Joint Open Genome and Omics Platform (JoGo)

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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

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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
NRIP1_chr21_14956235_15070000	15030805	G G	GACATTCC others(43): Show GACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG03209.hp2 others(1): Show HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03540.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0013 a0001c0001 a0013c0013	a0001c0001t0017 a0013c0013t0017 a0001c0001t0017 a0013c0013t0017	a0001c0001t0017g0158 a0001c0001t0017g0159 a0001c0001t0017g0161 others(1): Show a0001c0001t0017g0158 a0001c0001t0017g0159 a0001c0001t0017g0161 a0013c0013t0017g0160	4	398	0.0101	50	c.-45 others(71): Show c.-458+12689_-458+12690insGGTGAACCTCCAACCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030864	C C	CTTCTATG others(43): Show CTTCTATGTGTGTACACTCTGGAAGGCGTTCGGAGGATCACCACATTCCC T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02080.hp2 HG02040.hp2 HG02080.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0008 a0002c0003t0027 a0001c0002t0008 a0002c0003t0027	a0001c0002t0008g0266 a0002c0003t0027g0030 a0001c0002t0008g0266 a0002c0003t0027g0030	2	398	0.0050	50	c.-45 others(71): Show c.-458+12630_-458+12631insAGGGAATGTGGTGATCCTCCGAAC GCCTTCCAGAGTGTACACACATAGAA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030875	G G	GTACACTC others(43): Show GTACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGT A	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19009.hp2 HG02083.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0317 a0001c0001t0001g0073 a0001c0001t0001g0317	2	398	0.0050	50	c.-45 others(71): Show c.-458+12619_-458+12620insTACACATAGAAAGGGAATGTGGTG ATCCTCCGAGCGCCTTCCAGAGTGTA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(43): Show CACATTCCCCTTCTATGTGTGTACACTCTGGAAGGCGGTTGGAGGTTCAC T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp2 HG02257.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	398	0.0050	50	c.-45 others(71): Show c.-458+12589_-458+12590insAGTGAACCTCCAACCGCCTTCCAG AGTGTACACACATAGAAGGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(43): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp1 HG01255.hp2 others(28): Show HG01081.hp1 HG01255.hp1 HG01255.hp2 HG01891.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02273.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02738.hp1 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18980.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19057.hp1 NA19060.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19083.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0025 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0023 a0001c0002t0026 a0001c0002t0039 a0001c0002t0043 a0001c0004t0052 a0002c0003t0003 a0002c0021t0040	a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 others(28): Show a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0004g0085 a0001c0001t0004g0106 a0001c0001t0004g0110 a0001c0001t0012g0078 a0001c0001t0012g0080 a0001c0001t0012g0108 a0001c0001t0012g0112 a0001c0001t0012g0148 a0001c0001t0025g0383 a0001c0002t0002g0137 a0001c0002t0002g0288 a0001c0002t0005g0145 a0001c0002t0008g0142 a0001c0002t0023g0155 a0001c0002t0026g0013 a0001c0002t0039g0315 a0001c0002t0043g0314 a0001c0004t0052g0384 a0002c0003t0003g0049 a0002c0003t0003g0109 a0002c0021t0040g0131	31	398	0.0779	50	c.-45 others(71): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CCCATTCC others(43): Show CCCATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18945.hp1 NA18947.hp2 others(5): Show HG02074.hp1 NA18945.hp1 NA18947.hp2 NA18963.hp1 NA19001.hp2 NA19006.hp2 NA19062.hp2 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 others(5): Show a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0031 a0002c0003t0003g0059 a0002c0003t0003g0227 a0002c0003t0003g0228	8	398	0.0201	50	c.-45 others(71): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030910	T T	TCCCTTTC others(43): Show TCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCACTACAT C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0172 a0001c0001t0038g0172	1	398	0.0025	50	c.-45 others(71): Show c.-458+12584_-458+12585insGATGTAGTGACCCTCCGAGCGCCT TCCAGAGTGTACACACATAGAAAGGG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030925	G G	GTACACTC others(43): Show GTACACTCTGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGT A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp2 HG01258.hp1 others(4): Show HG01168.hp1 HG01168.hp2 HG01258.hp1 HG02148.hp1 HG03654.hp2 HG03710.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0009 a0001c0001 a0001c0002 a0007c0009	a0001c0001t0021 a0001c0002t0006 a0001c0002t0014 others(1): Show a0001c0001t0021 a0001c0002t0006 a0001c0002t0014 a0007c0009t0005	a0001c0001t0021g0243 a0001c0002t0006g0235 a0001c0002t0006g0236 others(4): Show a0001c0001t0021g0243 a0001c0002t0006g0235 a0001c0002t0006g0236 a0001c0002t0006g0246 a0001c0002t0006g0380 a0001c0002t0014g0242 a0007c0009t0005g0247	7	398	0.0176	50	c.-45 others(71): Show c.-458+12569_-458+12570insTACACATAGAAAGGGAATGTGGTG ATCCTCCGAGCGCCTTCCAGAGTGTA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15030991	G G	GCTCGGAG others(43): Show GCTCGGAGGGTCACTACATTCCCTTTCTATGTGTGTACACTCTGGAAGGC A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00642.hp1 others(36): Show HG00099.hp1 HG00544.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp1 HG01192.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02080.hp1 HG03453.hp2 HG03927.hp1 HG03927.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18977.hp2 NA18989.hp1 NA19001.hp1 NA19003.hp2 NA19056.hp2 NA19062.hp1 NA19068.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19091.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0008	a0001c0001t0001 a0001c0001t0016 a0001c0001t0050 others(7): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0050 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0051 a0002c0003t0003 a0006c0008t0001	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0214 others(33): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0016g0208 a0001c0001t0016g0209 a0001c0001t0016g0210 a0001c0001t0016g0358 a0001c0001t0050g0382 a0001c0002t0002g0011 a0001c0002t0002g0341 a0001c0002t0002g0348 a0001c0002t0005g0213 a0001c0002t0006g0232 a0001c0002t0008g0241 a0001c0002t0051g0381 a0002c0003t0003g0349 a0006c0008t0001g0323	39	398	0.0980	50	c.-45 others(71): Show c.-458+12503_-458+12504insTGCCTTCCAGAGTGTACACACATA GAAAGGGAATGTAGTGACCCTCCGAG	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031053	T T	TACATTCC others(43): Show TACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCAC C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0259 a0001c0002t0014g0259	1	398	0.0025	50	c.-45 others(71): Show c.-458+12441_-458+12442insGGTGATCCTCCGTGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031142	C C	CAGAGGTT others(43): Show CAGAGGTTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGGT T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	398	0.0025	50	c.-45 others(71): Show c.-458+12352_-458+12353insAACCACCTTCCAGAGTGTATACAC ATAGAAAGGGAATGTGGTGAACCTCT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031298	T T	TTCACCAC others(43): Show TTCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGG A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03453.hp1 HG02055.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0001 a0001c0001t0036	a0001c0001t0001g0206 a0001c0001t0036g0207 a0001c0001t0001g0206 a0001c0001t0036g0207	2	398	0.0050	50	c.-45 others(71): Show c.-458+12147_-458+12196dupTCCTCCGAGCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP2_chr12_2820348_2840035	2835190	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	422	0.0024	50	c.-20 others(59): Show c.-208_-207insTCTCTCTCACACACACACACACACACACACACACAC ACACACACACACAC	NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding		156		chr12	TogoVar
NRK_chrX_105817539_105963610	105826368	T T	TTATATAT others(43): Show TTATATATATTATCATATATATAATATATATATATTATCATATATATAAT A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	219	0.0046	50	c.57+ others(65): Show c.57+3499_57+3500insTTATCATATATATAATATATATATATTATC ATATATATAATATATATATA	NRK	ENSG00000123572.17	transcript	ENST00000243300.14	protein_coding	1/28		INFO_REALIGN_3_PRIME	chrX	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0006 a0001c0003t0026g0006	1	116	0.0086	50	c.833 others(69): Show c.833-60032_833-60031insATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	116	0.0086	50	c.833 others(69): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0090 a0001c0004t0007g0090	1	116	0.0086	50	c.833 others(69): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	79763408	C C	CATTCTAT others(43): Show CATTCTATATTTATACATTCTATAATTATACACCCAGTATATTTAATCAT T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01243.hp1 others(6): Show HG01081.hp2 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0002c0005	a0001c0001t0013 a0001c0002t0007 a0001c0002t0011 others(6): Show a0001c0001t0013 a0001c0002t0007 a0001c0002t0011 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0006t0001 a0001c0008t0004 a0002c0005t0016	a0001c0001t0013g0007 a0001c0002t0007g0009 a0001c0002t0011g0016 others(6): Show a0001c0001t0013g0007 a0001c0002t0007g0009 a0001c0002t0011g0016 a0001c0003t0004g0015 a0001c0003t0009g0024 a0001c0004t0001g0005 a0001c0006t0001g0023 a0001c0008t0004g0014 a0002c0005t0016g0022	9	24	0.3750	50	c.401 others(71): Show c.4015-41704_4015-41703insATTCTATATTTATACATTCTATAA TTATACACCCAGTATATTTAATCATT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	19/20			chr14	TogoVar
NSD1_chr5_177128773_177305213	177158998	T T	TTATATAT others(43): Show TTATATATATATATATATGAATGATATATATATATATATATATGAATGAT A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0135 a0001c0003t0011g0135	1	298	0.0034	50	c.927 others(69): Show c.927+22985_927+22986insGAATGATATATATATATATATATATG AATGATATATATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177158998	T T	TTATATAT others(43): Show TTATATATATATATATATGAATGATATATATATATATATATGAATGATAT A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0125 a0001c0003t0007g0125	1	298	0.0034	50	c.927 others(69): Show c.927+22985_927+22986insGAATGATATATATATATATATATGAA TGATATATATATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGTGAGAG others(43): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	130	0.0077	50	c.-30 others(67): Show c.-30+1050_-30+1051insTGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NT5DC4_chr2_112716020_112744095	112732316	G G	GCAGGGGC others(43): Show GCAGGGGCAGGTTCTCCAGTAAATCCCAGGTCTCACTGGCCTGTGTCTTT A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(177): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0012 a0015	a0001c0001 a0001c0020 a0002c0002 others(10): Show a0001c0001 a0001c0020 a0002c0002 a0002c0011 a0003c0003 a0004c0004 a0004c0009 a0005c0006 a0006c0005 a0007c0007 a0011c0012 a0012c0014 a0015c0017	a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 others(13): Show a0001c0001t0001 a0001c0020t0001 a0002c0002t0001 a0002c0011t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0004c0004t0001 a0004c0009t0001 a0005c0006t0001 a0006c0005t0001 a0006c0005t0002 a0007c0007t0001 a0011c0012t0001 a0012c0014t0001 a0015c0017t0001	a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0084 others(125): Show a0001c0001t0001g0066 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0226 a0001c0001t0001g0233 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0266 a0001c0020t0001g0191 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0103 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0264 a0002c0002t0001g0269 a0002c0011t0001g0015 a0002c0011t0001g0263 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0002g0001 a0003c0003t0002g0004 a0003c0003t0002g0020 a0003c0003t0002g0021 a0003c0003t0002g0043 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0004g0078 a0003c0003t0004g0080 a0003c0003t0004g0081 a0004c0004t0001g0079 a0004c0004t0001g0139 a0004c0004t0001g0253 a0004c0004t0001g0259 a0004c0009t0001g0074 a0004c0009t0001g0075 a0005c0006t0001g0022 a0005c0006t0001g0061 a0005c0006t0001g0062 a0005c0006t0001g0063 a0005c0006t0001g0065 a0006c0005t0001g0076 a0006c0005t0002g0018 a0006c0005t0002g0019 a0006c0005t0002g0042 a0007c0007t0001g0035 a0007c0007t0001g0141 a0007c0007t0001g0194 a0011c0012t0001g0071 a0011c0012t0001g0077 a0012c0014t0001g0072 a0012c0014t0001g0073 a0015c0017t0001g0140	180	364	0.4945	50	c.134 others(69): Show c.1344+2763_1344+2812dupCAGGGGCAGGTTCTCCAGTAAATCCC AGGTCTCACTGGCCTGTGTCTTTA	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112732368	A A	AGGGGCAG others(43): Show AGGGGCAGGTTCTCCAGTAAATCCCAGGTCTCACTGGCCTGTGTCTTTAC G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	364	0.0028	50	c.134 others(69): Show c.1344+2713_1344+2714insGGGGGCAGGTTCTCCAGTAAATCCCA GGTCTCACTGGCCTGTGTCTTTAC	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NTM_chr11_131365615_132341822	131681632	T T	TGTGGTGG others(43): Show TGTGGTGGGAGCATGTGTGCATCTGTGTCTGTGTGTTTGTGAGTGTGGTG G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp1 HG01074.hp1 others(45): Show HG00558.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0002c0003t0006 a0002c0003t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0047 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0051 a0001c0001t0003g0061 a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0072 a0001c0001t0005g0001 a0001c0001t0005g0082 a0001c0001t0006g0034 a0001c0001t0008g0045 a0001c0001t0009g0015 a0001c0001t0013g0048 a0001c0001t0014g0080 a0001c0002t0001g0010 a0001c0002t0001g0027 a0001c0002t0001g0046 a0001c0002t0001g0075 a0001c0002t0002g0065 a0001c0002t0003g0016 a0001c0002t0003g0073 a0001c0002t0005g0026 a0001c0002t0005g0039 a0002c0003t0006g0071 a0002c0003t0011g0052	48	86	0.5581	50	c.83- others(69): Show c.83-229931_83-229930insTGGTGGGAGCATGTGTGCATCTGTGT CTGTGTGTTTGTGAGTGTGGTGGG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUBPL_chr14_31556404_31866224	31760144	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	268	0.0037	50	c.514 others(69): Show c.514-27635_514-27634insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17288882	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	360	0.0028	50	c.-1+ others(65): Show c.-1+5959_-1+6008dupCACACACACACACACACACACACACACACA CACACACACACACACACACA	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTAT others(43): Show GTGTGTATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03927.hp1 HG02055.hp1 HG03927.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0008 a0004c0004t0001 a0002c0002t0008 a0004c0004t0001	a0002c0002t0008g0333 a0004c0004t0001g0062 a0002c0002t0008g0333 a0004c0004t0001g0062	2	360	0.0056	50	c.273 others(69): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATATATATATACACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDCD1_chr8_109235919_109339087	109311559	G G	GTGTGTGT others(43): Show GTGTGTGTATGTATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0216 a0003c0003t0004g0216	1	360	0.0028	50	c.273 others(69): Show c.273+10749_273+10750insTATATATATATATATATATATATATA TATATATATATATACATACACACA	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding	2/9			chr8	TogoVar
NUDT3_chr6_34274679_34397669	34397635	C C	CGCCCGGC others(43): Show CGCCCGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA20905.hp1 NA18957.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0267 a0001c0001t0017g0268 a0001c0001t0017g0267 a0001c0001t0017g0268	2	270	0.0074	50	c.-52 others(61): Show c.-5274_-5273insAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GCACGGCTGGCCGGGC	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding		4967		chr6	TogoVar
NUDT3_chr6_34274679_34397669	34397635	C C	CGCCTGGC others(43): Show CGCCTGGCCAGCCGTGCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0269 a0001c0001t0041g0269	1	270	0.0037	50	c.-52 others(61): Show c.-5274_-5273insAGGGGGCTGACCCCCCCCACCTCCCTCCCAGACG GCACGGCTGGCCAGGC	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding		4967		chr6	TogoVar
NUP133_chr1_229435259_229513341	229472707	C C	CATACATA others(43): Show CATACATACATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0121 a0003c0003t0004g0121	1	276	0.0036	50	c.185 others(69): Show c.1852-1904_1852-1903insATATATATATATATATATATATATAT ATATATATATATATATGTATGTAT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	14/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(43): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	338	0.0030	50	c.38 others(61): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTCT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding		2907		chr11	TogoVar
NUP93_chr16_56725129_56855286	56808137	T T	TTTATATA others(43): Show TTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATATA G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 NA18906.hp1 HG02818.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0015 a0001c0004t0015g0016 a0001c0004t0015g0017 a0001c0004t0015g0015 a0001c0004t0015g0016 a0001c0004t0015g0017	3	378	0.0079	50	c.489 others(67): Show c.489+2520_489+2521insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808155	A A	ATATATAG others(43): Show ATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATATT T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01071.hp1 others(14): Show HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01361.hp2 HG01978.hp1 HG02027.hp1 HG02148.hp2 HG02809.hp1 NA18942.hp1 NA18952.hp2 NA18969.hp2 NA18979.hp1 NA18999.hp1 NA19005.hp1 NA19064.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 others(14): Show a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0003g0359 a0001c0001t0003g0363 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0368 a0001c0001t0003g0369 a0001c0001t0003g0370 a0001c0001t0028g0360	17	378	0.0450	50	c.489 others(67): Show c.489+2570_489+2571insTTTTATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(43): Show ATAACTATATAAAATATATAGTTATGTAACTATATAAAATATATAGTTAT G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0019 a0001c0004t0019	a0001c0004t0019g0181 a0001c0004t0019g0181	1	378	0.0027	50	c.489 others(67): Show c.489+2794_489+2843dupTAAAATATATAGTTATGTAACTATATAA AATATATAGTTATGTAACTATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808192	A A	ATAACTAT others(43): Show ATAACTATATATTTTATATAGTTATATAACTATATAAAATATATAGTTAT G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0367 a0001c0001t0003g0367	1	378	0.0027	50	c.489 others(67): Show c.489+2570_489+2571insTTTTATATAGTTATATAACTATATAAAA TATATAGTTATGTAACTATATA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115403	A A	ATATATAT others(43): Show ATATATATACACATATGTATATATATATATATATGTATATATATATGTGT G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19060.hp1 HG00544.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0067 a0001c0001t0001g0068	2	448	0.0045	50	c.7- others(63): Show c.7-507_*7-506insCACACATATATATATACATATATATATATATA TACATATGTGTATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(43): Show TTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18522.hp2 NA18966.hp1 others(4): Show HG04199.hp2 NA18522.hp2 NA18966.hp1 NA18984.hp2 NA18997.hp1 NA19068.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0004g0065 a0001c0001t0001g0011 a0001c0001t0004g0065	7	448	0.0156	50	c.6+ others(63): Show c.6+389_*6+390insTATATATATATATATATATATATATATATATA TATATATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NYAP2_chr2_225394710_225708654	225589516	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0032 a0001c0001t0034g0032	1	192	0.0052	50	c.161 others(69): Show c.1618+6507_1618+6508insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
NYNRIN_chr14_24394003_24424283	24406201	A A	AAAAATAA others(43): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0131 a0002c0002t0020g0131	1	450	0.0022	50	c.199 others(67): Show c.199-1666_199-1617dupAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATA	NYNRIN	ENSG00000205978.6	transcript	ENST00000382554.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
OCA2_chr15_27749875_28104315	27824602	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0052 a0001c0006t0001g0052	1	110	0.0091	50	c.243 others(71): Show c.2432+20356_2432+20357insTATATATATATATATATATATATA GAGAGAGAGAGAGAGAGAGAGAGAGA	OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23			chr15	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 NA19030.hp2 HG02080.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	444	0.0045	50	c.-78 others(59): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA TATATATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	50	c.-78 others(59): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA TATATATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 NA19011.hp2 HG03209.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	2	444	0.0045	50	c.-78 others(59): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA TATATATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	50	c.-78 others(59): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TATATATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	50	c.-78 others(59): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTATATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 NA19072.hp2 NA19087.hp1 HG00738.hp2 NA19072.hp2 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	3	444	0.0068	50	c.-78 others(59): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTATATATA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
OCEL1_chr19_17221226_17234219	17225459	C C	CTCTCTCT others(43): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	444	0.0023	50	c.-78 others(59): Show c.-789_-788insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTA	OCEL1	ENSG00000099330.9	transcript	ENST00000215061.9	protein_coding		766		chr19	TogoVar
ODF2L_chr1_86341837_86401323	86366408	A A	ACACACAC others(43): Show ACACACACACACACACACACACACACATACACATACACATACACACACAT T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18966.hp2 NA19088.hp1 NA18944.hp2 NA18966.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	3	406	0.0074	50	c.105 others(69): Show c.1056+4560_1056+4609dupAATGTGTGTGTATGTGTATGTGTATG TGTGTGTGTGTGTGTGTGTGTGTG	ODF2L	ENSG00000122417.16	transcript	ENST00000460698.7	protein_coding	10/16			chr1	TogoVar
ODF3_chr11_191761_205258	196287	G G	GGGGACAT others(43): Show GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02004.hp2 homoSapiens_chm13v2.hp1 HG00280.hp1 HG02004.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	3	388	0.0077	50	c.-76 others(59): Show c.-768_-767insGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACCTGGTGA	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		473		chr11	TogoVar

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