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
FRMD4A_chr10_13638706_14335924	13714022	A A	ATACATAT others(32): Show ATACATATATAAAATATACATATATATAAAATATATATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02897.hp1 NA19074.hp1 HG01255.hp1 HG02897.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0007 a0002c0004t0010 a0001c0001t0002 a0001c0001t0007 a0002c0004t0010	a0001c0001t0002g0034 a0001c0001t0007g0015 a0002c0004t0010g0076 a0001c0001t0002g0034 a0001c0001t0007g0015 a0002c0004t0010g0076	3	131	0.0229	39	c.760 others(56): Show c.760-6910_760-6909insAAATATATATTTTATATATATGTATATT TTATATATGTA	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24			chr10	TogoVar
FRMD5_chr15_43865764_44200271	43999953	C C	CATATATA others(32): Show CATATATATATATATATATATATGCCATGCATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	112	0.0089	39	c.103 others(58): Show c.103-75645_103-75644insATATATATATGCATGGCATATATATA TATATATATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
FRMPD4_chrX_12133473_12729523	12193774	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	106	0.0094	39	c.41+ others(56): Show c.41+54762_41+54763insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAA	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
FRMPD4_chrX_12133473_12729523	12305725	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0059 a0001c0006t0001g0059	1	32	0.0313	39	c.41+ others(58): Show c.41+166735_41+166736insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chrX	TogoVar
FSCN2_chr17_81523377_81542130	81531264	G G	GTGGTGGT others(32): Show GTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0063 a0001c0002t0005g0063	1	430	0.0023	39	c.826 others(56): Show c.826+1912_826+1913insGTGATGGTGATGATGGTGGTGATGGTGG TGGTGATGGTG	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
FSCN2_chr17_81523377_81542130	81531495	A A	ATGGTGAT others(32): Show ATGGTGATGATGATGATAGTGATGGTGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0073 a0001c0002t0002g0073	1	430	0.0023	39	c.826 others(56): Show c.826+2146_826+2147insATGATGATAGTGATGGTGGTGATGGTGA TGGTGGTGATG	FSCN2	ENSG00000186765.12	transcript	ENST00000417245.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr17	TogoVar
FSTL4_chr5_133191455_133617541	133377361	C C	CTAAGAGA others(32): Show CTAAGAGAACTGGGCCATTATGCCCACACCAAACTCTGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG03130.hp2 others(2): Show HG02615.hp1 HG02896.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0007 a0001c0001t0001 a0001c0001t0003 a0001c0003t0007	a0001c0001t0001g0110 a0001c0001t0001g0159 a0001c0001t0003g0151 others(2): Show a0001c0001t0001g0110 a0001c0001t0001g0159 a0001c0001t0003g0151 a0001c0001t0003g0155 a0001c0003t0007g0154	5	174	0.0287	39	c.409 others(58): Show c.409+23338_409+23376dupTCCAGAGTTTGGTGTGGGCATAATGG CCCAGTTCTCTTA	FSTL4	ENSG00000053108.18	transcript	ENST00000265342.12	protein_coding	4/15			chr5	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(32): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	79	0.0127	39	c.-22 others(60): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
G2E3_chr14_30554158_30625064	30588256	G G	GATTATTT others(32): Show GATTATTTTATTTTTTTCTATAAAAAGTAAAATAAAAAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02280.hp2 others(8): Show HG01891.hp2 HG02055.hp2 HG02280.hp2 HG02615.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 others(7): Show a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0013g0045 a0001c0001t0013g0046	11	354	0.0311	39	c.136 others(56): Show c.136-1117_136-1079dupTTTTTTTCTATAAAAAGTAAAATAAAAA GTATTATTTTA	G2E3	ENSG00000092140.16	transcript	ENST00000206595.11	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAB4_chr22_16956936_17013222	17007488	G G	GTTATGGT others(32): Show GTTATGGTGAGTGTTATGCTTTAGTTCTTTTTTGGTTTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0079 a0001c0005t0005g0079	1	428	0.0023	39	c.174 others(54): Show c.174+452_174+453insACAAACCAAAAAAGAACTAAAGCATAACAC TCACCATAA	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	1/9			chr22	TogoVar
GABRA3_chrX_152161234_152456315	152182557	A A	ATATATAT others(32): Show ATATATATACTATATATGCATATATAGTGTATATACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp1 HG01175.hp2 others(5): Show HG00099.hp2 HG01081.hp1 HG01175.hp2 HG01256.hp1 HG02602.hp1 HG02735.hp1 HG03654.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0050 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0135 a0001c0001t0001g0196	8	202	0.0396	39	c.114 others(58): Show c.1143+7134_1143+7172dupGTGTGTATATACACTATATATGCATA TATAGTATATATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA4_chr4_46913900_46998581	46971863	A A	AACACCCC others(32): Show AACACCCCCGAGTTCAAGCATGTTTTACTGGCATTTAGAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02293.hp1 NA18999.hp2 others(1): Show HG01070.hp2 HG02293.hp1 NA18999.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0242 others(1): Show a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0242 a0002c0002t0003g0085	4	368	0.0109	39	c.722 others(54): Show c.722-629_722-628insGTCTAAATGCCAGTAAAACATGCTTGAACT CGGGGGTGT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	6/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46105791	T T	TAGATGAT others(32): Show TAGATGATAGATAGATGGATGGGTAGATAGATAGATGATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02135.hp2 NA18971.hp2 HG02083.hp1 HG02135.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0004t0001g0222 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0004t0001g0222	3	79	0.0380	39	c.105 others(56): Show c.105-8443_105-8442insTATCATCTATCTATCTACCCATCCATCT ATCTATCATCT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG3_chr15_26966181_27546984	27145603	C C	CTCTATCT others(32): Show CTCTATCTATCTATCTATCTATCTATCTATCTATCATCTA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	36	0.0278	39	c.270 others(60): Show c.270+118816_270+118817insATCTATCTATCTATCTATCTATCT ATCTATCTATCTATC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GADL1_chr3_30721197_30899661	30727138	T T	TACTATAC others(32): Show TACTATACACACACATATGTATGTGTGTGTATATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0013 a0001c0001t0031g0013	1	280	0.0036	39	c.11 others(50): Show c.1103_*1104insGTATATATATACACACACATACATATGTGTGTGT ATAGT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	15/15	1103		chr3	TogoVar
GAK_chr4_844277_937316	926873	C C	CACCCCCT others(32): Show CACCCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	372	0.0027	39	c.145 others(56): Show c.145+5169_145+5170insTGCGGGGCAGTGCGGAGCGCAGGTGAGC GGGGAGGGGGT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805214	T T	TCCCCCTC others(32): Show TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02293.hp1 HG00735.hp1 HG02293.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0202 a0005c0005t0001g0007 a0003c0003t0001g0202 a0005c0005t0001g0007	2	241	0.0083	39	c.10 others(50): Show c.1048_*1049insCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		928		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805262	G G	GCCCAGGA others(32): Show GCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	250	0.0040	39	c.10 others(50): Show c.1096_*1097insCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCC CTCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		976		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805275	C C	CGCAGGCC others(32): Show CGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	224	0.0045	39	c.11 others(50): Show c.1109_*1110insGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAA CCTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		989		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805392	C C	CGCAGGCC others(32): Show CGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	247	0.0040	39	c.12 others(50): Show c.1226_*1227insGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAA CCTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1106		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805603	C C	CCCTCAAC others(32): Show CCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	307	0.0033	39	c.14 others(50): Show c.1437_*1438insCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCC TCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1317		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805803	A A	AACCTCTG others(32): Show AACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAACCCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	170	0.0059	39	c.16 others(50): Show c.1637_*1638insACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAACC CAGAG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1517		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806262	T T	TTCCCTCC others(32): Show TTCCCTCCCCCCTCAACCCAGAGACCTCCGCAGGCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	163	0.0061	39	c.20 others(50): Show c.2096_*2097insTCCCTCCCCCCTCAACCCAGAGACCTCCGCAGGC CACCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1976		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807086	C C	CTCCGCAG others(32): Show CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	301	0.0033	39	c.29 others(50): Show c.2920_*2921insTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2800		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807200	A A	AACCTCTG others(32): Show AACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0013	1	148	0.0068	39	c.30 others(50): Show c.3034_*3035insACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2914		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807245	C C	CGCAGGCC others(32): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0097	1	248	0.0040	39	c.30 others(50): Show c.3079_*3080insGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA TGTCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2959		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807610	C C	CTCCCTCC others(32): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	310	0.0032	39	c.34 others(50): Show c.3444_*3445insTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3324		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807635	C C	CTCCGCAG others(32): Show CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	298	0.0034	39	c.34 others(50): Show c.3469_*3470insTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGATG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3349		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807899	C C	CCCCTCAG others(32): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	296	0.0034	39	c.37 others(50): Show c.3733_*3734insCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3613		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241808075	G G	GGCAGGCC others(32): Show GGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	288	0.0035	39	c.39 others(50): Show c.3909_*3910insGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3789		chr2	TogoVar
GAL3ST4_chr7_100154244_100173617	100172599	G G	GAGACTAC others(32): Show GAGACTACAGGCGCCTGCCACCATGCCGGCTAATTTTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	400	0.0025	39	c.-42 others(50): Show c.-4281_-4243dupACAAAAATTAGCCGGCATGGTGGCAGGCGCCTGT AGTCT	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		3983		chr7	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	136	0.0074	39	c.267 others(56): Show c.267-7163_267-7162insATATATATATATATATATATATATATAT ATACATATATT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(32): Show ATATATATATATATGTATATATATATATATATACATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG02132.hp1 others(6): Show HG00323.hp2 HG00733.hp2 HG02132.hp1 HG02647.hp1 HG02970.hp1 HG03834.hp2 NA18944.hp1 NA18970.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0019 a0001c0001t0031	a0001c0001t0002g0047 a0001c0001t0002g0092 a0001c0001t0002g0099 others(6): Show a0001c0001t0002g0047 a0001c0001t0002g0092 a0001c0001t0002g0099 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0009g0112 a0001c0001t0019g0096 a0001c0001t0019g0097 a0001c0001t0031g0084	9	144	0.0625	39	c.267 others(56): Show c.267-7163_267-7162insATATATATATATGTATATATATATATAT ATACATATATT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0174 a0001c0002t0004g0174	1	230	0.0043	39	c.967 others(56): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	247	0.0040	39	c.634 others(58): Show c.634+13199_634+13200insATATATATATATATATATATATATAT ATATATATATATT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	25	0.0400	39	c.239 others(58): Show c.239-70431_239-70430insATATATATATATATATATATATATAT ATATATTTTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT8_chr12_4715400_4777726	4768881	T T	TACTTTGT others(32): Show TACTTTGTAGACCACAACTAACAAATTAATTTACTAAAAG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0119 a0002c0002t0002g0119	1	336	0.0030	39	c.176 others(58): Show c.1761+3335_1761+3336insACTTTGTAGACCACAACTAACAAATT AATTTACTAAAAG	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	10/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132311265	G G	GGTGCCAA others(32): Show GGTGCCAAATAGAAAACTCTCCCTCCATAAACAGGGGTGA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0018 a0001c0005t0001g0018	1	182	0.0055	39	c.238 others(58): Show c.238+17700_238+17701insTCACCCCTGTTTATGGAGGGAGAGTT TTCTATTTGGCAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALR1_chr18_77244848_77282900	77259178	G G	GTGGTCAT others(32): Show GTGGTCATAGTGGTGATGGTGGTGGTGATGGTGGTGATGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18950.hp1 NA18979.hp1 others(1): Show HG04204.hp2 NA18950.hp1 NA18979.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0044 a0001c0001t0094 a0001c0001t0028 a0001c0001t0044 a0001c0001t0094	a0001c0001t0028g0046 a0001c0001t0044g0040 a0001c0001t0044g0074 others(1): Show a0001c0001t0028g0046 a0001c0001t0044g0040 a0001c0001t0044g0074 a0001c0001t0094g0285	4	343	0.0117	39	c.732 others(56): Show c.732+2959_732+2960insCATAGTGGTGATGGTGGTGGTGATGGTG GTGATGTTGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAP43_chr3_115618510_115726483	115698134	A A	ATATATTA others(32): Show ATATATTAAATAATATATATATTAAATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA21309.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0099 a0001c0002t0001g0102	2	350	0.0057	39	c.628 others(58): Show c.628+21529_628+21530insTAAATAATATATATATTAAATATATA TTATATATTATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698212	A A	AAATATAT others(32): Show AAATATATAATATATAATATATTATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0300 a0001c0001t0002g0300	1	99	0.0101	39	c.628 others(58): Show c.628+21623_628+21624insTATATATAAAATATATATAATATATA ATATATAATATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698229	T T	TATATAAT others(32): Show TATATAATATATATAAAATATATATAATATATAATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	350	0.0029	39	c.628 others(58): Show c.628+21624_628+21625insATATATATAAAATATATATAATATAT AATATATAATATA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125293618	T T	TTTATATA others(32): Show TTTATATATATTATATATATATAATATAAAAATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp2 others(58): Show HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01515.hp1 HG01517.hp1 HG02004.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02135.hp1 HG02258.hp2 HG02698.hp2 HG03017.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp2 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18991.hp2 NA18999.hp1 NA19000.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0001c0012 others(1): Show a0001c0001 a0001c0009 a0001c0012 a0003c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0030 a0001c0001t0035 a0001c0009t0001 a0001c0012t0001 a0003c0007t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(58): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0005g0306 a0001c0001t0010g0213 a0001c0001t0010g0253 a0001c0001t0010g0263 a0001c0001t0013g0190 a0001c0001t0022g0280 a0001c0001t0023g0301 a0001c0001t0030g0141 a0001c0001t0035g0304 a0001c0009t0001g0189 a0001c0012t0001g0285 a0003c0007t0001g0300 a0003c0007t0001g0307	61	242	0.2521	39	c.-14 others(58): Show c.-149-1829_-149-1791dupTATATATATATAATATAAAAATATAT ATATTATATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARIN5B_chr19_55349908_55368260	55361662	T T	TCAGACCC others(32): Show TCAGACCCAGGAGAGTTCAGACTGCCAGCCCTTCACCCTC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0029 a0029	a0029c0025 a0029c0025	a0029c0025t0001 a0029c0025t0001	a0029c0025t0001g0096 a0029c0025t0001g0096	1	354	0.0028	39	c.565 others(54): Show c.565-229_565-228insGAGGGTGAAGGGCTGGCAGTCTGAACTCTC CTGGGTCTG	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	3/10			chr19	TogoVar
GAS6_chr13_113815549_113869076	113826385	G G	GGCCTCGC others(32): Show GGCCTCGCAGGCACCTTCTCTCCCCAGCCTCCCGGCGCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	139	0.0072	39	c.147 others(56): Show c.1477+610_1477+611insTGGCGCCGGGAGGCTGGGGAGAGAAGGT GCCTGCGAGGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113826449	A A	AGCCTCCC others(32): Show AGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	72	0.0139	39	c.147 others(56): Show c.1477+508_1477+546dupCGGGGAGAGAAGGTGCCTGCGAGGCCGG CGCCGGGAGGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113826496	G G	GGCGCCGG others(32): Show GGCGCCGGCCTTGCAGGCACCTGCTCTCCCCGGCCTCCCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	140	0.0071	39	c.147 others(56): Show c.1477+499_1477+500insTGGGAGGCCGGGGAGAGCAGGTGCCTGC AAGGCCGGCGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113826622	C C	CTCGCAGG others(32): Show CTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCACTGGCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	138	0.0072	39	c.147 others(56): Show c.1477+373_1477+374insAGCCAGTGCCGGGAGGCCGGGGAGAGAA GGTGCCTGCGA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113826652	G G	GGCACTGG others(32): Show GGCACTGGCCTCGCAGGCACCTTCTCTCCCCAGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0008 a0001c0015t0001g0008	1	125	0.0080	39	c.147 others(56): Show c.1477+343_1477+344insTGGGAGGCTGGGGAGAGAAGGTGCCTGC GAGGCCAGTGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113838522	T T	TGGAGCAG others(32): Show TGGAGCAGGGAGGGAGCCCGGGGGTGCACAGCCCAGCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp2 HG04115.hp1 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0023 a0001c0003t0001g0005 a0001c0003t0001g0023	2	142	0.0141	39	c.467 others(54): Show c.467-370_467-332dupGGGGCTGGGCTGTGCACCCCCGGGCTCCCT CCCTGCTCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	5/14			chr13	TogoVar

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