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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NEK6_chr9_124252949_124358307	124289177	CCCCCCCC others(15): Show CCCCCCCCCGCCACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	368	0.0027	-22	c.-29 others(41): Show c.-29-12757_-29-12736delCCCCCCCGCCACACACACACAC	NEK6	ENSG00000119408.17	transcript	ENST00000320246.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEK7_chr1_198151998_198327420	198252528	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02922.hp2 HG01243.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0181 a0001c0001t0002g0182	2	346	0.0058	-22	c.58- others(35): Show c.58-493_58-472delTATATATATATATATATATATA	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NELFB_chr9_137250327_137278542	137267179	TGTGGGGC others(15): Show TGTGGGGCTGAGGTGGGGCTGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01175.hp1 others(1): Show HG00099.hp2 HG00642.hp2 HG01175.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0168 a0001c0001t0001g0015 a0001c0001t0001g0168	4	364	0.0110	-22	c.138 others(37): Show c.1383-39_1383-18delGGTGGGGCTGAGGTGGGGCTGA	NELFB	ENSG00000188986.9	transcript	ENST00000343053.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
NELFCD_chr20_58976256_59000113	58981547	CCCGGGGT others(15): Show CCCGGGGTCCCGCGGCGCGGCCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01169.hp1 HG01261.hp1 others(14): Show HG00323.hp1 HG01169.hp1 HG01261.hp1 HG01516.hp2 HG01517.hp2 HG02074.hp1 HG02155.hp2 HG02698.hp1 HG02735.hp2 HG03942.hp2 NA18612.hp1 NA18940.hp1 NA18944.hp1 NA18959.hp1 NA18997.hp1 NA19067.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0001c0001t0001 a0001c0003t0001 a0001c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0034 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0003t0001g0009 a0001c0003t0001g0015 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0007t0001g0009	17	438	0.0388	-22	c.60+ others(35): Show c.60+189_60+210delGCGGCGCGGCCGCCGGGGTCCC	NELFCD	ENSG00000101158.15	transcript	ENST00000652272.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
NELL1_chr11_20664586_21580686	20895271	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02717.hp2 HG02886.hp2 others(7): Show HG01496.hp1 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA18906.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0002c0002 a0002c0003 a0002c0007 a0011c0017	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0006t0003 a0001c0008t0001 a0002c0002t0001 a0002c0003t0004 a0002c0007t0005 a0011c0017t0005	a0001c0001t0001g0037 a0001c0001t0002g0001 a0001c0004t0001g0043 others(7): Show a0001c0001t0001g0037 a0001c0001t0002g0001 a0001c0004t0001g0043 a0001c0006t0003g0020 a0001c0008t0001g0036 a0001c0008t0001g0079 a0002c0002t0001g0067 a0002c0003t0004g0044 a0002c0007t0005g0004 a0011c0017t0005g0027	10	88	0.1136	-22	c.603 others(39): Show c.603+9753_603+9774delAAAAAAAAAAAAAAAAAAAAAA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21381873	ATGTTTAA others(15): Show ATGTTTAACTTGGGTATGGTCCC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	88	0.0114	-22	c.164 others(43): Show c.1645+10928_1645+10949delTTTAACTTGGGTATGGTCCCTG	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21441330	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0081 a0002c0010t0003g0081	1	88	0.0114	-22	c.164 others(43): Show c.1645+70413_1645+70434delGTGTGTGTGTGTGTGTGTGTGT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NETO1_chr18_72738756_72872987	72772817	CTCTCTCT others(15): Show CTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0343 a0001c0001t0011g0343	1	348	0.0029	-22	c.868 others(41): Show c.868+10839_868+10860delTATATATATATATAGAGAGAGA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NETO1_chr18_72738756_72872987	72772819	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02965.hp2 others(3): Show HG01884.hp1 HG02055.hp1 HG02965.hp2 HG03130.hp2 HG03225.hp2 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0006 a0003c0003t0046 a0001c0001t0003 a0003c0003t0006 a0003c0003t0046	a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0285 others(3): Show a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0285 a0003c0003t0006g0190 a0003c0003t0006g0191 a0003c0003t0046g0339	6	348	0.0172	-22	c.868 others(41): Show c.868+10837_868+10858delTATATATATATATATAGAGAGA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NETO1_chr18_72738756_72872987	72772823	CTCTATAT others(15): Show CTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20300.hp1 HG01255.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0016 a0003c0003t0006 a0001c0001t0016 a0003c0003t0006	a0001c0001t0016g0228 a0003c0003t0006g0180 a0001c0001t0016g0228 a0003c0003t0006g0180	2	348	0.0058	-22	c.868 others(41): Show c.868+10833_868+10854delTATATATATATATATATATAGA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NETO1_chr18_72738756_72872987	72772825	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0208 a0001c0001t0025g0111 a0001c0001t0001g0208 a0001c0001t0025g0111	2	348	0.0058	-22	c.868 others(41): Show c.868+10831_868+10852delTATATATATATATATATATATA	NETO1	ENSG00000166342.19	transcript	ENST00000327305.11	protein_coding	7/10			chr18	TogoVar
NEU4_chr2_241804193_241822413	241808058	CTTAGCCC others(15): Show CTTAGCCCAGGGACCTCGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0112 a0001c0004t0001g0112	1	319	0.0031	-22	c.-12 others(33): Show c.-1219_-1198delTTAGCCCAGGGACCTCGGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1134		chr2	TogoVar
NEUROD6_chr7_31332465_31345726	31334274	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	2	414	0.0048	-22	c.39 others(33): Show c.3959_*3980delAAGAAAGAAAGAAAGAAAGAAA	NEUROD6	ENSG00000164600.7	transcript	ENST00000297142.4	protein_coding		3190		chr7	TogoVar
NF2_chr22_29598633_29703598	29624798	CCTCTTTC others(15): Show CCTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0245 a0001c0001t0059g0245	1	344	0.0029	-22	c.115 others(41): Show c.115-11950_115-11929delCTTTCTTTCTTTCTTTCTTTCT	NF2	ENSG00000186575.19	transcript	ENST00000338641.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
NFASC_chr1_204823652_205027822	204839368	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp2 HG03225.hp1 HG03471.hp2	a0001 a0011 a0001 a0011	a0001c0015 a0011c0037 a0001c0015 a0011c0037	a0001c0015t0049 a0011c0037t0004 a0001c0015t0049 a0011c0037t0004	a0001c0015t0049g0119 a0011c0037t0004g0110 a0001c0015t0049g0119 a0011c0037t0004g0110	2	226	0.0089	-22	c.-20 others(43): Show c.-200+10615_-200+10636delACACACACACACACACACACAC	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204926394	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp2 HG03225.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0015 a0003c0019 a0001c0015 a0003c0019	a0001c0015t0049 a0003c0019t0003 a0001c0015t0049 a0003c0019t0003	a0001c0015t0049g0119 a0003c0019t0003g0116 a0001c0015t0049g0119 a0003c0019t0003g0116	2	226	0.0089	-22	c.-91 others(39): Show c.-91+5656_-91+5677delATATATATATATTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204926396	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02280.hp1 others(2): Show HG01243.hp1 HG02258.hp1 HG02280.hp1 HG02976.hp1 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0003c0009	a0001c0001t0004 a0001c0004t0041 a0001c0005t0007 others(1): Show a0001c0001t0004 a0001c0004t0041 a0001c0005t0007 a0003c0009t0007	a0001c0001t0004g0064 a0001c0004t0041g0065 a0001c0005t0007g0066 others(2): Show a0001c0001t0004g0064 a0001c0004t0041g0065 a0001c0005t0007g0066 a0003c0009t0007g0138 a0003c0009t0007g0165	5	226	0.0221	-22	c.-91 others(39): Show c.-91+5658_-91+5679delATATATATATTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204926398	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01081.hp2 others(11): Show HG00323.hp1 HG01069.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01256.hp2 HG01261.hp1 HG01496.hp2 HG01978.hp2 HG02630.hp2 HG03471.hp1 NA18522.hp1 NA18951.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0017 a0001c0021 a0001c0035 a0002c0013	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0050 a0001c0004t0001 a0001c0005t0022 a0001c0010t0004 a0001c0017t0001 a0001c0021t0001 a0001c0035t0036 a0002c0013t0001	a0001c0001t0007g0130 a0001c0002t0001g0180 a0001c0002t0002g0069 others(11): Show a0001c0001t0007g0130 a0001c0002t0001g0180 a0001c0002t0002g0069 a0001c0002t0002g0192 a0001c0002t0050g0099 a0001c0004t0001g0161 a0001c0005t0022g0134 a0001c0010t0004g0194 a0001c0017t0001g0173 a0001c0017t0001g0199 a0001c0021t0001g0170 a0001c0035t0036g0208 a0002c0013t0001g0022 a0002c0013t0001g0211	14	226	0.0620	-22	c.-91 others(39): Show c.-91+5660_-91+5681delATATATATTTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204926400	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0072 a0001c0042t0001g0072	1	226	0.0044	-22	c.-91 others(39): Show c.-91+5662_-91+5683delATATATTTTTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926394	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0004 a0001c0005t0052 a0001c0002t0004 a0001c0005t0052	a0001c0002t0004g0034 a0001c0005t0052g0033 a0001c0002t0004g0034 a0001c0005t0052g0033	2	264	0.0076	-22	c.-90 others(41): Show c.-90-17830_-90-17809delATATATATATATTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926396	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02280.hp1 others(4): Show HG01243.hp2 HG02258.hp1 HG02280.hp1 HG02976.hp1 HG03098.hp2 HG03654.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0005 a0001c0002t0043 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0043 a0001c0003t0004 a0001c0003t0007	a0001c0001t0002g0121 a0001c0001t0005g0139 a0001c0002t0043g0182 others(4): Show a0001c0001t0002g0121 a0001c0001t0005g0139 a0001c0002t0043g0182 a0001c0003t0004g0038 a0001c0003t0007g0042 a0001c0003t0007g0044 a0001c0003t0007g0181	7	264	0.0265	-22	c.-90 others(41): Show c.-90-17828_-90-17807delATATATATATTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926398	ATATATAT others(15): Show ATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(18): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00733.hp1 HG01069.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01978.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG03471.hp2 NA18522.hp1 NA18951.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010	a0001c0001t0002 a0001c0001t0013 a0001c0001t0025 others(9): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0053 a0001c0003t0001 a0001c0003t0024 a0001c0004t0001 a0001c0004t0038 a0001c0006t0005 a0001c0010t0026	a0001c0001t0002g0131 a0001c0001t0013g0065 a0001c0001t0025g0088 others(17): Show a0001c0001t0002g0131 a0001c0001t0013g0065 a0001c0001t0025g0088 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0002g0077 a0001c0002t0053g0237 a0001c0003t0001g0071 a0001c0003t0024g0041 a0001c0004t0001g0003 a0001c0004t0001g0051 a0001c0004t0001g0053 a0001c0004t0001g0064 a0001c0004t0001g0076 a0001c0004t0001g0078 a0001c0004t0001g0090 a0001c0004t0001g0130 a0001c0004t0038g0132 a0001c0006t0005g0054 a0001c0010t0026g0022	21	264	0.0796	-22	c.-90 others(41): Show c.-90-17826_-90-17805delATATATATTTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926400	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0150 a0001c0021t0001g0150	1	264	0.0038	-22	c.-90 others(41): Show c.-90-17824_-90-17803delATATATTTTTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69627323	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0096 a0002c0004t0006g0096	1	380	0.0026	-22	c.253 others(37): Show c.253+834_253+855delATATATATATATATATATATAT	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79424817	CTCTCTGT others(15): Show CTCTCTGTCTCTCTCCATCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0057 a0002c0003t0057	a0002c0003t0057g0246 a0002c0003t0057g0246	1	322	0.0031	-22	c.122 others(41): Show c.1227-8754_1227-8733delCTCTCTCCATCTCTGTCTCTGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51396038	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03017.hp2 HG02738.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0136 a0001c0001t0001g0047 a0001c0001t0001g0136	2	316	0.0063	-22	c.44 others(39): Show c.44+2583_*44+2604delTATATATATATATATATATATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51477535	CTATATAT others(15): Show CTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0297 a0001c0002t0019g0297	1	316	0.0032	-22	c.133 others(41): Show c.1333-1897_1333-1876delTATATATATATATATATATATA	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFATC3_chr16_68080370_68234259	68123808	AACCGTGT others(15): Show AACCGTGTCTCTACAAAAAATAC	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01934.hp1 HG02257.hp1 HG01433.hp2 HG01934.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0034 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0034 a0001c0004t0001g0088 a0001c0004t0001g0089	3	188	0.0160	-22	c.123 others(39): Show c.1238+689_1238+710delCCGTGTCTCTACAAAAAATACA	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC3_chr16_68080370_68234259	68167810	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01891.hp1 HG02622.hp2 others(15): Show HG01433.hp1 HG01891.hp1 HG02622.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 others(3): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0029 a0001c0001t0033	a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0014 others(15): Show a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0010g0010 a0001c0001t0010g0011 a0001c0001t0010g0019 a0001c0001t0010g0020 a0001c0001t0013g0001 a0001c0001t0013g0003 a0001c0001t0013g0004 a0001c0001t0017g0005 a0001c0001t0017g0006 a0001c0001t0029g0002 a0001c0001t0033g0007	18	188	0.0957	-22	c.177 others(39): Show c.1774+813_1774+834delTTTTTTTTTTTTTTTTTTTTTT	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
NFIA_chr1_61077561_61467788	61196898	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02622.hp1 HG03098.hp1 others(4): Show HG02027.hp1 HG02622.hp1 HG03098.hp1 HG03453.hp2 NA18990.hp2 NA19002.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0021 a0001c0003t0025	a0001c0001t0001g0059 a0001c0001t0002g0057 a0001c0001t0002g0060 others(4): Show a0001c0001t0001g0059 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0002t0001g0064 a0001c0002t0001g0139 a0001c0002t0021g0058 a0001c0003t0025g0142	7	156	0.0449	-22	c.560 others(41): Show c.560-80600_560-80579delTGTGTGTGTGTGTGTGTGTGTG	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61200010	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19074.hp2 HG01123.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0098 a0001c0002t0002g0051 a0001c0001t0001g0098 a0001c0002t0002g0051	2	156	0.0128	-22	c.560 others(41): Show c.560-77474_560-77453delATATATATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61284888	CTTATCCC others(15): Show CTTATCCCAGGAGAGACCCAGAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	156	0.0064	-22	c.625 others(39): Show c.625+7304_625+7325delTTATCCCAGGAGAGACCCAGAA	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10			chr1	TogoVar
NFIA_chr1_61077561_61467788	61334555	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02647.hp2 others(5): Show HG02145.hp2 HG02486.hp2 HG02647.hp2 HG02976.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0009 a0001c0001t0029 others(5): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0029 a0001c0001t0058 a0001c0002t0002 a0001c0002t0040 a0001c0002t0044 a0001c0002t0055	a0001c0001t0004g0146 a0001c0001t0009g0039 a0001c0001t0029g0069 others(5): Show a0001c0001t0004g0146 a0001c0001t0009g0039 a0001c0001t0029g0069 a0001c0001t0058g0114 a0001c0002t0002g0111 a0001c0002t0040g0131 a0001c0002t0044g0145 a0001c0002t0055g0117	8	156	0.0513	-22	c.700 others(39): Show c.700+2005_700+2026delATATATATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61391435	AACACACA others(15): Show AACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03540.hp1 HG06807.hp2 others(2): Show HG03195.hp2 HG03540.hp1 HG06807.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0030 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0030 a0001c0001t0045	a0001c0001t0006g0108 a0001c0001t0006g0136 a0001c0001t0008g0047 others(2): Show a0001c0001t0006g0108 a0001c0001t0006g0136 a0001c0001t0008g0047 a0001c0001t0030g0109 a0001c0001t0045g0063	5	156	0.0321	-22	c.107 others(41): Show c.1075+8102_1075+8123delCACACACACACACACACACACA	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIB_chr9_14076848_14319141	14080447	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03225.hp2 homoSapiens_chm13v2.hp1 HG03098.hp2 HG03225.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0096 a0001c0001t0003g0012 a0001c0001t0016g0157 a0001c0001t0001g0096 a0001c0001t0003g0012 a0001c0001t0016g0157	3	304	0.0099	-22	c.78 others(33): Show c.7840_*7861delAAAAAAAAAAAAAAAAAAAAAA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding		1400		chr9	TogoVar
NFIB_chr9_14076848_14319141	14170565	CCCAGGAG others(15): Show CCCAGGAGGCAGGCTGCAGTGAG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0079 a0001c0001t0027g0079	1	304	0.0033	-22	c.616 others(39): Show c.616+9140_616+9161delCTCACTGCAGCCTGCCTCCTGG	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	3/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14187005	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0264 a0001c0001t0101g0264	1	304	0.0033	-22	c.563 others(39): Show c.563-7247_563-7226delTACACACACACACACACACACA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216528	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCCCTCTGTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0078 a0001c0001t0050g0078	1	304	0.0033	-22	c.563 others(41): Show c.563-36770_563-36749delCACAGAGGGAGAGAGAGAGAGA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216534	CTCTCTCT others(15): Show CTCTCTCTCCCTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0084 a0001c0001t0060g0084	1	304	0.0033	-22	c.563 others(41): Show c.563-36776_563-36755delCACACACACAGAGGGAGAGAGA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIB_chr9_14076848_14319141	14216536	CTCTCTCC others(15): Show CTCTCTCCCTCTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03540.hp1 HG01884.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0072 a0001c0001t0011 a0001c0001t0072	a0001c0001t0011g0153 a0001c0001t0072g0295 a0001c0001t0011g0153 a0001c0001t0072g0295	2	304	0.0066	-22	c.563 others(41): Show c.563-36778_563-36757delCACACACACACAGAGGGAGAGA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	2/10			chr9	TogoVar
NFIC_chr19_3361583_3474217	3439333	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0098 a0001c0002t0040g0098	1	300	0.0033	-22	c.958 others(39): Show c.958+4147_958+4168delAAAAAAAAAAAAAAAAAAAAAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8631917	TGCAATGC others(15): Show TGCAATGCAGTGGCTCGATCTCA	T T	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0122 a0002c0002t0122	a0002c0002t0122g0335 a0002c0002t0122g0335	1	366	0.0027	-22	c.-41 others(39): Show c.-410-556_-410-535delAATGCAGTGGCTCGATCTCAGC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8653034	TTCTTTCT others(15): Show TTCTTTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0129 a0001c0001t0042g0129	1	366	0.0027	-22	c.-16 others(43): Show c.-164+17292_-164+17313delTTCTCTCTCTCTCTCTCTCTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKBIE_chr6_44253166_44270551	44260838	CACACACA others(15): Show CACACACACACACACACATACAG	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0060 a0003c0004t0001g0060	1	454	0.0022	-22	c.692 others(37): Show c.692-321_692-300delCTGTATGTGTGTGTGTGTGTGT	NFKBIE	ENSG00000146232.17	transcript	ENST00000619360.6	protein_coding	3/5			chr6	TogoVar
NFS1_chr20_35663052_35704352	35693055	TGGGGTCC others(15): Show TGGGGTCCTTGGGGAAGGAGAGG	T T	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	268	0.0037	-22	c.409 others(39): Show c.409-2512_409-2491delCCTCTCCTTCCCCAAGGACCCC	NFS1	ENSG00000244005.13	transcript	ENST00000374092.9	protein_coding	4/12			chr20	TogoVar
NGEF_chr2_232873701_233018256	233015911	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(80): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01074.hp2 HG01109.hp1 HG01361.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02148.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02818.hp2 HG02922.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0002c0006 a0002c0008 a0002c0009 a0002c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0029 a0001c0001t0033 a0001c0002t0009 a0001c0003t0002 a0001c0003t0005 a0001c0003t0027 a0001c0004t0003 a0001c0004t0004 a0001c0005t0002 a0001c0005t0006 a0001c0005t0009 a0001c0005t0016 a0001c0007t0001 a0001c0011t0001 a0002c0006t0001 a0002c0006t0006 a0002c0006t0007 a0002c0006t0008 a0002c0008t0004 a0002c0009t0005 a0002c0015t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 others(80): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0237 a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0006g0013 a0001c0001t0006g0083 a0001c0001t0006g0108 a0001c0001t0006g0275 a0001c0001t0007g0092 a0001c0001t0007g0247 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0001t0008g0107 a0001c0001t0008g0235 a0001c0001t0009g0040 a0001c0001t0009g0085 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0015g0236 a0001c0001t0029g0128 a0001c0001t0033g0106 a0001c0002t0009g0116 a0001c0003t0002g0087 a0001c0003t0002g0134 a0001c0003t0005g0113 a0001c0003t0027g0016 a0001c0004t0003g0216 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0045 a0001c0004t0004g0072 a0001c0004t0004g0080 a0001c0004t0004g0086 a0001c0004t0004g0090 a0001c0004t0004g0099 a0001c0004t0004g0218 a0001c0004t0004g0219 a0001c0004t0004g0220 a0001c0004t0004g0221 a0001c0004t0004g0223 a0001c0005t0002g0015 a0001c0005t0006g0105 a0001c0005t0009g0014 a0001c0005t0009g0017 a0001c0005t0016g0248 a0001c0007t0001g0084 a0001c0007t0001g0098 a0001c0011t0001g0088 a0001c0011t0001g0089 a0001c0011t0001g0114 a0002c0006t0001g0075 a0002c0006t0001g0103 a0002c0006t0006g0018 a0002c0006t0006g0074 a0002c0006t0006g0076 a0002c0006t0006g0095 a0002c0006t0007g0031 a0002c0006t0008g0096 a0002c0006t0008g0100 a0002c0006t0008g0111 a0002c0006t0008g0124 a0002c0008t0004g0069 a0002c0008t0004g0073 a0002c0008t0004g0078 a0002c0008t0004g0079 a0002c0008t0004g0081 a0002c0008t0004g0082 a0002c0008t0004g0091 a0002c0009t0005g0077 a0002c0015t0001g0110	83	362	0.2293	-22	c.-29 others(33): Show c.-2940_-2919delACACACACACACACACACACAC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding		2656		chr2	TogoVar
NGF_chr1_115280917_115343249	115333693	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0408 a0002c0002t0001g0408	1	418	0.0024	-22	c.-13 others(41): Show c.-137+4489_-137+4510delAAGAAAGAAAGAAAGAAAGAAA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGLY1_chr3_25713944_25788443	25733466	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03209.hp1 HG03471.hp1 HG02809.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0061	3	264	0.0114	-22	c.126 others(39): Show c.1260+384_1260+405delACACACACACACACACACACAC	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	8/11			chr3	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	264	0.0038	-22	c.492 others(39): Show c.492+3184_492+3205delTTTTTTTTTTTTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NGLY1_chr3_25713944_25788443	25783480	ACCGGCAG others(15): Show ACCGGCAGGGGCGGGGTCCTCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00733.hp2 HG00735.hp1 others(44): Show HG00408.hp1 HG00733.hp2 HG00735.hp1 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp2 HG06807.hp2 NA18944.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0041 others(43): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0141 a0001c0001t0001g0155 a0001c0001t0001g0178 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0002t0001g0051 a0001c0002t0001g0052 a0003c0006t0001g0224	47	264	0.1780	-22	c.-11 others(30): Show c.-112_-91delCCGAGGACCCCGCCCCTGCCGG	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding		38		chr3	TogoVar

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