Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSF2RA_chrX_1263814_1314935	1296354	C C	CTACAGTC others(164): Show CTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGG AGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGA CCCCTGGTGGAACTGTACAGTCCCCTACTCACGACCCCTACACTCTCCTA CCCATGACCCCTGGTGGAACCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	159	0.0063	171	c.810 others(186): Show c.810+920_810+921insCTACAGTCCCCTACCCATGACCCCTGGAGT AACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCC CTGGTGGAACTGTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCC ATGACCCCTGGTGGAACCGTACAGTCCCCTACTCACGACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1296805	G G	GAACCCTA others(164): Show GAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACC CGTGGCGGAACTGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACC CATGACCCCTGGCAGAACCCTACAGTCCCCTACTCATGACCCCTACAGTC CCCTACCCATGACCCCTGGAGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp2 HG02922.hp1 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0002 a0003c0009t0002 a0001c0001t0002 a0003c0009t0002	a0001c0001t0002g0061 a0003c0009t0002g0104 a0001c0001t0002g0061 a0003c0009t0002g0104	2	159	0.0126	171	c.810 others(188): Show c.810+1376_810+1377insCTACACTCTCCTACCCATGACCCGTGGC GGAACTGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGAC CCCTGGCAGAACCCTACAGTCCCCTACTCATGACCCCTACAGTCCCCTAC CCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297932	A A	AGAACCCT others(164): Show AGAACCCTACAGTCCCCTACTCACGAACCCTACAGTCCCCTACCCATGAC CCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTAC CCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACT CTCCTACCCATGACCCCTGGTG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	159	0.0063	171	c.810 others(188): Show c.810+2501_810+2502insACCCTACAGTCCCCTACCCATGACCCCT GGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCAT GACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCC TACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297932	A A	AGAACCCT others(164): Show AGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGAC CCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTAC CCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACT CTCCTACCCATGACCCCTGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00597.hp2 others(38): Show HG00408.hp1 HG00597.hp1 HG00597.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03239.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 NA18906.hp1 NA18969.hp1 NA18973.hp2 NA18980.hp1 NA19081.hp1 NA19087.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003 a0002c0004 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0004 a0001c0002t0008 a0001c0005t0005 a0001c0005t0011 a0001c0007t0001 a0001c0007t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0004t0003 a0002c0006t0003 a0002c0006t0005	a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0056 others(38): Show a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0002g0051 a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0003g0002 a0001c0001t0003g0046 a0001c0001t0003g0097 a0001c0001t0003g0116 a0001c0001t0003g0124 a0001c0001t0003g0151 a0001c0001t0004g0012 a0001c0001t0004g0019 a0001c0001t0004g0154 a0001c0001t0015g0027 a0001c0002t0004g0050 a0001c0002t0004g0083 a0001c0002t0008g0082 a0001c0005t0005g0009 a0001c0005t0005g0136 a0001c0005t0011g0091 a0001c0007t0001g0106 a0001c0007t0002g0128 a0002c0003t0001g0144 a0002c0003t0002g0030 a0002c0003t0002g0149 a0002c0003t0002g0157 a0002c0003t0004g0088 a0002c0003t0004g0131 a0002c0003t0005g0146 a0002c0004t0003g0109 a0002c0006t0003g0156 a0002c0006t0005g0028	41	159	0.2579	171	c.810 others(188): Show c.810+2509_810+2510insGTCCCCTACCCATGACCCCTGGAGTAAC CCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTG GTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATG ACCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298353	G G	GTCTCCTA others(164): Show GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTAC TCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGT CCCCTACTCACGACCCCTACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA21309.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0005g0134 a0001c0002t0005g0135	2	159	0.0126	171	c.811 others(188): Show c.811-2116_811-2115insGGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTC CCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298591	T T	TGGAACCC others(164): Show TGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGA CCCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTA CCCATGACCTCTGGTGGAACCCTACAGTCCCCTACTCACGACCCGTACAG TCTCCTACCCATGACCCCTGGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0030 a0002c0003t0002g0030	1	159	0.0063	171	c.811 others(188): Show c.811-1757_811-1756insGTACAGTCTCCTACCCATGACCCCTGGC GGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGAC CCCTGGTGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTAC CCATGACCTCTGGTGGAACCCTACAGTCCCCTACTCACGACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314243	C C	CCACTGCA others(164): Show CCACTGCACCTGCCCAACCACACAGCATCTGCCCAACCACTCTGTGCCTG CCCAACCACACTGCACCTGCCTAACCGCACTGCACCTGCCCAACCGCACT GCGCCTGCCCAACCCCACTGCATCTGCCCAACCACTCTGTGCCTGCCCAA CCACACTGCACCTGCCTAACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02622.hp1 HG01433.hp1 HG02622.hp1	a0005 a0007 a0005 a0007	a0005c0008 a0007c0017 a0005c0008 a0007c0017	a0005c0008t0001 a0007c0017t0001 a0005c0008t0001 a0007c0017t0001	a0005c0008t0001g0138 a0007c0017t0001g0143 a0005c0008t0001g0138 a0007c0017t0001g0143	2	159	0.0126	171	c.47 others(182): Show c.4764_*4765insCACTGCACCTGCCCAACCACACAGCATCTGCCCA ACCACTCTGTGCCTGCCCAACCACACTGCACCTGCCTAACCGCACTGCAC CTGCCCAACCGCACTGCGCCTGCCCAACCCCACTGCATCTGCCCAACCAC TCTGTGCCTGCCCAACCACACTGCACCTGCCTAACCG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4309		chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314319	A A	ACACTGCA others(164): Show ACACTGCACCTGCCTAACCGCACTGCACCTGCCCAACCGCACTGCACCTG CCCAACCCCACTGCACCTGCCCAACCACACAGCATCTGCCCAACCACTCT GTGCCTGCCCAACCACACTGCACCTGCCTAACCGCACTGCACCTGCCCAA CCCCACTGCACCTGCCCAACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0007 a0005c0008t0007	a0005c0008t0007g0139 a0005c0008t0007g0139	1	159	0.0063	171	c.48 others(182): Show c.4840_*4841insCACTGCACCTGCCTAACCGCACTGCACCTGCCCA ACCGCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCACACAGCAT CTGCCCAACCACTCTGTGCCTGCCCAACCACACTGCACCTGCCTAACCGC ACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4385		chrX	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(164): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18994.hp1 NA19058.hp2 HG02132.hp1 NA18994.hp1 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338	3	396	0.0076	171	c.513 others(186): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CYP4F3_chr19_15635897_15667825	15650737	T T	TCTCTTTC others(164): Show TCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCAT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTCTCTTTCT CTTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0162 a0001c0001t0016g0162	1	424	0.0024	171	c.918 others(186): Show c.918+554_918+555insCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTTCCTTCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTC TTTCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTCTTTCT others(164): Show TTCTTTCTTTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCATCTTTC TTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTCTCTTTCTC TTTCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0159 a0001c0001t0062g0159	1	424	0.0024	171	c.918 others(186): Show c.918+556_918+557insCTTTCTTTCTCTTTCTTTCTTTCTTTTCCT TCCTTCCTTCCATCTTTCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650738	T T	TTCTTTCT others(164): Show TTCTTTCTTTCTTTCTCTCTTTCTTTCTCTTTCTTTCTTTCTTTTCCTTC CTTCCTTCCATCTTTCTTTCTTTTTCTTTCGTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTCTCTCTTTCTC TTTCTTTCTTTCTTTCTTTTCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0137 a0002c0003t0003g0137	1	424	0.0024	171	c.918 others(186): Show c.918+556_918+557insCTTTCTTTCTTTCTCTCTTTCTTTCTCTTT CTTTCTTTCTTTTCCTTCCTTCCTTCCATCTTTCTTTCTTTTTCTTTCGT TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTT TCTTTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTTCCT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYSLTR1_chrX_78266468_78332611	78269082	T T	TATTATAT others(164): Show TATTATATTATATATAATATATATATTATATATAATATATAATATATTAT ATATATTATAAATTATATAATATATATAATATATATATTATATATAATAT ATTATATATTATATAATATATAATATATATAATATATAATATATTATATA TAATATATTATATATTATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	240	0.0042	171	c.36 others(182): Show c.3650_*3651insTTATATAATATATAATATATTATATATAATATAT TATATATTATATATATTATATATTATATAATATATAATATATTATATATA ATATATATATTATATATATTATATAATTTATAATATATATAATATATTAT ATATTATATATAATATATATATTATATATAATATAAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		2385		chrX	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(164): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATGTGTGTATATA TATACATATATATACTATATATGTGTGTGTGTGTATATATATATATATAT ATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0015 a0001c0002t0007g0015	1	380	0.0026	171	c.-11 others(182): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATGTGTGTATATATATACATATATATACTATATATGTGTGTGTGTGTA TATATATATATATATATATATATATATTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DCLK2_chr4_150073445_150262438	150251227	T T	TCCCCACA others(164): Show TCCCCACACCCCCCACACCCCCCACACCCCCATACCCCCCACACCCCCCA CACCCCCACACCCCCACACACCCCACACCCCCCACATCCCCACACACCAC ACATCCCCCACACCCCCCACACCCCCATCTCCCCACACCCCCCACACCCC CCACACCCCCATCTCCCCACAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0030 a0001c0009t0007g0030	1	116	0.0086	171	c.207 others(190): Show c.2073+1547_2073+1548insACACCCCCCACACCCCCCACACCCCC ATACCCCCCACACCCCCCACACCCCCACACCCCCACACACCCCACACCCC CCACATCCCCACACACCACACATCCCCCACACCCCCCACACCCCCATCTC CCCACACCCCCCACACCCCCCACACCCCCATCTCCCCACACCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DGAT1_chr8_144309584_144331852	144313650	C C	CCGCCTCC others(164): Show CCGCCTCCCCGCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCT CCCCGCCTCCCCGCACCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGC CTCCCCGCCCCGCCTCCCCGCGCCTCCCCGCCTCCCCGCCCCGCCTCCCC GCCTCCCCGCACCGCCTCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18984.hp2 NA19058.hp2 others(1): Show HG00438.hp1 NA18984.hp2 NA19058.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	370	0.0108	171	c.29 others(182): Show c.2903_*2904insCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGGG CGGGGAGGCGGGGAGGCGCGGGGAGGCGGGGCGGGGAGGCGCGGGGAGGC GGGGCGGGGAGGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGCGGTGCGGG GAGGCGGTGCGGGGAGGCGGGGAGGCGCGGGGAGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		933		chr8	TogoVar
DGAT1_chr8_144309584_144331852	144313723	G G	GCCCCGCC others(164): Show GCCCCGCCTCCCCGCGCCTCCCCGCGCCTCCCCGCCCCGCCTCCCCGCCT CCCCGCACCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGC CTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCC GCCTCCCCGCGCCGCGCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	171	c.28 others(182): Show c.2830_*2831insAGGCGGCGCGGCGCGGGGAGGCGGCGCGGGGAGG CGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGA GGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGTGCGGGGAGGCGGGGAGGC GGGGCGGGGAGGCGCGGGGAGGCGCGGGGAGGCGGGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		860		chr8	TogoVar
DHRSX_chrX_2214506_2505976	2282271	A A	AGGGGAGG others(164): Show AGGGGAGGAAATAGGGGAAAGAGAGAAAGAGAGATGGAGAGGGAACAGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGGAGGAGAGGGAGGAAATA GGGGGAAAGAGAGAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGG CAAACGAGAGGGAGAGAGAAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	50	0.0200	171	c.388 others(188): Show c.388+9230_388+9231insCCTTCTCTCTCCCTCTCGTTTGCCCTCC CTCTCTCTCCCTGTTCCCTCTCCATCTCTCTCTCTCTTTCCCCCTATTTC CTCCCTCTCCTCCTCTCTCCCTCTCGTTTGCCCTCCCTCTCTCTCCCTGT TCCCTCTCCATCTCTCTTTCTCTCTTTCCCCTATTTCCTCCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
DIP2B_chr12_50499985_50753657	50598754	T T	TCTCCCCT others(164): Show TCTCCCCTCCCCCTCCCCTCTCCCCCTCTCCCCTCCCTCCCCCTCCCCTC TTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTC CCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCCCC TCTCCCCTCCCCCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0079 a0001c0001t0011g0079	1	284	0.0035	171	c.101 others(190): Show c.101-27221_101-27220insTCCCCTCCCCCTCCCCTCTCCCCCTC TCCCCTCCCTCCCCCTCCCCTCTTCCCCTCTCCCCTCCCCTCTTCCCCCT CTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTC CCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	455354	A A	ACTGCAGT others(164): Show ACTGCAGTGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAGTAAATGAGATG AAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAGCAAA TGAGATGAAAACACTCTGCGGTGAGTCCCTGCCTGAGGGGAGACCGTGAG GAGCAAATGAGATGAAAACACT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0044 a0001c0014t0001g0044	1	88	0.0114	171	c.269 others(190): Show c.269-14359_269-14358insAGTGTTTTCATCTCATTTGCTCCTCA CGGTCTCCCCTCAGGCAGGGACTCACCGCAGAGTGTTTTCATCTCATTTG CTCCTCACGGCCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATC TCATTTACTCCTCACGGCCTCCCCTCAGGCAGGGACTCACTGCAG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	455905	G G	GCAAATGA others(164): Show GCAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGACT GTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGG GGAGGCCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTG CCTGAGGGGAGACTGTGAGGAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	88	0.0114	171	c.269 others(190): Show c.269-14910_269-14909insTTCCTCACAGTCTCCCCTCAGGCAGG GACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCACGGCCTCCCCTC AGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCACAGTC TCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	456077	T T	TAAATGAG others(164): Show TAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCCG TGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGG GAGGCCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGC CTGAGGGGAGACTGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG00673.hp1 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0054 a0001c0003t0002g0040 a0001c0003t0002g0054	2	88	0.0227	171	c.269 others(190): Show c.269-15082_269-15081insGCTCCTCACAGTCTCCCCTCAGGCAG GGACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCACGGCCTCCCCT CAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCACGGC CTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	456239	C C	CGTGAGGA others(164): Show CGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAG GGGAGGCCATGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCT GCCTGAGGGGAGGCCGTGAGGAGTAAATGAGATGAGAACACTCTGCAGTG AGTCCCTGCCTGAGGGGAGACT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0039 a0001c0004t0003g0039	1	88	0.0114	171	c.269 others(190): Show c.269-15244_269-15243insAGTCTCCCCTCAGGCAGGGACTCACT GCAGAGTGTTCTCATCTCATTTACTCCTCACGGCCTCCCCTCAGGCAGGG ACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCATGGCCTCCCCTCA GGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478268	G G	GAGGGGAG others(164): Show GAGGGGAGAGGGAGGAGAGGGAGGGGAGGGGAGAAGGGAAGGGAGGGGAG GGGAGGGAGAAGAAGGGAGGGGAGGGAGGGAGAAGAAGGGAGGGAGGGAG AGGGGAGAAGAGGGAGGGGAGGGGAGAGAAGGGAGGGGAGGGGAGGGAGA AGAAGGGAGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0002 a0001c0022t0003g0002	1	88	0.0114	171	c.158 others(188): Show c.158-5720_158-5719insTCCCCTCCCCTCCCTCCCTTCTTCTCCC TCCCCTCCCCTCCCTTCTCTCCCCTCCCCTCCCTCTTCTCCCCTCTCCCT CCCTCCCTTCTTCTCCCTCCCTCCCCTCCCTTCTTCTCCCTCCCCTCCCC TCCCTTCCCTTCTCCCCTCCCCTCCCTCTCCTCCCTCTCCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNAH10_chr12_123757301_123940714	123908178	T T	TCTGTCTC others(164): Show TCTGTCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCC CTATCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGT CTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTC TCTCTGTCTCCTCCCTATCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0058 a0058	a0058c0088 a0058c0088	a0058c0088t0001 a0058c0088t0001	a0058c0088t0001g0015 a0058c0088t0001g0015	1	170	0.0059	171	c.981 others(190): Show c.9816-1065_9816-1064insCCTGTCTCCTCCCTGTCTCTCTGTCT CCTCCCTATCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTC TCTGTCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCCCTGTCTCCTCC CTGTCTCTCTGTCTCCTCCCTATCTCCCTGTCTCCTCCCTGTCTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	57/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912126	C C	CGGGGGGG others(164): Show CGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGG GGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTC TGTCCTGGGTGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTG TCCTGGGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02647.hp1 others(3): Show HG01891.hp1 HG02109.hp2 HG02647.hp1 HG02723.hp2 HG03486.hp1 HG03579.hp2	a0005 a0030 a0036 a0005 a0030 a0036	a0005c0007 a0030c0035 a0036c0036 a0005c0007 a0030c0035 a0036c0036	a0005c0007t0002 a0030c0035t0002 a0036c0036t0002 a0005c0007t0002 a0030c0035t0002 a0036c0036t0002	a0005c0007t0002g0006 a0005c0007t0002g0007 a0005c0007t0002g0040 others(3): Show a0005c0007t0002g0006 a0005c0007t0002g0007 a0005c0007t0002g0040 a0005c0007t0002g0044 a0030c0035t0002g0148 a0036c0036t0002g0028	6	170	0.0353	171	c.101 others(190): Show c.10135-935_10135-934insTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGTGGGT CTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGT CTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAC others(164): Show TCCACCACCTCCACCACCATCTTCACCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCATCACCACCTCCTTCACCATCACCATCACCACCA CCTCCACTATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0010 a0001 a0010	a0001c0032 a0010c0091 a0001c0032 a0010c0091	a0001c0032t0006 a0010c0091t0001 a0001c0032t0006 a0010c0091t0001	a0001c0032t0006g0127 a0010c0091t0001g0076 a0001c0032t0006g0127 a0010c0091t0001g0076	2	256	0.0078	171	c.323 others(188): Show c.3234+753_3234+754insCCATCTTCACCACCACCACCACCTCCAC CACCAGCACTTCCACCATCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(164): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0002 a0001c0063t0002	a0001c0063t0002g0163 a0001c0063t0002g0163	1	256	0.0039	171	c.323 others(188): Show c.3234+855_3234+856insTCACCACCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400097	C C	CCACCACC others(164): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCC ACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18961.hp1 NA18968.hp1 others(4): Show HG01346.hp1 NA18961.hp1 NA18968.hp1 NA18970.hp2 NA18997.hp1 NA19010.hp2 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0062 a0002c0006 a0003c0004 a0001c0062 a0002c0006 a0003c0004	a0001c0062t0001 a0002c0006t0001 a0003c0004t0001 a0001c0062t0001 a0002c0006t0001 a0003c0004t0001	a0001c0062t0001g0164 a0002c0006t0001g0222 a0002c0006t0001g0223 others(4): Show a0001c0062t0001g0164 a0002c0006t0001g0222 a0002c0006t0001g0223 a0002c0006t0001g0226 a0002c0006t0001g0237 a0002c0006t0001g0238 a0003c0004t0001g0137	7	256	0.0273	171	c.323 others(188): Show c.3234+855_3234+856insTCACCACCACCTCCACCATCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400282	T T	TCCACCAT others(164): Show TCCACCATCACCATCACCACCACCATCACCACCACCTCCACCATCACCAT CACCACCACCACCGCCACCATCACCACCACCTCCACCATCACCACCACCT CCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACC ATCACCATCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0016 a0016	a0016c0081 a0016c0081	a0016c0081t0001 a0016c0081t0001	a0016c0081t0001g0082 a0016c0081t0001g0082	1	256	0.0039	171	c.323 others(190): Show c.3234+1025_3234+1026insACCATCACCATCACCACCACCATCAC CACCACCTCCACCATCACCATCACCACCACCACCGCCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCTCCTTCACCATCACCATCACCATCACCACCACCTCCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400662	C C	CCACCACC others(164): Show CCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCC ACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCAC CATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCA ATATCACTACCTCCTCCACCAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	256	0.0039	171	c.323 others(190): Show c.3234+1408_3234+1409insCCTCCACCACCAGCACTTCCACCATC ACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCAC CATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCA CCTTTCCTATCACCTCCAATATCACTACCTCCTCCACCATCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400902	C C	CCATCACC others(164): Show CCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACC ATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCAC CACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTA TCACCTTTCCTATCACCTCCAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18968.hp1 NA19091.hp2 NA18961.hp1 NA18968.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0062 a0002c0006 a0001c0062 a0002c0006	a0001c0062t0001 a0002c0006t0001 a0001c0062t0001 a0002c0006t0001	a0001c0062t0001g0164 a0002c0006t0001g0223 a0002c0006t0001g0226 a0001c0062t0001g0164 a0002c0006t0001g0223 a0002c0006t0001g0226	3	256	0.0117	171	c.323 others(190): Show c.3234+1643_3234+1644insCATCACCACCACCTCCACCACCACCA CCTCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACC ACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGC CCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(164): Show TCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCT GCAGCTCCCTGCCCCCCTGCTCCCCTGTCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02145.hp2 HG03017.hp2 others(1): Show HG01361.hp1 HG02145.hp2 HG03017.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0207 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0233	4	250	0.0160	171	c.-10 others(190): Show c.-107+5842_-107+5843insTCCCTGCAGCCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTGTCTG CAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634604	C C	CCCTTTCC others(164): Show CCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	250	0.0040	171	c.105 others(188): Show c.105-1304_105-1303insCCTTTCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635206	T T	TTCCTTCC others(164): Show TTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCGTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTCCTTCTCCTTTCCCTTCCTTCCCTTTCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	250	0.0040	171	c.105 others(186): Show c.105-696_105-695insCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT CTCCGTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCTCCTTTCCCTCCTTCTCCTTTCCCTTCCTTCCCTT TCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP7_chr9_137105546_137119733	137111212	T T	TGAGGGGC others(164): Show TGAGGGGCCTGTGATCCCAGCACTCTGAGGGTGAGACGGCAGCAGGGTAG AGGTAGGCGAGGGGCCTGTGATCCCAGCACTCTGAGGGTGAGACGGGAGC AGGGTAGGGGCAGGCGAGGGGCCTGTGATCCCAGCACTCTGGGGGTGAGA CGGGAGCAGGGAAGGGGCAGGC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0001 a0012c0026t0001	a0012c0026t0001g0113 a0012c0026t0001g0113	1	454	0.0022	171	c.127 others(188): Show c.1273-263_1273-262insGCCTGCCCCTTCCCTGCTCCCGTCTCAC CCCCAGAGTGCTGGGATCACAGGCCCCTCGCCTGCCCCTACCCTGCTCCC GTCTCACCCTCAGAGTGCTGGGATCACAGGCCCCTCGCCTACCTCTACCC TGCTGCCGTCTCACCCTCAGAGTGCTGGGATCACAGGCCCCTC	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	11/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137111265	C C	CAGGCGAG others(164): Show CAGGCGAGGGGCCTGTGATCCCAGCACTCTGAGGGTGAGACGGCAGCAGG GTAGAGGTAGGCGAGGGGCCTGTGATCCCAGCACTCTGAGGGTGAGACGG GAGCAGGGTAGGGGCAGGCGAGGGGCCTGTGATCCCAGCACTCTGAGGGT GAGACGGCAGCAGGGTAGAGGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0065 a0001c0004t0001g0065	1	454	0.0022	171	c.127 others(188): Show c.1273-316_1273-315insACCTCTACCCTGCTGCCGTCTCACCCTC AGAGTGCTGGGATCACAGGCCCCTCGCCTGCCCCTACCCTGCTCCCGTCT CACCCTCAGAGTGCTGGGATCACAGGCCCCTCGCCTACCTCTACCCTGCT GCCGTCTCACCCTCAGAGTGCTGGGATCACAGGCCCCTCGCCT	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	11/12			chr9	TogoVar
DUSP8_chr11_1549051_1577271	1551118	T T	TCCATCCA others(164): Show TCCATCCATCCACCCACCCATCCACCCCACTCATCCCTCTACCCATTCAT CATCTGCCTATCCATCCATCCAACCACCCACCCCACTCATCCCTCTACCC ATTCATCCCATTTGCTCATCCATCCATCCACCCACCCACCCCACTCATCC CTCTACCCATTCATCCATCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	171	c.53 others(182): Show c.5399_*5400insGCAGATGGATGAATGGGTAGAGGGATGAGTGGGG TGGGTGGGTGGATGGATGGATGAGCAAATGGGATGAATGGGTAGAGGGAT GAGTGGGGTGGGTGGTTGGATGGATGGATAGGCAGATGATGAATGGGTAG AGGGATGAGTGGGGTGGATGGGTGGGTGGATGGATGG	DUSP8	ENSG00000184545.11	transcript	ENST00000397374.8	protein_coding		2932		chr11	TogoVar
EHMT1_chr9_137614005_137841127	137716302	T T	TGTGGTGG others(164): Show TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTGGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0156 a0001c0008t0001g0156	1	170	0.0059	171	c.86- others(184): Show c.86-292_86-291insTTGGTGTCATGGTGGGGGAGGAAGTGGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716361	G G	GTGTTGGT others(164): Show GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGT GGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	1	170	0.0059	171	c.86- others(184): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4G3_chr1_20801479_21181897	21179800	A A	ATATATAT others(164): Show ATATATATATTATATATTATATATTATATATAATATATTATATATATTAT ATAATATATATAATACATTATATATATTATATAATATATATAATATATTA TATATAATATAATATATTATATATATAATATAATATATATAATATATATT TAATATATTATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	312	0.0032	171	c.-35 others(182): Show c.-3535_-3534insATATATTATATATAATATATTAAATATATATTAT ATATATTATATTATATATATAATATATTATATTATATATAATATATTATA TATATTATATAATATATATAATGTATTATATATATTATATAATATATATA ATATATTATATATAATATATAATATATAATATATATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2904		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179800	A A	ATATTATA others(164): Show ATATTATATATATTATATATTATATATAATACATTATATATATTATATAA TATATATAATATATTATATATAATATATAATATATTATATATATAATATA ATATATATAATATATATTTAATATATTATATATAATATATATTATATATT TAATATATTATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	312	0.0032	171	c.-35 others(182): Show c.-3535_-3534insATATATTATATATAATATATTAAATATATAATAT ATATTATATATAATATATTAAATATATATTATATATATTATATTATATAT ATAATATATTATATATTATATATAATATATTATATATATTATATAATATA TATAATGTATTATATATAATATATAATATATATAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2904		chr1	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(164): Show TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	342	0.0029	171	c.239 others(190): Show c.239-18848_239-18847insTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083966	T T	TAACATAT others(164): Show TAACATATGCTATATATCATATATATGATATATAACATATGTTATATATC ATATATATGATATATAGCATATGTTATATATGATATATAACATATATATG ATATATGATATATAACATATGTTATATATCATATATATGTTATATGTCAT ATATAACATATGCTATATACGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18977.hp1 NA18978.hp2 NA18942.hp2 NA18977.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0288 a0001c0001t0024g0154 a0001c0001t0024g0245 a0001c0001t0002g0288 a0001c0001t0024g0154 a0001c0001t0024g0245	3	338	0.0089	171	c.221 others(190): Show c.221+21530_221+21531insTCGTATATAGCATATGTTATATATGA CATATAACATATATATGATATATAACATATGTTATATATCATATATCATA TATATGTTATATATCATATATAACATATGCTATATATCATATATATGATA TATAACATATGTTATATATCATATATATGATATATAGCATATGTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083966	T T	TAACATAT others(164): Show TAACATATGCTATATATCATATATATGATATATAACATATGTTATATATG ATATATATGATATATAGCATATGTTATATATGATATATAACATATATATG ATATATGATATATAACATATGTTATATATCATATATATGTTATATGTCAT ATATAACATATGCTATATACGA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02129.hp1 HG02523.hp2 others(9): Show HG02004.hp1 HG02129.hp1 HG02523.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp2 NA18974.hp1 NA18977.hp2 NA18981.hp2 NA18985.hp2 NA19009.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0006g0113 others(9): Show a0001c0001t0006g0088 a0001c0001t0006g0093 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0120 a0001c0001t0006g0130 a0001c0001t0006g0193 a0001c0001t0006g0278 a0001c0001t0006g0280 a0001c0001t0006g0296 a0001c0001t0006g0326 a0001c0001t0012g0085	12	338	0.0355	171	c.221 others(190): Show c.221+21530_221+21531insTCGTATATAGCATATGTTATATATGA CATATAACATATATATGATATATAACATATGTTATATATCATATATCATA TATATGTTATATATCATATATAACATATGCTATATATCATATATATCATA TATAACATATGTTATATATCATATATATGATATATAGCATATGTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ENTREP2_chr15_29115252_29575979	29131608	C C	CCCAGCCC others(164): Show CCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCCCATCACCT CCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACC AGCCCCCCACATCACCTCCCCCTCCTCCACACACCCCAGCCCCCCACATC ACCTCCCCCTCCTCCACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0017 a0007c0028t0017	a0007c0028t0017g0089 a0007c0028t0017g0089	1	125	0.0080	171	c.928 others(188): Show c.928-2745_928-2744insTGTGTGTGGAGGAGGGGGAGGTGATGTG GGGGGCTGGGGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGTGTG TGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGA TGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	7/10			chr15	TogoVar
EXD3_chr9_137301896_137428162	137322731	C C	CAGGGATG others(164): Show CAGGGATGCTCTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGT CGACGCCTTGCCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCC AGACCCCGAGGAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGAT TCTCTGCCGACGCCTCACCCTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0058 a0006c0004t0001g0058	1	82	0.0122	171	c.218 others(188): Show c.2184+993_2184+994insCAGGGTGAGGCGTCGGCAGAGAATCCCT CGTGGGTCTGGGGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGGGGTG GGGTGTCGGCAGAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGACAGAG CATCCCTCGTGGGTCTGGGGTGAGGTATTGGCAGAGCATCCCT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
FAM83B_chr6_54841771_54950099	54942715	A A	AGGCTGCT others(164): Show AGGCTGCTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0032 a0002c0004t0032	a0002c0004t0032g0138 a0002c0004t0032g0138	1	272	0.0037	171	c.72 others(180): Show c.723_*724insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCACCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGGCTGCTGATTTTTT	FAM83B	ENSG00000168143.9	transcript	ENST00000306858.8	protein_coding	5/5	724	INFO_REALIGN_3_PRIME	chr6	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(164): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT CTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0135 a0002c0001t0001g0135	1	226	0.0044	171	c.748 others(186): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FGFR4_chr5_177081915_177103144	177097001	T T	TTCCTCCT others(164): Show TTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTC CTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0191 a0003c0004t0001g0191	1	372	0.0027	171	c.215 others(188): Show c.2153+274_2153+275insCTCCTCCTCCTCTTCCTCCTCCTCCTCT TCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCT CTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar

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