGTTGCTGAGCTGAGCTGAGCTGAGGCTGC AGTCCCAAGCGGGGGTGGGGGAGGTGAGGGGGGTGGGGGGTGGGGGGGGA TGGTGGGGGGGGTGGGGTGGGGGGTGGGGGGTGGTGGGGGATGGTGGGGG GGTGGGGTGGGGGGTGGGGGGGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0092 a0002c0003t0004g0092	1	160	0.0063	173	c.465 others(192): Show c.465+42271_465+42272insTGGGAGAGTGTGGTTGCTGAGCTGAG CTGAGCTGAGGCTGCAGTCCCAAGCGGGGGTGGGGGAGGTGAGGGGGGTG GGGGGTGGGGGGGGATGGTGGGGGGGGTGGGGTGGGGGGTGGGGGGTGGT GGGGGATGGTGGGGGGGTGGGGTGGGGGGTGGGGGGGTGGGGGGAGG	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF26B_chr1_245149985_245714432	245443875	C C	CTCACTGT others(166): Show CTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGG TCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCT GCGGTCATCTCCCTCACTGTTCACCTAGAGTGGTCATCTCCCTCACTGTT CACCTAGAGGAGAGGTCATCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG00738.hp1 others(12): Show HG00408.hp1 HG00639.hp2 HG00738.hp1 HG01071.hp1 HG01192.hp2 HG02056.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02976.hp1 NA18522.hp1 NA18906.hp1 NA19002.hp1 NA19011.hp2 NA20300.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0001c0013 a0001c0022 a0001c0055 a0003c0006 a0003c0030 a0003c0031 a0005c0017 a0005c0058 a0006c0015	a0001c0001t0002 a0001c0002t0005 a0001c0002t0050 others(11): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0050 a0001c0004t0040 a0001c0009t0012 a0001c0013t0001 a0001c0022t0055 a0001c0055t0027 a0003c0006t0021 a0003c0030t0074 a0003c0031t0076 a0005c0017t0009 a0005c0058t0079 a0006c0015t0060	a0001c0001t0002g0062 a0001c0002t0005g0017 a0001c0002t0005g0139 others(12): Show a0001c0001t0002g0062 a0001c0002t0005g0017 a0001c0002t0005g0139 a0001c0002t0050g0102 a0001c0004t0040g0096 a0001c0009t0012g0099 a0001c0013t0001g0056 a0001c0022t0055g0137 a0001c0055t0027g0080 a0003c0006t0021g0025 a0003c0030t0074g0021 a0003c0031t0076g0030 a0005c0017t0009g0143 a0005c0058t0079g0043 a0006c0015t0060g0004	15	160	0.0938	173	c.116 others(194): Show c.1166+24142_1166+24143insTAGAGCGGTCATCTCCCTCACTGT TCACCTAGAGCGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCT CACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGTGGTCAT CTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACC	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KRTAP10-1_chr21_44533981_44545195	44534234	G G	GGGGTGGG others(166): Show GGGGTGGGGCTGGTGTGTGAGGGGTGGAGCTGGTGTGAGGGGGCGGGGCT GGTGTGTGAGGGGTGGGGCTTGTGTGAGGGGGCAGGGCTGGTGTGTGTGG GGCAGGGCTGGTGTGTGAGGGGTGGGGCTGGTGTGGGGCGGGGCTGGTGT GTGAGGGGTGGGGCTGGTGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02818.hp2 others(2): Show HG02145.hp2 HG02486.hp1 HG02818.hp2 HG03139.hp2 HG03453.hp2	a0001 a0008 a0019 others(2): Show a0001 a0008 a0019 a0028 a0032	a0001c0036 a0008c0013 a0019c0024 others(2): Show a0001c0036 a0008c0013 a0019c0024 a0028c0030 a0032c0040	a0001c0036t0001 a0008c0013t0001 a0019c0024t0001 others(2): Show a0001c0036t0001 a0008c0013t0001 a0019c0024t0001 a0028c0030t0001 a0032c0040t0001	a0001c0036t0001g0000 a0008c0013t0001g0000 a0019c0024t0001g0000 others(2): Show a0001c0036t0001g0000 a0008c0013t0001g0000 a0019c0024t0001g0000 a0028c0030t0001g0000 a0032c0040t0001g0000	5	438	0.0114	173	c.50 others(184): Show c.5067_*5068insTCACACACCAGCCCCACCCCTCACACACCAGCCC CGCCCCACACCAGCCCCACCCCTCACACACCAGCCCTGCCCCACACACAC CAGCCCTGCCCCCTCACACAAGCCCCACCCCTCACACACCAGCCCCGCCC CCTCACACCAGCTCCACCCCTCACACACCAGCCCCACCC	KRTAP10-1	ENSG00000215455.4	transcript	ENST00000400375.1	protein_coding		4746		chr21	TogoVar
LHPP_chr10_124456823_124619141	124610594	A A	AGGTGAGG others(166): Show AGGTGAGGGTGCTGATGGAGCGGGGCGGAGGGTGAGGGTGAGGGTGCTGA TGGAGGCGGGTGAGGGTGCGGGGTGAGGGTGCTGATGGAGCGGTGTGAGG GTGAGGGTGAGGGTGAGGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGT TGACGGAGGCGGGTGAGGGGTGAG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	260	0.0039	173	c.717 others(190): Show c.717-2647_717-2646insGCGGAGGGTGAGGGTGAGGGTGCTGATG GAGGCGGGTGAGGGTGCGGGGTGAGGGTGCTGATGGAGCGGTGTGAGGGT GAGGGTGAGGGTGAGGGGTGCTGATGGAGCGGGTGAGGGTGAGGGTGTTG ACGGAGGCGGGTGAGGGGTGAGGGTGAGGGTGCTGATGGAGCGGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRCOL1_chr12_132598151_132615582	132598569	G G	GCCCCGCC others(166): Show GCCCCGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCT CCGCGCGCCCCGCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCC CGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCTCCTCCTCTCC GCGCGCCCCCTCCTCTCCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	390	0.0026	173	c.48 others(184): Show c.4832_*4833insGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG AGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGG AGAGGAGGCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAGGAGGGG GCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGCGGGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4581		chr12	TogoVar
LRFN5_chr14_41601876_41909549	41659720	C C	CCTGACTT others(166): Show CCTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0111 a0001c0006t0001g0111	1	280	0.0036	173	c.-19 others(194): Show c.-197+51168_-197+51169insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCACTGACTTTTT	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(166): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0151 a0005c0005t0001g0151	1	436	0.0023	173	c.40 others(184): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGTAAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAEA_chr4_1284891_1345137	1333897	C C	CCGTGTGC others(166): Show CCGTGTGCTCACCCCTGCATCCACCCCCATGCCCACCGTGTGCTCACCCC TGCATCCACCCCCATGCCCACCGTGTGCTCACCCCTGCATCCACCCCCAT GCCCACCGTGTGCTCACCCCTGTGCTCACCCCTGTGCCCACCCCATGCCC ACCATGTGCTCACCCCTGTGCCCA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	388	0.0026	173	c.765 others(190): Show c.765+1033_765+1034insGTGTGCTCACCCCTGCATCCACCCCCAT GCCCACCGTGTGCTCACCCCTGCATCCACCCCCATGCCCACCGTGTGCTC ACCCCTGCATCCACCCCCATGCCCACCGTGTGCTCACCCCTGTGCTCACC CCTGTGCCCACCCCATGCCCACCATGTGCTCACCCCTGTGCCCAC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333909	C C	CCCCATGC others(166): Show CCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTG CTCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCCATGCCCACCC CATGCCCACCATGTGCTCACCCCTGCACCCACCCCCATGCCCGTGTGCTC ACCCCTGCACCCATCCCATGCCTA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0005	2	388	0.0052	173	c.765 others(190): Show c.765+1045_765+1046insCCATGCCCACCATGTGCCCACCCCTGCA CCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCCGTGT GCTCACCCCCATGCCCACCCCATGCCCACCATGTGCTCACCCCTGCACCC ACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTAC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGI3_chr1_113385515_113690923	113416138	A A	AATTATGT others(166): Show AATTATGTAATTAATGACACATATTATTATGTGTAATTAATGACACATAT TATTATGTGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACACATA TTAATTATGTAATTAATGACACAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	236	0.0042	173	c.316 others(192): Show c.316+24820_316+24821insGTAATTAATGACACATATTATTATGT GTAATTAATGACACATATTAATTATGTAATTAATGACACATATTAATTAT GTAATTAATGACACATATTAATTATGTAATTAATGACACATATTAATTAT GTAATTAATGACACATATTATGTAATTAATGACACATATTATTATGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579099	G G	GCACCACC others(166): Show GCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACC ACCCTTCACCACCATCACCACCACCACCATCACCACCACCATCACCATCA CCACTACCACCACCACCACCATCACCACCACCATCACCATCACCACCCTT CACCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0016 a0011c0009t0016	a0011c0009t0016g0026 a0011c0009t0016g0026	1	362	0.0028	173	c.391 others(188): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCATCACCACCACCACCATCACCACCACCATCACCAT CACCACTACCACCACCACCACCATCACCACCACCATCACCATCACCACCC TTCACCACCATCACCACCACCACCATCACCACCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478003	G G	GGAGAGAG others(166): Show GGAGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGTGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGG GAGGGGGAGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	163	0.0061	173	c.525 others(190): Show c.525+8478_525+8479insTCCCCCCTCCCCCCTCTCCCCCTCCCCC CTCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCC CACCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBTPS1_chr16_84048763_84121942	84050906	G G	GCCCACAT others(166): Show GCCCACATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGA GCTACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGT AAGAAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCA TGTGGGTAAGGAGAGCGGCAAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00423.hp2 others(71): Show HG00140.hp1 HG00280.hp2 HG00423.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02132.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02630.hp2 HG02886.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp2 HG03669.hp1 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp1 NA18953.hp1 NA18959.hp1 NA18962.hp1 NA18965.hp1 NA18972.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19062.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19087.hp1 NA20300.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0019 a0007c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0001c0001t0033 a0001c0002t0004 a0001c0002t0009 a0001c0003t0003 a0001c0003t0007 a0001c0003t0043 a0001c0004t0002 a0001c0019t0005 a0007c0015t0003	a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0051 others(66): Show a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0005g0019 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0313 a0001c0001t0005g0314 a0001c0001t0005g0315 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0322 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0007g0188 a0001c0001t0020g0024 a0001c0001t0020g0025 a0001c0001t0033g0220 a0001c0002t0004g0296 a0001c0002t0009g0014 a0001c0003t0003g0003 a0001c0003t0003g0020 a0001c0003t0003g0332 a0001c0003t0003g0333 a0001c0003t0003g0334 a0001c0003t0003g0335 a0001c0003t0003g0336 a0001c0003t0003g0338 a0001c0003t0003g0339 a0001c0003t0003g0340 a0001c0003t0003g0341 a0001c0003t0003g0342 a0001c0003t0003g0343 a0001c0003t0003g0346 a0001c0003t0003g0347 a0001c0003t0003g0349 a0001c0003t0003g0350 a0001c0003t0003g0351 a0001c0003t0003g0352 a0001c0003t0003g0353 a0001c0003t0003g0354 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0358 a0001c0003t0003g0361 a0001c0003t0003g0364 a0001c0003t0003g0365 a0001c0003t0003g0366 a0001c0003t0007g0028 a0001c0003t0007g0029 a0001c0003t0007g0030 a0001c0003t0043g0344 a0001c0004t0002g0009 a0001c0004t0002g0048 a0001c0019t0005g0321 a0007c0015t0003g0345	74	424	0.1745	173	c.35 others(184): Show c.3542_*3543insGCCTTGCCGCTCTCCTTACCCACATGCGGGCCTT GCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTTCTTACCCACATGC GGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTTACC CACATGCGGGCCTTGCCGCTCTCCTTACCCACATGTGGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2856		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84050906	G G	GCCCACAT others(166): Show GCCCACATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGGGTAAGGAGA GCTACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATGTGGGT AAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCA TGTGGGTAAGGAGAGCGGCAAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0011 a0003c0022t0011	a0003c0022t0011g0235 a0003c0022t0011g0235	1	424	0.0024	173	c.35 others(184): Show c.3542_*3543insGCCTTGCCGCTCTCCTTACCCACATGCGGGCCTT GCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGC GGCCTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTTACC CACATGCGGGCCTTGCCGCTCTCCTTACCCACATGTGGG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2856		chr16	TogoVar
MICALL2_chr7_1429359_1464470	1446306	A A	AGGCGGAG others(166): Show AGGCGGAGCAGTAGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAG TGAGAGAAGGGGGGGAGGAGGAGGAAAAGGGGAGGAGGCGGAGCAGTAGG GAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGG AGGAGGGGAAAAAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	280	0.0036	173	c.641 others(188): Show c.641+406_641+407insCTCCTCCCTCCTTTTTCCCCTCCTCCCCCC TTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACT GCTCCGCCTCCTCCCCTTTTCCTCCTCCTCCCCCCCTTCTCTCACTCCTC CCCCCTCCTCTCCCTCTTCACTCTTCTCTCCTACTGCTCCGCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MICB_chr6_31493145_31516124	31498593	T T	TAGTAGCT others(166): Show TAGTAGCTGGGACTACAGACGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCG	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	459	0.0022	173	c.70+ others(186): Show c.70+347_70+348insACGCCCGCCACCACGCCCGGCTAATTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG	MICB	ENSG00000204516.10	transcript	ENST00000252229.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
MIOX_chr22_50481859_50495648	50488546	C C	CCCCCCCC others(166): Show CCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGG ATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCCCCCCGACGGCT GCCTGTCCCTCTGGTGGCCTTGGTGCTTGGCCTGGGATACTACCTGGGGG ACAGGCCAGTGCACCCCCCCACGG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	436	0.0023	173	c.408 others(188): Show c.408+292_408+293insCCCCGACGGCTGCCTGTCCCTCTGGTGGCC TTGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCC CACGGCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCC TGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCCACGGCC	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
MIOX_chr22_50481859_50495648	50488546	C C	CCCCCCCC others(166): Show CCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGG ATACTACCTGGGGGACAGGCCAGTGCACCCCCCCACGGCCCCCCCACGGC TGCCTGTCCCTCTGGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGG GACAGGCCAGTGCACCCCCCACGG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0048 a0001c0002t0002g0048	1	436	0.0023	173	c.408 others(188): Show c.408+286_408+287insCACGGCCCCCCCACGGCTGCCTGTCCCTCT GGTGGCCTCGGTGCTTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGC ACCCCCCACGGCCCCCCCACGGCTGCCTGTCCCTCTGGTGGCCTCGGTGC TTGGCCTGGGATACTACCTGGGGGACAGGCCAGTGCACCCCCC	MIOX	ENSG00000100253.13	transcript	ENST00000216075.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPG_chr16_73225_90846	81793	T T	TCCCCACG others(166): Show TCCCCACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCC TGAATACTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAA GGCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTATCT CCGGGAAGGCCTCCTGAATACTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	442	0.0023	173	c.301 others(190): Show c.301-1256_301-1255insCACGCTGGCCCCTTCTTCCCACCACCCT ACCTCCGGGAAGGCCTCCTGAATACTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCACGCTGGCCCCTT CTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATACTCCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82196	C C	CACGCTGG others(166): Show CACGCTGGCCCCTTCTTCCCACCACCCTACCTCCGGGAAGCCCTCCTGAA TGCTCCCCACGCTGGCCCCTTCTTCCCACCACCCTATCTCCGGGAAGCCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGG GAAGCCCTCCTGAATACTCCCCCG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19064.hp1 NA19012.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	442	0.0045	173	c.301 others(188): Show c.301-856_301-855insACGCTGGCCCCTTCTTCCCACCACCCTACC TCCGGGAAGCCCTCCTGAATGCTCCCCACGCTGGCCCCTTCTTCCCACCA CCCTATCTCCGGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTATCTCCGGGAAGCCCTCCTGAATACTCCCCCG	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MPG_chr16_73225_90846	82236	C C	CCCTCCTG others(166): Show CCCTCCTGAATACTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCTACC TCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTT CCCACCACCCTACCTCCGGGAAGG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	442	0.0023	173	c.301 others(188): Show c.301-806_301-805insACTCCCCCGGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGCCCTCCTGAATACTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
MPG_chr16_73225_90846	82247	G G	GCTCCCCG others(166): Show GCTCCCCGCGCTGGCCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTATCTCCGGG AAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTCTTCCCACCACCCT ACCTCCGGGAAGGCCTCCTGAATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	442	0.0023	173	c.301 others(188): Show c.301-799_301-798insGCGCTGGCCCCTTCTTCCCACCACCCTACC TCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCA CCCTATCTCCGGGAAGGCCTCCTGAATGCTCCCCCGGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATACTCCCC	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr16	TogoVar

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