Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
MTG2_chr20_62178028_62208568	62204361	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 NA18947.hp1 NA18962.hp2 others(1): Show HG01928.hp1 NA18947.hp1 NA18962.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0264 a0001c0002t0001g0016 a0001c0001t0001g0264 a0001c0002t0001g0016	4	293	0.0137	-42	c.32 others(53): Show c.3285_*3326delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGA GAGAGAGA	MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding		794		chr20	TogoVar
MTG2_chr20_62178028_62208568	62204363	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02735.hp2 HG02970.hp2 HG01934.hp1 HG02735.hp2 HG02970.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0012 a0001c0001 a0001c0002 a0010c0012	a0001c0001t0001 a0001c0002t0036 a0010c0012t0026 a0001c0001t0001 a0001c0002t0036 a0010c0012t0026	a0001c0001t0001g0152 a0001c0002t0036g0276 a0010c0012t0026g0074 a0001c0001t0001g0152 a0001c0002t0036g0276 a0010c0012t0026g0074	3	409	0.0073	-42	c.32 others(53): Show c.3287_*3328delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGA GAGAGAGA	MTG2	ENSG00000101181.18	transcript	ENST00000370823.8	protein_coding		796		chr20	TogoVar
MYD88_chr3_38133661_38148022	38144062	CAGCATAG others(35): Show CAGCATAGTTGAAATTCAAAACTACGATTCTGTGTGACGATGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	-42	c.27 others(53): Show c.2777_*2818delAGCATAGTTGAAATTCAAAACTACGATTCTGTGT GACGATGG	MYD88	ENSG00000172936.18	transcript	ENST00000650905.2	protein_coding		1041		chr3	TogoVar
MYLK4_chr6_2658637_2755922	2663243	GATGAGTG others(35): Show GATGAGTGAGTTCTCACGAGATCTGGTGGTTTCAAAGTGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02735.hp1 others(2): Show HG01070.hp2 HG01071.hp2 HG02735.hp1 HG03491.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0060 a0001c0001t0005 a0002c0002t0060	a0001c0001t0005g0137 a0001c0001t0005g0139 a0001c0001t0005g0199 others(2): Show a0001c0001t0005g0137 a0001c0001t0005g0139 a0001c0001t0005g0199 a0001c0001t0005g0200 a0002c0002t0060g0309	5	382	0.0131	-42	c.46 others(53): Show c.4640_*4681delGACACACTTTGAAACCACCAGATCTCGTGAGAAC TCACTCAT	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding		393		chr6	TogoVar
MYO16_chr13_108624611_109213005	108997326	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0033 a0001c0002t0004g0033	1	143	0.0070	-42	c.244 others(61): Show c.2442+4882_2442+4923delAAGAAAGAAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	MYO16	ENSG00000041515.16	transcript	ENST00000457511.7	protein_coding	21/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYO1C_chr17_1459186_1497686	1488427	AGACGCCG others(35): Show AGACGCCGCGGCTGAGGCTGCAGCGCCAGGCGCCTCCTGCGTT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0302 a0002c0002t0002g0302	1	428	0.0023	-42	c.75+ others(57): Show c.75+3944_75+3985delAACGCAGGAGGCGCCTGGCGCTGCAGCCTC AGCCGCGGCGTC	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	1/31			chr17	TogoVar
MYO1F_chr19_8515778_8582442	8543684	GTGGTGGT others(35): Show GTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0276 a0001c0002t0001g0276	1	312	0.0032	-42	c.152 others(59): Show c.1524+571_1524+612delGCACCACCACCACCACCAGCACCACCAC CACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8574553	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02280.hp1 HG02293.hp1 others(4): Show HG00673.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02976.hp2 HG03225.hp2 HG04184.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0008 a0001c0010 others(1): Show a0001c0001 a0001c0008 a0001c0010 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0008t0005 a0001c0010t0001 a0008c0017t0002	a0001c0001t0001g0334 a0001c0001t0002g0178 a0001c0001t0003g0282 others(4): Show a0001c0001t0001g0334 a0001c0001t0002g0178 a0001c0001t0003g0282 a0001c0001t0009g0006 a0001c0008t0005g0241 a0001c0010t0001g0212 a0008c0017t0002g0281	7	334	0.0210	-42	c.3+2 others(55): Show c.3+2712_3+2753delGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27			chr19	TogoVar
MYO3B_chr2_170173147_170660167	170648633	TATATATA others(35): Show TATATATATTATATTCTATATAATATATATTATATTCTATATA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp1 HG01261.hp1 others(18): Show HG00673.hp2 HG01192.hp1 HG01261.hp1 HG01515.hp2 HG01934.hp2 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp2 HG04228.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0016 a0021 a0022 a0024 a0025	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0001c0066 a0002c0018 a0003c0003 a0004c0013 a0005c0048 a0006c0058 a0009c0020 a0011c0055 a0016c0065 a0021c0074 a0022c0035 a0024c0072 a0025c0031	a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 others(18): Show a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0010 a0001c0004t0006 a0001c0014t0002 a0001c0014t0019 a0001c0066t0002 a0002c0018t0006 a0003c0003t0001 a0003c0003t0002 a0004c0013t0011 a0005c0048t0003 a0006c0058t0021 a0009c0020t0006 a0011c0055t0004 a0016c0065t0023 a0021c0074t0008 a0022c0035t0008 a0024c0072t0004 a0025c0031t0008	a0001c0001t0006g0134 a0001c0001t0011g0039 a0001c0002t0001g0069 others(18): Show a0001c0001t0006g0134 a0001c0001t0011g0039 a0001c0002t0001g0069 a0001c0002t0010g0138 a0001c0004t0006g0014 a0001c0014t0002g0013 a0001c0014t0019g0001 a0001c0066t0002g0130 a0002c0018t0006g0086 a0003c0003t0001g0044 a0003c0003t0002g0058 a0004c0013t0011g0163 a0005c0048t0003g0019 a0006c0058t0021g0131 a0009c0020t0006g0080 a0011c0055t0004g0128 a0016c0065t0023g0126 a0021c0074t0008g0113 a0022c0035t0008g0085 a0024c0072t0004g0114 a0025c0031t0008g0160	21	50	0.4200	-42	c.373 others(61): Show c.3734-2948_3734-2907delATATTATATTCTATATAATATATATT ATATTCTATATAATAT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO3B_chr2_170173147_170660167	170649241	ATTATATA others(35): Show ATTATATATAAAATAATATATAATATATTATATATAAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03130.hp2 HG01261.hp1 HG03130.hp2	a0001 a0001	a0001c0014 a0001c0066 a0001c0014 a0001c0066	a0001c0014t0002 a0001c0066t0002 a0001c0014t0002 a0001c0066t0002	a0001c0014t0002g0013 a0001c0066t0002g0130 a0001c0014t0002g0013 a0001c0066t0002g0130	2	172	0.0116	-42	c.373 others(61): Show c.3734-2386_3734-2345delTTATATATAAAATAATATATAATATA TTATATATAAAATAAT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34			chr2	TogoVar
MYO3B_chr2_170173147_170660167	170649257	TATATAAT others(35): Show TATATAATATATTATATATAAAATAATATATATTATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0149 a0001c0004t0002g0149	1	159	0.0063	-42	c.373 others(61): Show c.3734-2367_3734-2326delTAATATATTATATATAAAATAATATA TATTATATATAAAATA	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO7B_chr2_127530683_127642726	127572468	CTTTTCTC others(35): Show CTTTTCTCCTTCCTTCCTTTCTTTTTCTCCTTCCTTCCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp2 HG02280.hp2 others(3): Show HG01891.hp1 HG02109.hp2 HG02280.hp2 HG03195.hp1 HG03453.hp1 NA18906.hp2	a0001 a0008 a0015 others(1): Show a0001 a0008 a0015 a0016	a0001c0005 a0001c0010 a0008c0063 others(2): Show a0001c0005 a0001c0010 a0008c0063 a0015c0071 a0016c0027	a0001c0005t0002 a0001c0010t0001 a0008c0063t0001 others(2): Show a0001c0005t0002 a0001c0010t0001 a0008c0063t0001 a0015c0071t0001 a0016c0027t0001	a0001c0005t0002g0131 a0001c0010t0001g0139 a0001c0010t0001g0228 others(3): Show a0001c0005t0002g0131 a0001c0010t0001g0139 a0001c0010t0001g0228 a0008c0063t0001g0257 a0015c0071t0001g0123 a0016c0027t0001g0226	6	264	0.0227	-42	c.593 others(59): Show c.593-1356_593-1315delCTTCCTTTCTTTTTCTCCTTCCTTCCTT TCTTTTTCTCCTTC	MYO7B	ENSG00000169994.20	transcript	ENST00000409816.8	protein_coding	6/47		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO9A_chr15_71817291_72123150	71982058	CGCCCAGG others(35): Show CGCCCAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0023 a0023	a0023c0016 a0023c0016	a0023c0016t0015 a0023c0016t0015	a0023c0016t0015g0264 a0023c0016t0015g0264	1	306	0.0033	-42	c.172 others(61): Show c.1723-3808_1723-3767delTTGCAGTGAGCTGAGATTGGGCCACT GCACTCCAGCCTGGGC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	11/41			chr15	TogoVar
MYOF_chr10_93301429_93487334	93482845	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01928.hp2 HG02145.hp1 others(32): Show HG00639.hp2 HG01928.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp1 HG02735.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp2 HG03471.hp2 HG03540.hp2 HG03942.hp2 NA18612.hp1 NA18945.hp1 NA18950.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA19003.hp1 NA19010.hp1 NA19012.hp1 NA19066.hp1 NA19084.hp1 NA19085.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0024	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0013 a0003c0016 a0005c0014 a0008c0031 a0024c0044	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0002c0013t0001 a0003c0016t0006 a0005c0014t0001 a0008c0031t0001 a0024c0044t0001	a0001c0001t0001g0039 a0001c0001t0001g0110 a0001c0001t0001g0111 others(32): Show a0001c0001t0001g0039 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0005g0013 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0004t0001g0040 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0099 a0001c0005t0001g0100 a0002c0013t0001g0090 a0002c0013t0001g0102 a0002c0013t0001g0105 a0003c0016t0006g0036 a0005c0014t0001g0142 a0008c0031t0001g0033 a0024c0044t0001g0001	35	134	0.2612	-42	c.-69 others(51): Show c.-693_-652delTATATATATATATATATATATATATATATATATATA TATATA	MYOF	ENSG00000138119.17	transcript	ENST00000359263.9	protein_coding		512		chr10	TogoVar
MYRIP_chr3_39804609_40265321	40212163	TATATACA others(35): Show TATATACATATATATACGTGTATGTGTATATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18612.hp1 NA18946.hp1 others(4): Show HG01981.hp1 NA18612.hp1 NA18946.hp1 NA18979.hp1 NA19057.hp2 NA19065.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0002 a0001c0002t0016 a0003c0003t0002 a0001c0002t0002 a0001c0002t0016 a0003c0003t0002	a0001c0002t0002g0043 a0001c0002t0002g0055 a0001c0002t0002g0063 others(4): Show a0001c0002t0002g0043 a0001c0002t0002g0055 a0001c0002t0002g0063 a0001c0002t0016g0054 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0144	7	156	0.0449	-42	c.190 others(61): Show c.1905+2071_1905+2112delATATACATATATATACGTGTATGTGT ATATACATATATATAC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16			chr3	TogoVar
MYT1_chr20_64159452_64247253	64174929	TGCAGCAT others(35): Show TGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGG	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0141 a0001c0001t0008g0141	1	222	0.0045	-42	c.-99 others(61): Show c.-99+10191_-99+10232delGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYZAP_chr15_57586904_57690364	57688391	CATATAAT others(35): Show CATATAATATAAAATATATGTGTGTACAATATACACATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03209.hp1 HG02886.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0233 a0001c0001t0005g0121 a0001c0001t0004g0233 a0001c0001t0005g0121	2	319	0.0063	-42	c.38 others(53): Show c.3894_*3935delATATAATATAAAATATATGTGTGTACAATATACA CATATATA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3028		chr15	TogoVar
NAA15_chr4_139296505_139396384	139367981	TAGACTTC others(35): Show TAGACTTCTATGAATAGTCCAAGGCTCTTCAAACTTCCACTAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02109.hp1 HG03540.hp2 others(2): Show HG00438.hp2 HG02109.hp1 HG03540.hp2 NA18950.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0214 a0001c0001t0009g0212 a0001c0001t0009g0213 others(2): Show a0001c0001t0002g0214 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0215 a0001c0001t0009g0216	5	332	0.0151	-42	c.175 others(61): Show c.1754-2227_1754-2186delACTTCTATGAATAGTCCAAGGCTCTT CAAACTTCCACTAAAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAALAD2_chr11_90129663_90197894	90155364	TATGTAAT others(35): Show TATGTAATATTACATATTATACATGTAATATATAATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp1 HG01081.hp1 others(27): Show HG00438.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp2 HG01243.hp1 HG01346.hp2 HG01934.hp2 HG02027.hp2 HG02055.hp2 HG02083.hp2 HG02129.hp1 HG02258.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 NA18522.hp2 NA18957.hp2 NA18967.hp2 NA18973.hp2 NA18998.hp2 NA19062.hp2 NA20300.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0002 a0003c0004 a0005c0007 others(2): Show a0001c0002 a0003c0004 a0005c0007 a0005c0014 a0008c0010	a0001c0002t0001 a0001c0002t0004 a0003c0004t0001 others(8): Show a0001c0002t0001 a0001c0002t0004 a0003c0004t0001 a0003c0004t0004 a0003c0004t0005 a0003c0004t0018 a0005c0007t0001 a0005c0007t0005 a0005c0007t0007 a0005c0014t0001 a0008c0010t0004	a0001c0002t0001g0324 a0001c0002t0004g0255 a0001c0002t0004g0256 others(27): Show a0001c0002t0001g0324 a0001c0002t0004g0255 a0001c0002t0004g0256 a0001c0002t0004g0257 a0001c0002t0004g0258 a0001c0002t0004g0259 a0001c0002t0004g0260 a0003c0004t0001g0242 a0003c0004t0004g0243 a0003c0004t0005g0231 a0003c0004t0005g0235 a0003c0004t0005g0236 a0003c0004t0005g0237 a0003c0004t0005g0238 a0003c0004t0005g0239 a0003c0004t0005g0240 a0003c0004t0005g0241 a0003c0004t0005g0244 a0003c0004t0005g0245 a0003c0004t0005g0246 a0003c0004t0018g0234 a0005c0007t0001g0317 a0005c0007t0005g0310 a0005c0007t0005g0311 a0005c0007t0005g0313 a0005c0007t0005g0314 a0005c0007t0007g0312 a0005c0014t0001g0315 a0008c0010t0004g0316 a0008c0010t0004g0318	30	361	0.0831	-42	c.797 others(59): Show c.797-2740_797-2699delTAATGTAATATTACATATTATACATGTA ATATATAATATATA	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	175199838	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0003 a0007c0012t0003	a0007c0012t0003g0033 a0007c0012t0003g0033	1	61	0.0164	-42	c.546 others(61): Show c.546-34091_546-34050delATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175590211	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG03579.hp2 HG01074.hp1 HG02055.hp1 HG03579.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0008 a0011c0020 a0001c0001 a0004c0008 a0011c0020	a0001c0001t0002 a0004c0008t0024 a0011c0020t0025 a0001c0001t0002 a0004c0008t0024 a0011c0020t0025	a0001c0001t0002g0012 a0004c0008t0024g0051 a0011c0020t0025g0001 a0001c0001t0002g0012 a0004c0008t0024g0051 a0011c0020t0025g0001	3	55	0.0545	-42	c.180 others(63): Show c.1800+14040_1800+14081delTATATATATATATATATATATATA TATATATATATATATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NANOS2_chr19_45908214_45919778	45919307	GAGCCCAG others(35): Show GAGCCCAGATCGCACCACTGGACTCCAGCCTGGGTGACAGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	440	0.0023	-42	c.-46 others(53): Show c.-4656_-4615delGCTCTGTCACCCAGGCTGGAGTCCAGTGGTGCGA TCTGGGCT	NANOS2	ENSG00000188425.4	transcript	ENST00000341294.4	protein_coding		4530		chr19	TogoVar
NARS2_chr11_78430968_78579864	78571045	TGCTATTA others(35): Show TGCTATTAGGAAAGAGCAGAACAGCTTAAGGGAGCCGCAGGTA	T T	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0166 a0002c0002t0002g0166	1	292	0.0034	-42	c.251 others(57): Show c.251+248_251+289delTACCTGCGGCTCCCTTAAGCTGTTCTGCTC TTTCCTAATAGC	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	2/13			chr11	TogoVar
NAT8L_chr4_2054327_2074089	2055427	ACAATTGT others(35): Show ACAATTGTAGTTAATGCACTTTGGGAGACCAAGGCAGACAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	-42	c.-40 others(53): Show c.-4084_-4043delCAATTGTAGTTAATGCACTTTGGGAGACCAAGGC AGACAGAT	NAT8L	ENSG00000185818.8	transcript	ENST00000423729.3	protein_coding		3899		chr4	TogoVar
NAV2_chr11_19707837_20126601	19954930	TACATATA others(35): Show TACATATATATATACATATATACATATATATATACATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01515.hp2 HG02257.hp2 others(13): Show HG00673.hp1 HG01515.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02647.hp2 HG02922.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18979.hp1 NA19240.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0018 a0019	a0001c0008 a0001c0031 a0001c0058 others(13): Show a0001c0008 a0001c0031 a0001c0058 a0001c0070 a0001c0072 a0001c0076 a0001c0077 a0001c0081 a0002c0011 a0002c0020 a0002c0021 a0003c0017 a0004c0066 a0005c0083 a0018c0140 a0019c0057	a0001c0008t0016 a0001c0031t0001 a0001c0058t0009 others(13): Show a0001c0008t0016 a0001c0031t0001 a0001c0058t0009 a0001c0070t0022 a0001c0072t0001 a0001c0076t0015 a0001c0077t0009 a0001c0081t0012 a0002c0011t0010 a0002c0020t0001 a0002c0021t0015 a0003c0017t0006 a0004c0066t0009 a0005c0083t0002 a0018c0140t0005 a0019c0057t0008	a0001c0008t0016g0087 a0001c0031t0001g0082 a0001c0058t0009g0068 others(13): Show a0001c0008t0016g0087 a0001c0031t0001g0082 a0001c0058t0009g0068 a0001c0070t0022g0108 a0001c0072t0001g0079 a0001c0076t0015g0089 a0001c0077t0009g0155 a0001c0081t0012g0164 a0002c0011t0010g0146 a0002c0020t0001g0140 a0002c0021t0015g0139 a0003c0017t0006g0027 a0004c0066t0009g0154 a0005c0083t0002g0057 a0018c0140t0005g0165 a0019c0057t0008g0093	16	166	0.0964	-42	c.264 others(61): Show c.2645+5864_2645+5905delCATATATACATATATATATACATATA CACACATATATATATA	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	10/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	20106155	GTATATAT others(35): Show GTATATATATATATATATATATGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0022 a0001c0070t0022	a0001c0070t0022g0108 a0001c0070t0022g0108	1	129	0.0078	-42	c.684 others(59): Show c.6841+450_6841+491delGTGTGTGTATATATATATATATATATAT ATATATATATATAT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	35/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV3_chr12_77825894_78218010	78142693	ACATATGT others(35): Show ACATATGTATGTGTATATATATACATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG02040.hp2 others(4): Show HG01074.hp2 HG01109.hp2 HG02040.hp2 HG03490.hp2 NA18993.hp1 NA19057.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0001c0012 a0001c0021	a0001c0001t0003 a0001c0004t0004 a0001c0004t0006 others(3): Show a0001c0001t0003 a0001c0004t0004 a0001c0004t0006 a0001c0007t0033 a0001c0012t0002 a0001c0021t0002	a0001c0001t0003g0071 a0001c0001t0003g0087 a0001c0004t0004g0044 others(4): Show a0001c0001t0003g0071 a0001c0001t0003g0087 a0001c0004t0004g0044 a0001c0004t0006g0096 a0001c0007t0033g0095 a0001c0012t0002g0115 a0001c0021t0002g0144	7	171	0.0409	-42	c.468 others(61): Show c.4683+2360_4683+2401delCATATGTATGTGTATATATATACATA TATATGTGTGTGTGTG	NAV3	ENSG00000067798.16	transcript	ENST00000397909.7	protein_coding	20/39			chr12	TogoVar
NBPF4_chr1_108217464_108249076	108244911	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00597.hp1 others(18): Show HG00140.hp1 HG00558.hp1 HG00597.hp1 HG01070.hp1 HG01074.hp2 HG01243.hp2 HG02257.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 HG03704.hp2 NA18522.hp1 NA18974.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA19000.hp2 NA19009.hp1 NA19012.hp1 NA19086.hp2 NA19089.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0009 a0013	a0002c0003 a0002c0005 a0002c0006 others(6): Show a0002c0003 a0002c0005 a0002c0006 a0003c0002 a0004c0004 a0004c0019 a0005c0007 a0009c0010 a0013c0023	a0002c0003t0002 a0002c0005t0002 a0002c0006t0002 others(6): Show a0002c0003t0002 a0002c0005t0002 a0002c0006t0002 a0003c0002t0004 a0004c0004t0002 a0004c0019t0002 a0005c0007t0002 a0009c0010t0002 a0013c0023t0002	a0002c0003t0002g0007 a0002c0003t0002g0015 a0002c0005t0002g0046 others(11): Show a0002c0003t0002g0007 a0002c0003t0002g0015 a0002c0005t0002g0046 a0002c0006t0002g0033 a0003c0002t0004g0032 a0004c0004t0002g0005 a0004c0004t0002g0006 a0004c0004t0002g0039 a0004c0019t0002g0035 a0005c0007t0002g0017 a0005c0007t0002g0053 a0005c0007t0002g0054 a0009c0010t0002g0014 a0013c0023t0002g0037	21	132	0.1591	-42	c.-10 others(53): Show c.-1090_-1049delGTGTGTATATATATATATATATATATATATATAT ATATATAT	NBPF4	ENSG00000196427.14	transcript	ENST00000415641.8	protein_coding		836		chr1	TogoVar
NBPF4_chr1_108217464_108249076	108244913	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01074.hp1 HG01255.hp1 others(11): Show HG00438.hp2 HG01074.hp1 HG01255.hp1 HG01361.hp1 HG01978.hp1 HG01978.hp2 HG02109.hp1 HG02615.hp2 HG02965.hp2 HG03017.hp1 HG03579.hp2 NA18974.hp2 NA18983.hp2 NA20752.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0005 a0002c0006 others(3): Show a0002c0003 a0002c0005 a0002c0006 a0002c0012 a0002c0014 a0004c0004	a0002c0003t0002 a0002c0005t0002 a0002c0006t0002 others(3): Show a0002c0003t0002 a0002c0005t0002 a0002c0006t0002 a0002c0012t0002 a0002c0014t0002 a0004c0004t0002	a0002c0003t0002g0007 a0002c0003t0002g0038 a0002c0003t0002g0040 others(9): Show a0002c0003t0002g0007 a0002c0003t0002g0038 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0005t0002g0044 a0002c0005t0002g0045 a0002c0006t0002g0030 a0002c0006t0002g0034 a0002c0012t0002g0052 a0002c0014t0002g0016 a0004c0004t0002g0036	14	122	0.1148	-42	c.-10 others(53): Show c.-1092_-1051delGTGTGTGTATATATATATATATATATATATATAT ATATATAT	NBPF4	ENSG00000196427.14	transcript	ENST00000415641.8	protein_coding		838		chr1	TogoVar
NBPF4_chr1_108217464_108249076	108244919	TATATATA others(35): Show TATATATATATATATATATATATATATATACACACACATATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0051 a0002c0012t0002g0051	1	132	0.0076	-42	c.-10 others(53): Show c.-1098_-1057delCTATATGTGTGTGTATATATATATATATATATAT ATATATAT	NBPF4	ENSG00000196427.14	transcript	ENST00000415641.8	protein_coding		844		chr1	TogoVar
NBPF8_chr1_120410035_120474676	120431321	AATATATA others(35): Show AATATATATATATATATATTTATCATCTCCAAATAGGGAATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01192.hp1 others(4): Show HG00099.hp2 HG00323.hp2 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG02735.hp1 HG03579.hp1	a0002 a0006 a0002 a0006	a0002c0001 a0006c0007 a0002c0001 a0006c0007	a0002c0001t0002 a0006c0007t0007 a0002c0001t0002 a0006c0007t0007	a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0031 others(4): Show a0002c0001t0002g0029 a0002c0001t0002g0030 a0002c0001t0002g0031 a0002c0001t0002g0047 a0002c0001t0002g0048 a0002c0001t0002g0049 a0006c0007t0007g0085	7	239	0.0293	-42	c.-29 others(61): Show c.-292+3493_-292+3534delTTATCATCTCCAAATAGGGAATATAT ATATATATATATATAT	NBPF8	ENSG00000270231.5	transcript	ENST00000698216.1	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
NCAPD2_chr12_6489102_6536955	6504176	TATATACA others(35): Show TATATACATATATATATATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03139.hp2 NA19240.hp1 HG02886.hp2 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0228 a0001c0004t0009g0229 a0001c0004t0009g0230 a0001c0004t0009g0228 a0001c0004t0009g0229 a0001c0004t0009g0230	3	424	0.0071	-42	c.128 others(59): Show c.128-5535_128-5494delCATATATATATATATATATATATATATA TATATATAGATATA	NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
NCBP2L_chrX_107772733_107800829	107782182	AATATATA others(35): Show AATATATATATATAAATATATATATATAAATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02622.hp2 HG00621.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0159 a0001c0001t0001g0007 a0001c0001t0001g0159	2	280	0.0071	-42	c.-73 others(59): Show c.-73+4336_-73+4377delTAAATATATATATATAAATATATATATA AATATATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107782196	AATATATA others(35): Show AATATATATATATAAATATATATATAAATATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	247	0.0040	-42	c.-73 others(59): Show c.-73+4350_-73+4391delTAAATATATATATAAATATATATATATA AATATATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107782222	AATATATA others(35): Show AATATATATATATAAATATATATATATAAATATATATATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA21309.hp2 NA18972.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0134 a0001c0001t0001g0026 a0001c0001t0001g0134	2	283	0.0071	-42	c.-73 others(59): Show c.-73+4376_-73+4417delTAAATATATATATATAAATATATATATA AATATATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCOA6_chr20_34709774_34830651	34817170	AATGGGTA others(35): Show AATGGGTACTACGGAACTGATATTCAACAGATTCAATATCAGT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0096 a0003c0006t0001g0096	1	285	0.0035	-42	c.-16 others(61): Show c.-164+8260_-164+8301delACTGATATTGAATCTGTTGAATATCA GTTCCGTAGTACCCAT	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NCOR2_chr12_124319415_124572612	124468265	CCATCATC others(35): Show CCATCATCCTCATCACCCTCATCCTCATCACGCCCATCACCCT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0039 a0004c0008t0039	a0004c0008t0039g0201 a0004c0008t0039g0201	1	232	0.0043	-42	c.592 others(59): Show c.592-2021_592-1980delAGGGTGATGGGCGTGATGAGGATGAGGG TGATGAGGATGATG	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48			chr12	TogoVar
NEK11_chr3_131021877_131355465	131203761	GTGTGTGT others(35): Show GTGTGTGTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02155.hp1 NA18991.hp2 others(2): Show HG00609.hp2 HG02155.hp1 NA18991.hp2 NA19066.hp1 NA19074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0290 others(2): Show a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292	5	286	0.0175	-42	c.140 others(63): Show c.1400-24765_1400-24724delGTGTGTATATATATATATATATAT ATATATATATATATATAT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131203763	GTGTGTAT others(35): Show GTGTGTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0289 a0003c0004t0001g0289	1	276	0.0036	-42	c.140 others(63): Show c.1400-24763_1400-24722delGTGTATATATATATATATATATAT ATATATATATATATATAT	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK5_chr13_52028611_52134073	52084738	AGAGAGAG others(35): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02602.hp2 NA18944.hp1 others(8): Show HG00099.hp1 HG02602.hp2 NA18944.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18981.hp1 NA18993.hp2 NA18995.hp1 NA19007.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0021	a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0003g0008 others(6): Show a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0281 a0001c0001t0007g0242 a0001c0001t0021g0227	11	233	0.0472	-42	c.148 others(61): Show c.1480-1428_1480-1387delACACACACACACACACACTCTCTCTC TCTCTCTCTCTCTCTC	NEK5	ENSG00000197168.14	transcript	ENST00000684899.1	protein_coding	16/23			chr13	TogoVar
NEK5_chr13_52028611_52134073	52084740	AGAGAGAG others(35): Show AGAGAGAGAGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02129.hp1 HG02135.hp2 others(1): Show HG01934.hp1 HG02129.hp1 HG02135.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0225 a0001c0001t0002g0268 a0001c0001t0002g0274 others(1): Show a0001c0001t0002g0225 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0015g0230	4	326	0.0123	-42	c.148 others(61): Show c.1480-1430_1480-1389delACACACACACACACACACACTCTCTC TCTCTCTCTCTCTCTC	NEK5	ENSG00000197168.14	transcript	ENST00000684899.1	protein_coding	16/23			chr13	TogoVar
NEU4_chr2_241804193_241822413	241807484	GCCACCTT others(35): Show GCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	318	0.0031	-42	c.-17 others(53): Show c.-1793_-1752delCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1708		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807487	ACCTTCCC others(35): Show ACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0015 a0001c0004t0001g0015	1	312	0.0032	-42	c.-17 others(53): Show c.-1790_-1749delCCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1705		chr2	TogoVar
NEU4_chr2_241804193_241822413	241812621	TCTCTGTG others(35): Show TCTCTGTGGAACCCAGGGCCTGGCCACATGGAGGACACGGAGG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(48): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00642.hp2 HG01192.hp2 HG01934.hp1 HG01952.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02165.hp2 HG02258.hp1 HG02300.hp2 HG02717.hp1 HG02896.hp1 HG02970.hp2 HG03130.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18952.hp2 NA18959.hp2 NA18966.hp2 NA18971.hp2 NA18983.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0016 a0002c0003 a0004c0018 a0005c0009	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0016t0001 a0002c0003t0002 a0004c0018t0001 a0005c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0030 others(26): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0151 a0001c0001t0001g0167 a0001c0002t0001g0066 a0001c0004t0001g0006 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0049 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0059 a0001c0004t0001g0060 a0001c0004t0001g0062 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0093 a0001c0004t0001g0158 a0001c0005t0001g0024 a0001c0005t0001g0061 a0001c0016t0001g0070 a0002c0003t0002g0056 a0004c0018t0001g0022 a0005c0009t0001g0003 a0005c0009t0001g0162	51	310	0.1645	-42	c.-3- others(57): Show c.-3-1836_-3-1795delACATGGAGGACACGGAGGCTCTGTGGAACC CAGGGCCTGGCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEXMIF_chrX_74727856_74930452	74786823	ACACACAC others(35): Show ACACACACACACACACGTGAGCACATGTGCATGTGCGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp1 HG02074.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0034 a0001c0001t0019g0017 a0001c0001t0001g0034 a0001c0001t0019g0017	2	222	0.0090	-42	c.-47 others(61): Show c.-47-41168_-47-41127delCACACACGCACATGCACATGTGCTCA CGTGTGTGTGTGTGTG	NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3			chrX	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(35): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG03486.hp2 HG02280.hp1 HG02922.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0007g0207 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0007g0207	3	178	0.0169	-42	c.-89 others(51): Show c.-899_-858delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NEXN_chr1_77883624_77948895	77887969	CTTCTTCT others(35): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	266	0.0038	-42	c.-84 others(51): Show c.-842_-801delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTT	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		654		chr1	TogoVar
NFAM1_chr22_42375407_42437403	42376057	TCTGGAAC others(35): Show TCTGGAACTGGTCACTTGGCTGTGGGTCCTACCCTTATCCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0159 a0001c0002t0004g0159	1	382	0.0026	-42	c.90 others(53): Show c.9062_*9103delCAGGGATAAGGGTAGGACCCACAGCCAAGTGACC AGTTCCAG	NFAM1	ENSG00000235568.7	transcript	ENST00000329021.10	protein_coding		4349		chr22	TogoVar
NFAM1_chr22_42375407_42437403	42406115	TTCCAGTC others(35): Show TTCCAGTCCACAGCTCACCTGACACCTGCGGGGCAGGCGCAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(217): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0012 a0001c0015 a0001c0016 a0003c0006 a0006c0010 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0043 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0059 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0002t0004 a0001c0003t0007 a0001c0003t0008 a0001c0005t0013 a0001c0005t0021 a0001c0012t0001 a0001c0015t0003 a0001c0016t0002 a0003c0006t0016 a0006c0010t0006 a0007c0011t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 others(206): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0185 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0295 a0001c0001t0001g0334 a0001c0001t0002g0003 a0001c0001t0002g0035 a0001c0001t0002g0122 a0001c0001t0002g0149 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0080 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0125 a0001c0001t0003g0142 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0196 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0249 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0277 a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0005g0059 a0001c0001t0005g0060 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0051 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0006g0144 a0001c0001t0009g0034 a0001c0001t0009g0063 a0001c0001t0009g0065 a0001c0001t0009g0074 a0001c0001t0009g0075 a0001c0001t0009g0102 a0001c0001t0009g0103 a0001c0001t0009g0104 a0001c0001t0009g0140 a0001c0001t0009g0146 a0001c0001t0010g0176 a0001c0001t0010g0189 a0001c0001t0010g0190 a0001c0001t0010g0207 a0001c0001t0010g0208 a0001c0001t0010g0209 a0001c0001t0010g0210 a0001c0001t0010g0211 a0001c0001t0010g0232 a0001c0001t0010g0275 a0001c0001t0011g0073 a0001c0001t0011g0109 a0001c0001t0014g0092 a0001c0001t0014g0111 a0001c0001t0014g0128 a0001c0001t0014g0129 a0001c0001t0014g0228 a0001c0001t0015g0055 a0001c0001t0015g0078 a0001c0001t0015g0084 a0001c0001t0015g0124 a0001c0001t0015g0247 a0001c0001t0019g0081 a0001c0001t0019g0082 a0001c0001t0019g0083 a0001c0001t0021g0089 a0001c0001t0024g0090 a0001c0001t0024g0095 a0001c0001t0025g0036 a0001c0001t0025g0037 a0001c0001t0026g0033 a0001c0001t0026g0264 a0001c0001t0027g0006 a0001c0001t0028g0344 a0001c0001t0028g0345 a0001c0001t0029g0206 a0001c0001t0029g0212 a0001c0001t0030g0203 a0001c0001t0030g0204 a0001c0001t0033g0251 a0001c0001t0034g0106 a0001c0001t0035g0135 a0001c0001t0036g0287 a0001c0001t0037g0123 a0001c0001t0039g0105 a0001c0001t0043g0062 a0001c0001t0050g0156 a0001c0001t0051g0181 a0001c0001t0054g0298 a0001c0001t0059g0117 a0001c0001t0063g0199 a0001c0001t0064g0262 a0001c0001t0065g0213 a0001c0002t0004g0001 a0001c0002t0004g0008 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0252 a0001c0002t0004g0269 a0001c0003t0007g0255 a0001c0003t0008g0256 a0001c0005t0013g0265 a0001c0005t0021g0239 a0001c0012t0001g0153 a0001c0015t0003g0261 a0001c0016t0002g0148 a0003c0006t0016g0257 a0006c0010t0006g0057 a0007c0011t0003g0200	220	382	0.5759	-42	c.564 others(59): Show c.564+3278_564+3319delTCTGCGCCTGCCCCGCAGGTGTCAGGTG AGCTGTGGACTGGA	NFAM1	ENSG00000235568.7	transcript	ENST00000329021.10	protein_coding	3/5			chr22	TogoVar
NFASC_chr1_204823652_205027822	204877026	ATAATATA others(35): Show ATAATATATATTTATATATATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01358.hp1 HG01952.hp1 others(3): Show HG01192.hp2 HG01358.hp1 HG01952.hp1 HG02129.hp1 HG02135.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0030 others(2): Show a0001c0001 a0001c0002 a0001c0030 a0001c0042 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0001 a0001c0030t0001 a0001c0042t0001 a0002c0003t0002	a0001c0001t0001g0103 a0001c0001t0010g0029 a0001c0002t0001g0101 others(3): Show a0001c0001t0001g0103 a0001c0001t0010g0029 a0001c0002t0001g0101 a0001c0030t0001g0030 a0001c0042t0001g0093 a0002c0003t0002g0083	6	216	0.0278	-42	c.-19 others(63): Show c.-199-43603_-199-43562delATATATATTTATATATATATAATA TATTTATTTATATATTTA	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results