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
DCHS2_chr4_154226742_154496799	154378508	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG04115.hp2 HG01109.hp1 HG04115.hp2	a0004 a0033 a0004 a0033	a0004c0006 a0033c0112 a0004c0006 a0033c0112	a0004c0006t0001 a0033c0112t0028 a0004c0006t0001 a0033c0112t0028	a0004c0006t0001g0031 a0033c0112t0028g0084 a0004c0006t0001g0031 a0033c0112t0028g0084	2	189	0.0106	40	c.205 others(59): Show c.2053-1065_2053-1064insTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	DCHS2	ENSG00000197410.14	transcript	ENST00000357232.10	protein_coding	1/19			chr4	TogoVar
DCHS2_chr4_154226742_154496799	154378512	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0017 a0017	a0017c0010 a0017c0010	a0017c0010t0001 a0017c0010t0001	a0017c0010t0001g0104 a0017c0010t0001g0104	1	177	0.0056	40	c.205 others(59): Show c.2053-1069_2053-1068insTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	DCHS2	ENSG00000197410.14	transcript	ENST00000357232.10	protein_coding	1/19			chr4	TogoVar
DCHS2_chr4_154226742_154496799	154378516	G G	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0022 a0022	a0022c0017 a0022c0017	a0022c0017t0017 a0022c0017t0017	a0022c0017t0017g0055 a0022c0017t0017g0055	1	182	0.0055	40	c.205 others(59): Show c.2053-1073_2053-1072insTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	DCHS2	ENSG00000197410.14	transcript	ENST00000357232.10	protein_coding	1/19			chr4	TogoVar
DCLK1_chr13_35763652_36136382	35847623	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01099.hp1 HG01433.hp1 others(16): Show HG00673.hp2 HG01099.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG02155.hp2 HG02523.hp1 HG02897.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG06807.hp1 NA18906.hp1 NA18941.hp1 NA18992.hp1 NA19030.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0001 a0001c0004t0001 a0001c0005t0003 a0001c0006t0003 a0001c0007t0005	a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0112 others(16): Show a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0002g0062 a0001c0001t0006g0095 a0001c0001t0011g0081 a0001c0001t0022g0076 a0001c0001t0023g0190 a0001c0002t0005g0199 a0001c0002t0005g0200 a0001c0002t0006g0074 a0001c0002t0006g0127 a0001c0002t0028g0082 a0001c0003t0001g0037 a0001c0003t0001g0169 a0001c0004t0001g0078 a0001c0005t0003g0142 a0001c0006t0003g0153 a0001c0007t0005g0191	19	31	0.6129	40	c.103 others(59): Show c.1035+6875_1035+6876insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	6/16			chr13	TogoVar
DCLK1_chr13_35763652_36136382	35867848	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01928.hp1 HG01975.hp1 others(10): Show HG01074.hp2 HG01928.hp1 HG01975.hp1 HG02273.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG02922.hp2 HG03710.hp2 NA18992.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0006t0004 a0001c0007t0005	a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0001g0099 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0065 a0001c0001t0001g0099 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0003g0055 a0001c0002t0006g0130 a0001c0003t0001g0025 a0001c0003t0001g0169 a0001c0003t0002g0066 a0001c0003t0007g0202 a0001c0006t0004g0069 a0001c0007t0005g0195	13	181	0.0718	40	c.940 others(57): Show c.940+3375_940+3376insTCTTTCTTTCTTTCTTTCTTTCCTTCTT TCTTTCTTTCTT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	5/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251153	C C	CCCCCACA others(33): Show CCCCCACACACCCCCCACACCACACATCCCCCACACCCCAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	97	0.0103	40	c.207 others(59): Show c.2073+1469_2073+1470insCCCCACACACCCCCCACACCACACAT CCCCCACACCCCAA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251418	A A	ACCCACAT others(33): Show ACCCACATACCCCCACACACCCCACATAACCCCACACACCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00558.hp2 others(46): Show HG00140.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp2 HG01243.hp1 HG01255.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02451.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03704.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18942.hp1 NA18942.hp2 NA18954.hp1 NA18983.hp2 NA19030.hp2 NA19058.hp2 NA19064.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0003c0004 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0007t0002 a0001c0011t0020 a0003c0004t0002 a0003c0004t0003 a0005c0010t0021	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(46): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0088 a0001c0001t0001g0100 a0001c0001t0002g0005 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0005g0041 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0063 a0001c0001t0005g0083 a0001c0001t0011g0067 a0001c0001t0012g0062 a0001c0001t0016g0028 a0001c0001t0017g0029 a0001c0001t0022g0066 a0001c0003t0002g0024 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0005g0020 a0001c0007t0002g0106 a0001c0011t0020g0064 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0003g0004 a0005c0010t0021g0042	49	79	0.6203	40	c.207 others(59): Show c.2073+1741_2073+1742insACCCCCACACACCCCACATAACCCCA CACACCCCCCACAT	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0141 a0001c0001t0030g0141	1	67	0.0149	40	c.12 others(53): Show c.12593_*12594insTATATATATATATATATATATATAGAGAGAGA GAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	67	0.0149	40	c.12 others(53): Show c.12593_*12594insTATATATATATATATATATAGAGAGAGAGAGA GAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02647.hp1 HG03927.hp2 HG01516.hp1 HG02647.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0064 a0001c0001t0095 a0001c0001t0021 a0001c0001t0064 a0001c0001t0095	a0001c0001t0021g0051 a0001c0001t0064g0108 a0001c0001t0095g0103 a0001c0001t0021g0051 a0001c0001t0064g0108 a0001c0001t0095g0103	3	69	0.0435	40	c.12 others(53): Show c.12593_*12594insTATATATATATATATATAGAGAGAGAGAGAGA GAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02257.hp2 HG01934.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0114 a0001c0001t0017 a0001c0001t0114	a0001c0001t0017g0014 a0001c0001t0114g0152 a0001c0001t0017g0014 a0001c0001t0114g0152	2	68	0.0294	40	c.12 others(53): Show c.12593_*12594insTATATATATATATAGAGAGAGAGAGAGAGAGA GAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049765	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02004.hp1 HG02080.hp2 HG00408.hp2 HG02004.hp1 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0077 a0001c0001t0003 a0001c0001t0017 a0001c0001t0077	a0001c0001t0003g0005 a0001c0001t0017g0129 a0001c0001t0077g0107 a0001c0001t0003g0005 a0001c0001t0017g0129 a0001c0001t0077g0107	3	69	0.0435	40	c.12 others(53): Show c.12593_*12594insTATATATAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		920		chr11	TogoVar
DCUN1D5_chr11_103045686_103097160	103049791	A A	ATATATAT others(33): Show ATATATATATATATATATACATATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0110 a0001c0001t0072g0110	1	48	0.0208	40	c.12 others(53): Show c.12567_*12568insAAAAAAAAAAAAAAAAAATATGTATATATATA TATATATA	DCUN1D5	ENSG00000137692.12	transcript	ENST00000260247.10	protein_coding		894		chr11	TogoVar
DCXR_chr17_82030858_82042697	82034798	C C	CGGAGCCA others(33): Show CGGAGCCATGGTCCCGGGATTGGAGTCACTCGGGATTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG03195.hp1 others(2): Show HG01243.hp2 HG02559.hp2 HG03195.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	420	0.0119	40	c.11 others(51): Show c.1161_*1162insCTCCAATCCCGAGTGACTCCAATCCCGGGACCAT GGCTCC	DCXR	ENSG00000169738.8	transcript	ENST00000306869.7	protein_coding		1059		chr17	TogoVar
DCXR_chr17_82030858_82042697	82034848	A A	AGGTCCCG others(33): Show AGGTCCCGGGATTGGAGTCACTCGGGATTGGAGGGAGCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(91): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00621.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG03704.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18948.hp2 NA18955.hp1 NA18959.hp1 NA18963.hp2 NA18964.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp2 NA19004.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19064.hp1 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0006 a0004c0008	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0003c0006t0001 a0004c0008t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(9): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0004t0001g0007 a0001c0005t0001g0009 a0003c0006t0001g0014 a0004c0008t0001g0016	94	414	0.2271	40	c.11 others(51): Show c.1111_*1112insACGGCTCCCTCCAATCCCGAGTGACTCCAATCCC GGGACC	DCXR	ENSG00000169738.8	transcript	ENST00000306869.7	protein_coding		1009		chr17	TogoVar
DCXR_chr17_82030858_82042697	82034848	A A	AGGTCCCG others(33): Show AGGTCCCGGGATTGGAGTCACTCGGGATTGGAGGGGGCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02615.hp1 HG02809.hp1 others(3): Show HG01261.hp1 HG02615.hp1 HG02809.hp1 HG03195.hp2 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0011 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0011 a0001c0002t0001g0012	6	326	0.0184	40	c.11 others(51): Show c.1111_*1112insACGGCCCCCTCCAATCCCGAGTGACTCCAATCCC GGGACC	DCXR	ENSG00000169738.8	transcript	ENST00000306869.7	protein_coding		1009		chr17	TogoVar
DDA1_chr19_17304563_17328298	17317832	C C	CTGTCTCT others(33): Show CTGTCTCTAGAAAATAAAAATAAGAGGGTGTAGTTGCAGCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03209.hp2 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0195 a0001c0001t0012g0214 a0001c0001t0012g0195 a0001c0001t0012g0214	2	386	0.0052	40	c.199 others(57): Show c.199-1713_199-1674dupTGTCTCTAGAAAATAAAAATAAGAGGGT GTAGTTGCAGCG	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX10_chr11_108660069_108945927	108851622	G G	GTTAATGT others(33): Show GTTAATGTTTAACCCCTGAATGTTAACATTTTTATTTTTAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02258.hp2 HG03453.hp2 others(1): Show HG01123.hp1 HG02258.hp2 HG03453.hp2 HG03486.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0014 a0001c0001 a0003c0014	a0001c0001t0001 a0003c0014t0001 a0001c0001t0001 a0003c0014t0001	a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0003c0014t0001g0091	4	318	0.0126	40	c.224 others(57): Show c.2248-529_2248-490dupTAATGTTTAACCCCTGAATGTTAACATT TTTATTTTTATT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DDX23_chr12_48824756_48857163	48842098	C C	CCTCCGCC others(33): Show CCTCCGCCTGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19085.hp2 NA18954.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0138 a0001c0002t0002g0146 a0001c0002t0002g0138 a0001c0002t0002g0146	2	346	0.0058	40	c.320 others(57): Show c.320+1802_320+1841dupACGCTCCTCACTTCCCAGACGGGGTGGC TGCCAGGCGGAG	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DDX23_chr12_48824756_48857163	48842106	T T	TGGCAGCC others(33): Show TGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(151): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0004t0002	a0001c0002t0001g0042 a0001c0002t0001g0074 a0001c0002t0001g0158 others(83): Show a0001c0002t0001g0042 a0001c0002t0001g0074 a0001c0002t0001g0158 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0145 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0003g0005 a0001c0002t0003g0043 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0072 a0001c0002t0003g0178 a0001c0002t0005g0012 a0001c0002t0005g0062 a0001c0002t0005g0063 a0001c0002t0008g0020 a0001c0002t0008g0054 a0001c0002t0008g0055 a0001c0002t0009g0021 a0001c0002t0011g0073 a0001c0004t0002g0143 a0001c0004t0002g0144	154	345	0.4464	40	c.320 others(57): Show c.320+1794_320+1833dupGGGCGGAGACGCTCCTCACTTCCCAGAC GGGGTGGCTGCC	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DDX23_chr12_48824756_48857163	48842106	T T	TGGCAGCC others(33): Show TGGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	192	0.0052	40	c.320 others(57): Show c.320+1833_320+1834insGGGCAGAGACGCTCCTCACTTCCCAGAC GGGGTGGCTGCC	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DDX23_chr12_48824756_48857163	48842147	G G	GGCAGCCA others(33): Show GGCAGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCA	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	346	0.0029	40	c.320 others(57): Show c.320+1792_320+1793insTGGGCGGAGACGCTCCTCACTTCCCAGA CGGGGTGGCTGC	DDX23	ENSG00000174243.11	transcript	ENST00000308025.8	protein_coding	3/16			chr12	TogoVar
DDX28_chr16_68015916_68028232	68020851	G G	GTATGTAT others(33): Show GTATGTATGTGTATATATATATATATATATATATACGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0000 a0005c0008t0001g0000	1	280	0.0036	40	c.72 others(49): Show c.728_*729insTATACGTATATATATATATATATATATATACACATA CATA	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		64		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19085.hp2 NA20805.hp2 NA18960.hp1 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0005 a0001c0001t0001g0284 a0001c0001t0004g0196 a0001c0001t0001g0005 a0001c0001t0001g0284 a0001c0001t0004g0196	3	130	0.0231	40	c.144 others(57): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632256	A A	ACACACAC others(33): Show ACACACACACACACACACACACACACACACACACAGTCCTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	397	0.0025	40	c.144 others(57): Show c.1441-166_1441-165insCAGGACTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTG	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX42_chr17_63769170_63824317	63771045	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	95	0.0105	40	c.-33 others(51): Show c.-3348_-3347insAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3124		chr17	TogoVar
DDX50_chr10_68896315_68951847	68931426	T T	TATATATA others(33): Show TATATATATATATGTATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19010.hp2 NA18972.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0173 a0001c0001t0001g0174	2	8	0.2500	40	c.124 others(59): Show c.1240-2772_1240-2771insTATATATATATGTATATATATATATA CACACACACACACA	DDX50	ENSG00000107625.14	transcript	ENST00000373585.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
DEAF1_chr11_639233_700222	690266	C C	CAGGAGAG others(33): Show CAGGAGAGGGGAGGGGAGGGCAGGGCAGGGGAGGGCAGGGG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02071.hp1 NA18960.hp1 others(2): Show HG01346.hp2 HG02071.hp1 NA18960.hp1 NA18962.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0137 a0001c0003t0001g0146 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0137 a0001c0003t0001g0146 a0001c0003t0001g0184 a0001c0003t0001g0185	5	89	0.0562	40	c.387 others(57): Show c.387+1234_387+1235insCCCCTGCCCTCCCCTGCCCTGCCCTCCC CTCCCCTCTCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690341	C C	CAGGGGAG others(33): Show CAGGGGAGGGCAGGGGAGGGCAGGGGAGGGCAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18970.hp2 NA18995.hp1 others(2): Show HG02004.hp1 NA18970.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0002g0134	5	205	0.0244	40	c.387 others(57): Show c.387+1159_387+1160insCCCCTCCCCTGCCCTCCCCTGCCCTCCC CTGCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEAF1_chr11_639233_700222	690341	C C	CAGGGGAG others(33): Show CAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	201	0.0050	40	c.387 others(57): Show c.387+1159_387+1160insCCCCTCCCCTCCCCTCCCCTGCCCTCCC CTGCCCTCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DEFA3_chr8_7010869_7023297	7012465	T T	TTTTCTTT others(33): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01168.hp1 HG01081.hp2 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	424	0.0047	40	c.35 others(51): Show c.3524_*3525insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	DEFA3	ENSG00000239839.7	transcript	ENST00000327857.7	protein_coding		3403		chr8	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	177	0.0056	40	c.48 others(51): Show c.4885_*4886insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02630.hp2 HG03486.hp1 others(1): Show HG01123.hp2 HG02630.hp2 HG03486.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0128 a0001c0001t0002g0135 others(1): Show a0001c0001t0002g0091 a0001c0001t0002g0128 a0001c0001t0002g0135 a0001c0001t0002g0140	4	200	0.0200	40	c.59- others(53): Show c.59-944_59-943insATATATATATATATATATATATATATATATAT ATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DEFB128_chr20_182853_194711	183617	G G	GGAAAAGA others(33): Show GGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG02280.hp2 HG01168.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	453	0.0044	40	c.42 others(51): Show c.4268_*4269insTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTC	DEFB128	ENSG00000185982.7	transcript	ENST00000334391.5	protein_coding		4235		chr20	TogoVar
DEFB131A_chr4_9439414_9455666	9450258	G G	GAAAGTTC others(33): Show GAAAGTTCTGTAATGTTTTTAATTTATTATAAAACATTTCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	422	0.0024	40	c.59- others(52): Show c.59-101_59-62dupAAAGTTCTGTAATGTTTTTAATTTATTATAAAA CATTTCA	DEFB131A	ENSG00000186146.2	transcript	ENST00000334879.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
DENND1A_chr9_123374658_123935126	123495135	G G	GTCTCTCT others(33): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0125 a0001c0005t0005g0125	1	157	0.0064	40	c.994 others(59): Show c.994-37239_994-37238insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(33): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02602.hp1 HG02717.hp1 HG02165.hp2 HG02602.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0031 a0001c0001t0003g0045 a0001c0001t0003g0050 a0001c0001t0001g0031 a0001c0001t0003g0045 a0001c0001t0003g0050	3	23	0.1304	40	c.994 others(59): Show c.994-37245_994-37244insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123552018	C C	CGAGAGAG others(33): Show CGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	146	0.0068	40	c.993 others(57): Show c.993+5551_993+5552insTCTCTCTCTCTCTCTCTCTCTGTCTCTC TCTCTCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711495	A A	ATATATGT others(33): Show ATATATGTATATATGTATATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02683.hp1 HG04184.hp2 HG00558.hp1 HG02683.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0004g0099 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0004g0099	3	157	0.0191	40	c.303 others(59): Show c.303-34707_303-34706insCATATATACATATATATATATATATA CATATATACATATA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND5A_chr11_9133825_9270350	9199059	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	180	0.0056	40	c.949 others(57): Show c.949+4600_949+4601insATTATTATTATTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	4/22			chr11	TogoVar
DENND5A_chr11_9133825_9270350	9199059	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0117 a0002c0002t0002g0117	1	180	0.0056	40	c.949 others(57): Show c.949+4600_949+4601insATTATTATTATTATTTTTTTTTTTTTTT TTTTTTTTTTTT	DENND5A	ENSG00000184014.9	transcript	ENST00000328194.8	protein_coding	4/22			chr11	TogoVar
DENND6A_chr3_57620454_57698077	57644787	T T	TGGGGAGG others(33): Show TGGGGAGGGGAGGGGAGGGGTGGGGAGGGGAGGGGTGGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0258 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0258	3	328	0.0091	40	c.103 others(57): Show c.1037+873_1037+874insTCCCCACCCCTCCCCTCCCCACCCCTCC CCTCCCCTCCCC	DENND6A	ENSG00000174839.13	transcript	ENST00000311128.10	protein_coding	11/19			chr3	TogoVar
DEPDC1B_chr5_60591912_60705166	60667881	A A	ATATATAA others(33): Show ATATATAAAAAATGGATATTTTATATAAAAAATGGATATTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	289	0.0035	40	c.314 others(59): Show c.314+19080_314+19081insAAATATCCATTTTTTATATAAAATAT CCATTTTTTATATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DEPDC5_chr22_31749019_31913033	31902408	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0185 a0001c0002t0003g0185	1	39	0.0256	40	c.443 others(57): Show c.4436+634_4436+635insTATATATATATATATATATATATATATA TATATATATATA	DEPDC5	ENSG00000100150.20	transcript	ENST00000651528.2	protein_coding	41/42		INFO_REALIGN_3_PRIME	chr22	TogoVar
DEPTOR_chr8_119868722_120055918	120002791	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0166 a0003c0004t0002g0166	1	42	0.0238	40	c.791 others(55): Show c.791-185_791-184insAATATATATATATATATATATATATATATA TATATATATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DEPTOR_chr8_119868722_120055918	120021058	C C	CAAAATAA others(33): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01952.hp2 HG03516.hp1 others(4): Show HG01884.hp1 HG01952.hp2 HG03516.hp1 HG03669.hp2 HG04204.hp2 NA18612.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003	a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0067 others(4): Show a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0001g0075 a0001c0003t0001g0032 a0001c0003t0001g0154 a0001c0003t0003g0013	7	52	0.1346	40	c.110 others(61): Show c.1101+11956_1101+11957insAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATA	DEPTOR	ENSG00000155792.10	transcript	ENST00000286234.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
DERA_chr12_15906332_16042381	15936957	T T	TGTCCTGT others(33): Show TGTCCTGTCCTGTCCTGTCCTGTCTTGTCCTGTCCCGTCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	233	0.0043	40	c.32- others(57): Show c.32-19978_32-19977insTCCTGTCCTGTCCTGTCCTGTCTTGTCC TGTCCCGTCCCG	DERA	ENSG00000023697.13	transcript	ENST00000428559.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(33): Show GGGTGGGGGGGGTGGGGGGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	194	0.0052	40	c.67 others(51): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCCCCCCACCCCC CCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(33): Show GGGTGGGGGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01517.hp1 HG01934.hp1 others(9): Show HG00544.hp1 HG01517.hp1 HG01934.hp1 HG02965.hp1 HG03834.hp1 NA18942.hp2 NA18957.hp2 NA18966.hp2 NA18981.hp2 NA19002.hp2 NA19056.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0108 a0001c0001t0001g0146 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0108 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0056 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0126	12	205	0.0585	40	c.67 others(51): Show c.6761_*6762insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCCC CCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar
DESI1_chr22_41593028_41626043	41594335	G G	GGGTGGGG others(33): Show GGGTGGGGGGGTGGGGGGGCGGTGGGGGGGGTGGGGGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	194	0.0052	40	c.67 others(51): Show c.6761_*6762insGCCTCCCCCACCCCCCCCACCGCCCCCCCACCCC CCCACC	DESI1	ENSG00000100418.8	transcript	ENST00000263256.7	protein_coding		3692		chr22	TogoVar

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