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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
IQCJ_chr3_159064319_159268747	159229783	C C	CCCCCTCC others(231): Show CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCA CCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCC CCCTCCTCCCACTCCTCCTCCCCCCTCCTCCTCCCCCCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	252	0.0040	238	c.10- others(255): Show c.10-16060_10-16059insCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCC GTCTTCCTCCCCCACCTCCCCCCCTCCTCCCACTCCTCCTCCCCCCTCCT CCTCCCCCCA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3			chr3	TogoVar
IQSEC3_chr12_61767_183455	103869	G G	GGGGGTAG others(231): Show GGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGT GGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGT GGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0020 a0020	a0020c0047 a0020c0047	a0020c0047t0042 a0020c0047t0042	a0020c0047t0042g0236 a0020c0047t0042g0236	1	282	0.0036	238	c.623 others(255): Show c.623+4656_623+4657insGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGA GGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGG AGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAG GCGGGGCTCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103869	G G	GGGGGTAG others(231): Show GGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGT GGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGT GGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01168.hp1 others(8): Show HG00099.hp1 HG00280.hp1 HG01168.hp1 HG01255.hp1 HG01516.hp1 HG01517.hp2 HG02071.hp1 HG03669.hp2 NA18975.hp2 NA19004.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0019 a0002c0001 a0002c0009	a0001c0002t0002 a0001c0003t0010 a0001c0004t0001 others(5): Show a0001c0002t0002 a0001c0003t0010 a0001c0004t0001 a0001c0006t0002 a0001c0006t0010 a0001c0019t0034 a0002c0001t0001 a0002c0009t0002	a0001c0002t0002g0182 a0001c0003t0010g0155 a0001c0004t0001g0170 others(8): Show a0001c0002t0002g0182 a0001c0003t0010g0155 a0001c0004t0001g0170 a0001c0006t0002g0092 a0001c0006t0002g0189 a0001c0006t0002g0196 a0001c0006t0010g0209 a0001c0006t0010g0210 a0001c0019t0034g0244 a0002c0001t0001g0010 a0002c0009t0002g0270	11	282	0.0390	238	c.623 others(255): Show c.623+4656_623+4657insGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGA GGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGG AGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103869	G G	GGGGGTAG others(231): Show GGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGT GGAGTTCGTGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGT GGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	282	0.0036	238	c.623 others(255): Show c.623+4656_623+4657insGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGACTCAGGAGGGAGAGGTGGAGTTCGTGGGGAGGCAGGGCTGGGGGGA GGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGG AGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGG CTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25106528	T T	TCAGACTC others(231): Show TCAGACTCTGTCTCTTAAATATATATATATTATATATACATGTATTTATA TATATGCACACATATAAAATATATATTAAATATGTGCACATATATAAAAT ATGTGTATTATTAAATATGTATTATATAAATACATAATATATGCATAATA TATATGTGTATATAATCTATAAATATGTGTATATATAATATATATTTTTA ATATGTGTATATATAATATATATTTTTTTAAGAGACAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(139): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0007 a0001c0008 others(6): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0006c0005 a0008c0011 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0007t0001 a0001c0008t0001 a0002c0002t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0009 a0003c0003t0010 a0004c0004t0001 a0006c0005t0001 a0008c0011t0002 a0009c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(136): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0293 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0320 a0001c0001t0002g0281 a0001c0001t0006g0195 a0001c0007t0001g0129 a0001c0007t0001g0130 a0001c0007t0001g0131 a0001c0008t0001g0219 a0002c0002t0001g0063 a0002c0002t0001g0235 a0003c0003t0002g0093 a0003c0003t0002g0113 a0003c0003t0002g0122 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0125 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0150 a0003c0003t0002g0180 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0201 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0266 a0003c0003t0002g0286 a0003c0003t0004g0314 a0003c0003t0004g0315 a0003c0003t0004g0316 a0003c0003t0004g0317 a0003c0003t0004g0318 a0003c0003t0004g0319 a0003c0003t0005g0032 a0003c0003t0005g0033 a0003c0003t0005g0034 a0003c0003t0005g0036 a0003c0003t0009g0031 a0003c0003t0009g0078 a0003c0003t0010g0313 a0004c0004t0001g0190 a0004c0004t0001g0209 a0006c0005t0001g0019 a0006c0005t0001g0059 a0006c0005t0001g0064 a0006c0005t0001g0065 a0006c0005t0001g0066 a0006c0005t0001g0157 a0006c0005t0001g0165 a0006c0005t0001g0244 a0008c0011t0002g0077 a0009c0012t0001g0193	142	344	0.4128	238	c.114 others(255): Show c.1149-415_1149-414insCAGACTCTGTCTCTTAAATATATATATA TTATATATACATGTATTTATATATATGCACACATATAAAATATATATTAA ATATGTGCACATATATAAAATATGTGTATTATTAAATATGTATTATATAA ATACATAATATATGCATAATATATATGTGTATATAATCTATAAATATGTG TATATATAATATATATTTTTAATATGTGTATATATAATATATATTTTTTT AAGAGACAGA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21			chr12	TogoVar
IRAG2_chr12_25047706_25113335	25106550	G G	GTACAGTA others(231): Show GTACAGTAGTGCAACCATAGCTCACTACAGCCTCCAACTCCAGGGCTCAA GCAATCCCTGGAGTCCTGAGATCCTTGGGAGGAATCCCCTTTCTTGGCCT CCCAAAGTGCTGAGATTAAAGTGTTTAATAAAGTATGGTTAAACATGCAC ACACACACACATATATAGTTTTGGAAACAATCTGCCTCCCACCCTTTGTA ACTATTAGGATTAAAGAAATGCATATACATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(20): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG02258.hp1 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG02922.hp2 HG03139.hp2 NA18949.hp1 NA18950.hp2 NA18968.hp1 NA18968.hp2 NA18984.hp1 NA19054.hp1 NA19085.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0010	a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0089 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0169 a0001c0001t0001g0185 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0007t0001g0131 a0002c0002t0001g0160 a0003c0003t0001g0062 a0003c0003t0001g0159 a0003c0003t0002g0113 a0003c0003t0002g0180 a0003c0003t0004g0319 a0003c0003t0005g0033 a0003c0003t0010g0313	23	344	0.0669	238	c.114 others(255): Show c.1149-392_1149-391insACAGTAGTGCAACCATAGCTCACTACAG CCTCCAACTCCAGGGCTCAAGCAATCCCTGGAGTCCTGAGATCCTTGGGA GGAATCCCCTTTCTTGGCCTCCCAAAGTGCTGAGATTAAAGTGTTTAATA AAGTATGGTTAAACATGCACACACACACACATATATAGTTTTGGAAACAA TCTGCCTCCCACCCTTTGTAACTATTAGGATTAAAGAAATGCATATACAT ATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224731	T T	TCCATCCA others(231): Show TCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATCCATCCACCCACCCACCCACCCACCCACCCACCCACCCATCCA TCCACCCACCCACCCACCCATCCATCCACCCACCCCACCCACCCCATCCA TCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACC CACCCATCCATTTATCCACCTACCCACACATCCACCCAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0004 a0008c0011t0004	a0008c0011t0004g0254 a0008c0011t0004g0254	1	292	0.0034	238	c.121 others(257): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCACCCACCCA CCCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCCAC CCACCCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCC CACCAACCCACCCACCCATCCATTTATCCACCTACCCACACATCCACCCA CCCATCCATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGA3_chr17_50051110_50095481	50086211	T T	TATATATT others(231): Show TATATATTAGATTATATATTATACATTTATAATATATATATTAGATTATA TATTATACATTTATAATATATATTAGATTATATATATTATACATGTATAA TATATATATTAGATTATATATATTATACATGTATAATATATATTAGATTA TATATATTATACATGTATAATATATATATTAGATTATATATATTATACAT GTATAATATATATTAGATTATATATATTATACATGTATA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0138 a0002c0002t0003g0138	1	402	0.0025	238	c.292 others(257): Show c.2920-1527_2920-1526insTAGATTATATATTATACATTTATAAT ATATATATTAGATTATATATTATACATTTATAATATATATTAGATTATAT ATATTATACATGTATAATATATATATTAGATTATATATATTATACATGTA TAATATATATTAGATTATATATATTATACATGTATAATATATATATTAGA TTATATATATTATACATGTATAATATATATTAGATTATATATATTATACA TGTATAATATAT	ITGA3	ENSG00000005884.18	transcript	ENST00000320031.13	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
JAKMIP3_chr10_132060946_132189858	132160499	G G	GGGGTCTC others(231): Show GGGGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTGG GGGGGGGGTCTCCCTGTGTGATGCTGGGGGGGGCCTCTTCCTGTGTGATG CTGGTGGGGGTCTCCTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGT GATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTCTTCCT GTGTGATGCTAGGGGGTCTCTTCCTGTGTGATGCTGGGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01258.hp2 HG01167.hp2 HG01258.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0009 a0002c0008t0003g0010 a0002c0008t0003g0009 a0002c0008t0003g0010	2	158	0.0127	238	c.222 others(257): Show c.2221-2707_2221-2706insTCTCTTCCTGTGTGATGCTGGGGGGT CTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCCTGTGTGATGCTGGGGG GGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTCCTTCTATGTCTTACTG GGGGGGGCCTCTCCCTGTGTGATGCAGGCGGTGGCCTCTTCCTGTGTGAT GCTGGGGGGGGTCTCTTCCTGTGTGATGCTAGGGGGTCTCTTCCTGTGTG ATGCTGGGTGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44134467	T T	TATAAATA others(231): Show TATAAATATATATTTATTATAAATATATATAAATATATATTTATTATATA TATATATAATATATATAATATATATTTATTAATATATAATAAATATATAT TTATAATATATATAAATAAATATATATTTATAATAAATAAATATAAATAT ATATTTATTTATATAAATAAATATATATTTATTTATATAAATAAATATAT ATTTATTATATATAAATAAATATATATTTATTTATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19070.hp2 NA19074.hp2 HG00544.hp2 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0062 a0001c0011t0014 a0001c0001t0001 a0001c0001t0062 a0001c0011t0014	a0001c0001t0001g0242 a0001c0001t0062g0110 a0001c0011t0014g0199 a0001c0001t0001g0242 a0001c0001t0062g0110 a0001c0011t0014g0199	3	338	0.0089	238	c.117 others(259): Show c.1170-15845_1170-15844insTTATATAAATAAATATATATTTAT TTATATATAATAAATATATATTTATTTATATAAATAAATATATATTTATT TATATAAATAAATATATATTTATATTTATTTATTATAAATATATATTTAT TTATATATATTATAAATATATATTTATTATATATTAATAAATATATATTA TATATATTATATATATATATAATAAATATATATTTATATATATTTATAAT AAATATATATTTAT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124109878	A A	ACTTTGAT others(231): Show ACTTTGATATATATATGACATATATGTCATGCTTTGATATATATGACATA TATGTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATAT ATATGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGC TTTGATATATATATGACATATATGTCATGCTTTGATATATATATGACATA TATGTCATGCTTTGATATATATATGACATATATGTCATG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0004 a0002c0053t0004	a0002c0053t0004g0094 a0002c0053t0004g0094	1	116	0.0086	238	c.73+ others(255): Show c.73+76089_73+76090insGTCATGCTTTGATATATATGACATATAT GTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATATATA TGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGCTTT GATATATATATGACATATATGTCATGCTTTGATATATATATGACATATAT GTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATATATA TGACATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124109971	G G	GATATATA others(231): Show GATATATATATGACATATATGTCATACTTTGATATATATGACATATATGT CATACTTTGATATATATATGACATATATGTCATACTTTGATATATATATG ACATATATGTCATACTTTGATATATATGACATATATGTCATACTTTGATA TATATATGACATATATGTCATACTTTGATATATATATGACATATATGTCA TACTTTGATATATATATGACATATATGTCATACTTTGAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp2 HG02559.hp2 HG02723.hp2	a0001 a0007 a0001 a0007	a0001c0059 a0007c0052 a0001c0059 a0007c0052	a0001c0059t0014 a0007c0052t0008 a0001c0059t0014 a0007c0052t0008	a0001c0059t0014g0076 a0007c0052t0008g0075 a0001c0059t0014g0076 a0007c0052t0008g0075	2	116	0.0172	238	c.73+ others(255): Show c.73+76166_73+76167insATGACATATATGTCATACTTTGATATAT ATGACATATATGTCATACTTTGATATATATATGACATATATGTCATACTT TGATATATATATGACATATATGTCATACTTTGATATATATGACATATATG TCATACTTTGATATATATATGACATATATGTCATACTTTGATATATATAT GACATATATGTCATACTTTGATATATATATGACATATATGTCATACTTTG ATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124110267	T T	TATATATA others(231): Show TATATATATGACATATATGTCATACTTTGATATATATATGACATATATGT CATACTTTGATATATATATGACATATATGTCATACTTTGATATATATATG ACATATATGTCATACTTTGATATATATATGACATATATGTCATACTTTGA TATATATATGACATATATGTCATACTTTGATATATATATGACATATATGT CATACTTTGATATATATATGACATATATGTCATACTTTG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0069 a0001c0006t0001g0069	1	116	0.0086	238	c.73+ others(255): Show c.73+76531_73+76532insGTCATACTTTGATATATATATGACATAT ATGTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATA TATGACATATATGTCATACTTTGATATATATATGACATATATGTCATACT TTGATATATATATGACATATATGTCATACTTTGATATATATGACATATAT GTCATACTTTGATATATATATGACATATATGTCATACTTTGATATATATA TGACATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNQ2_chr20_63395208_63477655	63456068	T T	TCACGGGC others(231): Show TCACGGGCCCCCCACCTCCGGGAGACCCCTCTGCCCACGGGCCCCCCACC TCCGGGAGGCCCCTCTGCCCACGGGCCCCCCACCTCCGGGAGACCCCTCT GCCCACGGGCCCCCCACCTCCGGGAGACCCCTCTGCCCACGGGCCCCCCA CCTCCGGGAGGCCCCTCTGCCCACGGGCCCCCCACCTCCGGGAGACCCCT CTGCCCACGGGCCCCCCACCTCCGGGAGACCCCTCTGCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0240 a0001c0002t0074g0240	1	330	0.0030	238	c.297 others(255): Show c.297-9232_297-9231insGGCAGAGGGGTCTCCCGGAGGTGGGGGG CCCGTGGGCAGAGGGGTCTCCCGGAGGTGGGGGGCCCGTGGGCAGAGGGG CCTCCCGGAGGTGGGGGGCCCGTGGGCAGAGGGGTCTCCCGGAGGTGGGG GGCCCGTGGGCAGAGGGGTCTCCCGGAGGTGGGGGGCCCGTGGGCAGAGG GGCCTCCCGGAGGTGGGGGGCCCGTGGGCAGAGGGGTCTCCCGGAGGTGG GGGGCCCGTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	1/16			chr20	TogoVar
KDM4B_chr19_4964113_5158598	5131645	G G	GGGCAGGG others(231): Show GGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTG GAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGG AGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	270	0.0037	238	c.178 others(255): Show c.1785+115_1785+116insGGCAGGTGGGGTGGAGCGGGGGAGGCAG GGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGG CACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGT GGGGTGGAGCGGGGGAGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAG GGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGCAG GGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KHDRBS3_chr8_135452456_135652610	135599908	A A	AGCAGCAG others(231): Show AGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGC ACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCAC CAGGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGGCAG GCACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGC ACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp2 HG02976.hp1 HG03130.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0010 a0004c0005t0002 a0001c0001t0010 a0004c0005t0002	a0001c0001t0010g0319 a0004c0005t0002g0188 a0001c0001t0010g0319 a0004c0005t0002g0188	2	342	0.0059	238	c.808 others(255): Show c.808-6891_808-6890insCCTCACAGCACCAGGCAGCAGTGGCAGG CACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCA CCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGGCA GGCACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAG CACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGG CAGGCACCTC	KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
KIAA0930_chr22_45187244_45245894	45229317	A A	ACCCCCCA others(231): Show ACCCCCCAACCACCACTCACTTGAGAGATCCCTCTCCACCCCCGCCATCA CCACTCACCTGAAAGATCCCTCTCCACATCCCCACCACCACTCACCTGAA AGATCCCTCTCCACCCCCCCACCACTAAACACTCACCCGAAAGATCCCTC TCCATGCCCCCCCACCACCAAACACTCACCTGAAAGATCCCTCTCCACCC CCCCACCACCAAACACTCACCTGAAAGATCCCTCTCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	398	0.0025	238	c.64+ others(255): Show c.64+11322_64+11323insGTGGAGAGGGATCTTTCAGGTGAGTGTT TGGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTGGTGG GGGGGCATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTG GAGAGGGATCTTTCAGGTGAGTGGTGGTGGGGATGTGGAGAGGGATCTTT CAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAAGTGAGTGGT GGTTGGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF1A_chr2_240708767_240825219	240780868	C C	CCACACAC others(231): Show CCACACACACACACACACACAGCTCCACACACACACACACACACACACAG CTCCACACACACACACACACACAGCTCCACACACACACACAGCTCCACAC ACACACACACACACAGCTCCACACACACACACACACACACACACAGCTCC ACACACACACACACACACAGCTCCACACACACACACACACACACACACAG CTCCACACACACACACACACACACACAGCTCCACACACA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0129 a0002c0010t0001g0129	1	330	0.0030	238	c.882 others(255): Show c.882+1721_882+1722insTGTGTGTGGAGCTGTGTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(231): Show CGGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACG GCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGG GAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGG GAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGCGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0138 a0004c0005t0004g0138	1	375	0.0027	238	c.317 others(255): Show c.317+1438_317+1439insGGCGGGAACGGCGCTGCGGGGCGGGGGG GCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGG GGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGGCGGGAACGGCGCTGC GGGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	886545	A A	ATTCCCCA others(231): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTC CCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCG GCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCC TCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCC CGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCG	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp2 HG04228.hp2 others(1): Show HG03704.hp1 HG03704.hp2 HG04228.hp2 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0045 a0001c0001 a0008c0045	a0001c0001t0001 a0008c0045t0003 a0001c0001t0001 a0008c0045t0003	a0001c0001t0001g0151 a0001c0001t0001g0228 a0001c0001t0001g0249 others(1): Show a0001c0001t0001g0151 a0001c0001t0001g0228 a0001c0001t0001g0249 a0008c0045t0003g0072	4	294	0.0136	238	c.729 others(255): Show c.729+6224_729+6461dupCGCCGGGGGCCTAGGGTGGGAGGGGCCT GGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGC CTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGC CTGGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGG GCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGCCTAGGGTGGGAGGG GCCTGGGGAA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10			chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(231): Show CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	414	0.0024	238	c.171 others(255): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(231): Show CCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	414	0.0024	238	c.171 others(255): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(231): Show ATATATATATATCATATATATAATATATATTATATTATATATATATCATA TATATAATATATATTATATTATATATATATCATATATATAATATATATTA TATTATATATATATCATATATATAATATATATTATATTATATATATATCA TATATATAATATATATTATATTATATATATATCATATATATAATATATAT TATATTATATATATATCATATATATAATATATATTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02970.hp2 HG03239.hp2 others(1): Show HG01884.hp1 HG02970.hp2 HG03239.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	313	0.0128	238	c.-30 others(249): Show c.-3011_-3010insATATAATATATATTATATATATGATATATATATA ATATAATATATATTATATATATGATATATATATAATATAATATATATTAT ATATATGATATATATATAATATAATATATATTATATATATGATATATATA TAATATAATATATATTATATATATGATATATATATAATATAATATATATT ATATATATGATATATATATAATATAATATATATTATATATATGATATATA TATA	LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding		2982		chrX	TogoVar
LOC400499_chr16_11367015_11532247	11494117	G G	GGGGGCGG others(231): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTG GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03098.hp2 NA19030.hp2 HG01496.hp2 HG03098.hp2 NA19030.hp2	a0031 a0205 a0208 a0031 a0205 a0208	a0031c0021 a0205c0189 a0208c0187 a0031c0021 a0205c0189 a0208c0187	a0031c0021t0001 a0205c0189t0010 a0208c0187t0002 a0031c0021t0001 a0205c0189t0010 a0208c0187t0002	a0031c0021t0001g0033 a0205c0189t0010g0046 a0208c0187t0002g0051 a0031c0021t0001g0033 a0205c0189t0010g0046 a0208c0187t0002g0051	3	310	0.0097	238	c.143 others(255): Show c.1432-322_1432-321insACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(231): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGG GATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGA GCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18948.hp1 NA18979.hp1 others(1): Show HG02976.hp2 NA18948.hp1 NA18979.hp1 NA20300.hp1	a0001 a0007 a0017 a0001 a0007 a0017	a0001c0003 a0007c0011 a0017c0027 a0001c0003 a0007c0011 a0017c0027	a0001c0003t0003 a0007c0011t0003 a0017c0027t0003 a0001c0003t0003 a0007c0011t0003 a0017c0027t0003	a0001c0003t0003g0133 a0007c0011t0003g0117 a0007c0011t0003g0119 others(1): Show a0001c0003t0003g0133 a0007c0011t0003g0117 a0007c0011t0003g0119 a0017c0027t0003g0113	4	220	0.0182	238	c.133 others(255): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGT TGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTT CTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTA GTTGAGCGGT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L_chr16_183990_234449	186306	G G	GGAGGAAC others(231): Show GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	350	0.0029	238	c.28 others(249): Show c.2891_*2892insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCG TGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2683		chr16	TogoVar
LUC7L_chr16_183990_234449	187054	G G	GGAGGAAC others(231): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	350	0.0029	238	c.21 others(249): Show c.2143_*2144insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1935		chr16	TogoVar
LUC7L_chr16_183990_234449	187122	G G	GGGAACAG others(231): Show GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	350	0.0029	238	c.20 others(249): Show c.2075_*2076insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1867		chr16	TogoVar
LUC7L_chr16_183990_234449	187190	G G	GGAGGAAC others(231): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGTC ACGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAA CAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGA GGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA18973.hp2 HG02135.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0159 a0001c0001t0001g0161	2	350	0.0057	238	c.20 others(249): Show c.2007_*2008insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1799		chr16	TogoVar
LYPD8_chr1_248734415_248760759	248740729	A A	AATTTGAG others(231): Show AATTTGAGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCCACAA TTTGAGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCCGCAATT TGAGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCTGCAATTTG AGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCCACAATTTGAG TTCAAGGCTGGCTCTAGGACCAGGCATGAAGCAGGACTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 NA19030.hp1 others(1): Show HG02717.hp1 HG02970.hp2 NA19030.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0271 others(1): Show a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272	4	374	0.0107	238	c.476 others(253): Show c.476-881_476-880insCAGTCCTGCTTCATGCCTGGTCCTAGAGCC AGCCTTGAACTCAAATTGTGGCCCTGCTTCATGCCTGGTCCTAGAGCCGG CCTTGAACTCAAATTGCAGCCCTGCTTCATGCCTGGTCCTAGAGCCGGCC TTGAACTCAAATTGCGGCCCTGCTTCATGCCTGGTCCTAGAGCCGGCCTT GAACTCAAATTGTGGCCCTGCTTCATGCCTGGTCCTAGAGCCGGCCTTGA ACTCAAAT	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248740729	A A	AATTTGAG others(231): Show AATTTGAGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCCACAA TTTGAGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCCGCAATT TGAGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCTGCAATTTG AGTTCAAGGCCGGCTCTAGGACCAGGCATGAAGCAGGGCCACAATTTGAG TTCAAGGCTGGCTCTAGGACCAGGCATGAAGCAGGGCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02258.hp1 others(18): Show HG00735.hp1 HG01884.hp2 HG02258.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03486.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0006 a0002c0002t0003 a0001c0001t0003 a0001c0001t0006 a0002c0002t0003	a0001c0001t0003g0092 a0001c0001t0006g0047 a0001c0001t0006g0048 others(11): Show a0001c0001t0003g0092 a0001c0001t0006g0047 a0001c0001t0006g0048 a0002c0002t0003g0008 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0093 a0002c0002t0003g0121 a0002c0002t0003g0123 a0002c0002t0003g0125 a0002c0002t0003g0131 a0002c0002t0003g0138	21	374	0.0562	238	c.476 others(253): Show c.476-881_476-880insCAGCCCTGCTTCATGCCTGGTCCTAGAGCC AGCCTTGAACTCAAATTGTGGCCCTGCTTCATGCCTGGTCCTAGAGCCGG CCTTGAACTCAAATTGCAGCCCTGCTTCATGCCTGGTCCTAGAGCCGGCC TTGAACTCAAATTGCGGCCCTGCTTCATGCCTGGTCCTAGAGCCGGCCTT GAACTCAAATTGTGGCCCTGCTTCATGCCTGGTCCTAGAGCCGGCCTTGA ACTCAAAT	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(231): Show GGGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGA GAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGGG CGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGGG CTCAGGAGAGGGGAGGGGGGCTCAGTAGAGTGGGGGGGGCTCAGGAGAGA GGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0096 a0004c0003t0001g0096	1	364	0.0028	238	c.52+ others(251): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG AGAGGGGAGGGGGCGCGGGAGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGGAGGGGACGCGGGAGAGAGGAGGGAGTTAGGAGGGG GCTCAGGAGAGGGGAGGGGGGCTCAGTAGAGTGGGGGGGGCTCAGGAGAG AGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAGG AGAGAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MADCAM1_chr19_491486_510343	496853	G G	GGGGGCGC others(231): Show GGGGGCGCAGGAGAGAGCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGGA GAGGGGAGGGGGCGCGGGAGGAGGGGAGGGGGCTCGGGGGAGAGGAAGGG GCGCGGTGAGCGGGGAGGGGGACGCGGGAGAGAGAAGGGAGTTAGGAGGG GGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAGA GGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0258 a0001c0012t0001g0258	1	364	0.0028	238	c.52+ others(251): Show c.52+318_52+319insCAGGGGGCGCAGGAGAGAGGAGGGGGCGCGGG AGAGGGGAGGGGGCGCGGGAGGAGGGGAGGGGGCTCGGGGGAGAGGAAGG GGCGCGGTGAGCGGGGAGGGGGACGCGGGAGAGAGAAGGGAGTTAGGAGG GGGCTCAGGAGAGGGGAGGGGGCTCAGTAGAGTGGGGGGGCTCAGGAGAG AGGAGGGACGCAGGAGAGAGGAGGGGCGCAGGGGAGAGGAGGGGCGCAGG AGAGAG	MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(231): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGG AGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	163	0.0061	238	c.525 others(255): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCTCTCCCCCCTCC CCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCC CCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7062203	T T	TTATATTA others(231): Show TTATATTATAGATCATAATCTATAATATAATTATATATAATATATTATAA TATATAATTATATTCTATATATAATTATATATAATATAATTATATTCTAT ATATAATATAATTATATATAATACAATTATATTCTATATACAATATAAAA TATAATTATAATATATAATATAATTATAATATATAATATAATTATATATT ATATACTTATAGATAATATATAATAATATAATTATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01109.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0017	2	288	0.0069	238	c.-35 others(249): Show c.-3599_-3598insTTATATAATTATATTATTATATATTATCTATAAG TATATAATATATAATTATATTATATATTATAATTATATTATATATTATAA TTATATTTTATATTGTATATAGAATATAATTGTATTATATATAATTATAT TATATATAGAATATAATTATATTATATATAATTATATATAGAATATAATT ATATATTATAATATATTATATATAATTATATTATAGATTATGATCTATAA TATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3528		chr19	TogoVar
MCC_chr5_113017106_113493453	113333836	T T	TACATATA others(231): Show TACATATATACATATATGTACATATATGTATATATGTACATATATGTATA TATGTATATATGTACATATGTACATATATACATATATGTACATATATGTA CATATGTATATATGTACATATATGTATATATGTATATATGTACATATATG TATATATGTACATATATATGTACATATGTACATATATGTATATATGTATA TATGTACATATGTACATATATGTATATATGTACATATGC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0035 a0003c0035	a0003c0035t0001 a0003c0035t0001	a0003c0035t0001g0001 a0003c0035t0001g0001	1	160	0.0063	238	c.627 others(255): Show c.627+6682_627+6683insGCATATGTACATATATACATATATGTAC ATATGTACATATATACATATATACATATATGTACATATGTACATATATAT GTACATATATACATATATGTACATATATACATATATACATATATGTACAT ATATACATATGTACATATATGTACATATATGTATATATGTACATATGTAC ATATATACATATATACATATATGTACATATATACATATATGTACATATAT GTATATATGT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MCC_chr5_113017106_113493453	113333856	T T	TATATGTA others(231): Show TATATGTATATATGTACATATGTATATATGTACATATGTACATATATACA TATATGTACATATATGTACATATCTATATATGTACATATATGTACATATA TGTATATATGTACATATATGTATATATGTACATATATGTACATATGTACA TATATGTATATATGTACGTATATATGTACATATGTACATATATGTATATA TGTATATATGCACATATGTACATATATGTACATATGTAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01258.hp1 others(4): Show HG00323.hp1 HG00639.hp2 HG01258.hp1 NA18947.hp2 NA19001.hp1 NA20752.hp2 NA20805.hp1	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0001 a0003c0006 a0003c0034 others(2): Show a0002c0001 a0003c0006 a0003c0034 a0003c0038 a0006c0059	a0002c0001t0004 a0003c0006t0001 a0003c0006t0002 others(3): Show a0002c0001t0004 a0003c0006t0001 a0003c0006t0002 a0003c0034t0002 a0003c0038t0005 a0006c0059t0001	a0002c0001t0004g0157 a0002c0001t0004g0158 a0003c0006t0001g0011 others(4): Show a0002c0001t0004g0157 a0002c0001t0004g0158 a0003c0006t0001g0011 a0003c0006t0002g0013 a0003c0034t0002g0012 a0003c0038t0005g0014 a0006c0059t0001g0160	7	160	0.0438	238	c.627 others(255): Show c.627+6662_627+6663insGTACATATGTACATATATGTACATATGT GCATATATACATATATACATATATGTACATATGTACATATATACGTACAT ATATACATATATGTACATATGTACATATATGTACATATATACATATATGT ACATATATACATATATGTACATATATGTACATATATAGATATGTACATAT ATGTACATATATGTATATATGTACATATGTACATATATACATATGTACAT ATATACATAT	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	3/18			chr5	TogoVar
MED15_chr22_20502610_20592619	20503359	T T	TACATTTG others(231): Show TACATTTGGTTGTATATAGATTTACCCATGATGTAATTCTATAATCAAAA TTATAATTAAATTTTAATGAAAATTTTAGTTAATAATAAATTAATACTTA TGAAAATGCTTAGGCACTAACATTAGATTTACAACACAGGATCCAAATGG CATCTACGGCATGATCCATTACATTTTTTTTGTTGTTTTTTGTTTTTTTT TTTTTTGAGACAGAGTCTCACTCTGTTGCCCATGCTTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	341	0.0029	238	c.-43 others(249): Show c.-4320_-4319insACATTTGGTTGTATATAGATTTACCCATGATGTA ATTCTATAATCAAAATTATAATTAAATTTTAATGAAAATTTTAGTTAATA ATAAATTAATACTTATGAAAATGCTTAGGCACTAACATTAGATTTACAAC ACAGGATCCAAATGGCATCTACGGCATGATCCATTACATTTTTTTTGTTG TTTTTTGTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCATGC TTGA	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding		4250		chr22	TogoVar
METRNL_chr17_83074609_83100122	83090164	C C	CCACACAC others(231): Show CCACACACACACCCCCCACCCCCCGCCCCAGGGTGGGAACCACACACCCC CGCCCTGCCCCAGGGTGGGAGCCACACACACACCCCCCACCCCCCGCCCC AGGGTGGGAGCCACACACACACACCCCCCCACACACACACCCCGCCCCAC ACACACACCCCCCCGCCCCACACACACACACCCCGCCCCACACACACACC CCCCGCCCCACACACACACACACACCCCCGCCCCACACA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	399	0.0025	238	c.557 others(255): Show c.557-2996_557-2995insACACCCCCCACCCCCCGCCCCAGGGTGG GAACCACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACCCC CCACCCCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCCACACAC ACACCCCGCCCCACACACACACCCCCCCGCCCCACACACACACACCCCGC CCCACACACACACCCCCCGCCCCACACACACACACACACCCCCGCCCCAC ACACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICALL2_chr7_1429359_1464470	1446353	G G	GGAGTGAG others(231): Show GGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCGGAGCAGT AGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGG GGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAG TGAAGAGGGAGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGA AAAGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	280	0.0036	238	c.641 others(253): Show c.641+359_641+360insTTCACTCTTCTCTCCCTACTGCTCCGCCTC CTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCT CCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCC CCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCT TCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTC TCTCACTC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MIER2_chr19_300573_349796	300588	T T	TGGCCGTG others(231): Show TGGCCGTGACACCAGTGACAGTGACTGTGGGACACCCAGGGCCGTGACAC CAGTGACTGGAGACTGTGGGACACCCAGGGCTGTGACACCAGTGACTGGA AAGACTGTGGGTCACCCATGGCCGTGACACCAGTGACTGGAGAGACTGTG GGTCACCCATGGCCGTGACATCAGTGACTGGAGAGACTGTGGGTCACCCA TGGCCGTGACACCAGTGACAGTGACTGTGGGACACCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03579.hp2 HG03139.hp1 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0115 a0002c0004t0003g0118 a0002c0004t0003g0115 a0002c0004t0003g0118	2	384	0.0052	238	c.61 others(249): Show c.6101_*6102insCTGGGTGTCCCACAGTCACTGTCACTGGTGTCAC GGCCATGGGTGACCCACAGTCTCTCCAGTCACTGATGTCACGGCCATGGG TGACCCACAGTCTCTCCAGTCACTGGTGTCACGGCCATGGGTGACCCACA GTCTTTCCAGTCACTGGTGTCACAGCCCTGGGTGTCCCACAGTCTCCAGT CACTGGTGTCACGGCCCTGGGTGTCCCACAGTCACTGTCACTGGTGTCAC GGCC	MIER2	ENSG00000105556.12	transcript	ENST00000264819.7	protein_coding		4984		chr19	TogoVar
NEU4_chr2_241804193_241822413	241805214	T T	TCCCTCCC others(231): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCTCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	319	0.0031	238	c.-40 others(249): Show c.-4064_-4063insCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCC TCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3978		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805782	A A	ACCTTCCC others(231): Show ACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCGGCAGGCCACCC TCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	319	0.0031	238	c.-34 others(249): Show c.-3496_-3495insCCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCT TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGAC CTCGGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3410		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806765	C C	CTCCCCCC others(231): Show CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	319	0.0031	238	c.-25 others(249): Show c.-2513_-2512insTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCC TCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2427		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808083	A A	ACCCTCCC others(231): Show ACCCTCCCTCCTCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCC CTCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0068 a0001c0004t0001g0068	1	319	0.0031	238	c.-11 others(249): Show c.-1195_-1194insCCCTCCCTCCTCCCTCAGCCCAGGGACGTCTGCA GGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCGGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCA CCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1109		chr2	TogoVar
NFATC2_chr20_51381963_51547719	51500819	C C	CCACCCCC others(231): Show CCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCACC CCACCCTCACCTTCACCCCACCCCCACCCTCACCCCCACCCCACCCTCAC CCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACC CTCACCCTCACCCCACCCTCACCCTCACCCCACCCTCACCCTCACCCCCA CCCCACCCCCACCCTCACCCTCACCCCCATCCTCACCCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01943.hp2 others(24): Show HG00099.hp1 HG01106.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02257.hp2 HG02293.hp2 HG02300.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 NA18939.hp2 NA18951.hp2 NA18954.hp2 NA18961.hp1 NA18993.hp2 NA19000.hp2 NA19056.hp1 NA19056.hp2 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0027 a0001c0002t0036	a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0096 others(24): Show a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0120 a0001c0001t0001g0224 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0004g0076 a0001c0001t0004g0088 a0001c0001t0005g0101 a0001c0001t0006g0091 a0001c0001t0006g0106 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0002g0097 a0001c0002t0003g0085 a0001c0002t0003g0087 a0001c0002t0003g0092 a0001c0002t0003g0119 a0001c0002t0004g0086 a0001c0002t0004g0089 a0001c0002t0005g0094 a0001c0002t0027g0308 a0001c0002t0036g0083	27	316	0.0854	238	c.133 others(259): Show c.1332+15964_1332+15965insAGGGTGAGGATGGGGGTGAGGGTG AGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGG GTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGGG TGAAGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGG GGTGGTGGGGGGTG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAT others(231): Show ATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTGTAT ATATATACAGTATGTATACTGTATATATATACAGTATGTATACTGTATAT ATATACAGTATGTATACTGTATATATATACAGTATGTATACTGTATATAT ATACAGTATGTATACTGTATATATATACAGTATGTATACTGTATATATAT ACAGTATGTATACTGTATATATATACAGTATGTATACTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0116 a0001c0002t0009g0116	1	362	0.0028	238	c.-75 others(257): Show c.-75+17495_-75+17496insCAGTATACATACTGTATATATATACA GTATACATACTGTATATATATACAGTATACATACTGTATATATATACAGT ATACATACTGTATATATATACAGTATACATACTGTATATATATACAGTAT ACATACTGTATATATATACAGTATACATACTGTATATATATACAGTATAC ATACTGTATATATATACAGTATACATACTGTATATATATACAGTATACAT ACTGTATATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NINJ2_chr12_559296_668445	577425	A A	ATACATAT others(231): Show ATACATATATATATGTATATATATATATACATATATATATGTATATATAT ATATACATATATATATGTATATATATATACATATATATATGTATATATAT ATACATATATATATGTATATATATATACACATATATATATGTATATATAT ATACATATATATATGTATATATATATACATATATATATGTATATATATAT ATACATATATATGTATATATATATACATATATATATGTG	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18983.hp1 NA18961.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	404	0.0050	238	c.34- others(255): Show c.34-11248_34-11247insCACATATATATATGTATATATATATACA TATATATGTATATATATATATACATATATATATGTATATATATATACATA TATATATGTATATATATATACATATATATATGTGTATATATATATACATA TATATATGTATATATATATACATATATATATGTATATATATATACATATA TATATGTATATATATATATACATATATATATGTATATATATATATACATA TATATATGTA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	577425	A A	ATACATAT others(231): Show ATACATATATATATGTATATATATATATACATATATATATGTATATATAT ATATACATATATATATGTATATATATATACATATATATATGTATATATAT ATACATATATATATGTATATATATATATACATATATATATGTATATATAT ATACATATATATATGTATATATATATACATATATATATGTATATATATAT ATACATATATATGTATATATATATACATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03942.hp1 HG00423.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0171 a0001c0001t0001g0004 a0001c0001t0001g0171	2	404	0.0050	238	c.34- others(255): Show c.34-11248_34-11247insCACATATATATATGTATATATATATACA TATATATGTATATATATATATACATATATATATGTATATATATATACATA TATATATGTATATATATATACATATATATATGTATATATATATATACATA TATATATGTATATATATATACATATATATATGTATATATATATACATATA TATATGTATATATATATATACATATATATATGTATATATATATATACATA TATATATGTA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	577425	A A	ATACATAT others(231): Show ATACATATATATATGTATATATATATATACATATATATATGTATATATAT ATATATACATATATATATGTATATATATATACATATATATATGTATATAT ATATACATATATATATGTATATATATATATACATATATATATGTATATAT ATATACATATATATGTATATATATATACATATATATATGTATATATATAT ATACATATATATGTATATATATATACATATATATATGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	404	0.0025	238	c.34- others(255): Show c.34-11248_34-11247insCACATATATATATGTATATATATATACA TATATATGTATATATATATATACATATATATATGTATATATATATACATA TATATGTATATATATATACATATATATATGTATATATATATATACATATA TATATGTATATATATATACATATATATATGTATATATATATACATATATA TATGTATATATATATATATACATATATATATGTATATATATATATACATA TATATATGTA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar

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