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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
NFILZ_chr19_8625633_8686151	8678147	G G	GTCCATCC others(25): Show GTCCATCCATCCATCCATCCATCCACCTATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG01069.hp1 others(34): Show HG00140.hp2 HG00323.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp1 HG02040.hp2 HG02145.hp2 HG02300.hp2 HG02572.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 NA18612.hp2 NA18950.hp1 NA18975.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19010.hp2 NA19074.hp2 NA19090.hp1	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0006 a0013	a0003c0003 a0004c0004 a0005c0005 others(2): Show a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0013c0011	a0003c0003t0006 a0003c0003t0010 a0003c0003t0011 others(14): Show a0003c0003t0006 a0003c0003t0010 a0003c0003t0011 a0003c0003t0033 a0003c0003t0034 a0003c0003t0071 a0003c0003t0073 a0003c0003t0074 a0003c0003t0077 a0003c0003t0079 a0003c0003t0083 a0003c0003t0086 a0004c0004t0070 a0005c0005t0018 a0006c0006t0017 a0006c0006t0064 a0013c0011t0063	a0003c0003t0006g0167 a0003c0003t0006g0171 a0003c0003t0006g0178 others(34): Show a0003c0003t0006g0167 a0003c0003t0006g0171 a0003c0003t0006g0178 a0003c0003t0006g0182 a0003c0003t0006g0250 a0003c0003t0006g0307 a0003c0003t0006g0308 a0003c0003t0010g0089 a0003c0003t0010g0203 a0003c0003t0010g0246 a0003c0003t0010g0274 a0003c0003t0011g0053 a0003c0003t0011g0070 a0003c0003t0011g0072 a0003c0003t0011g0159 a0003c0003t0011g0336 a0003c0003t0033g0026 a0003c0003t0033g0028 a0003c0003t0034g0209 a0003c0003t0034g0276 a0003c0003t0071g0331 a0003c0003t0073g0080 a0003c0003t0074g0071 a0003c0003t0077g0207 a0003c0003t0079g0204 a0003c0003t0083g0273 a0003c0003t0086g0116 a0004c0004t0070g0113 a0005c0005t0018g0078 a0005c0005t0018g0111 a0005c0005t0018g0112 a0006c0006t0017g0054 a0006c0006t0017g0118 a0006c0006t0017g0287 a0006c0006t0017g0344 a0006c0006t0064g0064 a0013c0011t0063g0255	37	366	0.1011	32	c.51 others(41): Show c.515_*516insATCCATCCATCCATCCATCCACCTATCCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	516	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKB1_chr4_102496359_102622302	102551347	G G	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGCGCGCGCGCGCATGTGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03209.hp2 HG02976.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0231 a0001c0001t0003g0230 a0001c0001t0001g0231 a0001c0001t0003g0230	2	328	0.0061	32	c.258 others(51): Show c.258+13406_258+13407insCGCGCGCGCGCATGTGTGTGTGTGTG TGTGTG	NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
NFYC_chr1_40686704_40776603	40763152	G G	GTATATCT others(25): Show GTATATCTATAGCTATATATATACCTTGATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03453.hp2 HG02615.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0087 a0001c0001t0002g0078 a0001c0001t0002g0087	2	332	0.0060	32	c.720 others(47): Show c.720+144_720+175dupCTATAGCTATATATATACCTTGATATATAT AT	NFYC	ENSG00000066136.21	transcript	ENST00000447388.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFYC_chr1_40686704_40776603	40763256	A A	ATAGCTAT others(25): Show ATAGCTATATATATACCTTGATATATATATCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	332	0.0030	32	c.720 others(47): Show c.720+240_720+271dupCTGTAGCTATATATATACCTTGATATATAT AT	NFYC	ENSG00000066136.21	transcript	ENST00000447388.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCTCCTCC others(25): Show TCTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	366	0.0027	32	c.90- others(45): Show c.90-402_90-401insGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGEF_chr2_232873701_233018256	232995367	A A	ACAGTATG others(25): Show ACAGTATGTATACCGTATACAGTATGTATACCG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	362	0.0028	32	c.-75 others(51): Show c.-75+17700_-75+17701insCGGTATACATACTGTATACGGTATAC ATACTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAT others(25): Show ATATATATACAGTATGTATACGTATGTATACTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02572.hp1 HG02615.hp2 others(4): Show HG00738.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp2 HG02965.hp2 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0003 a0001c0002t0011 a0001c0002t0028 others(1): Show a0001c0002t0003 a0001c0002t0011 a0001c0002t0028 a0001c0012t0010	a0001c0002t0003g0290 a0001c0002t0011g0019 a0001c0002t0011g0140 others(4): Show a0001c0002t0003g0290 a0001c0002t0011g0019 a0001c0002t0011g0140 a0001c0002t0011g0289 a0001c0002t0011g0291 a0001c0002t0028g0020 a0001c0012t0010g0340	7	362	0.0193	32	c.-75 others(51): Show c.-75+17495_-75+17496insCAGTATACATACGTATACATACTGTA TATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159578	T T	TATATATA others(25): Show TATATATATATGCATATATATGCATATATATGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	350	0.0029	32	c.-1+ others(47): Show c.-1+1141_-1+1142insGCATATATATGCATATATATGCATATATAT AT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NHLRC2_chr10_113849661_113922194	113896993	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0181 a0001c0001t0016g0181	1	358	0.0028	32	c.104 others(51): Show c.1040-1100_1040-1099insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NHLRC2	ENSG00000196865.4	transcript	ENST00000369301.3	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
NHP2_chr5_178144463_178158885	178156565	G G	GGGGGGGG others(25): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	418	0.0024	32	c.-27 others(43): Show c.-2749_-2748insACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	NHP2	ENSG00000145912.10	transcript	ENST00000274606.8	protein_coding		2681		chr5	TogoVar
NHSL2_chrX_71905845_72158286	71963999	A A	ATATGTAT others(25): Show ATATGTATGTATATATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	187	0.0054	32	c.280 others(51): Show c.280+52632_280+52633insTATGTATGTATATATATATGTATATA TATATG	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7			chrX	TogoVar
NHS_chrX_17370200_17740994	17378059	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	164	0.0061	32	c.565 others(49): Show c.565+1764_565+1765insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17615203	C C	CGTATATA others(25): Show CGTATATATATACATATATATACACATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	164	0.0061	32	c.566 others(51): Show c.566-72527_566-72526insATATATATACACATATATATGTATAT ATATAC	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NID2_chr14_51999809_52074059	52035856	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03491.hp1 NA18954.hp2 HG02056.hp1 HG03491.hp1 NA18954.hp2	a0002 a0024 a0002 a0024	a0002c0004 a0024c0062 a0002c0004 a0024c0062	a0002c0004t0001 a0024c0062t0002 a0002c0004t0001 a0024c0062t0002	a0002c0004t0001g0118 a0002c0004t0001g0159 a0024c0062t0002g0306 a0002c0004t0001g0118 a0002c0004t0001g0159 a0024c0062t0002g0306	3	372	0.0081	32	c.225 others(51): Show c.2257+2890_2257+2891insTATATATATATATATATATATATATA TATATA	NID2	ENSG00000087303.19	transcript	ENST00000216286.10	protein_coding	9/21			chr14	TogoVar
NIM1K_chr5_43187225_43285850	43198207	C C	CTTTCTCT others(25): Show CTTTCTCTTTCTTTCTTTCTTTCCTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	292	0.0034	32	c.-69 others(51): Show c.-695+5797_-695+5798insTTCTCTTTCTTTCTTTCTTTCCTTCT TTCTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43253211	T T	TATAATGT others(25): Show TATAATGTAATATATAATATAATATATAATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	292	0.0034	32	c.292 others(49): Show c.292+7146_292+7147insAATGTAATATATAATATAATATATAATA TAAT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18988.hp1 NA19010.hp1 NA18943.hp2 NA18988.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0002g0153 a0001c0001t0001g0143 a0001c0001t0001g0151 a0001c0001t0002g0153	3	404	0.0074	32	c.33+ others(49): Show c.33+33431_33+33432insATATATATATTTTTTTTTTTTTTTTTTT TTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0366 a0001c0001t0002g0366	1	404	0.0025	32	c.33+ others(49): Show c.33+33431_33+33432insATATATATATATTTTTTTTTTTTTTTTT TTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	404	0.0025	32	c.33+ others(49): Show c.33+33431_33+33432insATATATATATATATTTTTTTTTTTTTTT TTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19056.hp2 HG02056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0149 a0001c0001t0001g0046 a0001c0001t0001g0149	2	404	0.0050	32	c.33+ others(49): Show c.33+33431_33+33432insATATATATATATATATTTTTTTTTTTTT TTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03516.hp2 NA18962.hp2 others(1): Show HG01175.hp2 HG03516.hp2 NA18962.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0001g0336 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0093 a0001c0001t0001g0336 a0001c0001t0002g0134	4	404	0.0099	32	c.33+ others(49): Show c.33+33431_33+33432insATATATATATATATATATTTTTTTTTTT TTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18982.hp2 HG00558.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0250 a0001c0001t0001g0036 a0001c0001t0001g0250	2	404	0.0050	32	c.33+ others(49): Show c.33+33431_33+33432insATATATATATATATATATATTTTTTTTT TTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	404	0.0025	32	c.33+ others(49): Show c.33+33431_33+33432insATATATATATATATATATATATTTTTTT TTTT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	648977	C C	CCTATCTA others(25): Show CCTATCTATCTGTCTATCTGTCTGTCTATCTAT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	404	0.0025	32	c.33+ others(49): Show c.33+14350_33+14351insATAGATAGACAGACAGATAGACAGATAG ATAG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	404	0.0025	32	c.33+ others(49): Show c.33+13796_33+13797insTATATATATATATATATATATATATATA TATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	649531	G G	GTATGTAT others(25): Show GTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	404	0.0025	32	c.33+ others(49): Show c.33+13796_33+13797insTATATATATATATATATATATATATATA CATA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NIPA1_chr15_22781644_22834789	22807782	T T	TTGTGTGT others(25): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0183 a0002c0003t0002g0183	1	400	0.0025	32	c.179 others(49): Show c.179-2945_179-2944insTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	NIPA1	ENSG00000170113.16	transcript	ENST00000337435.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0305 a0001c0002t0005g0305	1	332	0.0030	32	c.135 others(51): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	332	0.0030	32	c.135 others(51): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTCTCTATATAT ATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0304 a0001c0002t0005g0304	1	332	0.0030	32	c.135 others(51): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTCTATATATAT ATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	332	0.0030	32	c.135 others(51): Show c.135+13241_135+13242insCTCTCTCTCTCTCTCTATATATATAT ATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0294 a0001c0002t0005g0294	1	332	0.0030	32	c.135 others(51): Show c.135+13241_135+13242insCTCTCTCTCTCTCTATATATATATAT ATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(25): Show TATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	332	0.0030	32	c.135 others(51): Show c.135+13241_135+13242insCTCTCTCTCTATATATATATATATAT ATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0291 a0001c0001t0008g0291	1	332	0.0030	32	c.135 others(51): Show c.135+13241_135+13242insCTCTCTCTATATATATATATATATAT ATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98280761	T T	TATATATA others(25): Show TATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18947.hp1 NA18994.hp2 HG02135.hp1 NA18947.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0003g0148 a0001c0001t0004g0230 a0001c0002t0001g0149 a0001c0001t0003g0148 a0001c0001t0004g0230 a0001c0002t0001g0149	3	332	0.0090	32	c.135 others(51): Show c.135+13241_135+13242insCTCTCTATATATATATATATATATAT ATATAT	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	1/10			chr8	TogoVar
NKAIN1_chr1_31174745_31244887	31206237	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01517.hp2 others(7): Show HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02083.hp2 HG02135.hp1 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA19002.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0067 a0001c0001t0001g0076 others(7): Show a0001c0001t0001g0020 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0216 a0001c0001t0001g0275	10	338	0.0296	32	c.55- others(49): Show c.55-18051_55-18050insATTTATTTATTTATTTATTTATTTATTT ATTT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232396	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	338	0.0030	32	c.54+ others(47): Show c.54+7097_54+7098insATATATATATATATATATATATATATATAT AT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(25): Show TATATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02273.hp1 NA19081.hp2 HG01433.hp1 HG02273.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0074 a0001c0001t0002g0149 a0001c0001t0003g0265 a0001c0001t0002g0074 a0001c0001t0002g0149 a0001c0001t0003g0265	3	338	0.0089	32	c.54+ others(47): Show c.54+7069_54+7070insCTCTCTCTCTATATATATATATATATATAT AT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(25): Show TATATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	338	0.0030	32	c.54+ others(47): Show c.54+7069_54+7070insCTCTCTCTATATATATATATATATATATAT AT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(25): Show TATATATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	338	0.0030	32	c.54+ others(47): Show c.54+7069_54+7070insCTCTCTATATATATATATATATATATATAT AT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN1_chr1_31174745_31244887	31232424	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01515.hp1 HG01175.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0188 a0001c0001t0002g0189 a0001c0001t0001g0188 a0001c0001t0002g0189	2	338	0.0059	32	c.54+ others(47): Show c.54+7069_54+7070insCTCTATATATATATATATATATATATATAT AT	NKAIN1	ENSG00000084628.10	transcript	ENST00000373736.7	protein_coding	1/6			chr1	TogoVar
NKAIN2_chr6_123798865_124830640	123911785	A A	ATATGTAT others(25): Show ATATGTATATATATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0047 a0001c0002t0007g0047	1	66	0.0152	32	c.54+ others(51): Show c.54+107534_54+107535insGTATATATATATATGTATATATATAT ATGTAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123911801	G G	GTATATAT others(25): Show GTATATATATATATGTATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	66	0.0152	32	c.54+ others(51): Show c.54+107559_54+107560insTGTATATATATATATATGTATATATA TATATA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	123911803	A A	ATATATAT others(25): Show ATATATATATATGTGTATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	66	0.0152	32	c.54+ others(51): Show c.54+107559_54+107560insTGTGTATATATATATATATATGTATA TATATA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124331345	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	66	0.0152	32	c.193 others(51): Show c.193-23919_193-23888dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124815232	A A	ATATATAT others(25): Show ATATATATATGTATATATGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02602.hp1 HG03486.hp1 HG00741.hp1 HG02602.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0001t0001 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0006 a0001c0001t0003g0001 a0001c0002t0003g0029 a0001c0001t0001g0006 a0001c0001t0003g0001 a0001c0002t0003g0029	3	66	0.0455	32	c.536 others(49): Show c.536-3129_536-3098dupATATGTGTATATATATGTATATATGTAT ATAT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62845285	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19043.hp1 HG01081.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0066 a0002c0003t0084 a0001c0002t0066 a0002c0003t0084	a0001c0002t0066g0096 a0002c0003t0084g0108 a0001c0002t0066g0096 a0002c0003t0084g0108	2	144	0.0139	32	c.472 others(51): Show c.472-73140_472-73139insTATATATATATATATATATATATATA TATATA	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62870637	T T	TTGTATAT others(25): Show TTGTATATATATCTATATATAGATATATATAGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02109.hp2 HG02451.hp2 others(1): Show HG01069.hp2 HG02109.hp2 HG02451.hp2 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0067 a0001c0002t0001 a0002c0003t0083 a0001c0001t0067 a0001c0002t0001 a0002c0003t0083	a0001c0001t0067g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 others(1): Show a0001c0001t0067g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0002c0003t0083g0139	4	144	0.0278	32	c.472 others(51): Show c.472-47815_472-47814insGTATATATATCTATATATAGATATAT ATAGAT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKAIN3_chr8_62243854_62989904	62883457	G G	GTTGTTGT others(25): Show GTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0038 a0002c0003t0010g0038	1	144	0.0069	32	c.472 others(51): Show c.472-34994_472-34993insGTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NKX1-2_chr10_124440243_124455035	124447324	T T	TGCGGCGT others(25): Show TGCGGCGTCTCCGGCCGCTGGAAGGGAAGGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00639.hp2 others(47): Show HG00323.hp1 HG00558.hp1 HG00639.hp2 HG01074.hp2 HG01106.hp1 HG01358.hp1 HG01515.hp2 HG01981.hp1 HG02040.hp2 HG02074.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02615.hp1 HG02698.hp1 HG02895.hp1 HG02896.hp2 HG03017.hp2 HG03225.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18940.hp2 NA18943.hp1 NA18956.hp2 NA18964.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp2 NA19077.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2	a0002 a0006 a0012 a0002 a0006 a0012	a0002c0002 a0002c0004 a0006c0007 others(1): Show a0002c0002 a0002c0004 a0006c0007 a0012c0009	a0002c0002t0005 a0002c0002t0006 a0002c0002t0014 others(3): Show a0002c0002t0005 a0002c0002t0006 a0002c0002t0014 a0002c0004t0004 a0006c0007t0004 a0012c0009t0005	a0002c0002t0005g0004 a0002c0002t0006g0005 a0002c0002t0014g0018 others(3): Show a0002c0002t0005g0004 a0002c0002t0006g0005 a0002c0002t0014g0018 a0002c0004t0004g0006 a0006c0007t0004g0012 a0012c0009t0005g0020	50	446	0.1121	32	c.10 others(41): Show c.104_*105insGCCCCTTCCCTTCCAGCGGCCGGAGACGCCGC	NKX1-2	ENSG00000229544.9	transcript	ENST00000451024.5	protein_coding	2/2	104		chr10	TogoVar

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