Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DOP1A_chr6_83062671_83173471	83145181	G G	GTATATAT others(223): Show GTATATATATATAATATATATATAATATATATAATATGTATATATAATAT ATATATAATATGTATATATAATATATATATATAATATATATATAATATAT ATATAATATATATATAATATATATATAATATATATATTTAAAAGTATATA TATATAATATATATATATAATATATATATAATATATATATATAATATATA TATATAATATATATATAATATATATATAATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0020 a0006c0006t0004g0021 a0006c0006t0004g0020 a0006c0006t0004g0021	2	298	0.0067	230	c.554 others(247): Show c.5542-333_5542-332insTAATATATATATAATATATATAATATGT ATATATAATATATATATAATATGTATATATAATATATATATATAATATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATTT AAAAGTATATATATATAATATATATATATAATATATATATAATATATATA TATAATATATATATATAATATATATATAATATATATATAATATATATATA TA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPH1_chr17_2025153_2048898	2035402	C C	CGGTGGGG others(223): Show CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTG AGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGC CCTGCCTGCGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCT GTGGTGGGGAGGGGGTGGGGGCCCTGCCTAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0105 a0003c0004t0001g0105	1	392	0.0026	230	c.279 others(245): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGA GGGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCC CTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCCTATGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
EHMT1_chr9_137614005_137841127	137716247	G G	GGTGTCAT others(223): Show GGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	170	0.0059	230	c.86- others(243): Show c.86-376_86-375insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ELOVL6_chr4_110040846_110203615	110084137	G G	GATATTTA others(223): Show GATATTTACATGTTATATATCATATATATCATATATATGATATATATGAT ATATAACATATATATGATATATATGATATATAACATATATGTGATGATAT ATATGATATATATAACATATATGTGATGATATATATGATATATATAACAT ATATATGATATATATGATATATACATGTTATATATCATATATATCATATA TATGATATATATGATATATATGATATATAAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01261.hp2 HG01981.hp1 others(2): Show HG01169.hp1 HG01261.hp2 HG01981.hp1 HG02040.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0001t0001 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0275 a0001c0001t0003g0196 a0001c0001t0019g0124 others(2): Show a0001c0001t0001g0275 a0001c0001t0003g0196 a0001c0001t0019g0124 a0001c0001t0019g0229 a0001c0001t0019g0328	5	338	0.0148	230	c.221 others(249): Show c.221+21359_221+21360insGTTATATATCATATATATCATATATA TCATATATATGATATATATGATATATAACATGTATATATCATATATATCA TATATATGTTATATATATCATATATATCATCACATATATGTTATATATAT CATATATATCATCACATATATGTTATATATCATATATATCATATATATGT TATATATCATATATATCATATATATGATATATATGATATATAACATGTAA ATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ENOX1_chr13_43208130_43791972	43616103	G G	GATAGATA others(223): Show GATAGATATCTATAGATATATAGATATCTATATAGATAGATATCTATAGA TATATAGATATCTATATAGATAGATATCTATATATATAGATATCTATATA GATAGATATCTATATATCTATAGATATCTATATAGATAGATATCTATATA TAGATATCTATATAGATAGATATCTATATATCTATAGATATCTATATAGA TAGATATCTATATATCTATAGATATCTATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02523.hp1 NA18973.hp1 others(3): Show HG02071.hp2 HG02523.hp1 NA18973.hp1 NA18978.hp1 NA19004.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 others(1): Show a0001c0001t0003 a0001c0001t0010 a0001c0002t0001 a0001c0002t0006	a0001c0001t0003g0059 a0001c0001t0010g0037 a0001c0002t0001g0029 others(3): Show a0001c0001t0003g0059 a0001c0001t0010g0037 a0001c0002t0001g0029 a0001c0002t0006g0153 a0001c0002t0006g0154 a0001c0002t0006g0181	6	188	0.0319	230	c.-21 others(251): Show c.-219+51375_-219+51376insATATAGATATCTATAGATATATAG ATATCTATCTATATAGATATCTATAGATATATAGATATCTATCTATATAG ATATCTATATATAGATATCTATCTATATAGATATCTATAGATATATAGAT ATCTATCTATATAGATATCTATATATATAGATATCTATCTATATAGATAT CTATATATCTATAGATATCTATCTATATAGATATCTATATATCTATAGAT ATCTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616103	G G	GATAGATA others(223): Show GATAGATATCTATAGATATATAGATATCTATATAGATAGATATCTATAGA TATATAGATATCTATATAGATAGATATCTATCTATATAGATATCTATATA GATAGATATCTATATATCTATAGATATCTATATAGATAGATATCTATATA TAGATATCTATATAGATAGATATCTATATATCTATAGATATCTATATAGA TAGATATCTATATATCTATAGATATCTATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0015 a0002c0007t0003g0015	1	188	0.0053	230	c.-21 others(251): Show c.-219+51375_-219+51376insATATAGATATCTATAGATATATAG ATATCTATCTATATAGATATCTATAGATATATAGATATCTATCTATATAG ATATCTATATATAGATATCTATCTATATAGATATCTATAGATATATAGAT ATCTATCTATATAGATATCTATATAGATAGATATCTATCTATATAGATAT CTATATATCTATAGATATCTATCTATATAGATATCTATATATCTATAGAT ATCTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ERBIN_chr5_65921575_66087546	66018586	T T	TTATATTA others(223): Show TTATATTATATAATATATATTATATTATATAATATATATTATATATTATA ATATATAATATATATTATATAATATATATTATATAATATATTATATAATA TATATTATATATTATATAATATATAATATATATTATATAATATATAATAT ATATTATATATTATATAATATATAATATATATTATATATTATATAATATA TAATATATATTATATATTATATAATATATAA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0040 a0001c0001t0009g0040	1	306	0.0033	230	c.534 others(247): Show c.534-2731_534-2730insTATATAATATATATTATATTATATAATA TATATTATATATTATAATATATAATATATATTATATAATATATATTATAT AATATATTATATAATATATATTATATATTATATAATATATAATATATATT ATATAATATATAATATATATTATATATTATATAATATATAATATATATTA TATATTATATAATATATAATATATATTATATATTATATAATATATAATAT AT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	659649	G G	GCATCCTG others(223): Show GCATCCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGAGCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCATCCTG GGGAGGGGGTGACCATCGAGATCTCCAGGGTGCACTGACCATCCTGGGGA GGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAGGGG GTGACCATCGAGATCTCCGGTGTGCACTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0239 a0005c0007t0001g0239	1	378	0.0027	230	c.49 others(241): Show c.4953_*4954insGTCAGTGCACACCGGAGATCTCGATGGTCACCCC CTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCC CCAGGATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAG GATGGTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGATG CTCAGTGCACCCTGGAGATCTCGATGGTCACCCCCTCCCCAGGATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4550		chr8	TogoVar
EXOC2_chr6_480154_698139	501534	A A	ATATATTA others(223): Show ATATATTATATATCTATATATATTATATATATATTATATATCTATATATA TTATATATATATTATATATATCTATATATATTATATATATATTATATATA TCTATATATATTATATATATATTATATATATCTATATATATTATATATAT ATTATATATATCTATATATATTATATATATATTATATATATCTATATATA TTATATATATATTATATATATCTATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	272	0.0037	230	c.238 others(249): Show c.2381-1835_2381-1834insATATATATAGATATATATAATATATA TATAATATATATAGATATATATAATATATATATAATATATATAGATATAT ATAATATATATATAATATATATAGATATATATAATATATATATAATATAT ATAGATATATATAATATATATATAATATATATAGATATATATAATATATA TATAATATATATAGATATATAATATATATATAATATATATAGATATATAA TATA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC3_chr5_438176_472290	467629	G G	GGGCGCCC others(223): Show GGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCC TCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTC CCCTCATGTCTGACATCCCCTCAGCCTGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0079 a0001c0002t0019g0079	1	418	0.0024	230	c.73 others(239): Show c.731_*732insGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCT CAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGC CTAGAGGGTGCCCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGG ATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGG TGCCCTCCTGGTCCCCTCATGTCTGACATCCCCTCAGCCTGGAT	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		340		chr5	TogoVar
FARP1_chr13_98138094_98460176	98198909	C C	CCTGCTCC others(223): Show CCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTCCGCTCCC CCTCCCTGCTTCCCCCCCGCCCCTCCCCGCTCCCCCACTCTGCCCCTCCC CGCCCCCCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCC TCTGCCCCTCCCCGCTTCCCCTTCTGCCCCTCCCCGCTCCCGCTGCTCCC TCCCCCTCCATCCCTTCCCCCTCCCCCTCCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG03225.hp1 others(1): Show HG02809.hp1 HG02886.hp2 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0015 a0001c0001t0057 a0001c0002t0052 others(1): Show a0001c0001t0015 a0001c0001t0057 a0001c0002t0052 a0001c0011t0053	a0001c0001t0015g0080 a0001c0001t0057g0073 a0001c0002t0052g0017 others(1): Show a0001c0001t0015g0080 a0001c0001t0057g0073 a0001c0002t0052g0017 a0001c0011t0053g0167	4	218	0.0184	230	c.-23 others(249): Show c.-23-14310_-23-14309insTGCTCCGCTCCCCCTCCCTGCTCCGC TCCCCCTCCCTGCTCCGCTCCCCCTCCCTGCTTCCCCCCCGCCCCTCCCC GCTCCCCCACTCTGCCCCTCCCCGCCCCCCTGCCCCTCCCCGCTTCCCCC TCTGCCCCTCCCCGCTTCCCCCTCTGCCCCTCCCCGCTTCCCCTTCTGCC CCTCCCCGCTCCCGCTGCTCCCTCCCCCTCCATCCCTTCCCCCTCCCCCT CCAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
FGD2_chr6_37000655_37034069	37012986	G G	GTGTATAC others(223): Show GTGTATACATATATATACGTATATATACACGTATATATACGTATATATAT ACGTGTATATATGTATATATACGTGTATATACACGTATATATACGTGTAT ATACACGTATATATACGTGTATATACACGTATATATACGTGTATATACAC GTATATATACGTGTATATACACGTATATATACGTGTATATACACGTATAT ATACGTGTATATACACGTATATATACGTGTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02809.hp2 HG02155.hp1 HG02809.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0015 a0002c0004t0001 a0002c0004t0015	a0002c0004t0001g0135 a0002c0004t0015g0136 a0002c0004t0001g0135 a0002c0004t0015g0136	2	430	0.0047	230	c.528 others(245): Show c.528-622_528-621insGTATACATATATATACGTATATATACACGT ATATATACGTATATATATACGTGTATATATGTATATATACGTGTATATAC ACGTATATATACGTGTATATACACGTATATATACGTGTATATACACGTAT ATATACGTGTATATACACGTATATATACGTGTATATACACGTATATATAC GTGTATATACACGTATATATACGTGTATATACACGTATATATACGTGTAT	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
FIGN_chr2_163597611_163741008	163660791	G G	GTATACAC others(223): Show GTATACACATATACATATATATGTATATACATATACATATATATGTATAT ACATATACATATATATGTATATACATATACATATATATGTATATACATAT ATATGTATATACATATACATATATATGTATATACATATATATGTATATAC ATATACATATATATGTATATACATATATATGTATACATATACATATACAT ATATATGTATATACATATACATATATATACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0243 a0001c0001t0021g0243	1	266	0.0038	230	c.26- others(247): Show c.26-48986_26-48985insTGTATATATATGTATATGTATATACATA TATATGTATATGTATATGTATACATATATATGTATATACATATATATGTA TATGTATATACATATATATGTATATACATATATATGTATATGTATATACA TATATATGTATATACATATATATGTATATGTATATACATATATATGTATA TGTATATACATATATATGTATATGTATATACATATATATGTATATGTGTA TA	FIGN	ENSG00000182263.14	transcript	ENST00000333129.4	protein_coding	2/2			chr2	TogoVar
FLT4_chr5_180596506_180654600	180634970	G G	GTGGGTGG others(223): Show GTGGGTGGGTGGGGATGCATGGAGGGAAGTATGGGTGGATGGGTGGGTGG GTGGGTGGGTGGATGGATGCATGGATGGACGGAAGTATGGGTGGATGGGT GGATGGGTGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGACGGAAGT ATGGGTGGATGGGTGGATGGGTGGGTGGGTGGGTGGGTGGATGGATGCAT GGATGGACGGAAGTATGGGTGGATGGGTGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0027 a0027	a0027c0042 a0027c0042	a0027c0042t0028 a0027c0042t0028	a0027c0042t0028g0379 a0027c0042t0028g0379	1	388	0.0026	230	c.59- others(245): Show c.59-3193_59-3192insTCCACCCATCCACCCATACTTCCGTCCATC CATGCATCCATCCACCCACCCACCCACCCACCCATCCACCCATCCACCCA TACTTCCGTCCATCCATGCATCCATCCACCCACCCACCCACCCACCCATC CACCCATCCACCCATACTTCCGTCCATCCATGCATCCATCCACCCACCCA CCCACCCACCCATCCACCCATACTTCCCTCCATGCATCCCCACCCACCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FNDC10_chr1_1593012_1605135	1595101	T T	TGAGACAG others(223): Show TGAGACAGAGACAGAGACAGAGAGGCAGACAGAGAGAGACAGACAGACAG ACAGACACAGAGAGAGCAGAACAGGGACAGACAGAGAGAGAGAGACAGAC AGAGAGCAGAACAGGGAGAGACAAAGAGACAGAGAGAGAGAGACACAGAG AGAGAGAGAGACAGAGAGAGGCAGACAGAGACAGAGAGACAGACAGACAC AGAGCAGAACAGGGAGAGACAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	230	c.42 others(241): Show c.4233_*4234insTCTCTCTCTCTGTCTCTCCCTGTTCTGCTCTGTG TCTGTCTGTCTCTCTGTCTCTGTCTGCCTCTCTCTGTCTCTCTCTCTCTC TGTGTCTCTCTCTCTCTGTCTCTTTGTCTCTCCCTGTTCTGCTCTCTGTC TGTCTCTCTCTCTCTGTCTGTCCCTGTTCTGCTCTCTCTGTGTCTGTCTG TCTGTCTGTCTCTCTCTGTCTGCCTCTCTGTCTCTGTCTCTGTCTC	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2910		chr1	TogoVar
FOXP1_chr3_70949708_71588728	71327315	G G	GAAGCAGC others(223): Show GAAGCAGCCTTCTTGGCTGCAACAGAAACGTCACTTGCAAGAGAACTGCA TTGTGTATAAATATGTACCCACAAATTATGAAATCTGACACCAATCAATT TCTTAACTTTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTTAGACAGTCTCCTTCCATTGTCCAGGCTGGAATGCAGTGGCACGATCT CCACTCACTGCAACCTCCGCCTCCTGGGTTC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18906.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0068 a0001c0001t0016 a0001c0001t0068	a0001c0001t0016g0041 a0001c0001t0068g0096 a0001c0001t0016g0041 a0001c0001t0068g0096	2	96	0.0208	230	c.-72 others(249): Show c.-72-27436_-72-27435insGAACCCAGGAGGCGGAGGTTGCAGTG AGTGGAGATCGTGCCACTGCATTCCAGCCTGGACAATGGAAGGAGACTGT CTAACACACACACACACACACACACACACACACACACACACACCAAAAGT TAAGAAATTGATTGGTGTCAGATTTCATAATTTGTGGGTACATATTTATA CACAATGCAGTTCTCTTGCAAGTGACGTTTCTGTTGCAGCCAAGAAGGCT GCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	4/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71396980	A A	ACACATAT others(223): Show ACACATATATATGTGTATATATATATATACACATATATATGTGTATATAT ATACATATATATATGTGTGTATATATATATATATACACACATATATATGT GTATATATATATACATATATATGTGTATATATATATACACATATATATGT GTATATATATATACACACACATATATATGTGTATATATATATACACATAT ATATGTGTATATATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0093 a0001c0001t0056g0093	1	96	0.0104	230	c.-16 others(251): Show c.-167-37737_-167-37736insCATATATATGTGTATATATATATA CACATATATATGTGTATATATATATACACATATATATGTGTGTGTATATA TATATACACATATATATGTGTATATATATATACACATATATATGTATATA TATATACACATATATATGTGTGTATATATATATATATACACACATATATA TATGTATATATATACACATATATATGTGTATATATATATATACACATATA TATGTG	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRAS1_chr4_78052323_78549269	78322566	T T	TTCTTTTT others(223): Show TTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03225.hp2 NA19030.hp1 others(2): Show HG02976.hp1 HG03225.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1	a0008 a0023 a0086 a0008 a0023 a0086	a0008c0006 a0023c0021 a0086c0110 a0008c0006 a0023c0021 a0086c0110	a0008c0006t0004 a0008c0006t0042 a0023c0021t0032 others(1): Show a0008c0006t0004 a0008c0006t0042 a0023c0021t0032 a0086c0110t0004	a0008c0006t0004g0172 a0008c0006t0004g0174 a0008c0006t0042g0109 others(2): Show a0008c0006t0004g0172 a0008c0006t0004g0174 a0008c0006t0042g0109 a0023c0021t0032g0177 a0086c0110t0004g0173	5	178	0.0281	230	c.213 others(249): Show c.2137+3585_2137+3586insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGT CTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	18/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGAC others(223): Show CGGGGGACGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGC GGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03579.hp1 HG02886.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	364	0.0055	230	c.-20 others(239): Show c.-204_-203insGGGGGACGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(223): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGGC GGGGGGGAGGGGATGGGCAGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	364	0.0028	230	c.-20 others(239): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGG AGGGGATGGGGGCGGGGGGGAGGGGATGGGCAGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(223): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGGC GGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(99): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02027.hp2 HG02109.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18954.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18980.hp1 NA18984.hp1 NA18995.hp2 NA18999.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0002c0005 a0004c0017	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0002c0005t0002 a0004c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(45): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0002t0001g0072 a0001c0002t0001g0113 a0001c0003t0001g0116 a0001c0004t0001g0114 a0001c0008t0001g0023 a0001c0009t0001g0012 a0001c0012t0001g0046 a0002c0005t0002g0033 a0004c0017t0001g0006	102	364	0.2802	230	c.-20 others(239): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGG AGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(223): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGCGG GGGGGAGGGGAGGGGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	364	0.0028	230	c.-20 others(239): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGG AGGGGATGGGCGGGGGGGAGGGGAGGGGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(223): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGC GGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(47): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02602.hp1 HG02630.hp1 HG02683.hp1 HG02723.hp2 HG02809.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18949.hp2 NA18962.hp2 NA18966.hp1 NA18978.hp1 NA19010.hp1 NA19057.hp2 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0016	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0015t0001 a0001c0016t0001	a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0107 others(17): Show a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0107 a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0037 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0002g0090 a0001c0003t0001g0093 a0001c0015t0001g0010 a0001c0016t0001g0020	50	364	0.1374	230	c.-20 others(239): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(223): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAG GGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGGC GGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	364	0.0028	230	c.-20 others(239): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGG AGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		124		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241806324	A A	ACCTCTGC others(223): Show ACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAACCCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	314	0.0032	230	c.21 others(241): Show c.2158_*2159insCCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGAG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2038		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807607	T T	TCCCTCCC others(223): Show TCCCTCCCCCCTCAGCCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGG ACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGG CCACCCTCCCTCCCTCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCT CCCCCCTCAACCCAGGGACCTCCGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	314	0.0032	230	c.34 others(241): Show c.3441_*3442insCCCTCCCCCCTCAGCCCAGAGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC TCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACGTCTGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACGTCTG CAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3321		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807934	C C	CTCCCCCC others(223): Show CTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0086 a0001c0001t0001g0089	2	314	0.0064	230	c.37 others(241): Show c.3768_*3769insTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3648		chr2	TogoVar
GALR1_chr18_77244848_77282900	77259174	G G	GATGGTGG others(223): Show GATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTG GTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGT GGTCATGATGGTCATGGTGGTGATGACGGTGGTGATGATGGTGGTCATGG TGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGGTCACAGTGGTGGT GATGTTGGTGTTGGTGGTGGTCATGGTGGTC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	366	0.0027	230	c.732 others(247): Show c.732+2959_732+2960insCATGGTGGCGATTGTGGTGATGGTGGTG GATGGTGGTGGTGGTCACAGTGGTGGTGGTGTTGGTGTTGGTGGTGGTCA TGGTGGTCATGGTGGTCATGATGGTCATGGTGGTGATGACGGTGGTGATG ATGGTGGTCATGGTGGCGATTGTGGTGATGGTGGTGGATGGTGGTGGTGG TCACAGTGGTGGTGATGTTGGTGTTGGTGGTGGTCATGGTGGTCATGGTG GT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATATATA others(223): Show TATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATA TATATATGTACATATATATGTTCATATATGTATGTTCATATATATATGTA CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03453.hp1 NA21309.hp2 HG03225.hp1 HG03453.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164	3	234	0.0128	230	c.143 others(247): Show c.143+2206_143+2207insGTTCATATATATATGTTCATATATATGT ATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATAT ATATATGTACATATATATGTTCATATATGTATGTTCATATATATATGTAC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT AT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683415	T T	TATATATA others(223): Show TATATATATGTACATATATATGTTCATATATGTATGTTCATATATATATG TACATATATATGTTCATATATGTATGTTCATATATATATGTACATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTT CATATATATATATTCATATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	234	0.0043	230	c.143 others(247): Show c.143+2238_143+2239insGTACATATATATGTTCATATATGTATGT TCATATATATATGTACATATATATGTTCATATATGTATGTTCATATATAT ATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTTC ATATATATATGTTCATATATATATATTCATATATATATATGTTCATATAT AT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR161_chr1_168074542_168141930	168119275	T T	TATACATA others(223): Show TATACATATATATACATATATATGTATATATATGTATATATATACATATA TATACATATATATACATATATATACGTATATATATATACATATATATATA CATATATATATACACATATATATGTATACATATATATATACATATATATG TATACATATATATATACACATATATATATACATATATATACATATATATG TGTACATATATGTACATATATATATGTACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01169.hp1 others(4): Show HG00099.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01261.hp1 HG01515.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0059 a0001c0002t0010 a0001c0002t0017 a0001c0001t0059 a0001c0002t0010 a0001c0002t0017	a0001c0001t0059g0319 a0001c0002t0010g0318 a0001c0002t0010g0320 others(4): Show a0001c0001t0059g0319 a0001c0002t0010g0318 a0001c0002t0010g0320 a0001c0002t0010g0321 a0001c0002t0010g0322 a0001c0002t0010g0323 a0001c0002t0017g0316	7	340	0.0206	230	c.-44 others(249): Show c.-44-14382_-44-14381insGTGTACATATATATATGTACATATAT GTACACATATATATGTATATATATGTATATATATATGTGTATATATATAT GTATACATATATATGTATATATATATGTATACATATATATGTGTATATAT ATATGTATATATATATGTATATATATATACGTATATATATGTATATATAT GTATATATATGTATATATATACATATATATACATATATATGTATATATAT GTAT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GPR161_chr1_168074542_168141930	168119277	T T	TATACATA others(223): Show TATACATATATATACATATATATGTATATATATGTGTATATATATACATA TATATACATATATATACATATATATACGTATATATATATACATATATATA TACATATATATACACATATATATGTATACATATATATATACATATATATG TATACATATATATACACATATATATATACATATATATATACATATATATG TGTACATATATGTACATATATATATGTACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG03516.hp1 HG01109.hp2 HG02451.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0171 a0001c0004t0012g0172 a0001c0004t0012g0173 a0001c0004t0012g0171 a0001c0004t0012g0172 a0001c0004t0012g0173	3	340	0.0088	230	c.-44 others(249): Show c.-44-14384_-44-14383insGTGTACATATATATATGTACATATAT GTACACATATATATGTATATATATATGTATATATATATGTGTATATATAT GTATACATATATATGTATATATATATGTATACATATATATGTGTATATAT ATGTATATATATATGTATATATATATACGTATATATATGTATATATATGT ATATATATGTATATATATACACATATATATACATATATATGTATATATAT GTAT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(223): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATATAAATATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 NA18906.hp1 HG02976.hp2 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0030 a0001c0001t0017 a0001c0001t0030	a0001c0001t0017g0189 a0001c0001t0017g0197 a0001c0001t0030g0063 a0001c0001t0017g0189 a0001c0001t0017g0197 a0001c0001t0030g0063	3	208	0.0144	230	c.-97 others(247): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(223): Show TTATATATAAATATATGTAAATATACATGTATATTTATTCATATATAAAT ATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAATAT ACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATATTT ATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0080 a0001c0001t0010g0080	1	208	0.0048	230	c.-97 others(247): Show c.-97-2405_-97-2404insTAAATATATGTAAATATACATGTATATT TATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATATA AATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAA TATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46635066	T T	TGGCCACT others(223): Show TGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGC CACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACT CCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTG TCCTGGGGGACCGTGTCTTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGGGACCGTGTCTTCCCTGCCCCCGACCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	328	0.0031	230	c.163 others(247): Show c.163-2761_163-2760insCTGGGGAACCGTGTCCTCCCTGCCCCCA CCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCC CGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGC CACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCACCCCTGGCCACT CCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTG TC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635158	T T	TGGCCACT others(223): Show TGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGC CACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCACCCCTGGCCACT CCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCT GGGAGGCCGTGTCCTCCCTGCCCCCGACCCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0070 a0001c0002t0004g0070	1	328	0.0031	230	c.163 others(247): Show c.163-2663_163-2662insGACCGTGTCTTCCCTGCCCCCGACCCCG GCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCACCCCTGGCCA CTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCC TGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTC CTGGGAGGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGG GG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635159	G G	GGCCACTC others(223): Show GGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTC CTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCTTG GGGAGCCGTGTCCTCCCTGCCCCCGCCCCCA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0292 a0001c0001t0026g0292	1	328	0.0031	230	c.163 others(247): Show c.163-2641_163-2640insACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCTCCACCCCTGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTG CCCCCGCCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635179	A A	ACCGTGTC others(223): Show ACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGGACCG TGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGGACCGTGTC TTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCC CTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGC CCCCGCCCCCAGCCACTCCTGTCCTGGGAGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03927.hp1 HG01109.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0090 a0001c0002t0004g0095 a0001c0002t0004g0090 a0001c0002t0004g0095	2	328	0.0061	230	c.163 others(247): Show c.163-2654_163-2653insTTCCCTGCCCCCGACCCCGGCCACTCCT GTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCC TGGGGGACCGTGTCTTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGG GGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCCCCGCCCCCAGCCACTCCTGTCCTGGGAGGCCGTG TC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635242	C C	CCCACCCC others(223): Show CCCACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCA CCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCC CGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGC CACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCCAGCCACT CCTGTCCTGGGGAACCGTGTCCTCCCTGCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0227 a0001c0001t0063g0227	1	328	0.0031	230	c.163 others(247): Show c.163-2591_163-2590insCAGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CACCCCCAGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACC CC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635244	C C	CGACCCCG others(223): Show CGACCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCC CCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGG CCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCAC TCCTGTCCTGGGAGGCTGTATCCTCCCTGCCCCCGCCCCTGGCCACTCCT GTCCTGGGGAACCGTGTCTTCCCTGCCCCCG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03225.hp1 HG03471.hp1 HG01070.hp2 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0013g0020 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0013g0020	3	328	0.0092	230	c.163 others(247): Show c.163-2596_163-2595insGACCCCGGCCACTCCTGTCCTGGGAGGC CGTGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTG CCCCCGCCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCTTCCCTGCCCC CG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18			chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635322	G G	GTCCTCCC others(223): Show GTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTATCC TCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCC TGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCC CCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCCG ACCCCGGCCACTCCTGTCCTGGGAGGCTGTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	328	0.0031	230	c.163 others(247): Show c.163-2504_163-2503insGCCCCCGGCCACTCCTGTCCTGGGAGGC CGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTA TCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCCTATCCT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCT GCCCCCGACCCCGGCCACTCCTGTCCTGGGAGGCTGTATCCTCCCTGCCC CC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635417	T T	TTCCCTGC others(223): Show TTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGC CTGTCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGC CCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCC GCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCC CTGGCCACTCCTGTCCTGGGAGGCCGTATCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp2 HG02922.hp1 others(5): Show HG02615.hp2 HG02818.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 NA18964.hp2 NA19065.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0049 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0049 a0001c0001t0058	a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0005g0001 others(4): Show a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0005g0001 a0001c0001t0005g0040 a0001c0001t0005g0188 a0001c0001t0049g0042 a0001c0001t0058g0277	8	328	0.0244	230	c.163 others(247): Show c.163-2411_163-2410insACCCCGGCCACTCCTGTCCTGGGGAACC GTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTC CCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCTCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCC CG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRHL1_chr2_9946693_10007277	9998508	A A	ACATATAT others(223): Show ACATATATATGTGTACGTATATATATATACATATGTACACATATATGTGT ACACATATATATACACATATATGTGTACACATATATATACACATATATGT GTACACATATATATACACATATATGTGTACACATATATATACACATATAT GTGTACACATATATATACACATATATGTGTACACATATATATACACATAT ATGTGTACACATATATATACACATATATGTG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0205	1	418	0.0024	230	c.167 others(247): Show c.1678-457_1678-456insCATATATATGTGTACGTATATATATATA CATATGTACACATATATGTGTACACATATATATACACATATATGTGTACA CATATATATACACATATATGTGTACACATATATATACACATATATGTGTA CACATATATATACACATATATGTGTACACATATATATACACATATATGTG TACACATATATATACACATATATGTGTACACATATATATACACATATATG TG	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998811	T T	TATATATG others(223): Show TATATATGTACACACATATATATACATATATATGTACACACATATATATA CATATATATGTACACATATATATACATATATATGTACACATATATATATA CATATATATGTACACATATATATATACATATATATGTACACATATATATA TACATATATATGTACACATATATATATACATATATATGTACACATATATA TATACATATATATGTACACATATATATATAC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0160 a0002c0002t0002g0160	1	418	0.0024	230	c.167 others(247): Show c.1678-148_1678-147insGTACACACATATATATACATATATATGT ACACACATATATATACATATATATGTACACATATATATACATATATATGT ACACATATATATATACATATATATGTACACATATATATATACATATATAT GTACACATATATATATACATATATATGTACACATATATATATACATATAT ATGTACACATATATATATACATATATATGTACACATATATATATACATAT AT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRID1_chr10_85594552_86371795	86226513	G G	GCCCCAGC others(223): Show GCCCCAGCACACCCTCACTCCCACCCCAGCACACCCTCCCACCCCAGCAC ACCCTCACTCCCACCCCAGCACACCCTCACTCCCACCCCAGCATACCCTC ACTCCCACCCCAGCATACCCTCCCACCCCAGCACACCCTCACTCCCACCC CAGCACACCCTCACTCCCACCCCAGCACACCCTCCCACCCCAGCACACCC TCACTCCCACCCCAGCACACCCTCACTCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG02922.hp1 others(1): Show HG00639.hp2 HG01081.hp2 HG02922.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0012 a0001c0001 a0001c0002 a0002c0012	a0001c0001t0026 a0001c0002t0005 a0002c0012t0056 a0001c0001t0026 a0001c0002t0005 a0002c0012t0056	a0001c0001t0026g0029 a0001c0002t0005g0090 a0001c0002t0005g0092 others(1): Show a0001c0001t0026g0029 a0001c0002t0005g0090 a0001c0002t0005g0092 a0002c0012t0056g0088	4	96	0.0417	230	c.236 others(249): Show c.236-19866_236-19865insTGGGAGTGAGGGTGTGCTGGGGTGGG AGTGAGGGTGTGCTGGGGTGGGAGGGTGTGCTGGGGTGGGAGTGAGGGTG TGCTGGGGTGGGAGTGAGGGTGTGCTGGGGTGGGAGGGTATGCTGGGGTG GGAGTGAGGGTATGCTGGGGTGGGAGTGAGGGTGTGCTGGGGTGGGAGTG AGGGTGTGCTGGGGTGGGAGGGTGTGCTGGGGTGGGAGTGAGGGTGTGCT GGGG	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	2/15			chr10	TogoVar
GRIN1_chr9_137134154_137173756	137144712	T T	TAGAAAGT others(223): Show TAGAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGT CCCAGAGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGA AGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGAGT GAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGA CAGGAGTGAGAGGAAGGGGGTCCCAGGGTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG02486.hp2 HG00642.hp2 HG01192.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0101 a0001c0001t0001g0011 a0001c0001t0001g0101	3	298	0.0101	230	c.394 others(245): Show c.394-997_394-996insTGGCAGGGATGGGATGGGAGACACGAGGGG GTCCCAGAGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAG GAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGGGACAGGA GTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGAGGGGTGGG GACAGGAGTGAGAGGAAGGGGGTCCCAGGGTCCAGAAAGTGTCCCCAGGG	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(223): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCTCTTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCTCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCTCCTCCTCCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	290	0.0035	230	c.427 others(247): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCTCTTCCCCCCTCCTCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCTCCTCCCCCCCT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTCCCCCCTCCTCCTCCTCCCCTCCTCCTCCCCCCCTCCTCCTC CT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTPBP6_chrX_299759_323796	323688	G G	GTGTGTGT others(223): Show GTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCT GCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGG GACGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAG TCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAG GGCGTCCCCAGGTGGTGAGCTCAGGGACGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18956.hp2 NA18952.hp1 NA18956.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0033 a0002c0002t0001g0068 a0001c0001t0002g0033 a0002c0002t0001g0068	2	155	0.0129	230	c.-49 others(241): Show c.-4902_-4901insAACGTCCCTGAGCTCACCACCTGGGGACGCCCTC ATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTG ACGGCTACACACACACACACACACACACACACACACACACAAACGTCCCT GAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGA CGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4893		chrX	TogoVar
GTPBP6_chrX_299759_323796	323690	G G	GTGTGTGT others(223): Show GTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGC CCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGA CGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAG TCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAG GGCGTCCCCAGGTGGTGAGCTCAGGGACGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18999.hp1 NA19089.hp1 NA18994.hp1 NA18999.hp1 NA19089.hp1	a0001 a0028 a0001 a0028	a0001c0001 a0028c0017 a0001c0001 a0028c0017	a0001c0001t0002 a0028c0017t0002 a0001c0001t0002 a0028c0017t0002	a0001c0001t0002g0058 a0001c0001t0002g0063 a0028c0017t0002g0010 a0001c0001t0002g0058 a0001c0001t0002g0063 a0028c0017t0002g0010	3	155	0.0194	230	c.-49 others(241): Show c.-4904_-4903insAACGTCCCTGAGCTCACCACCTGGGGACGCCCTC ATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTG ACGGCTACACACACACACACACACACACACACACACACACACAAACGTCC CTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCA GACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4895		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAC others(223): Show TGGAATACATATATATGGAATACATATATATGGAATACACATATGGAATA CATATATATGGAATACACATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATATGGAATACATATATGGAATACATATATGTG GAATACATATATGGAATATATATATATGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01361.hp2 HG00735.hp1 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0027 a0002c0002t0006g0186 a0002c0002t0006g0027 a0002c0002t0006g0186	2	323	0.0062	230	c.-21 others(241): Show c.-2147_-2146insGGAATACATATATATGGAATACATATATATGGAA TACACATATGGAATACATATATATGGAATACACATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATACATATATGTGGAATACATATATGGAATATATATATATGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar

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