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
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAT others(182): Show CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGA ATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02080.hp1 HG02129.hp1 others(2): Show HG00438.hp2 HG02080.hp1 HG02129.hp1 NA18967.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0003t0001g0265 a0001c0001t0001g0001 a0001c0001t0001g0100 a0001c0003t0001g0265	5	238	0.0210	189	c.215 others(206): Show c.2155-357_2155-356insCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTT GTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGG GATGCTGTGTT		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
ELANE_chr19_847303_861243	861199	T T	TCTGCACC others(182): Show TCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGGA CCCCGCCCCACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCT CTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCTA GCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0026 a0001c0012t0001g0026	1	387	0.0026	189	c.50 others(200): Show c.5035_*5036insCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCT CCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCCCGGGT CTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACC CTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCC ACCCC		ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding					4957		chr19	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGAGA others(182): Show GGGGGAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGG GGGAGAAAGGGACAGGGTTCCTGGGAGAAAGGGGTGGGGTTTGCCGGGGG AGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAG AAAGGGACAGGGTTCCTGGGAGAAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0044 a0006c0010t0002g0044	1	244	0.0041	189	c.120 others(206): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTTCTCCCAGGAA CCCTGTCCCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACC CTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTTCTCCCAGGAACCCTG TCCCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTC CCTTTCTCCCC		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9						chr9	TogoVar
EP400_chr12_131944942_132085460	131995494	C C	CCCACCAC others(182): Show CCCACCACAGCTTGACTGAATGTACCGTTCATCTTGAGTGTGTGAGAACT TCATGTGAATGAATCCACCACAGCTTGACTGAATGTACCGTTCATCTTGA GTGTGTGAGAACTTCATGTGAATGAATCCACCACAGCTTGACTGAATGTA CCGTTCATCTTGAGTGTGTGAGAACTTCATGTGAATGAAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0001 a0004c0047t0001	a0004c0047t0001g0070 a0004c0047t0001g0070	1	206	0.0049	189	c.282 others(206): Show c.2827+603_2827+604insACCACAGCTTGACTGAATGTACCGTTCA TCTTGAGTGTGTGAGAACTTCATGTGAATGAATCCACCACAGCTTGACTG AATGTACCGTTCATCTTGAGTGTGTGAGAACTTCATGTGAATGAATCCAC CACAGCTTGACTGAATGTACCGTTCATCTTGAGTGTGTGAGAACTTCATG TGAATGAATCC		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(182): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp2 HG03130.hp2 others(4): Show HG01884.hp2 HG02717.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 HG03579.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0001 a0002c0063 a0003c0052 others(3): Show a0002c0001 a0002c0063 a0003c0052 a0004c0004 a0004c0013 a0005c0007	a0002c0001t0008 a0002c0063t0002 a0003c0052t0002 others(3): Show a0002c0001t0008 a0002c0063t0002 a0003c0052t0002 a0004c0004t0002 a0004c0013t0001 a0005c0007t0003	a0002c0001t0008g0045 a0002c0063t0002g0048 a0003c0052t0002g0051 others(4): Show a0002c0001t0008g0045 a0002c0063t0002g0048 a0003c0052t0002g0051 a0004c0004t0002g0062 a0004c0004t0002g0075 a0004c0013t0001g0139 a0005c0007t0003g0134	7	80	0.0875	189	c.282 others(208): Show c.2827+3761_2827+3949dupACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAG		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(182): Show CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCC GCACCTGCCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGC ACCCGCCGCACCCGCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCT GCCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0115 a0115	a0115c0167 a0115c0167	a0115c0167t0010 a0115c0167t0010	a0115c0167t0010g0118 a0115c0167t0010g0118	1	152	0.0066	189	c.-46 others(202): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG GTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGCGGGTG CGGCGGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGG GCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCG GGTGCGG		EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1						chr8	TogoVar
EPS8L2_chr11_701231_732727	720978	G G	GCCCGGCA others(182): Show GCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCA GGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGG AGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCC GGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03491.hp2 HG03492.hp2 HG02735.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0040 a0001c0003t0001g0282 a0001c0003t0001g0040 a0001c0003t0001g0282	3	230	0.0130	189	c.557 others(202): Show c.557+71_557+72insCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAG GGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGC CCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGG GGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGA GGAGCCC		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20					INFO_REALIGN_3_PRIME	chr11	TogoVar
ERFL_chr19_41902704_41933449	41914569	G G	GTCTCTCC others(182): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCAT CTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCCTCCA CCATCTCTGTCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCC TCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	309	0.0032	189	c.-13 others(206): Show c.-13-1638_-13-1637insTGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAG AGACAGAGATGGTGGAGGGGGAGGGAGAGACAGAGATGGTGGAAGGGGAG GGAGAGACAGAGATGGTGGAAGGGGAGGGAGAGACAGAGATGGTGGAAGG GGAGGGAGAGA		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAC others(182): Show TCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCATCCCCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCCC CCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02647.hp2 HG03486.hp2 others(1): Show HG01070.hp2 HG02647.hp2 HG03486.hp2 HG03540.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0004 a0007c0007t0012 a0007c0007t0038 a0007c0007t0004 a0007c0007t0012 a0007c0007t0038	a0007c0007t0004g0035 a0007c0007t0004g0039 a0007c0007t0012g0040 others(1): Show a0007c0007t0004g0035 a0007c0007t0004g0039 a0007c0007t0012g0040 a0007c0007t0038g0038	4	34	0.1176	189	c.119 others(206): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGATGGGGGAGGGAG GAAAGGGGATGGGGGAGGGAGGAAAGAGGATGGGGAGGGAGGAAAGGGGA TGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAG GGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAA GGGGGTGGGGG		EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5						chr11	TogoVar
EYA4_chr6_133236357_133537128	133410619	T T	TAGAACTA others(182): Show TAGAACTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18992.hp1 HG00423.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0146 a0001c0001t0002g0147	2	208	0.0096	189	c.83+ others(206): Show c.83+28192_83+28193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGAGA ACTAAGGTCTT		EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM13A_chr4_88720960_89062185	88945783	G G	GTATATAT others(182): Show GTATATATATATATAAGTATATATATATTATATATATATATAAGTATATA TATATTATATATATATATAAGTATATATATATTATATATATATATAAGTA TATATATATTATATATATATATAAGTATATATATATTATATATATATATA AGTATATATATATTATATATATATATAAGTATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	196	0.0051	189	c.606 others(206): Show c.606-7543_606-7542insATATATATATACTTATATATATATATAA TATATATATACTTATATATATATATAATATATATATACTTATATATATAT ATAATATATATATACTTATATATATATATAATATATATATACTTATATAT ATATATAATATATATATACTTATATATATATATAATATATATATACTTAT ATATATATATA		FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	4/23						chr4	TogoVar
FAM174B_chr15_92612448_92660775	92631160	T T	TTACGTAT others(182): Show TTACGTATTACGTATTACATATTATATTATATATTACGTATTACGTATTA CATATTATATATTATATATTACGTATTACGTATTACATATTATATATTAT ATATTACGTATTACGTATTACATATTATATTATATATTATATATATTACA TATATTATATATTATATTATATATAATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	379	0.0026	189	c.345 others(204): Show c.345-816_345-815insTAATATATAATATATTATATATAATATAAT ATATAATATATGTAATATATATAATATATAATATAATATGTAATACGTAA TACGTAATATATAATATATAATATGTAATACGTAATACGTAATATATAAT ATATAATATGTAATACGTAATACGTAATATATAATATAATATGTAATACG TAATACGTA		FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2						chr15	TogoVar
FAM83F_chr22_39989954_40048534	40047439	T T	TAAAAATA others(182): Show TAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG03471.hp1 HG02717.hp1 HG02818.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0041 a0002c0002t0034 a0002c0002t0035 a0001c0001t0041 a0002c0002t0034 a0002c0002t0035	a0001c0001t0041g0124 a0002c0002t0034g0115 a0002c0002t0035g0114 a0001c0001t0041g0124 a0002c0002t0034g0115 a0002c0002t0035g0114	3	224	0.0134	189	c.17 others(202): Show c.17874_*17875insAAAAATACAAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAA		FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding					3906		chr22	TogoVar
FER1L6_chr8_123846987_124125061	123856004	A A	ATATGAGA others(182): Show ATATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACAT ATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATAT ACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGT ATATACATATGTGTATGAGATATATGTATATACATATGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18969.hp2 NA19066.hp1 HG01192.hp2 NA18969.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0003 a0001c0001 a0001c0009 a0002c0003	a0001c0001t0004 a0001c0009t0001 a0002c0003t0002 a0001c0001t0004 a0001c0009t0001 a0002c0003t0002	a0001c0001t0004g0011 a0001c0009t0001g0009 a0002c0003t0002g0171 a0001c0001t0004g0011 a0001c0009t0001g0009 a0002c0003t0002g0171	3	177	0.0169	189	c.-8+ others(204): Show c.-8+3845_-8+3846insGTATGAGATATATGTATATACATATGTGTA TGAGATATATGTATATACATATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856031	A A	ATATGAGA others(182): Show ATATGAGATATATGTATATACATATGTATATGAGATATATGTATATACAT ATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATAT ACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGT ATATACATATGTGTATGAGATATATGTATATACATATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01123.hp2 others(17): Show HG00099.hp2 HG00741.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01433.hp2 HG02080.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG03098.hp2 HG03516.hp1 NA18959.hp1 NA18969.hp1 NA18990.hp1 NA19010.hp2 NA19064.hp2 NA19084.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0016	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0024 a0002c0003 a0002c0007 a0002c0010 a0002c0047 a0006c0022 a0016c0050	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0006t0002 a0001c0024t0002 a0002c0003t0001 a0002c0003t0004 a0002c0007t0001 a0002c0010t0001 a0002c0010t0004 a0002c0047t0001 a0006c0022t0001 a0016c0050t0001	a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0002t0001g0136 others(17): Show a0001c0001t0001g0154 a0001c0001t0001g0162 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0137 a0001c0002t0002g0195 a0001c0004t0002g0161 a0001c0006t0002g0059 a0001c0006t0002g0179 a0001c0024t0002g0122 a0002c0003t0001g0193 a0002c0003t0004g0010 a0002c0007t0001g0021 a0002c0010t0001g0147 a0002c0010t0004g0100 a0002c0047t0001g0160 a0006c0022t0001g0135 a0016c0050t0001g0152	20	65	0.3077	189	c.-8+ others(204): Show c.-8+3872_-8+3873insATATGAGATATATGTATATACATATGTGTA TGAGATATATGTATATACATATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FER1L6_chr8_123846987_124125061	123856031	A A	ATATGAGA others(182): Show ATATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACAT ATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATAT ACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGT ATATACATATGTGTATGAGATATATGTATATACATATGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp1 others(9): Show HG00438.hp1 HG00558.hp1 HG00609.hp1 HG01074.hp1 HG02486.hp1 HG02698.hp2 HG03654.hp2 HG03710.hp2 NA18970.hp2 NA19002.hp2 NA19081.hp1 NA19088.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0008 a0009 a0019 a0023	a0001c0004 a0001c0005 a0001c0008 others(9): Show a0001c0004 a0001c0005 a0001c0008 a0001c0040 a0002c0007 a0002c0035 a0003c0039 a0006c0022 a0008c0056 a0009c0054 a0019c0032 a0023c0045	a0001c0004t0001 a0001c0005t0002 a0001c0008t0003 others(9): Show a0001c0004t0001 a0001c0005t0002 a0001c0008t0003 a0001c0040t0002 a0002c0007t0001 a0002c0035t0001 a0003c0039t0002 a0006c0022t0001 a0008c0056t0001 a0009c0054t0001 a0019c0032t0001 a0023c0045t0002	a0001c0004t0001g0002 a0001c0005t0002g0001 a0001c0008t0003g0055 others(9): Show a0001c0004t0001g0002 a0001c0005t0002g0001 a0001c0008t0003g0055 a0001c0040t0002g0189 a0002c0007t0001g0004 a0002c0035t0001g0176 a0003c0039t0002g0134 a0006c0022t0001g0185 a0008c0056t0001g0005 a0009c0054t0001g0158 a0019c0032t0001g0148 a0023c0045t0002g0124	12	57	0.2105	189	c.-8+ others(204): Show c.-8+3869_-8+4057dupATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATG TATATACAT		FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40					INFO_REALIGN_3_PRIME	chr8	TogoVar
FLT3_chr13_27998274_28105576	28065534	C C	CGGGAGGC others(182): Show CGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTAGGAGGTTGAGGCTGAA GTGAGCTATGTTTGTGTCACTGCACTCCAGCCTGGACAACGGAGCGAGAT CTTGTCTCAAAGTAATAATAATAATAATAATAATAATAATAATAATAATA ATCCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	286	0.0035	189	c.166 others(206): Show c.166-3466_166-3465insAAAGTGCTGGGATTACAGGCGTGAGCCA CCACACCTGGATTATTATTATTATTATTATTATTATTATTATTATTATTA CTTTGAGACAAGATCTCGCTCCGTTGTCCAGGCTGGAGTGCAGTGACACA AACATAGCTCACTTCAGCCTCAACCTCCTAGGCTCAAGCAATCCTCCTGC CTCAGCCTCCC		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23						chr13	TogoVar
GAL3ST2_chr2_241771822_241809287	241807891	C C	CTCCCCCC others(182): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	306	0.0033	189	c.37 others(200): Show c.3725_*3726insTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3605		chr2	TogoVar
GAS6_chr13_113815549_113869076	113836850	G G	GGGGGAGG others(182): Show GGGGGAGGAGGAGGGGGAGTGGGGGGGAGGAGGAGGGGGAGTGGGGGGGA GGAGGAGAAGAAAGAGGAGGAGGAAGATGGGGAGGAGGAGGAGGAAGATG GGGAGGAGGAGGGGGAGTGGGGGGAGGAGGAGAAGAAAGAGGAGGAGGAA GATGAGGAGGAGGAAGATGGGGAGGAGGAGGGGGAATGGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	4	0.2500	189	c.590 others(206): Show c.590-1216_590-1215insTCCATTCCCCCTCCTCCTCCCCATCTTC CTCCTCCTCATCTTCCTCCTCCTCTTTCTTCTCCTCCTCCCCCCACTCCC CCTCCTCCTCCCCATCTTCCTCCTCCTCCTCCCCATCTTCCTCCTCCTCT TTCTTCTCCTCCTCCCCCCCACTCCCCCTCCTCCTCCCCCCCACTCCCCC TCCTCCTCCCC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14						chr13	TogoVar
GLI2_chr2_120730868_120997653	120881779	T T	TGGGGGAA others(182): Show TGGGGGAAGGACAGTGGAGGGAGGGCAGGTGGGGGGAGGACAGTGGGGAG AAGACAGCCGGGGGAGGACAGAGTGGGGAGGACAGTGGGGAGAGGACAGT GGTGGGGAGGGCAGGTGGGGGGAAGGTAGGTGGGGGGAAGGTAGGTGGGG GGGAAGGTAGGTGGGGGAGGACAGTGGGGGAGGACAGGTG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0149 a0001c0003t0032g0149	1	134	0.0075	189	c.149 others(208): Show c.149-45578_149-45577insGAAGGACAGTGGAGGGAGGGCAGGTG GGGGGAGGACAGTGGGGAGAAGACAGCCGGGGGAGGACAGAGTGGGGAGG ACAGTGGGGAGAGGACAGTGGTGGGGAGGGCAGGTGGGGGGAAGGTAGGT GGGGGGAAGGTAGGTGGGGGGGAAGGTAGGTGGGGGAGGACAGTGGGGGA GGACAGGTGGGGG		GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GLI2_chr2_120730868_120997653	120881779	T T	TGGGGGAA others(182): Show TGGGGGAAGGACAGTGGAGGGAGGGCAGGTGGGGGGGAGGACAGTGGGGA GAAGACAGCCGGGGGAGGACAGAGTGGGGAGGACAGTGGGGAGAGGACAG TGGTGGGGAGGGCAGGTGGGGGGAAGGTAGGTGGGGGGAAGGTAGGTGGG GGGAAGGTAGGTGGGGGAGGACAGTGGGGGAGGACAGGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0079 a0002c0004t0005g0079	1	134	0.0075	189	c.149 others(208): Show c.149-45578_149-45577insGAAGGACAGTGGAGGGAGGGCAGGTG GGGGGGAGGACAGTGGGGAGAAGACAGCCGGGGGAGGACAGAGTGGGGAG GACAGTGGGGAGAGGACAGTGGTGGGGAGGGCAGGTGGGGGGAAGGTAGG TGGGGGGAAGGTAGGTGGGGGGAAGGTAGGTGGGGGAGGACAGTGGGGGA GGACAGGTGGGGG		GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240125	A A	ACGTGAAC others(182): Show ACGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAGGCTGTGTGAAC AGGAGGAGAGGCTACGTGAACATGAGGAGAGGCTGTGTGAACAGGAGGAG AGGCTATGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTACA TGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03453.hp2 HG03453.hp2	a0031 a0031	a0031c0035 a0031c0035	a0031c0035t0032 a0031c0035t0032	a0031c0035t0032g0032 a0031c0035t0032g0032	1	246	0.0041	189	c.771 others(196): Show c.771_772insCGTGAACAGGAGGAGAGGCTGTGTGAACAGGAGGAGAG GCTGTGTGAACAGGAGGAGAGGCTACGTGAACATGAGGAGAGGCTGTGTG AACAGGAGGAGAGGCTATGTGAACAGGAGGAGAGGCTACGTGAACAGGAG GAGAGGCTACATGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCT G	p.Leu others(202): Show p.Leu257_Cys258insArgGluGlnGluGluArgLeuCysGluGlnGl uGluArgLeuCysGluGlnGluGluArgLeuArgGluHisGluGluArgL euCysGluGlnGluGluArgLeuCysGluGlnGluGluArgLeuArgGlu GlnGluGluArgLeuHisGluGlnGluGluArgLeuArgGluGlnGluGl uArgLeu	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	834/4553	772/1725	258/574			chr15	TogoVar
GPATCH2_chr1_217421992_217636090	217524847	C C	CGTGGAAA others(182): Show CGTGGAAAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA GGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAG GGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGG GGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0071 a0001c0001t0005g0071	1	162	0.0062	189	c.109 others(208): Show c.1099-9959_1099-9958insTCTCCCCTCTCCCCTCTCCCCTCTCC CCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCC CTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCC TCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT CTCCCCTTTCCAC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPRIN1_chr5_176590802_176615156	176591689	A A	ATGATGGT others(182): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGGTGGTGGT GGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(78): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02293.hp2 HG02683.hp1 HG03017.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19059.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA20300.hp1 NA20905.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0006c0015 a0010c0014	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0013t0001 a0006c0015t0001 a0010c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 others(20): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0007g0025 a0001c0001t0008g0040 a0001c0003t0001g0006 a0001c0013t0001g0090 a0006c0015t0001g0092 a0010c0014t0001g0091	81	333	0.2432	189	c.51 others(200): Show c.5118_*5119insCCATCACAACCATCACCATCACCTCAACACCAAC ACCACCACCACCACCACCATCGTCATCATCACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCA		GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding					4112		chr5	TogoVar
GRAMD1B_chr11_123425269_123632767	123457117	A A	AGAAAGAA others(182): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01192.hp2 HG01081.hp1 HG01192.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0024 a0001c0001t0001 a0001c0001t0007 a0001c0002t0024	a0001c0001t0001g0271 a0001c0001t0007g0134 a0001c0002t0024g0140 a0001c0001t0001g0271 a0001c0001t0007g0134 a0001c0002t0024g0140	3	121	0.0248	189	c.375 others(208): Show c.375-23699_375-23698insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAG		GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19						chr11	TogoVar
GSE1_chr16_85608322_85681200	85653208	C C	CCTCCCCC others(182): Show CCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCTTCC CCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCTCCTCCCCCCCTCCTCCTC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0111 a0003c0008t0001g0111	1	277	0.0036	189	c.427 others(206): Show c.427-1069_427-1068insTCCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC CTCCTCCCCCCCTCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTC		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(182): Show CTCCCCCCCCCCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0129 a0001c0002t0017g0129	1	207	0.0048	189	c.427 others(206): Show c.427-1062_427-1061insTCCCCCCCCCCTCCCCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(182): Show CTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	207	0.0048	189	c.427 others(206): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCTTCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCCCTCCTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GSE1_chr16_85608322_85681200	85653282	T T	TCCTCCCC others(182): Show TCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCT CCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCCCTCCTCCTCCTCCCCC CTCCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	228	0.0044	189	c.427 others(204): Show c.427-993_427-992insCCCCCCTCCTCCTCCTCCTCCCCCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCCCCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCCCC CTCCTCCTCCTCCCCCCTCCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTC CTCCCCCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
GTF2IRD2B_chr7_75087590_75154817	75136467	A A	ATTTTTGT others(182): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	168	0.0060	189	c.806 others(204): Show c.806-305_806-304insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTT		GTF2IRD2B	ENSG00000174428.19	transcript	ENST00000472837.7	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
GUCY1A2_chr11_106669019_107023476	106709627	A A	ATTATATA others(182): Show ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATATTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAGTTATATATTATATACACGTATAGAATATATAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0117 a0001c0001t0051g0117	1	159	0.0063	189	c.183 others(207): Show c.1837-1150_1837-962dupCTATATATTCTATACGTGTATATAATA TATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGTA TATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGTA TATAATATATAACTATATATTCTATACGTGTATATAACTATATATTCTAT ACGTGTATATAA		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709732	T T	TAGTTATA others(182): Show TAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATA TAGTTATATATTATATACACGTATAGAATATATAGTTATATACACGTATA GAATATATAGTTATATACACGTATAGAATATATAGTTATATATTATATAC ACGTATAGAATATATAGTTATATACACGTATAGAATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0092 a0001c0001t0012g0092	1	248	0.0040	189	c.183 others(208): Show c.1837-1067_1837-1066insGTATATTCTATACGTGTATATAACTA TATATTCTATACGTGTATATAATATATAACTATATATTCTATACGTGTAT ATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGTAT ATAATATATAACTATATATTCTATACGTGTATATAACTATATATTCTATA CGTGTATATAACT		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106710086	T T	TTATATAC others(182): Show TTATATACATGTATATAACATATAGTTATGTATATTATATACATGTATAT AACATAGTTATATACATATAACTATATGTATATAATATATAGTACATGTA TATAATATATAGTTATATATAATATAGTTATATACATGTATATAATATAT AGTTATATATAATAGTTATATATATTATATACATGTATAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	218	0.0046	189	c.183 others(208): Show c.1837-1421_1837-1420insTTATACATGTATATAATATATATAAC TATTATATATAACTATATATTATATACATGTATATAACTATATTATATAT AACTATATATTATATACATGTACTATATATTATATACATATAGTTATATG TATATAACTATGTTATATACATGTATATAATATACATAACTATATGTTAT ATACATGTATATA		GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7						chr11	TogoVar
HEATR4_chr14_73473484_73563947	73546924	T T	TAAAAATA others(182): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG00738.hp2 others(31): Show HG00558.hp2 HG00642.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01358.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG02004.hp1 HG02015.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02602.hp2 HG02738.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03704.hp2 HG04228.hp2 NA18954.hp2 NA19007.hp1 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp2 NA20300.hp2 NA20752.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0029 a0005c0008 a0006c0035	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0014t0001 a0001c0029t0001 a0005c0008t0001 a0006c0035t0005	a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0098 others(29): Show a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0003g0351 a0001c0002t0001g0114 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0003g0331 a0001c0003t0001g0115 a0001c0014t0001g0102 a0001c0029t0001g0130 a0005c0008t0001g0106 a0006c0035t0005g0103	34	348	0.0977	189	c.-15 others(210): Show c.-152+11826_-152+11827insTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTA AATTTTTGTATTTTT		HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	1/17						chr14	TogoVar
HNF1A_chr12_120973543_121007512	120987987	G G	GTCCATCC others(182): Show GTCCATCCATCCATCATCCATCTACCCACCCACCCACCAATCCATCCATC CATTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCAC CAATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTA CCCACCCACCCACCAATCCATCCATCCATTCATCCAACCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp1 HG00735.hp1 others(7): Show HG00597.hp1 HG00642.hp1 HG00735.hp1 HG01168.hp1 HG01169.hp2 HG01516.hp1 HG02040.hp2 HG02630.hp2 HG03669.hp1 NA18952.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0003c0005 a0004c0008 a0006c0014	a0001c0001t0003 a0001c0003t0003 a0001c0006t0001 others(3): Show a0001c0001t0003 a0001c0003t0003 a0001c0006t0001 a0003c0005t0002 a0004c0008t0003 a0006c0014t0001	a0001c0001t0003g0023 a0001c0001t0003g0154 a0001c0001t0003g0175 others(6): Show a0001c0001t0003g0023 a0001c0001t0003g0154 a0001c0001t0003g0175 a0001c0003t0003g0147 a0001c0006t0001g0221 a0001c0006t0001g0225 a0003c0005t0002g0179 a0004c0008t0003g0306 a0006c0014t0001g0222	10	307	0.0326	189	c.327 others(204): Show c.327-762_327-761insTACCCACCCACCCACCAATCCATCCATCCA TTCATCCAACCATCCATCCATCCATCATCCATCTACCCACCCACCCACCA ATCCATCCATCCATTCATCCAACCATCCATCCATCCATCATCCATCTACC CACCCACCCACCAATCCATCCATCCATTCATCCAACCATCCATCCATCCA TCATCCATC		HNF1A	ENSG00000135100.19	transcript	ENST00000257555.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
HPCAL1_chr2_10297904_10432604	10399355	C C	CCACCACC others(182): Show CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCGCCACCACCACCACCATCACCGCCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	289	0.0035	189	c.-25 others(206): Show c.-25+2441_-25+2442insCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATC ACCATCACCAC		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
IDI1_chr10_1034419_1054119	1038816	G G	GTGTCCCC others(182): Show GTGTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGG GTACGACCTGGACTTGTCCCCATGGAGCAGGTGGAGGGCAGGTCCCACAG GGACGCACTGCGGGTACGACTTGGACTTGTCCCCAGGGAGCAGGTGGAGG GCAGTTCCCACAGGGACGCACTGCGGGTACGACCTGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0029 a0001c0001t0001g0063	2	379	0.0053	189	c.23 others(200): Show c.2370_*2371insAGTCCAGGTCGTACCCGCAGTGCGTCCCTGTGGG AACTGCCCTCCACCTGCTCCCTGGGGACAAGTCCAAGTCGTACCCGCAGT GCGTCCCTGTGGGACCTGCCCTCCACCTGCTCCATGGGGACAAGTCCAGG TCGTACCCGCAGTGCGTCCCTGTGGGAACTGCCCTCCACCTGCTCCCTGG GGACA		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding					602		chr10	TogoVar
IDI1_chr10_1034419_1054119	1039033	T T	TTCCCACA others(182): Show TTCCCACAGGGACGCACTGCGGGTACGACCTGGACTTGTCCCCAGGGAGC AGGTGGAGGGCAGGTCCCACAGGGACGCACTGCGGGTACGACCTGGACGT GTCCCCAGGGAGCAGGTGGAGGGCAGTTCCCACAGGGACGCACTGCGGGT ACGACCTGGACTTGTCCCCATGGAGCAGGTGGAGGGCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02723.hp1 NA20129.hp1 HG02647.hp2 HG02723.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	3	378	0.0079	189	c.21 others(200): Show c.2153_*2154insCCTGCCCTCCACCTGCTCCATGGGGACAAGTCCA GGTCGTACCCGCAGTGCGTCCCTGTGGGAACTGCCCTCCACCTGCTCCCT GGGGACACGTCCAGGTCGTACCCGCAGTGCGTCCCTGTGGGACCTGCCCT CCACCTGCTCCCTGGGGACAAGTCCAGGTCGTACCCGCAGTGCGTCCCTG TGGGA		IDI1	ENSG00000067064.13	transcript	ENST00000381344.8	protein_coding					385		chr10	TogoVar
IFNAR1_chr21_33319970_33364864	33322332	A A	AATATATA others(182): Show AATATATATATGCAGTATATATATATGAATATATATATGGAATATATATG GAATATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATGTGGAATATATA TATGGAATATATATATATGTGGAATATATATATGGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	306	0.0033	189	c.-27 others(200): Show c.-2724_-2723insATATATATATGCAGTATATATATATGAATATATA TATGGAATATATATGGAATATATATATGGAATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGG AATAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2637		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322332	A A	AATATATA others(182): Show AATATATATATGCAGTATATATATATGAATATATATATGGAATATATATG GAATATATATATGGAATATATATATGGAATATATATGTGGAATATATATA TGGAATATATATGTGGAATATATATATGGAATATATATGTGGAATATATA TATGGAATATATATATATGTGGAATATATATATGGAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0225 a0002c0002t0002g0225	1	306	0.0033	189	c.-27 others(200): Show c.-2724_-2723insATATATATATGCAGTATATATATATGAATATATA TATGGAATATATATGGAATATATATATGGAATATATATATGGAATATATA TGTGGAATATATATATGGAATATATATGTGGAATATATATATGGAATATA TATGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGG AATAT		IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding					2637		chr21	TogoVar
IL1RAPL1_chrX_28582446_29961718	29507379	C C	CCCCTTCT others(182): Show CCCCTTCTCTCCCCTCCCTTCCCTCCCCTTCTCTGCCCTCCCCTCCCCTC CCTTTCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCCTCCCA TCCCCTCCCCTTCCCTCCCCTTCCCTCCCCCTCCCCTCCCCTCCCCTTCC CCTCCCGTCCCCTCCCCTTCCCTTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	59	0.0169	189	c.703 others(210): Show c.703+108077_703+108078insTCTCCCCTCCCTTCCCTCCCCTTC TCTGCCCTCCCCTCCCCTCCCTTTCCCTCCCCTCCCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCCATCCCCTCCCCTTCCCTCCCCTTCCCTCCCCC TCCCCTCCCCTCCCCTTCCCCTCCCGTCCCCTCCCCTTCCCTTCCCCTCC CCTCCCCTTCCCTTC		IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
INS_chr11_2154779_2166209	2161578	A A	AGACCCCT others(182): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACC CCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG03490.hp2 HG03492.hp2 others(1): Show HG00099.hp1 HG03490.hp2 HG03492.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	207	0.0193	189	c.-42 others(198): Show c.-429_-428insCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGA CAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGG GTC		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					370		chr11	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(182): Show TAAGAAAAGAAAAGAAAGAAAAGAAACGAAACGAAACGAAACGAAAAGAA AAGAAAAGAAAAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0161	1	233	0.0043	189	c.127 others(208): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCT TCTTTTCTTTTCTTTTCTTTTCGTTTCGTTTCGTTTCGTTTCTTTTCTTT CTTTTCTTTTCTT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14						chr3	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAG others(182): Show TAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0158 a0002c0003t0001g0158	1	233	0.0043	189	c.127 others(208): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTCTT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14						chr3	TogoVar
IQSEC3_chr12_61767_183455	103600	G G	GGGGCTCA others(182): Show GGGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAG GGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGTAGGTGGGGGCT CAGGAGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGG CGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0010 a0001c0006t0010	a0001c0006t0010g0211 a0001c0006t0010g0212 a0001c0006t0010g0211 a0001c0006t0010g0212	2	279	0.0072	189	c.623 others(206): Show c.623+4497_623+4498insCGGGGCTCAGGAGGGAGAGGTGGAGTTC GGTGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCA GGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGG GAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGTAGGTGGGGGCTC AGGAGGGGAGG		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103629	G G	GGGGGAGG others(182): Show GGGGGAGGCAGGGCTCAGGGGGAGGTGGGGGCTCAGGAGGGGAGGTGGGG CTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGAG AGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGAGGGAGAGGTGGAGTTCA GGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0009	a0002c0001t0009g0064 a0002c0001t0009g0064	1	253	0.0040	189	c.623 others(206): Show c.623+4423_623+4424insAGGGCTCAGGGGGAGGTGGGGGCTCAGG AGGGGAGGTGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCGGG GCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGAGGGA GAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTC GGTGGGGAGGC		IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(182): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT GAAATATATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	54	0.0185	189	c.25- others(204): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATAT		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
ISYNA1_chr19_18429388_18443133	18442181	C C	CCCTAACA others(182): Show CCCTAACACATACCACACCCACACCACACACCCACACACACCACACCCAC CCCAACACACACCACACAACCCACACTGCACACCCCACACCCCACACCCC ACACCACACCACCCACACCCCACCCACACACACCACACCCCCACACCCAC ACCCACACCCCACCCACACACACCCACACCACACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0030 a0006c0011t0001g0030	1	306	0.0033	189	c.-40 others(200): Show c.-4099_-4098insTGGGGTGTGTGGTGTGGGTGTGTGTGGGTGGGGT GTGGGTGTGGGTGTGGGGGTGTGGTGTGTGTGGGTGGGGTGTGGGTGGTG TGGTGTGGGGTGTGGGGTGTGGGGTGTGCAGTGTGGGTTGTGTGGTGTGT GTTGGGGTGGGTGTGGTGTGTGTGGGTGTGTGGTGTGGGTGTGGTATGTG TTAGG		ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding					4049		chr19	TogoVar
ITGAV_chr2_186585056_186685901	186605797	A A	AATATATT others(182): Show AATATATTCTTATGTATATGTATAATACATATATTCTTATGTATATGTAT AATACATATATTCTTATGTATATGTATAATACATATATTCTTATGTATAT GTATAATACATATATTCTTATGTATATGTATAATACATATATTCTTATGT ATATGTATAATACATATATTCTTATGTATATGTATAATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(64): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02056.hp2 HG02074.hp2 HG02135.hp1 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18949.hp1 NA18954.hp2 NA18960.hp2 NA18967.hp1 NA18979.hp2 NA18980.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA19002.hp1 NA19007.hp2 NA19060.hp2 NA19070.hp2 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA20752.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0005c0010t0003	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0030 others(63): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0155 a0001c0001t0002g0006 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0003g0039 a0001c0001t0008g0026 a0001c0001t0008g0034 a0001c0001t0008g0110 a0001c0001t0009g0074 a0001c0001t0011g0059 a0001c0001t0011g0077 a0001c0001t0013g0055 a0001c0001t0013g0056 a0001c0001t0018g0156 a0001c0001t0023g0071 a0005c0010t0003g0070	67	73	0.9178	189	c.316 others(206): Show c.316+3750_316+3751insATACATATATTCTTATGTATATGTATAA TACATATATTCTTATGTATATGTATAATACATATATTCTTATGTATATGT ATAATACATATATTCTTATGTATATGTATAATACATATATTCTTATGTAT ATGTATAATACATATATTCTTATGTATATGTATAATACATATATTCTTAT GTATATGTATA		ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr2	TogoVar
IYD_chr6_150364012_150410969	150372412	T T	TTGTGACC others(182): Show TTGTGACCATGCTTATTAGACATGTGTGTGTGTGGGTGAGGTGGGGGGTG GTGAGGGAACATTGTGTGTCCATGCTTAATAGACATGTGTGTGTGGGGGT GGGGTGGGGAGTGGTGAGGGGTCATGTTGTGTCCATGCTTATTAGACATG TGTGTGTGTGGGTGGGGTGGGGGGTGGTGAGAGAACATTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0129 a0001c0001t0102g0129	1	410	0.0024	189	c.178 others(206): Show c.178+3207_178+3208insACCATGCTTATTAGACATGTGTGTGTGT GGGTGAGGTGGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTAATAGA CATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCATGTTGTGTC CATGCTTATTAGACATGTGTGTGTGTGGGTGGGGTGGGGGGTGGTGAGAG AACATTGTGTG		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar

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