Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FBLN1_chr22_45497883_45606135	45568809	G G	GGGGAATG others(210): Show GGGGAATGCTCCTTCTGTAGGAGAATGCTCCTGTAGGGGAATGCTCCTTC TGTAGGGGAGTGCTCCTTCTGTAGGGGAATGCCTCTTCTGTAGGGCATGC TCCTTCTGTAGGAGAATGCTCCTGTAGGGGAGTGCTCCTTCTGTAGGGGA GTGCTCCTTCTGTAGGGGAATGCCTCTTCTGTAGGGCATGCTCCTTCTGT AGGAGAATGCTCCTGTAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02818.hp1 others(1): Show HG02572.hp1 HG02717.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 a0001c0024t0001g0191	4	346	0.0116	217	c.169 others(236): Show c.1698-5690_1698-5689insTCTGTAGGAGAATGCTCCTGTAGGGG AATGCTCCTTCTGTAGGGGAGTGCTCCTTCTGTAGGGGAATGCCTCTTCT GTAGGGCATGCTCCTTCTGTAGGAGAATGCTCCTGTAGGGGAGTGCTCCT TCTGTAGGGGAGTGCTCCTTCTGTAGGGGAATGCCTCTTCTGTAGGGCAT GCTCCTTCTGTAGGAGAATGCTCCTGTAAGGGAATGCTCCT		FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding	14/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
GABRB3_chr15_26538552_26778066	26716783	G G	GACAGCCC others(210): Show GACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCT GAGGACCTCCACCCAACC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	204	0.0049	217	c.240 others(236): Show c.240+55618_240+55619insGGTTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716953	A A	AGGACCTC others(210): Show AGGACCTCCACCCAACCACAGCCTAGCTCTGGGGACCTCCACCCAACCAC AGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCT CCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAG CTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCA ATGACAGCCCAGCTCTGG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0059 a0001c0001t0012g0059	1	204	0.0049	217	c.240 others(236): Show c.240+55448_240+55449insCCAGAGCTGGGCTGTCATTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGG GTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCC		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(210): Show CCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCAC CTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCAC TGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCC TCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCT GCAGTCCGCACTGCCCCG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	390	0.0026	217	c.145 others(234): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTG CAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GALNS_chr16_88808734_88861947	88831495	A A	AGGAGAGC others(210): Show AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGGAGGAGAGCGGTGAGGCCGAGCACGGGG TGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAG AGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGA GCACGGGGTGCGTGGGGG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	404	0.0025	217	c.100 others(234): Show c.1002+502_1002+503insCCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCA CGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTC GGCCTCACCGCTCTCCTCCCCCACGCACCCCGTGCTCGGCCTCACCGCTC TCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88831511	C C	CGAGCACG others(210): Show CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAG CGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGC ACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAGCACGGGGTGCGTGGG GAGGAGAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0158 a0002c0010t0001g0158	1	404	0.0025	217	c.100 others(234): Show c.1002+486_1002+487insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCCGCCTCACCGCTGTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCCACGCACCCCGTG CTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13						chr16	TogoVar
GLT1D1_chr12_128848478_128989968	128879376	C C	CTCTTTCT others(210): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	320	0.0031	217	c.217 others(234): Show c.217+3315_217+3316insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GMDS_chr6_1618806_2250605	1898047	T T	TCCCTTGC others(210): Show TCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACA CCTATCCTGGCCACCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTG CCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTACCC TGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCT GGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0133 a0001c0002t0001g0133	1	166	0.0060	217	c.771 others(236): Show c.771+32055_771+32056insTGGCCAGGATAGGTGTCCAGGATGGC AAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGT GTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGAG GCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGG ATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGG		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GMDS_chr6_1618806_2250605	1898101	T T	TCCTGGCC others(210): Show TCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCAT CCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGC CTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGAC ACCTATCCTGGCCACCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTT GCCATCCTGGACACCTAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	166	0.0060	217	c.771 others(236): Show c.771+32001_771+32002insGTAGGTGTCCAGGATGGCAAGGGAGG CCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGA TGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGAT AGGTGTCCAGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAG GGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGG		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GNG13_chr16_793041_805734	795489	C C	CGCCCCCC others(210): Show CGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCC CCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAAC CACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCACACTGCCCGTGT GGCTGCCCCCGGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0028 a0001c0001t0011g0028	1	422	0.0024	217	c.32 others(228): Show c.3229_*3230insACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCA CGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGG CCGGGGGCAGCCACACGGGCAGCACAGGGGGGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2551		chr16	TogoVar
GPR137B_chr1_236137539_236213907	236186262	T T	TTATATAT others(210): Show TTATATATAATAATATAAATAATATATAATATATATTATATATAATAATA TAAATAATATATAATATATATTATATATAATAATATAAATAATATATAAT ATATATTATATATAATAATATAAATAATATATAATATATATTATATATAA TAATATAAATAATATATAATATATATTATATATAATAATATAAATAATAT ATAATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00597.hp1 others(55): Show HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02129.hp1 HG02145.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03490.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19055.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0065 others(55): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0229 a0001c0001t0001g0310 a0001c0001t0001g0326 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0351 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0250 a0001c0001t0003g0252 a0001c0001t0007g0295 a0001c0001t0010g0242	58	386	0.1503	217	c.966 others(234): Show c.966+2363_966+2364insAATAATATAAATAATATATAATATATAT TATATATAATAATATAAATAATATATAATATATATTATATATAATAATAT AAATAATATATAATATATATTATATATAATAATATAAATAATATATAATA TATATTATATATAATAATATAAATAATATATAATATATATTATATATAAT AATATAAATAATATATAATATATTATATATAATATATAT		GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR157_chr1_9095305_9134102	9116281	A A	AATTATAT others(210): Show AATTATATTATATATATTATATTATATATAATTATATATAATTATATTAT ATATTATATGTAATATAAATATATATAATTATATTATATATATTATATGT AATATAATTATATATATTTATATTATATATTATATATAATATAATTATAT ATATAATTATAATATATATTATATATAATATAATTATATATATAATTTAT ATATATTATATATAATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(52): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02080.hp1 HG02132.hp2 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02602.hp2 HG02735.hp1 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp1 NA18612.hp2 NA18941.hp1 NA18948.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA18999.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19077.hp2 NA19083.hp1 NA19089.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0002c0002 a0006c0017 others(1): Show a0001c0001 a0002c0002 a0006c0017 a0010c0016	a0001c0001t0006 a0001c0001t0032 a0001c0001t0039 others(18): Show a0001c0001t0006 a0001c0001t0032 a0001c0001t0039 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0020 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041 a0002c0002t0086 a0002c0002t0090 a0002c0002t0093 a0002c0002t0094 a0002c0002t0096 a0002c0002t0099 a0002c0002t0100 a0002c0002t0103 a0002c0002t0107 a0006c0017t0012 a0010c0016t0002	a0001c0001t0006g0136 a0001c0001t0032g0167 a0001c0001t0039g0200 others(47): Show a0001c0001t0006g0136 a0001c0001t0032g0167 a0001c0001t0039g0200 a0002c0002t0001g0174 a0002c0002t0002g0002 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0047 a0002c0002t0002g0073 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0132 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0155 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0172 a0002c0002t0002g0175 a0002c0002t0002g0315 a0002c0002t0012g0131 a0002c0002t0012g0168 a0002c0002t0012g0187 a0002c0002t0012g0188 a0002c0002t0020g0128 a0002c0002t0020g0138 a0002c0002t0020g0151 a0002c0002t0039g0156 a0002c0002t0040g0011 a0002c0002t0041g0154 a0002c0002t0086g0199 a0002c0002t0090g0173 a0002c0002t0093g0170 a0002c0002t0094g0133 a0002c0002t0096g0146 a0002c0002t0099g0160 a0002c0002t0100g0163 a0002c0002t0103g0152 a0002c0002t0107g0153 a0006c0017t0012g0035 a0010c0016t0002g0150	55	404	0.1361	217	c.384 others(234): Show c.384-4793_384-4792insATATTATATATAATATATATAAATTATA TATATAATTATATTATATATAATATATATTATAATTATATATATAATTAT ATTATATATAATATATAATATAAATATATATAATTATATTACATATAATA TATATAATATAATTATATATATTTATATTACATATAATATATAATATAAT TATATATAATTATATATAATATAATATATATAATATAAT		GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3						chr1	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(210): Show ACACACATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATTATAT ATATATATATTATATATATTATATATATATATTATATATATATTATATAT ATATTATATATATATTATATATATATTATATATATATTATATATATAATA TATATATAATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0035 a0001c0011t0035	a0001c0011t0035g0025 a0001c0011t0035g0025	1	184	0.0054	217	c.912 others(236): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATAATATATATATATAATATATATAATATATATATATATAATA TATATATAATATATATATAATATATATATATAATATATATATAATATATA TATAATATATATATATAATATATATATAATATATATGTGTG		GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9						chr11	TogoVar
GSE1_chr16_85608322_85681200	85653191	C C	CCCCTCCG others(210): Show CCCCTCCGCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0051 a0001c0001t0058g0051	1	290	0.0035	217	c.427 others(234): Show c.427-1085_427-1084insCTCCGCCCCCCTCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCTC others(210): Show CCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCCCCCCCCTCCTCCCTCCCCCTCC TCCCTCCCCTCCCCCTCCTCCTCCTCTCCTCCCCCCTCCTCCTCCTCCCC CTCCTCCTCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0002 a0011c0019t0002	a0011c0019t0002g0249 a0011c0019t0002g0249	1	290	0.0035	217	c.427 others(234): Show c.427-1069_427-1068insTCCCCCCCTCCTCCCCCCTCCTCCTCCC CCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCCCCCCTCC TCCCTCCCCCTCCTCCCTCCCCTCCCCCTCCTCCTCCTCTCCTCCCCCCT CCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCTCC		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(210): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0049 a0001c0001t0007g0049	1	290	0.0035	217	c.427 others(234): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTC CTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCTCCTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GTF2H5_chr6_158163350_158204344	158169766	A A	ATATAATA others(210): Show ATATAATATATTGTATATTATATATTATATAATATATTGTATATTATATA TTATATAATATATAATATACAATATATTATATAATATATAATATACAATA TATTATATATTATATAATATATTGTATATTATATATTATATAATATATTG TATATTATATATTGTATATTATATAATATATTGTATATTATATATTGTAT ATTATATATAATATATTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18945.hp2 NA18963.hp1 others(1): Show HG03704.hp2 NA18945.hp2 NA18963.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0047 a0001c0001t0001 a0001c0001t0005 a0001c0001t0047	a0001c0001t0001g0135 a0001c0001t0005g0187 a0001c0001t0047g0140 others(1): Show a0001c0001t0001g0135 a0001c0001t0005g0187 a0001c0001t0047g0140 a0001c0001t0047g0141	4	384	0.0104	217	c.-34 others(232): Show c.-34-700_-34-699insATATATTGTATATTATATATTATATAATAT ATTGTATATTATATATTATATAATATATAATATACAATATATTATATAAT ATATAATATACAATATATTATATATTATATAATATATTGTATATTATATA TTATATAATATATTGTATATTATATATTGTATATTATATAATATATTGTA TATTATATATTGTATATTATATATAATATATTGTATA		GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr6	TogoVar
HIGD1C_chr12_50947544_50975607	50948866	G G	GGGGGGAG others(210): Show GGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGGA GGGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGG GAGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	380	0.0026	217	c.-39 others(228): Show c.-3913_-3912insGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGGAGGGGGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAG GGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGG GGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGA		HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding					3677		chr12	TogoVar
HMGN1_chr21_39337315_39354088	39337374	A A	ATATATAT others(210): Show ATATATATAATATATATATATATATATAATATATTATATATATTATATAT ATATTAATATAATATATTATATATAAATATATATATAATATATATATTAA TATATATATTATATATAATATATATATTATATATATAATATATATATTAA TATATATAATATATATAAATATATATATATTATATATATAATATATATAT TATATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	414	0.0024	217	c.57 others(228): Show c.5737_*5738insATATATATTATATATATAATATATATATTATATA TATAATATATATATATTTATATATATTATATATATTAATATATATATTAT ATATATAATATATATATTATATATAATATATATATTAATATATATATTAT ATATATATTTATATATAATATATTATATTAATATATATATAATATATATA ATATATTATATATATATATATATATTATATATA		HMGN1	ENSG00000205581.11	transcript	ENST00000380749.10	protein_coding					4940		chr21	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(210): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGC CTCCCCGCCTCCCCGCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	330	0.0030	217	c.124 others(232): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCCCCGCGC CGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC		HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33322832	A A	ATGGAATA others(210): Show ATGGAATATACATATGGAATACATATATGGAATATACATATGGAATACAT ATATATGGAATATACATATGGAATACATATATATGGAATATACATATGGA ATACATATATATGGAATATACATATGGAATACATATATATGGAATATACA TATGGAATACATATATATGGAATACATATATGGAATACATATATATATGG AATACATATATGGAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	323	0.0031	217	c.-22 others(228): Show c.-2224_-2223insTGGAATATACATATGGAATACATATATGGAATAT ACATATGGAATACATATATATGGAATATACATATGGAATACATATATATG GAATATACATATGGAATACATATATATGGAATATACATATGGAATACATA TATATGGAATATACATATGGAATACATATATATGGAATACATATATGGAA TACATATATATATGGAATACATATATGGAATAC		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2137		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322870	T T	TATGGAAT others(210): Show TATGGAATACACATATGGAATACATATATATGGAATACATATATGGAATA CATATATATGGAATACATATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATGTGGAATACATATATGGAATATATATATATG TGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG03490.hp2 HG01071.hp1 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0233 a0002c0002t0002g0001 a0002c0002t0002g0233	2	323	0.0062	217	c.-21 others(228): Show c.-2186_-2185insATGGAATACACATATGGAATACATATATATGGAA TACATATATGGAATACATATATATGGAATACATATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATGTGGAATACATATATG GAATATATATATATGTGGAATATATATATATGG		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2099		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322870	T T	TGGAATAC others(210): Show TGGAATACATATATATGGAATACATATATATGGAATACACATATGGAATA CATATATATGGAATACATATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATGTGGAATACATATATGGAATACATATATGTG GAATACATATATGGAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	323	0.0031	217	c.-21 others(228): Show c.-2186_-2185insGGAATACATATATATGGAATACATATATATGGAA TACACATATGGAATACATATATATGGAATACATATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATGTGGAATACATATATG GAATACATATATGTGGAATACATATATGGAATA		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2099		chr21	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(210): Show AATATATAATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATTATATATAATATATAATTTATAATATATTATATATAATATATAAT TTATAATATATTATATATAATATATAATATATTATATATTATATATAATA TATAATATATTATATATT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	390	0.0026	217	c.862 others(232): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATAATATATTATATATTATATATAATATATTATAAATTATATATTAT ATATAATATATTATAAATTATATATTATATATAATATATAATATATTATA TATTATATATAATATATTATAAATTATATATTATATATAATATATAATAT ATTATATATTATATATAATATATAATATATTATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(210): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGGTTCT GGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGC TCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAG GGAGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0068 a0068	a0068c0109 a0068c0109	a0068c0109t0001 a0068c0109t0001	a0068c0109t0001g0125 a0068c0109t0001g0125	1	428	0.0023	217	c.612 others(226): Show c.6123_6124insAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGG GATGGTTTAGGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTT ATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCA GGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGA GGCAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(210): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTG GAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGGC TCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAG GGAGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18941.hp1 NA18941.hp1	a0064 a0064	a0064c0161 a0064c0161	a0064c0161t0001 a0064c0161t0001	a0064c0161t0001g0276 a0064c0161t0001g0276	1	428	0.0023	217	c.612 others(226): Show c.6123_6124insAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGG GATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTA TAGGAAGGATTTGGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCA GGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGA GGCAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
INPP5A_chr10_132532787_132788480	132775124	G G	GGAGAGAT others(210): Show GGAGAGATGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACA GGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGG AGGAGAGAGGGGCAGGGAGGAGAGAGGGGCACGGAGGAGAGAGGGGCAGG GAGAGACGGGCAGGGAGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18973.hp1 NA18945.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	204	0.0098	217	c.978 others(234): Show c.978-2544_978-2543insAGATGGGCAGAGAGGAGGGGCAGGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGGGG GGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGG GAGGAGAGACAGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAC GGAGGAGAGAGGGGCAGGGAGAGACGGGCAGGGAGAGAG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(210): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT ATATGAAATATATATATGATATATATATGAAATATATATATGATATATAT ATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA19004.hp1 NA19030.hp2 NA18941.hp2 NA19004.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0192 a0002c0002t0001g0245 a0003c0003t0003g0021 a0001c0001t0001g0192 a0002c0002t0001g0245 a0003c0003t0003g0021	3	344	0.0087	217	c.25- others(232): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATATATGAAATATATATATGATATATATATGAAATATATAT ATGATATATATATGAAATATATATATGATATATATAT		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224735	T T	TCCATCCA others(210): Show TCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACC CATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCA TCCATCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTC CACCCATGTACCCACCCTCCCACCAACCCCACCCACCCATCCATTTATCC ACCTACCCACACATCCAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0099 a0007c0013t0001g0099	1	292	0.0034	217	c.121 others(236): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCCACCCATCCATCCA CCCACCCACCCACCCATCCATCCACCCACCCACCCACCCACCCATCCATC CACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCCACCC ACCCATCCATTTATCCACCTACCCACACATCCACCCATCCA		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(210): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGAC GGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0143 a0001c0001t0012g0143	1	375	0.0027	217	c.-22 others(228): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGCGACGGGGGAATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(210): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTC GGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01978.hp1 HG00639.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0291 a0001c0001t0032g0294 a0001c0001t0002g0291 a0001c0001t0032g0294	2	375	0.0053	217	c.-22 others(228): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997234	G G	GGGGGTCG others(210): Show GGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATG GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGC GGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	375	0.0027	217	c.-22 others(228): Show c.-2235_-2234insGGGGTCGGGGGAATCTGCAGAGATGGGGTCGGGG GAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATC TGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT		KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding					436		chr6	TogoVar
KLHL23_chr2_169728832_169756878	169738941	T T	TCTCCTCC others(210): Show TCTCCTCCCCCTCCTCCTCCCCCTCCTCCCCTCTCCCCTCCCCCCTTCCC CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCT CCCCCTCCTCCCCCCTCCCTCTCCTCCCCCCTCCTCCCCCCTTCCCCTCC CCCTCCTCCCCCTCTCCCCCCTCCTCCTCCCCCTCTCCCCCTCCTCCTCC CCCTCCTCCCTCTCCTCC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0051 a0001c0001t0091g0051	1	400	0.0025	217	c.121 others(236): Show c.1214-2443_1214-2442insTCCTCCCCCTCCTCCTCCCCCTCCTC CCCTCTCCCCTCCCCCCTTCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCT CCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCC CCCTCCTCCCCCCTTCCCCTCCCCCTCCTCCCCCTCTCCCCCCTCCTCCT CCCCCTCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTCCC		KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
KLHL6_chr3_183482551_183560706	183534094	T T	TAAAGTAC others(210): Show TAAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTTTTACTTTTAAAG TACTTTAAAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTTTTACTT TTAAAGTACTTTAAAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTT TACTTTTAAAGTACTTTAAAAGTACTTTACTTTTAAAGTACTTTTACTTT TAAAGTACTTTAAAAGTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0056 a0001c0004t0056	a0001c0004t0056g0283 a0001c0004t0056g0283	1	298	0.0034	217	c.294 others(234): Show c.294-6085_294-6084insTACTTTTAAAGTACTTTAAAAGTAAAAG TACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAGTACTTTT AAAGTACTTTAAAAGTAAAAGTACTTTTAAAGTACTTTAAAAGTAAAAGT ACTTTTAAAGTACTTTAAAAGTAAAAGTACTTTTAAAGTACTTTAAAAGT AAAAGTACTTTTAAAGTACTTTAAAAGTAAAAGTACTTT		KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6						chr3	TogoVar
LHPP_chr10_124456823_124619141	124507417	G G	GATTTCAG others(210): Show GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCA GGTGGGGGGATAGGGAGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	260	0.0039	217	c.624 others(234): Show c.624+9299_624+9300insGGGGGGTAGGGAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAG ACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	954971	T T	TCTAAGCG others(210): Show TCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGG GTCTGTGCACACACACACACACATCTAAGTGAACCAGACACGTTACATAA AATGCGTGCCCGCAGCAGACGTGGTGTGTGCATACACACACACACATCTA AGTAAACCAGACACGTTACATAAAATGCGTGCCTGCTGCAGACGTGGTGT GTGTATACACACACACAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01074.hp1 others(8): Show HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01258.hp2 HG01978.hp1 HG02300.hp1 HG02683.hp1 HG03239.hp1 HG04204.hp1 NA18906.hp1 NA20805.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0012	a0001c0010 a0001c0033 a0002c0035 others(3): Show a0001c0010 a0001c0033 a0002c0035 a0004c0034 a0008c0036 a0012c0037	a0001c0010t0001 a0001c0033t0001 a0002c0035t0001 others(3): Show a0001c0010t0001 a0001c0033t0001 a0002c0035t0001 a0004c0034t0015 a0008c0036t0003 a0012c0037t0005	a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 others(8): Show a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0010t0001g0279 a0001c0033t0001g0275 a0002c0035t0001g0280 a0004c0034t0015g0274 a0008c0036t0003g0277 a0012c0037t0005g0278	11	294	0.0374	217	c.194 others(232): Show c.194-306_194-305insGTGTGTGTGTGTATACACACACCACGTCTG CAGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTG TGTGTATGCACACACCACGTCTGCTGCGGGCACGCATTTTATGTAACGTG TCTGGTTCACTTAGATGTGTGTGTGTGTGTGCACAGACCCCGTCTGCTGC AGGCACGCATTTTATGTAACGTGTCTGGTTCGCTTAG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10						chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364601	C C	CACCCACA others(210): Show CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACGCCCACACTTACACTCATGCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTA CATCTACCTCCACACCCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	290	0.0035	217	c.129 others(234): Show c.1290-823_1290-822insACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCCAC ACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCC ACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCG		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10						chr10	TogoVar
LRRTM4_chr2_76742685_77527376	77227463	C C	CAGGCTAA others(210): Show CAGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	128	0.0078	217	c.155 others(240): Show c.1551+290854_1551+290855insTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCT		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LYPD8_chr1_248734415_248760759	248747555	C C	CCCCGCAC others(210): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCC ACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCA CGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGG GCATCCCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG CACCCACCCAGGGCATCG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0138 a0002c0002t0003g0138	1	374	0.0027	217	c.337 others(232): Show c.337+517_337+733dupCGATGCCCTGGGTGGGTGCTGGCCGTGCGG GCGATGCCCTGGGTGGGTGCTGGCCGTGCGGGGGATGCCCTGGGTGGGTG CTGGCCGTGCGGGGGATGCCCTGGGTGGGTGCTGGCCGTGCGGGCGATGC CCTGGGTGGGTGCTGGCCGTGCGGGGGATGCCCTGGGTGGGTGCTGGCCG TGCGGGCGATGCCCTGGGTGGGTGCTGGCCGTGCGGG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1940974	C C	CCCTCCTC others(210): Show CCCTCCTCTTCCTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGG CCTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCTCCCA GGCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTC TCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCT TCCTCTCCCAGGCCTCAG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0238 a0001c0015t0001g0238	1	264	0.0038	217	c.159 others(236): Show c.1597-4078_1597-4077insCTGAGGCCTGGGAGAGGAAGAGGAGG GTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGA GGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAG GAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGCCTGCGGG GGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAGAGGAGG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18						chr7	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(210): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	102	0.0098	217	c.111 others(236): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCGATCTCCGCTCACT GCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCTTTT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9						chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(210): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATATTTATATATAATATAATTATATAATATATATTTAT ATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp2 HG01081.hp2 HG00639.hp1 HG00741.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	3	288	0.0104	217	c.-31 others(228): Show c.-3131_-3130insTATATAATTATATTATATATAAATATATATTATA TAATTATATTATATATAAATATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATTATATATAAATTATATATTATATAATTATA TTATATATAAATTATATATTATATAATTATATTATATATAAATTATATAT TATATAATTATATTATATTATAATTATATATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATATA others(210): Show TATATATATAATTATAATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATTATATAATTATATAATAT ATAATTTATATATAATATAATTATATAATATATAATTTATATATAATATA ATTATATAATATATATTTATATATAATATAATTATATAATATATATTTAT ATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	288	0.0035	217	c.-31 others(228): Show c.-3131_-3130insTATATAATTATATTATATATAAATATATATTATA TAATTATATTATATATAAATATATATTATATAATTATATTATATATAAAT TATATATTATATAATTATATTATATATAAATTATATATTATATAATTATA TAATATATAAATTATATATTATATAATTATATTATATATAAATTATATAT TATATAATTATATTATATTATAATTATATATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3060		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061744	A A	ATTATATA others(210): Show ATTATATATAATATAATTATATAATATATAATTTATATATAATATAATTA TATAATATATAATTTATATATAATATAATTATATAATATATAATTTATAT ATAATATAATTATATAATATATAATTTATATATAATATAATTATATAATA TATAATTTATATATTATATAATTATATAATATATAATTTATATATAATAT AATTATATAATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01928.hp2 HG01978.hp1 others(3): Show HG00558.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp2 HG03239.hp1 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0003g0040 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0003g0040	6	288	0.0208	217	c.-31 others(228): Show c.-3140_-3139insATTATATATTATATAATTATATTATATATAAATT ATATATTATATAATTATATAATATATAAATTATATATTATATAATTATAT TATATATAAATTATATATTATATAATTATATTATATATAAATTATATATT ATATAATTATATTATATATAAATTATATATTATATAATTATATTATATAT AAATTATATATTATATAATTATATTATATATAA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					3069		chr19	TogoVar
MDP1_chr14_24208943_24221066	24209057	G G	GAAAGCTA others(210): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTC CATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCT ACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCTCCTTCCATTCCA AGTAGCAAAGCTACTTGCTCCTTCCATTCCAAGTAGCAAAGCTACTTGCT CCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG02622.hp2 HG02895.hp1 others(1): Show HG00423.hp2 HG02622.hp2 HG02895.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0002c0002t0001g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0002c0002t0001g0006 a0002c0002t0002g0011	4	404	0.0099	217	c.49 others(228): Show c.4966_*4967insGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCT ACTTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCA AGTAGCTTTGCTACTTGGAATGGAAGGAGCAAGTAGCTTTGCTACTTGGA ATGGAAGGAGCAAGTAGCTTTGCTACTTGGAATGGAAGGAGCAAGTAGCT TTGCTACTTGGAATGGAAGGAGCAAGTAGCTTT		MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding					4885		chr14	TogoVar
MLPH_chr2_237482251_237560322	237545216	T T	TGGGGACA others(210): Show TGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGGGGACAGTG GTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTTAGTGGGGGGAC AGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAG GGGACAGTGGTGAGTGGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0025 a0025	a0025c0030 a0025c0030	a0025c0030t0001 a0025c0030t0001	a0025c0030t0001g0035 a0025c0030t0001g0035	1	286	0.0035	217	c.154 others(236): Show c.1540-1378_1540-1377insTAGTGGGGGGACAGTGGTGAGTGGGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGG GGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTT AGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAGTGGT		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MPI_chr15_74885042_74907219	74894105	T T	TTCTGAGC others(210): Show TTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGTGC GATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCCTG CATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTTTTCTGAGCC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0136 a0001c0003t0005g0136	1	422	0.0024	217	c.670 others(232): Show c.670+785_670+786insTCTGAGCCAGGGTCTCTTTCTGTTGCCCCA GGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCG GGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTTTT CTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCC		MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7						chr15	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TTTTCTGA others(210): Show TTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGT GCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCC TGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0135 a0001c0003t0005g0135	1	422	0.0024	217	c.670 others(232): Show c.670+787_670+788insTTTCTGAGCCAGGGTCTCTTTCTGTTGCCC CAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCC CGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTT TTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAG		MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7						chr15	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(210): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCAC GTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGG GGGGGCGTGTGGGGGGGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0142 a0004c0017t0001g0142	1	388	0.0026	217	c.159 others(234): Show c.1596+173_1596+174insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGG GGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGG		MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17					INFO_REALIGN_3_PRIME	chr16	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(210): Show TAATATATATTATATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATAATATATAATATATATAATATATATTATATA TATAATATATAATATATATTATATATTATAATATATAATATATATTATAT ATATAATATATATTATATATAATATATATTATATATATATAATATATATA ATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	334	0.0030	217	c.547 others(234): Show c.5473-422_5473-421insTATATTTAAAATATATATTATATATATT ATATATATATAATATATATTATATATAATATATATTATATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATATATATAATAT ATATTATATATATTATATATTATATATATTATATATTATATATATAATAT ATATTATATATATTATATATTATATATATAATATATATT		MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82						chr13	TogoVar

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