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
DIP2B_chr12_50499985_50753657	50593784	C C	CCCCCTCC others(44): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCC CT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	35	0.0286	51	c.101 others(70): Show c.101-32186_101-32185insCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50593850	C C	CCCCTCTC others(44): Show CCCCTCTCCCCTCCCCTCCCCGTCCCCCTCCCCCTCCCCTCCCCTCCCCT CT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0233 a0001c0002t0004g0233	1	232	0.0043	51	c.101 others(70): Show c.101-32124_101-32123insCTCTCCCCTCCCCTCCCCGTCCCCCT CCCCCTCCCCTCCCCTCCCCTCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598754	T T	TCTCCCCC others(44): Show TCTCCCCCTCCCCTCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	132	0.0076	51	c.101 others(70): Show c.101-27221_101-27220insTCCCCCTCCCCTCTCCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIS3L2_chr2_231956713_232342192	232333176	G G	GCCTCCTC others(44): Show GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0192 a0002c0004t0001g0192	1	67	0.0149	51	c.201 others(68): Show c.2011-620_2011-619insTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0157 a0001c0003t0004g0157	1	11	0.0909	51	c.558 others(66): Show c.558+251_558+252insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0170 a0001c0003t0004g0170	1	11	0.0909	51	c.558 others(66): Show c.558+251_558+252insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0167 a0001c0003t0004g0167	1	11	0.0909	51	c.558 others(66): Show c.558+251_558+252insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DIS3L_chr15_66288568_66338898	66309094	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01168.hp1 HG00642.hp2 HG01168.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0146 a0001c0003t0004g0147 a0001c0003t0004g0146 a0001c0003t0004g0147	2	12	0.1667	51	c.558 others(66): Show c.558+251_558+252insAAAAAAAAAAATATATATATATATATATAT ATATATATATATATATATATA	DIS3L	ENSG00000166938.13	transcript	ENST00000319212.9	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr15	TogoVar
DISP2_chr15_40353219_40383621	40374014	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 NA18973.hp1 HG00639.hp2 NA18973.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0048 a0001c0003t0048	a0001c0003t0048g0003 a0001c0003t0048g0003	2	147	0.0136	51	c.36 others(62): Show c.3697_*3698insAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATATA	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding	8/8	3698	INFO_REALIGN_3_PRIME	chr15	TogoVar
DLGAP2_chr8_732628_1713476	795939	C C	CGTCCAGT others(44): Show CGTCCAGTGAGAGCAGGCGTCCAGTGAGAGCAGGCGTCCAGTGAGAGCAG CT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01891.hp1 HG01891.hp2 others(7): Show HG01071.hp2 HG01891.hp1 HG01891.hp2 HG02258.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0011 a0002c0001 a0001c0003 a0001c0011 a0002c0001	a0001c0003t0001 a0001c0003t0014 a0001c0003t0024 others(5): Show a0001c0003t0001 a0001c0003t0014 a0001c0003t0024 a0001c0011t0015 a0002c0001t0002 a0002c0001t0005 a0002c0001t0011 a0002c0001t0019	a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 others(7): Show a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0011t0015g0001 a0002c0001t0002g0032 a0002c0001t0005g0029 a0002c0001t0005g0035 a0002c0001t0011g0002 a0002c0001t0019g0031	10	32	0.3125	51	c.18+ others(68): Show c.18+58149_18+58199dupGTCCAGTGAGAGCAGCTGTCCAGTGAGA GCAGGCGTCCAGTGAGAGCAGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	795956	C C	CGTCCAGT others(44): Show CGTCCAGTGAGAGCAGGCGTCCAGTGAGAGCAGCTGTCCAGTGAGAGCAG GT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01361.hp2 others(13): Show HG00639.hp1 HG00639.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG02258.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp2 HG02976.hp2 HG03486.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(5): Show a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0002c0001 a0002c0004 a0002c0006 a0003c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0022 a0001c0002t0023 a0001c0003t0006 a0001c0009t0012 a0001c0010t0025 a0002c0001t0002 a0002c0001t0003 a0002c0004t0003 a0002c0004t0018 a0002c0006t0021 a0003c0005t0004	a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 others(13): Show a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0002g0022 a0001c0002t0010g0008 a0001c0002t0022g0034 a0001c0002t0023g0005 a0001c0003t0006g0033 a0001c0009t0012g0006 a0001c0010t0025g0012 a0002c0001t0002g0013 a0002c0001t0003g0017 a0002c0001t0003g0021 a0002c0004t0003g0009 a0002c0004t0018g0010 a0002c0006t0021g0014 a0003c0005t0004g0037	16	34	0.4706	51	c.18+ others(68): Show c.18+58181_18+58182insTGTCCAGTGAGAGCAGGCGTCCAGTGAG AGCAGCTGTCCAGTGAGAGCAGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	796006	G G	GTGTCCAG others(44): Show GTGTCCAGTGAGAGCAGGCGTCCAGTGAGAGCAGCTGTCCAGTGAGAGCA GC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0028 a0004c0008t0016g0028	1	40	0.0250	51	c.18+ others(68): Show c.18+58181_18+58182insTGTCCAGTGAGAGCAGGCGTCCAGTGAG AGCAGCTGTCCAGTGAGAGCAGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	993495	G G	GGACCCCC others(44): Show GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTCTCCCACCTTGCC CA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	25	0.0400	51	c.73+ others(68): Show c.73+85565_73+85566insCTCCCACCTTGCCCAGACCCCCTGCACC CCCATACTCGGAGTTCCTGTTCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1275831	A A	AATATATA others(44): Show AATATATAATATATAAATATATATAATATATAAATATATATAATATATAA AT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02698.hp2 HG02976.hp2 others(2): Show HG02258.hp2 HG02698.hp2 HG02976.hp2 HG03486.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0009 others(1): Show a0001c0002 a0001c0003 a0001c0009 a0002c0004	a0001c0002t0001 a0001c0002t0022 a0001c0003t0006 others(2): Show a0001c0002t0001 a0001c0002t0022 a0001c0003t0006 a0001c0009t0012 a0002c0004t0018	a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0006g0033 others(2): Show a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0006g0033 a0001c0009t0012g0006 a0002c0004t0018g0010	5	24	0.2083	51	c.106 others(70): Show c.106+16950_106+17000dupTATATAATATATAAATATATATAATA TATAAATATATATAATATATAAATA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAAF6_chrX_107201611_107249247	107204725	T T	TTTAAATA others(44): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAATTATT TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	294	0.0034	51	c.-19 others(62): Show c.-1969_-1968insTTAAATAAATTTTAAATAAATTATTTAAATAAAT TTTAAATAAATTATTTA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1885		chrX	TogoVar
DNAH11_chr7_21538039_21906839	21789794	T T	TTTCTTTC others(44): Show TTTCTTTCTTTCTCTCTCCTTCCTTCCTTTTTTTTCTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp1 HG02886.hp2 HG03486.hp1	a0133 a0158 a0133 a0158	a0133c0076 a0158c0046 a0133c0076 a0158c0046	a0133c0076t0004 a0158c0046t0023 a0133c0076t0004 a0158c0046t0023	a0133c0076t0004g0084 a0158c0046t0023g0120 a0133c0076t0004g0084 a0158c0046t0023g0120	2	293	0.0068	51	c.100 others(70): Show c.10026+464_10026+465insCTCTCCTTCCTTCCTTTTTTTTCTTT CTTTCTTTCTTTCTTCTTTCTTTCT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(44): Show TCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0016 a0016	a0016c0006 a0016c0006	a0016c0006t0002 a0016c0006t0002	a0016c0006t0002g0298 a0016c0006t0002g0298	1	47	0.0213	51	c.100 others(70): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTCTTTCTT TCTTTCTTTCTTTTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(44): Show TCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTT TC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA20752.hp2 HG01433.hp1 NA20752.hp2	a0002 a0223 a0002 a0223	a0002c0001 a0223c0036 a0002c0001 a0223c0036	a0002c0001t0004 a0223c0036t0003 a0002c0001t0004 a0223c0036t0003	a0002c0001t0004g0253 a0223c0036t0003g0255 a0002c0001t0004g0253 a0223c0036t0003g0255	2	48	0.0417	51	c.100 others(70): Show c.10026+466_10026+467insCTTTCTTTTTTCTTTCTTTCTTTCTT TCTTTCTTTTTTCTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21900387	G G	GACTGAAT others(44): Show GACTGAATTTACATTCTTTTTGCTTTTCAATATAATCATTTCAAAATCTT TC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(31): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01258.hp1 HG01346.hp1 HG01934.hp1 HG01981.hp1 HG02027.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG03490.hp1 HG03516.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04228.hp1 NA18959.hp2 NA18970.hp1 NA18977.hp1 NA18985.hp2 NA19006.hp1 NA19054.hp2 NA19066.hp1 NA20905.hp2	a0003 a0015 a0021 others(29): Show a0003 a0015 a0021 a0031 a0043 a0044 a0045 a0047 a0059 a0062 a0067 a0073 a0075 a0084 a0088 a0092 a0095 a0102 a0105 a0112 a0114 a0120 a0160 a0162 a0169 a0170 a0175 a0187 a0197 a0201 a0205 a0225	a0003c0009 a0015c0011 a0021c0267 others(30): Show a0003c0009 a0015c0011 a0021c0267 a0031c0229 a0031c0237 a0043c0264 a0044c0108 a0045c0234 a0047c0105 a0059c0273 a0062c0193 a0067c0049 a0073c0041 a0075c0038 a0084c0140 a0088c0023 a0092c0025 a0095c0119 a0102c0162 a0105c0111 a0112c0192 a0114c0138 a0120c0245 a0160c0231 a0162c0163 a0169c0206 a0170c0147 a0175c0168 a0187c0230 a0197c0102 a0201c0073 a0205c0040 a0225c0045	a0003c0009t0004 a0015c0011t0005 a0021c0267t0005 others(30): Show a0003c0009t0004 a0015c0011t0005 a0021c0267t0005 a0031c0229t0005 a0031c0237t0005 a0043c0264t0005 a0044c0108t0004 a0045c0234t0005 a0047c0105t0010 a0059c0273t0016 a0062c0193t0004 a0067c0049t0005 a0073c0041t0004 a0075c0038t0005 a0084c0140t0004 a0088c0023t0005 a0092c0025t0005 a0095c0119t0005 a0102c0162t0009 a0105c0111t0004 a0112c0192t0005 a0114c0138t0005 a0120c0245t0005 a0160c0231t0005 a0162c0163t0005 a0169c0206t0004 a0170c0147t0009 a0175c0168t0009 a0187c0230t0010 a0197c0102t0005 a0201c0073t0010 a0205c0040t0005 a0225c0045t0004	a0003c0009t0004g0275 a0015c0011t0005g0014 a0015c0011t0005g0018 others(31): Show a0003c0009t0004g0275 a0015c0011t0005g0014 a0015c0011t0005g0018 a0021c0267t0005g0186 a0031c0229t0005g0207 a0031c0237t0005g0201 a0043c0264t0005g0146 a0044c0108t0004g0068 a0045c0234t0005g0212 a0047c0105t0010g0024 a0059c0273t0016g0149 a0062c0193t0004g0188 a0067c0049t0005g0252 a0073c0041t0004g0274 a0075c0038t0005g0260 a0084c0140t0004g0050 a0088c0023t0005g0119 a0092c0025t0005g0262 a0095c0119t0005g0107 a0102c0162t0009g0054 a0105c0111t0004g0278 a0112c0192t0005g0197 a0114c0138t0005g0011 a0120c0245t0005g0127 a0160c0231t0005g0192 a0162c0163t0005g0089 a0169c0206t0004g0173 a0170c0147t0009g0273 a0175c0168t0009g0121 a0187c0230t0010g0203 a0197c0102t0005g0093 a0201c0073t0010g0291 a0205c0040t0005g0059 a0225c0045t0004g0280	34	296	0.1149	51	c.133 others(70): Show c.13303+268_13303+318dupACTGAATTTACATTCTTTTTGCTTTT CAATATAATCATTTCAAAATCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	81/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0106 a0004c0004t0001g0106	1	59	0.0169	51	c.133 others(70): Show c.1335+1673_1335+1674insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78541141	G G	GTGGGGGG others(44): Show GTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGATGGGGGGGTGAGCGG GA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0070 a0070	a0070c0211 a0070c0211	a0070c0211t0001 a0070c0211t0001	a0070c0211t0001g0135 a0070c0211t0001g0135	1	242	0.0041	51	c.253 others(70): Show c.2533-1262_2533-1261insTCCCGCTCACCCCCCCATCCCGCTCA CCCCCCCACCCCGCTCACCCCCCCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(44): Show GGGGGGGGAGGGAGGGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	170	0.0059	51	c.324 others(68): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCTCTCCCTCCCTCCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAI7_chr12_25103289_25200160	25169175	G G	GGTTCCTG others(44): Show GGTTCCTGCCTTAACTGATGACATTCCACCACAAAAGAAGTGAAAATGGC CT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0296 a0002c0002t0001g0296	1	334	0.0030	51	c.22- others(66): Show c.22-8029_22-7979dupAGGCCATTTTCACTTCTTTTGTGGTGGAAT GTCATCAGTTAAGGCAGGAAC	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJC13_chr3_132412502_132544032	132471021	A A	ACCCCCCC others(44): Show ACCCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGTCGGGGGGGCTG AC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0235	1	314	0.0032	51	c.220 others(70): Show c.2209-2103_2209-2102insTGGCACGGCTGGCCGGTCGGGGGGGC TGACCCCCCCCACCTCCCTCCCGGA	DNAJC13	ENSG00000138246.17	transcript	ENST00000260818.11	protein_coding	20/55		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACAGAGACAGA CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	233	0.0043	51	c.29 others(62): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAG ACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237126	G G	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGA CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 NA19007.hp1 NA19077.hp1 others(1): Show HG02559.hp1 NA19007.hp1 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	236	0.0169	51	c.29 others(62): Show c.2942_*2943insAGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAG ACAGACAGAGACAGACA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2846		chr11	TogoVar
DNAJC6_chr1_65304543_65420871	65368706	C C	CCTCTTCC others(44): Show CCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTTCTTCTTCCTC TT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp2 HG03195.hp2 others(1): Show HG01884.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0007 a0003c0007t0022 others(1): Show a0003c0007t0001 a0003c0007t0007 a0003c0007t0022 a0003c0007t0023	a0003c0007t0001g0172 a0003c0007t0007g0221 a0003c0007t0022g0040 others(1): Show a0003c0007t0001g0172 a0003c0007t0007g0221 a0003c0007t0022g0040 a0003c0007t0023g0039	4	100	0.0400	51	c.543 others(68): Show c.543+2512_543+2513insCTTCCTCCTCCTCTTCCTCCTCCTCTTC CTCCTCCTTCTTCTTCCTCTTCT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNASE2B_chr1_84393484_84420018	84417592	G G	GTATTTCA others(44): Show GTATTTCAGTAAAATCTACTAATTTACTCTTTTTTTTTTTATTCATACTT TA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	423	0.0024	51	c.27 others(62): Show c.2724_*2725insTATTTCAGTAAAATCTACTAATTTACTCTTTTTT TTTTTATTCATACTTTA	DNASE2B	ENSG00000137976.8	transcript	ENST00000370665.4	protein_coding		2575		chr1	TogoVar
DOCK10_chr2_224760090_225047468	225018621	T T	TTATATAT others(44): Show TTATATATATATAATATATATGTAATATATATATAATATATATGTAATAT TA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG03041.hp1 HG02109.hp1 HG02886.hp1 HG03041.hp1	a0002 a0007 a0013 a0002 a0007 a0013	a0002c0008 a0007c0011 a0013c0019 a0002c0008 a0007c0011 a0013c0019	a0002c0008t0001 a0007c0011t0001 a0013c0019t0012 a0002c0008t0001 a0007c0011t0001 a0013c0019t0012	a0002c0008t0001g0169 a0007c0011t0001g0170 a0013c0019t0012g0043 a0002c0008t0001g0169 a0007c0011t0001g0170 a0013c0019t0012g0043	3	160	0.0188	51	c.123 others(70): Show c.123+23630_123+23631insTAATATTACATATATATTATATATAT ATTACATATATATTATATATATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK1_chr10_126900428_127457516	127093239	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTCTTTCTTT CT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0120 a0001c0004t0002g0120	1	107	0.0093	51	c.244 others(72): Show c.2446-12990_2446-12989insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTCTTTTCTTTCTTTCTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127428974	A A	ATGTGGAT others(44): Show ATGTGGATTGGGGTGCCGTGTGGATTGGGGTGCCGTGTGGATTGGGGTGC CG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp1 HG00738.hp2 others(12): Show HG00423.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01361.hp2 HG01978.hp2 HG02273.hp1 HG02486.hp2 HG02602.hp2 HG02683.hp1 HG03704.hp1 HG03834.hp2 NA18943.hp1 NA18943.hp2 NA19090.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0002 a0001c0005 a0001c0008 others(7): Show a0001c0002 a0001c0005 a0001c0008 a0001c0015 a0001c0040 a0001c0042 a0001c0049 a0002c0010 a0005c0066 a0006c0072	a0001c0002t0001 a0001c0005t0001 a0001c0005t0006 others(9): Show a0001c0002t0001 a0001c0005t0001 a0001c0005t0006 a0001c0008t0002 a0001c0008t0014 a0001c0015t0001 a0001c0040t0001 a0001c0042t0006 a0001c0049t0002 a0002c0010t0005 a0005c0066t0003 a0006c0072t0002	a0001c0002t0001g0096 a0001c0005t0001g0022 a0001c0005t0001g0111 others(12): Show a0001c0002t0001g0096 a0001c0005t0001g0022 a0001c0005t0001g0111 a0001c0005t0006g0084 a0001c0005t0006g0134 a0001c0008t0002g0075 a0001c0008t0002g0089 a0001c0008t0014g0072 a0001c0015t0001g0068 a0001c0040t0001g0010 a0001c0042t0006g0018 a0001c0049t0002g0017 a0002c0010t0005g0083 a0005c0066t0003g0073 a0006c0072t0002g0080	15	65	0.2308	51	c.491 others(70): Show c.4914+2991_4914+2992insGTGCCGTGTGGATTGGGGTGCCGTGT GGATTGGGGTGCCGTGTGGATTGGG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	47/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK5_chr8_25179689_25420711	25216257	A A	ATGTATAC others(44): Show ATGTATACAATATGTGTATACAATATGTATATATGTATACAATATGTATA TG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG02723.hp1 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0069 a0001c0004t0016 a0001c0004t0069	a0001c0004t0016g0097 a0001c0004t0069g0175 a0001c0004t0016g0097 a0001c0004t0069g0175	2	191	0.0105	51	c.44- others(68): Show c.44-27402_44-27401insTATACAATATGTATATATGTATACAATA TGTATATGTGTATACAATATGTG	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25216353	A A	ATGTATAC others(44): Show ATGTATACAATATGTATATGTGTATACAATATGTGTATACAATATGTATA TG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0046 a0001c0012t0046	a0001c0012t0046g0006 a0001c0012t0046g0006	1	208	0.0048	51	c.44- others(68): Show c.44-27307_44-27306insATATGTGTATACAATATGTGTATACAAT ATGTATATGTGTATACAATATGT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400044	C C	CTCCACCA others(44): Show CTCCACCATCACCACCATCTTCACCACCACCACCACCTCCACCACCAGCA CT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0005 a0005	a0005c0145 a0005c0145	a0005c0145t0001 a0005c0145t0001	a0005c0145t0001g0172 a0005c0145t0001g0172	1	203	0.0049	51	c.323 others(68): Show c.3234+800_3234+801insATCTTCACCACCACCACCACCTCCACCA CCAGCACTTCCACCATCACCACC	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(44): Show CCACCACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACC AT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0066 a0002c0122 a0001c0066 a0002c0122	a0001c0066t0001 a0002c0122t0002 a0001c0066t0001 a0002c0122t0002	a0001c0066t0001g0006 a0002c0122t0002g0232 a0001c0066t0001g0006 a0002c0122t0002g0232	2	158	0.0127	51	c.323 others(68): Show c.3234+845_3234+846insTCCACCATCACCACCTCCTCCATCACCA CCACCATCTTCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400303	T T	TCCCCCAC others(44): Show TCCCCCACTACCAACAGCTCCTTCACCATCACCACAATATCCACCACCAC CA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0115 a0002c0115	a0002c0115t0001 a0002c0115t0001	a0002c0115t0001g0037 a0002c0115t0001g0037	1	245	0.0041	51	c.323 others(70): Show c.3234+1044_3234+1045insCCCCCACTACCAACAGCTCCTTCACC ATCACCACAATATCCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400310	T T	TCACCACC others(44): Show TCACCACCACCTTCACCATCACCACCTTCACCATCACCACCACCTCCACC AC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0065 a0001c0029t0001g0065	1	220	0.0045	51	c.323 others(70): Show c.3234+1062_3234+1063insTCACCATCACCACCTTCACCATCACC ACCACCTCCACCACCACCACCACCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400620	C C	CCACCACC others(44): Show CCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACC AT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03834.hp1 NA19060.hp2 HG03831.hp2 HG03834.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0060 a0002c0005 a0001c0003 a0001c0060 a0002c0005	a0001c0003t0001 a0001c0060t0001 a0002c0005t0001 a0001c0003t0001 a0001c0060t0001 a0002c0005t0001	a0001c0003t0001g0107 a0001c0060t0001g0080 a0002c0005t0001g0192 a0001c0003t0001g0107 a0001c0060t0001g0080 a0002c0005t0001g0192	3	200	0.0150	51	c.323 others(70): Show c.3234+1366_3234+1367insCCACCTCCACCACCAGCACTTCCACC ATCACCACCTCCTTCACCATCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400849	C C	CATCGCCC others(44): Show CATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCA AT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0005 a0001c0055t0005	a0001c0055t0005g0086 a0001c0055t0005g0086	1	245	0.0041	51	c.323 others(70): Show c.3234+1593_3234+1594insGCCCTGCCCACCTCTAGCAATATTAT CACCTTTCCTATCACCTCCAATATC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPCD_chr10_101583321_101614662	101607179	G G	GGGAAGAT others(44): Show GGGAAGATGTTAACACTTCCTAACAAGTCTTTGTGTTCATCTAATCTCTG CT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	340	0.0029	51	c.405 others(68): Show c.405-1654_405-1604dupGAAGATGTTAACACTTCCTAACAAGTCT TTGTGTTCATCTAATCTCTGCTG	DPCD	ENSG00000166171.13	transcript	ENST00000370151.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619586	G G	GCCCCCCC others(44): Show GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	239	0.0042	51	c.-10 others(70): Show c.-107+5867_-107+5868insCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCGCTCCCCTCCCTGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPP6_chr7_154047398_154899285	154749764	T T	TTTACTGT others(44): Show TTTACTGTGAGAGTGTGAGGAAGCATAGGACGGGAAAGAGAGGGATGGGG CA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0023 a0002c0022t0023	a0002c0022t0023g0027 a0002c0022t0023g0027	1	38	0.0263	51	c.884 others(70): Show c.884-19647_884-19646insTGAGAGTGTGAGGAAGCATAGGACGG GAAAGAGAGGGATGGGGCATTACTG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP9_chr19_4670227_4728842	4670512	T T	TGCCGAGG others(44): Show TGCCGAGGGGGCGGGGCCGCCGAGGGGGCGGGGCCGCCGAGGGGGCGGGG CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	288	0.0035	51	c.60 others(62): Show c.6051_*6052insGGCCCCGCCCCCTCGGCGGCCCCGCCCCCTCGGC GGCCCCGCCCCCTCGGC	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		4714		chr19	TogoVar
DTNA_chr18_34705298_34896844	34790567	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0007 a0001c0001t0012g0007	1	30	0.0333	51	c.149 others(68): Show c.149-3469_149-3468insATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTWD2_chr5_118831074_118993547	118891024	A A	AAATACGT others(44): Show AAATACGTACATATTTATACAACAACTTTACCAATAAAGAGATTTCATTA GT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	240	0.0042	51	c.597 others(70): Show c.597+37462_597+37512dupACTAATGAAATCTCTTTATTGGTAAA GTTGTTGTATAAATATGTACGTATT	DTWD2	ENSG00000169570.10	transcript	ENST00000510708.6	protein_coding	4/5			chr5	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(44): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT TT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0069 a0003c0005t0001g0069	1	174	0.0057	51	c.908 others(68): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTTTTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUXA_chr19_57149021_57172485	57171993	C C	CGCGAGCG others(44): Show CGCGAGCGGGGGTCCGGGGGGCGGGGGCCGCGAGGGGGGGCGGGGGCCGC GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	423	0.0024	51	c.-45 others(62): Show c.-4551_-4550insTCGCGGCCCCCGCCCCCCCTCGCGGCCCCCGCCC CCCGGACCCCCGCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4509		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGC others(44): Show GGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18944.hp2 NA18945.hp2 others(3): Show NA18612.hp1 NA18944.hp2 NA18945.hp2 NA18956.hp1 NA19007.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0269 a0001c0001t0001g0338	6	344	0.0174	51	c.-46 others(62): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCGCGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172071	G G	GGGGGCGT others(44): Show GGGGGCGTGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGCGCGAGGGG GC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	339	0.0029	51	c.-46 others(62): Show c.-4629_-4628insGCCCCCTCGCGCGCCCCGCCCCCTCGCGCGCCCC GCCCCCTCGCACGCCCC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4587		chr19	TogoVar
DUXA_chr19_57149021_57172485	57172078	C C	CGCGAGGG others(44): Show CGCGAGGGGGCGGGGCGCGCGAGGGGGCGGGGCGTGCGAGGGGGCGGGGC GT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18960.hp1 HG00423.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0037 a0001c0001t0001g0002 a0001c0001t0002g0037	2	432	0.0046	51	c.-46 others(62): Show c.-4636_-4635insACGCCCCGCCCCCTCGCACGCCCCGCCCCCTCGC GCGCCCCGCCCCCTCGC	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding		4594		chr19	TogoVar

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