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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(287): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGG AGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0063 a0011c0017t0063	a0011c0017t0063g0174 a0011c0017t0063g0174	1	14	0.0714	294	c.229 others(313): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(287): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGG AAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGG AGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0170 a0001c0001t0057g0170	1	14	0.0714	294	c.229 others(313): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATATG others(287): Show TATATATGTTCATATATATGTTCATATATATATGTTCATATATATATGTT CATATATATATGTACATATATATGTTCATATATATATGTTCATATATATA TGTACATATATATGTACATATATATATGTTCATATATATATGTACATATA TATGTACATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTT CATATATATATGTTCATATATATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0230 a0002c0003t0001g0230	1	112	0.0089	294	c.143 others(311): Show c.143+2190_143+2191insGTTCATATATATGTTCATATATATATGT TCATATATATATGTTCATATATATATGTACATATATATGTTCATATATAT ATGTTCATATATATATGTACATATATATGTACATATATATATGTTCATAT ATATATGTACATATATATGTACATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATATGT TCATATATATATGTTCATATATATATGTTCATATATATATATGTTCATAT ATATATGTTCATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPIHBP1_chr8_143208218_143222170	143211626	G G	GGCGGGGG others(287): Show GGCGGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGG CGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTGGGGGAGGA GGGGTGAAGATGACGGGAGGCAGTGCACGGGGGAGGCGGGGCACAGGAGA GGCGGGGTCAACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGAATGGGGG CGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTGGGGGAGGC GGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0004 a0001c0004t0016g0004	1	57	0.0175	294	c.-16 others(305): Show c.-1642_-1641insGCGGGGGCGTGAGAGGCGGGGCAGTGGGGGAGGC GGGGCGTGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCG GGGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGGCAGTGCACGGGGGAG GCGGGGCACAGGAGAGGCGGGGTCAACAGGGAGGTGGGACGCTGGGGAGA AGGGGCGAATGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGG GGCAGTGGGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGG CACCAGGGTA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1591		chr8	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATAAATA others(287): Show AATAAATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATATATATTTATATTTATTTATAAATAAATATATATAAATATATA TAAATATATATTTATATTTATTTATAAATAAATATATATAAATATATATT TATATTTATTTATAAATAAATATATATAAATATATATTTATAGTTATTTA TATATAAATATATAAATATATATTTATAGTTATTTATATATAAATATATA AATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0007 a0001c0002t0007g0007	1	140	0.0071	294	c.-97 others(311): Show c.-97-2068_-97-2067insATAAATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATATATATTTATATTTATTTATAA ATAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAAT AAATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAA ATATATATTTATAGTTATTTATATATAAATATATAAATATATATTTATAG TTATTTATATATAAATATATAAATATATATTTATAGTTATTTATATATAA ATATATAAATCTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	A A	AGCCTGTG others(287): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACA GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCC TGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCT GTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	intron_variant intron_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	124	0.0081	294	c.162 others(311): Show c.162+4509_162+4510insAGCCTGTGTCCTTTCGTCTCCTGGGGAC CGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACC GGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCG GGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGG GGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGG GATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGG ATGGGTAGAACCTCAC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	A A	AGCCTGTG others(287): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCC TGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCT GTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02015.hp2 HG02615.hp2 others(7): Show HG00733.hp2 HG02015.hp2 HG02615.hp2 HG02818.hp2 HG02896.hp2 HG03041.hp2 HG03098.hp2 NA18955.hp2 NA19007.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0025 a0001c0001t0049	a0001c0001t0001g0265 a0001c0001t0001g0309 a0001c0001t0002g0236 others(6): Show a0001c0001t0001g0265 a0001c0001t0001g0309 a0001c0001t0002g0236 a0001c0001t0002g0275 a0001c0001t0005g0001 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0025g0260 a0001c0001t0049g0059	10	133	0.0752	294	c.162 others(311): Show c.162+4748_162+5041dupACCTCACGGCCTGTGTCCTTTCGTCTCC TGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCT GGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTG GGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGG GGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGG GACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTCCTGGGG ACCGGGGATGGGTAGA	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46631437	G G	GTCTCCTG others(287): Show GTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCG TCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGT CTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTC TCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCT CCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTCTC CTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0189 a0001c0001t0048g0189	1	326	0.0031	294	c.162 others(311): Show c.162+4769_162+4770insCTCTCCTGGGGACCGGGGATGGGTAGAA CCTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAAC CTCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACC TCACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCT CACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTC ACGGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCA CGGCCTGTGTCCTTTC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRHL1_chr2_9946693_10007277	9998577	C C	CATATATA others(287): Show CATATATATGTACACATATATATACATATATATGTACACATATATATACA TATATATGTACACATATATATACATATATATGTACACATATATATACATA TATATGTACACATATATATACATATATATGTACACATATATATATACATA TATATGTACACATATATATATACATATATATGTACACATATATATATACA TATATATGTACACATATATATATACATATATATGTACACATATATATATA CATATATATGTACACATATATATATACATATATATGTACACATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0098 a0004c0004t0002g0098	1	303	0.0033	294	c.167 others(311): Show c.1678-384_1678-383insATATGTACACATATATATACATATATAT GTACACATATATATACATATATATGTACACATATATATACATATATATGT ACACATATATATACATATATATGTACACATATATATACATATATATGTAC ACATATATATATACATATATATGTACACATATATATATACATATATATGT ACACATATATATATACATATATATGTACACATATATATATACATATATAT GTACACATATATATATACATATATATGTACACATATATATATACATATAT ATGTACACATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998601	T T	TATATGTG others(287): Show TATATGTGTACACATATATATACACATATATGTGTACACATATATATACA CATATATGTGTACACATATATATACACATATATGTGTACACATATATATA CACATATATGTGTACACATATATATACACATATATGTGTACACATATATA TACACATATATGTGTACACATATATATACACATATATGTGTACACATATA TATACACATATATGTGTACACATATATATACACATATATGTGTACACATA TATATACATATATGTGTACACATATATATACATATATGTGTACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0312 a0002c0002t0002g0312	1	390	0.0026	294	c.167 others(311): Show c.1678-360_1678-359insGTGTACACATATATATACACATATATGT GTACACATATATATACACATATATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTGTACACATATATATACACAT ATATGTGTACACATATATATACACATATATGTGTACACATATATATACAC ATATATGTGTACACATATATATACATATATGTGTACACATATATATACAT ATATGTGTACACATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(287): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TACTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0207 a0004c0004t0001g0207	1	135	0.0074	294	c.-28 others(305): Show c.-2845_-2844insGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATATATACTAACTA TATTAATAATATAGTTACTATATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2344		chr4	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(287): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTAATAATATAGT TAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00597.hp1 others(20): Show HG00099.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp1 HG01081.hp1 HG02056.hp1 HG02071.hp1 HG02132.hp1 HG02273.hp2 HG02723.hp1 HG03130.hp1 HG03239.hp2 HG03669.hp1 NA18747.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18982.hp1 NA19004.hp1 NA19011.hp2 NA19055.hp1 NA19058.hp1 NA19079.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0004c0004 a0004c0013 others(1): Show a0001c0001 a0004c0004 a0004c0013 a0010c0010	a0001c0001t0001 a0004c0004t0001 a0004c0013t0001 others(1): Show a0001c0001t0001 a0004c0004t0001 a0004c0013t0001 a0010c0010t0001	a0001c0001t0001g0071 a0001c0001t0001g0098 a0001c0001t0001g0103 others(20): Show a0001c0001t0001g0071 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0238 a0004c0004t0001g0070 a0004c0004t0001g0087 a0004c0004t0001g0094 a0004c0004t0001g0099 a0004c0004t0001g0102 a0004c0004t0001g0104 a0004c0004t0001g0114 a0004c0004t0001g0122 a0004c0004t0001g0218 a0004c0004t0001g0219 a0004c0004t0001g0223 a0004c0013t0001g0088 a0010c0010t0001g0055 a0010c0010t0001g0073	23	157	0.1465	294	c.-28 others(305): Show c.-2845_-2844insGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATATATACTAACTA TATTAATAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2344		chr4	TogoVar
GRK4_chr4_2958571_3045760	2961226	T T	TGTTAGTA others(287): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATATATACTAACTATATTATTAATATAGT TAGTATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG00621.hp2 others(4): Show HG00438.hp2 HG00609.hp2 HG00621.hp2 NA18949.hp2 NA18951.hp2 NA18957.hp2 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0063 a0001c0001t0001g0117 a0004c0004t0001g0062 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0117 a0004c0004t0001g0062 a0004c0004t0001g0064 a0004c0004t0001g0065 a0004c0004t0001g0100 a0004c0004t0001g0107	7	141	0.0496	294	c.-28 others(305): Show c.-2845_-2844insGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATATATACTAACTA TATTATTAATATAGTTAGTATATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2344		chr4	TogoVar
GRM7_chr3_6856115_7746533	7497058	T T	TAAGATTT others(287): Show TAAGATTTACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02280.hp2 NA20129.hp2 HG00140.hp1 HG02280.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0002t0003g0017 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0002t0003g0017	3	78	0.0385	294	c.151 others(315): Show c.1515+35346_1515+35347insCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGATTTACC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRTP1_chr13_113319163_113369130	113347263	T T	TGAGCGGA others(287): Show TGAGCGGATCTGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGACC TCTGTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGCGGATCTG GGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGTGGCCGAG AACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACCCGGGAGGACCTC TGTGGCTGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGG AGGACCTCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0091 a0001c0001t0001g0092	2	111	0.0180	294	c.466 others(311): Show c.466-2305_466-2304insGGCTTCAGAGGTCCTCCCGGATCTGTTC TTGGCCACAGAGGTCCTCCCGGGTCTGCTCTCTGCCACAGAGGTCCTCCC AGATCCGCTCAGCCACAGAGGTCCTCCCGGGTCTGCTCTCGGCTTCAGAG GTCCTCCCGGATCTGTTCTCGGCCACAGAGGTCCTCCCGGGTCTGTTCTC AGCCACAGAGGTCCTCCCAGATCCGCTCAGCCACAGAGGTCCTCCCGGGT CCACTGTCAGGCACAGAGGTCCTCCTGGGTCTGCTCTCAGCCACAGAGGT CCTCCCAGATCCGCTC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(287): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCGCCCCCCCTC CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	175	0.0057	294	c.427 others(311): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCC CCCTCCTCCGCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCC CCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTPBP6_chrX_299759_323796	321932	T T	TGTGGTGG others(287): Show TGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGA GGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGTAAGA CCCCATTATCTACAAAAAAAAAAAAAGAAAAGAAAAGAAAAATTAGCCGG GCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGG AGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAG ACCCCATTATCTACAAAAAAAAAAAAAAAAAAAGAAAAGCCGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0075 a0016c0023t0004g0075	1	144	0.0069	294	c.-31 others(305): Show c.-3146_-3145insGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTTGTA GATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCT CAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACC CACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTTGT AGATAATGGGGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGC TCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCAC CCACCACCAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3137		chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106815535	A A	AAAGAAAG others(287): Show AAAGAAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAAGC TCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGTAGCT GGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0239 a0001c0003t0002g0239	1	251	0.0040	294	c.120 others(313): Show c.1207-5058_1207-5057insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGT GGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCAGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAGACCTTTCTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(287): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02723.hp1 HG03471.hp2 others(1): Show HG01884.hp1 HG02723.hp1 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004	a0001c0003t0002g0229 a0001c0003t0003g0233 a0001c0003t0003g0243 others(1): Show a0001c0003t0002g0229 a0001c0003t0003g0233 a0001c0003t0003g0243 a0001c0003t0004g0235	4	228	0.0175	294	c.-48 others(305): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCACA TTGTGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
HBQ1_chr16_175459_186179	186102	G G	GGAGGAAC others(287): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	294	c.49 others(305): Show c.4994_*4995insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4924		chr16	TogoVar
HCN1_chr5_45249948_45701380	45257948	C C	CAGTATGA others(287): Show CAGTATGAGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0006 a0001c0001t0024g0006	1	216	0.0046	294	c.39 others(305): Show c.3972_*3973insAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAG TACTCATACT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	8/8	3972		chr5	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(287): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	331	0.0030	294	c.234 others(309): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CGCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834780	G G	GGCTGGGA others(287): Show GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGC TGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGG AAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	389	0.0026	294	c.128 others(309): Show c.128-716_128-423dupACCTCCTCCCTCAGACCCAGGAGTCCAGGC CCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCC CAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCC TCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCTCCCAGC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSPA12A_chr10_116666192_116747566	116732328	C C	CAAAGAAA others(287): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAGA AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAACTAAGAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	46	0.0217	294	c.40+ others(311): Show c.40+10101_40+10102insCTTTCTTAGTTCTTTCTTTCTTTCTCTT TCTTTCTTTCTTTCTTTTCTCTCTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
IFFO2_chr1_18899280_18961676	18926013	A A	ATGGATGG others(287): Show ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGATGGATTGGT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	355	0.0028	294	c.666 others(311): Show c.666-4893_666-4892insACCAATCCATCCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322340	T T	TATGCAAT others(287): Show TATGCAATATATATATATGGAATATATATATGGAATATATATAGAATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATGTATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATAT ATGTATATGGAATATATACATGGAATATATATATGGAATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	303	0.0033	294	c.-27 others(305): Show c.-2716_-2715insATGCAATATATATATATGGAATATATATATGGAA TATATATAGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATATGTATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATATGTATATGGAATATATACATGGAATATATATATG GAATATATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2629		chr21	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(287): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATTAT ATATGATATATAATACATACATATATATGATATATAATACATACA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	109	0.0092	294	c.772 others(313): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATTATATATGATATATAATACATACATATATATGATATA TAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(287): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATGTATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATTAT ATATGATATATAATACATACATATATATGATATATAATACATACA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp1 HG04228.hp1 HG01255.hp1 HG01258.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0002t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0079 a0001c0002t0001g0050	3	111	0.0270	294	c.772 others(313): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATGTATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATTATATATGATATATAATACATACATATATATGATATA TAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(287): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATGTATATATTATATATCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATTAT ATATGATATATAATACATACATATATATGATATATAATACATACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	109	0.0092	294	c.772 others(313): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATGTATATATTATATATCATATATAAT ATATACATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATTATATATGATATATAATACATACATATATATGATATA TAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(287): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATGTATATATTATATATCATATATAATATATGTATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATTAT ATATGATATATAATACATACATATATATGATATATAATACATACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	109	0.0092	294	c.772 others(313): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATGTATATATTATATATCATATATAAT ATATGTATATATTATATATCATATATAATATATACATATATTATATATCA TATATAATATATACATATATTATATATCATATATAATATATACATATATT ATATATCATATATTATATATGATATATAATACATACATATATATGATATA TAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(287): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCAC TCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTC AAGCTCTTCTGCACACACACACACAGGTCACCCCCCTGAGCTCCACGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCAC TCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	179	0.0056	294	c.130 others(313): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGGTGACCTG TGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTG TGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTG TGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGCCC others(287): Show ACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGC AGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCA GGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCAG GTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGGCAGG TCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG01891.hp1 HG02280.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0089 a0001c0008t0005g0090 a0001c0008t0005g0089 a0001c0008t0005g0090	2	94	0.0213	294	c.382 others(313): Show c.382+10744_382+10745insCCCCTGTATACAGGAGGAGCTGTGCG TCCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGT CCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTC CCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCC CCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCC CTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCC TCCAAGGATAAAGGCAGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNMB2_chr3_178531436_178849429	178758767	G G	GAGATATA others(287): Show GAGATATATATATATATATCTCCTCTAGGAGAGATATATATATATATATA TATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGA GATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAG GAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAG AGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATATATA TCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	80	0.0125	294	c.-67 others(313): Show c.-67-48576_-67-48575insAGATATATATATATATATCTCCTCTA GGAGAGATATATATATATATATATATATCTCCAAGAGGAGATATATATAT ATATATATATATCTCCTCTAGGAGATATATATATATATCTCCAAGAGGAG ATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGG AGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGA GGAGATATATATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATCTCCAAGAGGGATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437094	T T	TATATACA others(287): Show TATATACATAAATATATTTATATATAAATATATATTTTTATATATATTTA TGTATATATTTATATATATTTATATATATACATAAATATATATTTATATA TATTTATATATATACATAAATATATATTTATATATAAATATATATTTATA TATTTATATATATTTATGTATATTTATATACATAAATATATATTTATATA TATTTATATATATTTATATACATAAATATATATTTATATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATACATAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02258.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0090 a0001c0007t0001g0091 a0001c0001t0001g0090 a0001c0007t0001g0091	2	91	0.0220	294	c.639 others(311): Show c.639-7338_639-7337insTTATGTATATAAATATATATAAATATAT ATTTATGTATATAAATATATATAAATATATATAAATATATATTTATGTAT ATAAATATATATAAATATATATAAATATATATTTATGTATATAAATATAC ATAAATATATATAAATATATAAATATATATTTATATATAAATATATATTT ATGTATATATATAAATATATATAAATATATATTTATGTATATATATAAAT ATATATAAATATATACATAAATATATATAAAAATATATATTTATATATAA ATATATTTATGTATAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(287): Show GGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAGTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	304	0.0033	294	c.-22 others(305): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAGTCTGCAGAGATGGGGCGACGGGGGAAT CTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KIF26A_chr14_104133587_104185894	104153575	C C	CGAGGTGC others(287): Show CGAGGTGCCTCCTGGCCCCAGAACCGAACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGC CCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGC TGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCC ACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	361	0.0028	294	c.735 others(311): Show c.735+1135_735+1136insACCGAACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGC CCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGC TGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCC ACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGT GCCTCCTGGCCCCAGA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGAACCCC others(287): Show CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTCCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGA GCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02976.hp2 HG02257.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0050 a0001c0017 a0002c0050	a0001c0017t0007 a0002c0050t0007 a0001c0017t0007 a0002c0050t0007	a0001c0017t0007g0151 a0002c0050t0007g0153 a0001c0017t0007g0151 a0002c0050t0007g0153	2	111	0.0180	294	c.735 others(311): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTCCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCC CAGAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTG AACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGAACCCC others(287): Show CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGA GCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0126 a0002c0013t0002g0126	1	110	0.0091	294	c.735 others(311): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCTGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCTG AACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KNDC1_chr10_133155219_133231412	133223016	C C	CGTGTGTG others(287): Show CGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGAG AGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATC CAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGAGCCCATCCAGCCA TGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTC CCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	307	0.0033	294	c.501 others(313): Show c.5019-1546_5019-1545insAGAGCCCATCCAGGCATGCTCTTCCC GGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGTGAGAGCCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTGTG TGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCC CATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGG CATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCT TCCCGGCGTGTGTGTGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(287): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0367 a0001c0001t0003g0367	1	354	0.0028	294	c.997 others(311): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
KRT75_chr12_52419070_52439371	52438135	C C	CCCAGGGG others(287): Show CCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGG CCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGT GGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGG TAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGGTAATTCTG TTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGAC ACTCCAGGGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0080 a0003c0003t0001g0080	1	334	0.0030	294	c.-38 others(305): Show c.-3832_-3831insAGTGTCCACAACAGAATTACCTTCTCCACACTCG GCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGG AGTGTCCACAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCA CAACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAA TTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTTC TCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACT CGGCCCCTGG	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3765		chr12	TogoVar
KRT75_chr12_52419070_52439371	52438142	G G	GCCGAGTG others(287): Show GCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTG TGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAG GTAATTCTGTTGTGGACACTCCAGGGGCCGAGTGTGGAGAAGATAATTCT GTTGTGGACACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGTGGA CACTCCAGGGACCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAG GGGCCGAGTGTGGAGAAGGTAATTCTGTTGTGGACACTCCAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA19060.hp1 NA18943.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0073 a0001c0002t0002g0001 a0001c0002t0002g0073	2	306	0.0065	294	c.-38 others(305): Show c.-3839_-3838insTCCCTGGAGTGTCCACAACAGAATTACCTTCTCC ACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGG TCCCTGGAGTGTCCACAACAGAATTACCTTCTCCACACTCGGTCCCTGGA GTGTCCACAACAGAATTATCTTCTCCACACTCGGCCCCTGGAGTGTCCAC AACAGAATTACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAAT TACCTTCTCCACACTCGGCCCCTGGAGTGTCCACAACAGAATTACCTTCT CCACACTCGG	KRT75	ENSG00000170454.6	transcript	ENST00000252245.6	protein_coding		3772		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174471	T T	TATATATC others(287): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATATCCATATA TATGGATATATATATATCCATATATATCTATCCATATATATATCCATATA TATCTATCCATATATATATCCATATATCTATCCATATATATATCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02132.hp2 NA18946.hp1 others(4): Show HG02074.hp1 HG02132.hp2 NA18946.hp1 NA18949.hp2 NA18967.hp1 NA18971.hp2 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0208 a0002c0002t0002g0221 others(4): Show a0002c0002t0002g0201 a0002c0002t0002g0208 a0002c0002t0002g0221 a0002c0002t0002g0224 a0002c0002t0002g0229 a0002c0002t0002g0238 a0002c0002t0002g0277	7	224	0.0313	294	c.126 others(311): Show c.126-1698_126-1697insGGATATATATATGGATAGATATATGGAT ATATATATGGATAGATATATATGGATATATATATGGATAGATATATATGG ATATATATATATCCATATATATGGATATATATATATGGATATATATATGG ATATATATATATGGATATATATATGGATATATATATATGGATATATATAT GGATATATATATATGGATATATATATGGATATATATATGGATATATATAT ATGGATATATATATGGATATATATATATGGATATATATATATGGATATAT ATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LMF1_chr16_848634_975984	955022	G G	GGTCTGTG others(287): Show GGTCTGTGCACACACACACACACACATCTAAGTGAACCAGACACGTTACA TAAAATGTGTGCCTGCAGCAGATGCGGTGTGTGCATACACACACACACAT CTAAGTGAATCAGACACGTTACATAAAATGCGTGCCCGCAGCAGACGTGG TGTGTGCATACACACACACACATCTAAGTAAACCAGACACGTTACATAAA ATGCGTGCCTGCTGCAGACGTGGTGTGTGTATACACACACACACATCTAA GTAAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA20129.hp2 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0284 a0001c0006t0001g0283 a0001c0002t0001g0284 a0001c0006t0001g0283	2	264	0.0076	294	c.194 others(309): Show c.194-357_194-356insTACGTCTGCTGCAGGCACGCATTTTATGTA ACGTGTCTGGTTTACTTAGATGTGTGTGTGTGTATACACACACCACGTCT GCAGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGT GTGTGTATGCACACACCACGTCTGCTGCGGGCACGCATTTTATGTAACGT GTCTGATTCACTTAGATGTGTGTGTGTGTATGCACACACCGCATCTGCTG CAGGCACACATTTTATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGT GTGTGTGCACAGAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMX1B_chr9_126608928_126706032	126701273	A A	ATCTCCAT others(287): Show ATCTCCATTTCACTCTATCCCATTCTCCAACACTTTCATTCATTCAATCA ACCAGTATTTGCGAAGGCCCCTTAAGTGCCAGCCACCAGGCTGAGAACTG GGGATTGGCTATCCCTGCTTCAAGGAGATCGCAGTGTGATACAAGCTCAG TTGAGGTACAAAGAAACCCTGTTGCCCGGGTACCCAACCTCGTCTGGAGG GTGGAGCATCATGGAAGGCTTCCTGGAAGAAGCTACATATTAAGCTGTGA TCTGAAGTTACCTGGCATCAGGAGGACTGAGAGTGAGAAGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02145.hp2 others(3): Show HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02895.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0009 a0001c0001 a0001c0004 a0001c0009	a0001c0001t0025 a0001c0001t0058 a0001c0001t0101 others(3): Show a0001c0001t0025 a0001c0001t0058 a0001c0001t0101 a0001c0001t0169 a0001c0004t0180 a0001c0009t0102	a0001c0001t0025g0084 a0001c0001t0058g0089 a0001c0001t0101g0170 others(3): Show a0001c0001t0025g0084 a0001c0001t0058g0089 a0001c0001t0101g0170 a0001c0001t0169g0152 a0001c0004t0180g0083 a0001c0009t0102g0167	6	340	0.0176	294	c.48 others(305): Show c.4822_*4823insTCTCCATTTCACTCTATCCCATTCTCCAACACTT TCATTCATTCAATCAACCAGTATTTGCGAAGGCCCCTTAAGTGCCAGCCA CCAGGCTGAGAACTGGGGATTGGCTATCCCTGCTTCAAGGAGATCGCAGT GTGATACAAGCTCAGTTGAGGTACAAAGAAACCCTGTTGCCCGGGTACCC AACCTCGTCTGGAGGGTGGAGCATCATGGAAGGCTTCCTGGAAGAAGCTA CATATTAAGCTGTGATCTGAAGTTACCTGGCATCAGGAGGACTGAGAGTG AGAAGGGGTG	LMX1B	ENSG00000136944.19	transcript	ENST00000373474.9	protein_coding		242		chr9	TogoVar
LOC128125818_chr4_6059977_6075162	6067579	G G	GCACTCAA others(287): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCAC TCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTC AAGCTCTTCTGCACACACACACACAGGTCACCCCCCTGAGCTCCACGTTC ACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTTCAC TCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03831.hp2 HG02055.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0072 a0001c0001t0001g0073	2	357	0.0056	294	c.106 others(311): Show c.106+2477_106+2478insAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGTG TGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTGTG CAGAAGAGCTTGAGTG	LOC128125818	ENSG00000284684.1	transcript	ENST00000636216.1	protein_coding	1/1			chr4	TogoVar
LUC7L_chr16_183990_234449	186102	G G	GGAGGAAC others(287): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	271	0.0037	294	c.30 others(305): Show c.3095_*3096insTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTT CCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2887		chr16	TogoVar
LUZP2_chr11_24492053_25087638	24774678	A A	ATATTCTA others(287): Show ATATTCTATATATATGTAGAATATATATAGAATATATTCTATATATATGT AGAATATATATAGAATATATTCTATATATATGTAGAATATATATAGAATA TATTCTATATATATGTAGAATATATATAGAATATATTCTATATATATGTA GAATATATATAGAATATATTCTATATATATGTAGAATATATATAGAATAT ATTCTATATATATGTAGAATATATATAGAATATATTCTATATATATGTAG AATATATATAGAATATATTCTATATATATGTAGAATATATTCTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	104	0.0096	294	c.396 others(313): Show c.396+11370_396+11371insTATTCTATATATATGTAGAATATATA TAGAATATATTCTATATATATGTAGAATATATATAGAATATATTCTATAT ATATGTAGAATATATATAGAATATATTCTATATATATGTAGAATATATAT AGAATATATTCTATATATATGTAGAATATATATAGAATATATTCTATATA TATGTAGAATATATATAGAATATATTCTATATATATGTAGAATATATATA GAATATATTCTATATATATGTAGAATATATATAGAATATATTCTATATAT ATGTAGAATATATTCTAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11			chr11	TogoVar
MAEA_chr4_1284891_1345137	1317145	C C	CCACCCCA others(287): Show CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCAC CCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC CCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	321	0.0031	294	c.456 others(311): Show c.456+1574_456+1575insCGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCCCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCC ACACTCCAGACTCACC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317182	C C	CCACCCGG others(287): Show CCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCA CCCCCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCAC CCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACA CTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACC CGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	370	0.0027	294	c.456 others(311): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCCCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCC CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar

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