Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NFE2L3_chr7_26147198_26192137	26176817	A A	AGGCAGAG others(32): Show AGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCAGCCG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18962.hp2 NA18967.hp2 others(1): Show NA18941.hp1 NA18962.hp2 NA18967.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0125 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0086 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0136	4	400	0.0100	39	c.571 others(56): Show c.571-1108_571-1107insATCCCAGACGATGGGCAGCCGGGCAGAG GCGCTCCTCAC		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
NGEF_chr2_232873701_233018256	232890030	A A	AGAGGGGG others(32): Show AGAGGGGGTCTCTGTCCTGCCTCACTGGGCCTGTCAGGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02922.hp2 others(6): Show HG02109.hp2 HG02809.hp2 HG02922.hp2 HG03195.hp1 HG06807.hp1 NA18981.hp1 NA18992.hp1 NA19004.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0009 a0001c0002t0016 others(4): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0016 a0001c0002t0021 a0001c0002t0034 a0001c0004t0003 a0001c0004t0024	a0001c0002t0003g0290 a0001c0002t0009g0116 a0001c0002t0016g0023 others(6): Show a0001c0002t0003g0290 a0001c0002t0009g0116 a0001c0002t0016g0023 a0001c0002t0021g0009 a0001c0002t0034g0360 a0001c0004t0003g0168 a0001c0004t0003g0205 a0001c0004t0003g0206 a0001c0004t0024g0010	9	362	0.0249	39	c.127 others(58): Show c.1272+1289_1272+1327dupCACCTGACAGGCCCAGTGAGGCAGGA CAGAGACCCCCTC		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	8/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232890173	T T	TCTGTCAG others(32): Show TCTGTCAGGTGGAGGGGGTCTCTGTCCTGCCTCACTGGGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp1 others(46): Show HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01358.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02451.hp2 HG02647.hp2 HG02735.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03579.hp2 HG03688.hp2 HG04228.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18955.hp2 NA18970.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18995.hp2 NA19000.hp1 NA19010.hp1 NA19030.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19089.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0006 others(1): Show a0001c0001 a0001c0005 a0002c0006 a0002c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0029 a0001c0005t0002 a0002c0006t0002 a0002c0014t0002	a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0028 others(45): Show a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0123 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0198 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0241 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0356 a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0009g0040 a0001c0001t0009g0233 a0001c0001t0009g0245 a0001c0001t0009g0270 a0001c0001t0009g0333 a0001c0001t0029g0128 a0001c0005t0002g0015 a0002c0006t0002g0354 a0002c0014t0002g0071 a0002c0014t0002g0355	49	362	0.1354	39	c.127 others(58): Show c.1272+1146_1272+1184dupGCCCAGTGAGGCAGGACAGAGACCCC CTCCACCTGACAG		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	8/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995495	T T	TATATACA others(32): Show TATATACAGTATGTATACTATATACAGTATGTATACTATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG02145.hp2 others(28): Show HG00738.hp1 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0012 a0001c0013 a0002c0006 a0002c0009 a0002c0010 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0002t0003 a0001c0002t0011 a0001c0002t0028 a0001c0005t0001 a0001c0005t0005 a0001c0005t0007 a0001c0005t0016 a0001c0012t0010 a0001c0013t0001 a0002c0006t0008 a0002c0006t0030 a0002c0009t0002 a0002c0010t0003 a0004c0016t0022	a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0337 others(28): Show a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0002g0024 a0001c0001t0002g0123 a0001c0001t0002g0283 a0001c0001t0005g0160 a0001c0001t0007g0247 a0001c0001t0008g0120 a0001c0002t0003g0290 a0001c0002t0011g0019 a0001c0002t0011g0122 a0001c0002t0011g0140 a0001c0002t0011g0289 a0001c0002t0011g0291 a0001c0002t0028g0020 a0001c0005t0001g0117 a0001c0005t0005g0287 a0001c0005t0007g0338 a0001c0005t0016g0248 a0001c0012t0010g0340 a0001c0013t0001g0027 a0001c0013t0001g0256 a0002c0006t0008g0342 a0002c0006t0030g0341 a0002c0009t0002g0253 a0002c0009t0002g0254 a0002c0009t0002g0255 a0002c0010t0003g0292 a0004c0016t0022g0006	31	362	0.0856	39	c.-75 others(58): Show c.-75+17572_-75+17573insTATAGTATACATACTGTATATAGTAT ACATACTGTATAT		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NHSL2_chrX_71905845_72158286	72048987	G G	GAGAAGAA others(32): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03098.hp1 HG00738.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0078 a0002c0002t0002 a0002c0002t0078	a0002c0002t0002g0141 a0002c0002t0078g0069 a0002c0002t0002g0141 a0002c0002t0078g0069	2	187	0.0107	39	c.281 others(58): Show c.281-83065_281-83064insAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGA		NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17521366	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0114 a0006c0008t0001g0114	1	164	0.0061	39	c.565 others(60): Show c.565+145057_565+145058insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
NID2_chr14_51999809_52074059	52030481	A A	AAAAGAAA others(32): Show AAAAGAAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp1 HG03654.hp2 HG00639.hp1 HG01978.hp1 HG03654.hp2	a0004 a0027 a0004 a0027	a0004c0012 a0027c0067 a0004c0012 a0027c0067	a0004c0012t0002 a0027c0067t0002 a0004c0012t0002 a0027c0067t0002	a0004c0012t0002g0305 a0004c0012t0002g0307 a0027c0067t0002g0308 a0004c0012t0002g0305 a0004c0012t0002g0307 a0027c0067t0002g0308	3	372	0.0081	39	c.225 others(56): Show c.2258-792_2258-791insCTTTCTTTCTTTCTTTCTTTCTTTTCTT TTCTTTTCTTT		NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21						chr14	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	404	0.0025	39	c.33+ others(56): Show c.33+33431_33+33432insATATATATATATATATATATATTTTTTT TTTTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	404	0.0025	39	c.33+ others(56): Show c.33+33431_33+33432insATATATATATATATATATATATATATTT TTTTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINL_chr20_25447697_25590531	25469328	A A	ACCCCCCT others(32): Show ACCCCCCTTGCCCTGTCCCCCGACTCTCACTGGTGAGTAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0235 a0002c0011t0002g0235	1	310	0.0032	39	c.335 others(56): Show c.3353+662_3353+663insGTACTCACCAGTGAGAGTCGGGGGACAG GGCAAGGGGGG		NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23						chr20	TogoVar
NKAIN3_chr8_62243854_62989904	62832566	T T	TATAATGA others(32): Show TATAATGATATTTTATCATTATGTAATAAAACATTATTAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG03516.hp1 others(1): Show HG01109.hp1 HG02145.hp2 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0020 a0001c0001t0069 others(1): Show a0001c0001t0014 a0001c0001t0020 a0001c0001t0069 a0001c0001t0070	a0001c0001t0014g0013 a0001c0001t0020g0142 a0001c0001t0069g0075 others(1): Show a0001c0001t0014g0013 a0001c0001t0020g0142 a0001c0001t0069g0075 a0001c0001t0070g0143	4	144	0.0278	39	c.471 others(58): Show c.471+85447_471+85485dupTTTTATCATTATGTAATAAAACATTA TTACATAATGATA		NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
NKD2_chr5_1003802_1043943	1039005	T T	TGAGGAGG others(32): Show TGAGGAGGGGCCACAGGGTACAGGGGGAGCCCACACCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01099.hp1 others(49): Show HG00639.hp1 HG00741.hp1 HG01099.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01496.hp2 HG01891.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG04115.hp1 NA18522.hp1 NA18962.hp1 NA19043.hp1 NA19064.hp2 NA19074.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0008 a0009	a0001c0001 a0001c0002 a0003c0004 others(4): Show a0001c0001 a0001c0002 a0003c0004 a0004c0007 a0005c0009 a0008c0011 a0009c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0003c0004t0001 a0003c0004t0025 a0004c0007t0006 a0005c0009t0010 a0008c0011t0016 a0009c0013t0017	a0001c0001t0001g0196 a0001c0001t0003g0002 a0001c0001t0003g0004 others(42): Show a0001c0001t0001g0196 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0006g0076 a0001c0001t0007g0027 a0001c0001t0007g0077 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0258 a0001c0001t0007g0259 a0001c0001t0007g0260 a0001c0001t0008g0082 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0010g0004 a0001c0001t0012g0119 a0001c0001t0012g0120 a0001c0001t0012g0123 a0001c0001t0015g0117 a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0110 a0001c0002t0003g0262 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0025g0102 a0004c0007t0006g0078 a0004c0007t0006g0079 a0005c0009t0010g0111 a0008c0011t0016g0263 a0009c0013t0017g0098	52	319	0.1630	39	c.63 others(48): Show c.632_*633insGAGGAGGGGCCACAGGGTACAGGGGGAGCCCACACC AGC		NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding					63		chr5	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	C C	CCTTCTTC others(32): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18981.hp1 NA18972.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0004	2	434	0.0046	39	c.-18 others(50): Show c.-1884_-1883insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1726		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708574	T T	TCTTCTTC others(32): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01884.hp1 HG03704.hp2 others(9): Show HG01071.hp2 HG01884.hp1 HG03704.hp2 NA18943.hp2 NA18947.hp2 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18979.hp1 NA19002.hp1 NA19007.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0009 a0001c0002t0004 a0001c0002t0009	a0001c0002t0004g0004 a0001c0002t0009g0019 a0001c0002t0004g0004 a0001c0002t0009g0019	12	434	0.0277	39	c.-19 others(50): Show c.-1977_-1976insGAGGAGGAGGAGGAGAAGAAGAAGAAGAAGAAGA AGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1819		chr8	TogoVar
NLRC3_chr16_3534033_3582403	3569394	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0026 a0009c0021t0026	a0009c0021t0026g0342 a0009c0021t0026g0342	1	396	0.0025	39	c.-16 others(58): Show c.-168-2071_-168-2070insAAAAAAAAATATATATATATATATAT ATATATATATATA		NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	1/19						chr16	TogoVar
NLRC4_chr2_32219453_32269886	32261316	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	394	0.0025	39	c.-11 others(58): Show c.-119+3421_-119+3422insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA		NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	1/8						chr2	TogoVar
NLRP2_chr19_54961374_55006138	54976812	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0248 a0002c0003t0003g0248	1	429	0.0023	39	c.326 others(54): Show c.326-923_326-922insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851526	T T	TGTCCGTG others(32): Show TGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03209.hp1 HG04204.hp1 others(1): Show HG02615.hp1 HG03209.hp1 HG04204.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 others(1): Show a0002c0002t0007 a0002c0002t0008 a0002c0002t0012 a0002c0003t0004	a0002c0002t0007g0400 a0002c0002t0008g0223 a0002c0002t0012g0222 others(1): Show a0002c0002t0007g0400 a0002c0002t0008g0223 a0002c0002t0012g0222 a0002c0003t0004g0168	4	424	0.0094	39	c.-65 others(54): Show c.-65-490_-65-489insGTCCGTGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAA		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9						chr19	TogoVar
NLRP6_chr11_273407_290388	285027	A A	AGTCACTG others(32): Show AGTCACTGCCCGCAGCCCGGCCGCCCCCACGGCACTGCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0081 a0003c0007t0001g0081	1	446	0.0022	39	c.253 others(56): Show c.2538-118_2538-117insGCCCCCACGGCACTGCCCGTCACTGCCC GCAGCCCGGCC		NLRP6	ENSG00000174885.13	transcript	ENST00000534750.6	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
NLRP8_chr19_55942832_55993629	55993563	C C	CCCCTCCC others(32): Show CCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0026 a0008c0026	a0008c0026t0023 a0008c0026t0023	a0008c0026t0023g0255 a0008c0026t0023g0255	1	350	0.0029	39	c.56 others(50): Show c.5650_*5651insCCCTCCCCCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4935		chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 NA19076.hp1 HG01934.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0001 a0001c0001t0001g0026	2	413	0.0048	39	c.48 others(50): Show c.4818_*4819insAAAAAAAATATATATATATATATATATATATATA TATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAAG others(32): Show GGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0279 a0005c0006t0002g0279	1	388	0.0026	39	c.-17 others(50): Show c.-1796_-1795insGAAGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAG AAGAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37848282	G G	GAGGAAGA others(32): Show GAGGAAGAGGAAGAGAGAAGAAAGAAGAAGAAAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18986.hp1 NA18995.hp1 others(1): Show NA18949.hp1 NA18986.hp1 NA18995.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0242 a0001c0001t0004g0258 others(1): Show a0001c0001t0004g0003 a0001c0001t0004g0242 a0001c0001t0004g0258 a0001c0001t0004g0262	4	388	0.0103	39	c.-68 others(48): Show c.-687_-686insAGGAAGAGGAAGAGAGAAGAAAGAAGAAGAAAAGAA GAA		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					314		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAAGAAGA others(32): Show GAAGAAGAAGAAGAACAAGAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	388	0.0026	39	c.-62 others(48): Show c.-624_-623insAAGAAGAAGAAGAACAAGAACAAGAAGAACAAGAAG AAC		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					251		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183252249	G G	GGGGCACC others(32): Show GGGGCACCAGAGCCGCCTCCCCAGAGCGTGCTGGGAGGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0188 a0001c0001t0055g0188	1	258	0.0039	39	c.39 others(48): Show c.391_*392insATCCTCCCAGCACGCTCTGGGGAGGCGGCTCTGGTG CCC		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	11/11				391		chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183364684	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	258	0.0039	39	c.85+ others(56): Show c.85+53498_85+53499insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAA		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMT2_chr10_15100770_15173693	15168747	T T	TCCCGCCC others(32): Show TCCCGCCCGCGCCCCGTCCCGCCCTCCGTCCCGCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0128 a0001c0005t0009g0128	1	276	0.0036	39	c.-13 others(48): Show c.-136_-135insGAGGGGGCGGGACGGAGGGCGGGACGGGGCGCGGGC GGG		NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding					55		chr10	TogoVar
NOC4L_chr12_132139457_132157468	132149712	C C	CCACACCC others(32): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	294	0.0034	39	c.901 others(54): Show c.901+844_901+845insCGCCGCCTCGCTCACACCCCTAATCCCCTC GGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149888	C C	CCACACCC others(32): Show CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	294	0.0034	39	c.901 others(56): Show c.901+1020_901+1021insGGCCGCCTCGCTCACACCCCTAATCCCC TCGGTGAGTGC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149925	G G	GCTCACAC others(32): Show GCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	294	0.0034	39	c.901 others(56): Show c.901+1034_901+1035insCACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCA		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150543	C C	CCACACCC others(32): Show CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	294	0.0034	39	c.902 others(54): Show c.902-402_902-401insACTCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	168	0.0060	39	c.773 others(56): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATTTTTT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	337	0.0030	39	c.180 others(56): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATATTTTTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOMO1_chr16_14828721_14901157	14867176	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	337	0.0030	39	c.180 others(56): Show c.1806+486_1806+487insATATATATATATATATATATATATATAT ATTTTTTTTTT		NOMO1	ENSG00000103512.16	transcript	ENST00000287667.12	protein_coding	15/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(32): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	422	0.0024	39	c.195 others(56): Show c.195+1860_195+1898dupTATATTATTAATATAGTTACTATATATT AATATACTAAC		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01934.hp2 HG02132.hp1 others(1): Show HG00558.hp2 HG01934.hp2 HG02132.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0003	a0001c0001t0001g0048 a0001c0001t0002g0027 a0001c0002t0001g0031 others(1): Show a0001c0001t0001g0048 a0001c0001t0002g0027 a0001c0002t0001g0031 a0001c0004t0003g0130	4	182	0.0220	39	c.177 others(58): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAA others(32): Show AGAGAGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02896.hp2 HG02293.hp1 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0010 a0001c0002t0004 a0001c0003t0010	a0001c0002t0004g0119 a0001c0003t0010g0078 a0001c0002t0004g0119 a0001c0003t0010g0078	2	182	0.0110	39	c.178 others(58): Show c.178-25799_178-25798insAGAGAGGAGAGAGAGAGAGAAGAGAG AAGAGAGGAGAGA		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(32): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG01074.hp1 HG01433.hp2 others(3): Show HG00408.hp1 HG01074.hp1 HG01433.hp2 HG02809.hp2 NA18964.hp2 NA19058.hp2	a0009 a0009	a0009c0013 a0009c0049 a0009c0013 a0009c0049	a0009c0013t0001 a0009c0013t0003 a0009c0013t0008 others(1): Show a0009c0013t0001 a0009c0013t0003 a0009c0013t0008 a0009c0049t0001	a0009c0013t0001g0198 a0009c0013t0001g0230 a0009c0013t0003g0085 others(3): Show a0009c0013t0001g0198 a0009c0013t0001g0230 a0009c0013t0003g0085 a0009c0013t0003g0226 a0009c0013t0008g0146 a0009c0049t0001g0188	6	260	0.0231	39	c.44_ others(44): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(50): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390817	C C	CGGCGGCG others(32): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp1	a0009 a0009	a0009c0040 a0009c0040	a0009c0040t0001 a0009c0040t0001	a0009c0040t0001g0127 a0009c0040t0001g0127	1	260	0.0039	39	c.44_ others(44): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGAGGCGGCGGCGGCGG	p.Gly others(50): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390820	C C	CGGCGGCG others(32): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18747.hp1 NA18906.hp1 NA18747.hp1 NA18906.hp1	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0001 a0009c0023t0018 a0009c0023t0001 a0009c0023t0018	a0009c0023t0001g0075 a0009c0023t0018g0163 a0009c0023t0001g0075 a0009c0023t0018g0163	2	260	0.0077	39	c.44_ others(44): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGCGGCGGCGG	p.Gly others(50): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(32): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19091.hp2 NA19091.hp2	a0009 a0009	a0009c0046 a0009c0046	a0009c0046t0003 a0009c0046t0003	a0009c0046t0003g0232 a0009c0046t0003g0232	1	260	0.0039	39	c.44_ others(44): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGG	p.Gly others(50): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419855	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0015 a0016c0015t0015	a0016c0015t0015g0238 a0016c0015t0015g0238	1	260	0.0039	39	c.136 others(58): Show c.136-11086_136-11085insATATATATATATATATATATATATAT ATATATTTTTTTT		NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	164	0.0061	39	c.74- others(56): Show c.74-11073_74-11072insATATATATATATATATATATATATATAT ATTTTTTTTTT		NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAATATAT others(32): Show AAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	168	0.0060	39	c.74- others(56): Show c.74-11085_74-11084insATATATATATATATATATATATATATAT ATATATATATT		NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33						chr1	TogoVar
NOX5_chr15_69009695_69067762	69045565	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0119 a0003c0004t0003g0119	1	396	0.0025	39	c.164 others(58): Show c.1648-1252_1648-1251insTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTT		NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr15	TogoVar
NOXA1_chr9_137418393_137439406	137438449	C C	CCTCCCGT others(32): Show CCTCCCGTGGCCATAGAGGCATCCCCGGGGCTCAGACGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	404	0.0025	39	c.40 others(50): Show c.4089_*4090insCTCCCGTGGCCATAGAGGCATCCCCGGGGCTCAG ACGGT		NOXA1	ENSG00000188747.9	transcript	ENST00000683555.1	protein_coding					4044		chr9	TogoVar
NPAS3_chr14_32933879_33809173	33802228	A A	AGATAAAA others(32): Show AGATAAAAAAAAAAAATAAAACCAGAGCATATACAGACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0043 a0001c0003t0043	a0001c0003t0043g0091 a0001c0003t0043g0091	1	92	0.0109	39	c.11 others(50): Show c.1119_*1120insGATAAAAAAAAAAAATAAAACCAGAGCATATACA GACAC		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	12/12				1120		chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64104679	A A	ACAGGGGA others(32): Show ACAGGGGAGCACAGGCCATGGTGAGGACCGTCGGCCACAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG03688.hp1 NA20905.hp2 HG02735.hp1 HG03688.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0077 a0001c0002t0015 a0001c0002t0052 a0001c0001t0077 a0001c0002t0015 a0001c0002t0052	a0001c0001t0077g0110 a0001c0002t0015g0014 a0001c0002t0052g0056 a0001c0001t0077g0110 a0001c0002t0015g0014 a0001c0002t0052g0056	3	355	0.0085	39	c.11 others(50): Show c.1150_*1151insCTGTGGCCGACGGTCCTCACCATGGCCTGTGCTC CCCTG		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				1150		chr20	TogoVar
NPC1_chr18_23526442_23591506	23577367	T T	TGATTGGT others(32): Show TGATTGGTGTGTTTACAAACCTTGAGCTAGATAGACTGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp2 HG02976.hp1 others(2): Show HG01884.hp2 HG02886.hp2 HG02976.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(2): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117	5	378	0.0132	39	c.58- others(54): Show c.58-3794_58-3793insGGCAGTCTATCTAGCTCAAGGTTTGTAAAC ACACCAATC		NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	1/24						chr18	TogoVar
NPEPL1_chr20_58687800_58720844	58711110	C C	CCTCCTCC others(32): Show CCTCCTCCTCCCCCCCTCCTCCCCCTCCTCCCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0096 a0001c0003t0003g0096	1	398	0.0025	39	c.901 others(56): Show c.901-1368_901-1367insTCCTCCTCCCCCCCTCCTCCCCCTCCTC CCCCTCTCCTC		NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr20	TogoVar

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Search Results (Total: 3425 hits)