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
NFILZ_chr19_8625633_8686151	8660552	TCTCCTTC others(21): Show TCTCCTTCCTTCCTTCCTCCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG01358.hp2 others(11): Show HG00140.hp2 HG01109.hp2 HG01358.hp2 HG02280.hp2 HG02451.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03486.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0009c0008	a0001c0001t0038 a0001c0001t0059 a0001c0001t0094 others(11): Show a0001c0001t0038 a0001c0001t0059 a0001c0001t0094 a0001c0001t0109 a0001c0001t0110 a0001c0001t0149 a0001c0001t0156 a0001c0001t0161 a0002c0002t0008 a0003c0003t0011 a0004c0004t0075 a0006c0006t0017 a0006c0006t0064 a0009c0008t0040	a0001c0001t0038g0117 a0001c0001t0059g0121 a0001c0001t0094g0340 others(11): Show a0001c0001t0038g0117 a0001c0001t0059g0121 a0001c0001t0094g0340 a0001c0001t0109g0345 a0001c0001t0110g0152 a0001c0001t0149g0339 a0001c0001t0156g0343 a0001c0001t0161g0342 a0002c0002t0008g0115 a0003c0003t0011g0053 a0004c0004t0075g0199 a0006c0006t0017g0344 a0006c0006t0064g0064 a0009c0008t0040g0289	14	366	0.0383	-28	c.-16 others(49): Show c.-163-13981_-163-13954delCCCCTCCCTCCCTCCTTCCTTCCT TCCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGF_chr1_115280917_115343249	115333706	TTTCTTTC others(21): Show TTTCTTTCTTTTCTTTCTTTCCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18989.hp2 HG01978.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0230 a0001c0001t0001g0104 a0001c0001t0001g0230	2	418	0.0048	-28	c.-13 others(47): Show c.-137+4470_-137+4497delGAAAGAAGGAAAGAAAGAAAAGAAAG AA	NGF	ENSG00000134259.6	transcript	ENST00000369512.3	protein_coding	1/2			chr1	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02615.hp2 HG03453.hp2 others(1): Show HG01934.hp2 HG02615.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0213 a0001c0001t0001g0218 others(1): Show a0001c0001t0001g0079 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0229	4	264	0.0152	-28	c.492 others(45): Show c.492+3178_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NHEJ1_chr2_219064357_219165815	219080640	CTTATATA others(21): Show CTTATATATATGCTAATATATATAAGCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00544.hp2 others(72): Show HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG01928.hp1 HG01978.hp1 HG01993.hp1 HG02071.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp2 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18985.hp1 NA18992.hp1 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19030.hp1 NA19058.hp1 NA19060.hp2 NA19067.hp1 NA19074.hp2 NA19076.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0004c0005t0016	a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0073 others(68): Show a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0313 a0001c0001t0002g0321 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0163 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0338 a0001c0001t0010g0161 a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0010g0335 a0001c0001t0015g0175 a0001c0001t0015g0180 a0001c0001t0015g0339 a0001c0001t0016g0104 a0001c0001t0016g0105 a0001c0001t0017g0008 a0001c0001t0017g0009 a0001c0001t0023g0152 a0001c0001t0023g0153 a0001c0001t0034g0139 a0001c0001t0038g0156 a0001c0001t0039g0130 a0001c0001t0044g0154 a0001c0001t0045g0200 a0001c0001t0048g0028 a0004c0005t0016g0123	75	350	0.2143	-28	c.589 others(45): Show c.589-2462_589-2435delAAGCTTATATATATTAGCATATATATAA	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	5/7			chr2	TogoVar
NHSL1_chr6_138417043_138504494	138489809	GGAGAGAG others(21): Show GGAGAGAGGGAGAGAGGGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01515.hp1 HG02004.hp1 others(1): Show HG01243.hp1 HG01515.hp1 HG02004.hp1 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0040 a0001c0001 a0001c0002 a0010c0040	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0010c0040t0010	a0001c0001t0001g0190 a0001c0001t0002g0255 a0001c0002t0001g0189 others(1): Show a0001c0001t0001g0190 a0001c0001t0002g0255 a0001c0002t0001g0189 a0010c0040t0010g0191	4	332	0.0121	-28	c.211 others(45): Show c.211+6382_211+6409delTCTCTCTCTCTCCCTCTCTCCCTCTCTC	NHSL1	ENSG00000135540.12	transcript	ENST00000343505.10	protein_coding	2/7			chr6	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp1 HG02015.hp1 others(32): Show HG00609.hp1 HG01358.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02293.hp1 HG02602.hp1 HG02738.hp1 HG03017.hp1 HG03654.hp1 HG03688.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18943.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18971.hp1 NA18974.hp1 NA18982.hp1 NA18984.hp1 NA19004.hp1 NA19007.hp1 NA19012.hp1 NA19076.hp1 NA19083.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0002c0002t0001 a0002c0002t0014 a0003c0004t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(32): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0104 a0001c0001t0007g0073 a0001c0001t0007g0102 a0001c0001t0013g0059 a0001c0001t0015g0079 a0002c0002t0001g0001 a0002c0002t0001g0035 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0089 a0002c0002t0001g0105 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0131 a0002c0002t0014g0063 a0003c0004t0001g0055	35	164	0.2134	-28	c.565 others(47): Show c.565+49222_565+49249delAAAAAAAAAAAAAAAAAAAAAAAAAA AA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN1_chr1_184786032_184979508	184809665	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATACATATATA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0139 a0001c0001t0019g0139	1	256	0.0039	-28	c.117 others(47): Show c.1174-1458_1174-1431delTATATATGTATATATATATACACACA CA	NIBAN1	ENSG00000135842.17	transcript	ENST00000367511.4	protein_coding	9/13			chr1	TogoVar
NIBAN2_chr9_127500343_127574073	127523190	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	332	0.0030	-28	c.589 others(43): Show c.589+461_589+488delATATATATATATATATATATATATATTT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIM1K_chr5_43187225_43285850	43198183	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	292	0.0034	-28	c.-69 others(47): Show c.-695+5774_-695+5801delTTCTTTCTTTCTTTCTTTCTTTCTCT TT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198191	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01175.hp1 HG02148.hp2 others(2): Show HG00323.hp2 HG01175.hp1 HG02148.hp2 HG03453.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0023 a0001c0001t0001g0094 a0001c0001t0001g0109 others(2): Show a0001c0001t0001g0023 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0218 a0001c0001t0003g0129	5	292	0.0171	-28	c.-69 others(47): Show c.-695+5782_-695+5809delTTCTTTCTTTCTTTCTCTTTCTTTCT TT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43198197	TTCTTTCT others(21): Show TTCTTTCTTTCTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02615.hp1 HG02165.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0002 a0001c0003t0002 a0001c0005t0002	a0001c0003t0002g0274 a0001c0005t0002g0267 a0001c0003t0002g0274 a0001c0005t0002g0267	2	292	0.0069	-28	c.-69 others(47): Show c.-695+5788_-695+5815delCTTTCTTTCTCTTTCTTTCTTTCTTT CT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43213149	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTTTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03491.hp2 HG03492.hp1 others(3): Show HG02970.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0001g0154 a0001c0001t0001g0204 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0154 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0003g0122	6	292	0.0206	-28	c.-69 others(49): Show c.-695+20754_-695+20781delTTTTCTTTCTTTCTTTCTTTCTTT CTTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NIM1K_chr5_43187225_43285850	43213165	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	292	0.0034	-28	c.-69 others(49): Show c.-695+20787_-695+20814delTTTCTTTCTTTCTTTCTTTCTTTC TTTC	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINL_chr20_25447697_25590531	25542697	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02055.hp1 others(5): Show HG01109.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02976.hp2 HG03209.hp2 HG03486.hp1	a0006 a0014 a0006 a0014	a0006c0006 a0014c0020 a0006c0006 a0014c0020	a0006c0006t0001 a0006c0006t0006 a0014c0020t0004 a0006c0006t0001 a0006c0006t0006 a0014c0020t0004	a0006c0006t0001g0201 a0006c0006t0001g0226 a0006c0006t0001g0227 others(5): Show a0006c0006t0001g0201 a0006c0006t0001g0226 a0006c0006t0001g0227 a0006c0006t0001g0230 a0006c0006t0001g0231 a0006c0006t0001g0232 a0006c0006t0006g0228 a0014c0020t0004g0042	8	310	0.0258	-28	c.-11 others(47): Show c.-11-16127_-11-16100delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NKAIN2_chr6_123798865_124830640	123976348	CATATATA others(21): Show CATATATATATATATATATATTCCCATAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG03540.hp1 HG02965.hp1 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0009 a0001c0001t0001 a0001c0001t0003 a0001c0002t0009	a0001c0001t0001g0019 a0001c0001t0003g0036 a0001c0002t0009g0050 a0001c0001t0001g0019 a0001c0001t0003g0036 a0001c0002t0009g0050	3	66	0.0455	-28	c.54+ others(47): Show c.54+172115_54+172142delTCCCATATATATATATATATATATAT AT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124616437	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	66	0.0152	-28	c.274 others(47): Show c.274-41722_274-41695delTTTTTTTTTTTTTTTTTTTTTTTTTT TT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN2_chr6_123798865_124830640	124759588	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	66	0.0152	-28	c.475 others(47): Show c.475-31710_475-31683delACACACACACACACACACACACACAC AC	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NKAIN3_chr8_62243854_62989904	62870734	TATATATA others(21): Show TATATATATCTAGATATCTAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0126 a0001c0002t0002g0126	1	144	0.0069	-28	c.472 others(47): Show c.472-47710_472-47683delCTAGATATCTAGATATATAGATATAT AT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NLGN1_chr3_173392744_174299372	173777619	GTCTGTCT others(21): Show GTCTGTCTGTCTGTCTATCTATCTATCTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0041 a0001c0004t0007g0041	1	44	0.0227	-28	c.554 others(47): Show c.554-30057_554-30030delGTCTGTCTGTCTATCTATCTATCTAT CT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN2_chr17_7402845_7424860	7424547	TTTCCTTC others(21): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA18989.hp2 NA18993.hp2 others(1): Show HG02970.hp2 NA18989.hp2 NA18993.hp2 NA19080.hp2	a0000 a0001 a0000 a0001	a0000c0010 a0001c0003 a0000c0010 a0001c0003	a0000c0010t0005 a0000c0010t0026 a0001c0003t0005 a0000c0010t0005 a0000c0010t0026 a0001c0003t0005	a0000c0010t0005g0030 a0000c0010t0026g0071 a0001c0003t0005g0006 others(1): Show a0000c0010t0005g0030 a0000c0010t0026g0071 a0001c0003t0005g0006 a0001c0003t0005g0122	4	418	0.0096	-28	c.67 others(39): Show c.6749_*6776delTTCCTTCCTTCCTTCCTTCCTTCCTTCC	NLGN2	ENSG00000169992.10	transcript	ENST00000302926.7	protein_coding		4688		chr17	TogoVar
NLGN3_chrX_71139841_71176201	71168856	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAGAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	278	0.0036	-28	c.170 others(45): Show c.1704-397_1704-370delGAAAGAAAGAAAGAGAAAGAAAAGAAAG	NLGN3	ENSG00000196338.15	transcript	ENST00000358741.4	protein_coding	7/7			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	5978272	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG01070.hp2 others(1): Show HG00408.hp2 HG00621.hp1 HG01070.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0006 a0001c0002t0003 a0001c0003t0006	a0001c0002t0003g0021 a0001c0002t0003g0024 a0001c0002t0003g0106 others(1): Show a0001c0002t0003g0021 a0001c0002t0003g0024 a0001c0002t0003g0106 a0001c0003t0006g0038	4	128	0.0313	-28	c.625 others(47): Show c.625+50980_625+51007delGAAAGAAAGAAAGAAAGAAAGAAAGA AA	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	5979719	TATATATG others(21): Show TATATATGTGTGTATATATACACACATAC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	128	0.0078	-28	c.625 others(47): Show c.625+49533_625+49560delGTATGTGTGTATATATACACACATAT AT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLGN4X_chrX_5885042_6233867	6021045	TCTCCCTC others(21): Show TCTCCCTCCCTCCCTCCCTCCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02040.hp1 HG02698.hp1 others(7): Show HG00423.hp2 HG02040.hp1 HG02698.hp1 NA18959.hp1 NA18962.hp1 NA18969.hp2 NA18977.hp1 NA19011.hp2 NA19065.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0030 others(7): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0044 a0001c0001t0011g0108 a0001c0006t0001g0088	10	128	0.0781	-28	c.625 others(45): Show c.625+8207_625+8234delGGAGGGAGGGAGGGAGGGAGGGAGGGAG	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	3/5			chrX	TogoVar
NLRC4_chr2_32219453_32269886	32233134	GAGGAAGG others(21): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02886.hp2 HG02970.hp2 others(3): Show HG01081.hp2 HG02886.hp2 HG02970.hp2 HG03491.hp2 NA18985.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0003t0002 a0002c0006t0003 a0001c0001t0001 a0001c0003t0002 a0002c0006t0003	a0001c0001t0001g0218 a0001c0001t0001g0339 a0001c0001t0001g0340 others(3): Show a0001c0001t0001g0218 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0003t0002g0014 a0002c0006t0003g0241 a0002c0006t0003g0303	6	394	0.0152	-28	c.278 others(47): Show c.2782+2239_2782+2266delTCCTTCCTTCCTTCCTTCCTTCCTTC CT	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	8/8			chr2	TogoVar
NLRP11_chr19_55780399_55836999	55819126	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 HG03688.hp1 others(2): Show HG02809.hp1 HG03098.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0016 a0001c0001 a0001c0003 a0001c0016	a0001c0001t0004 a0001c0001t0011 a0001c0003t0001 others(1): Show a0001c0001t0004 a0001c0001t0011 a0001c0003t0001 a0001c0016t0025	a0001c0001t0004g0185 a0001c0001t0004g0258 a0001c0001t0011g0328 others(2): Show a0001c0001t0004g0185 a0001c0001t0004g0258 a0001c0001t0011g0328 a0001c0003t0001g0273 a0001c0016t0025g0434	5	444	0.0113	-28	c.-62 others(43): Show c.-62-918_-62-891delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding	1/9			chr19	TogoVar
NLRP11_chr19_55780399_55836999	55821608	AAACCCAT others(21): Show AAACCCATTAACATTGTTAGTGATGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG00597.hp1 others(95): Show HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18968.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp1 NA18987.hp1 NA19002.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0007 a0010 a0011 a0013 a0015 a0016 a0017 a0018	a0001c0001 a0001c0003 a0001c0004 others(26): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0001c0037 a0001c0052 a0002c0002 a0002c0007 a0002c0040 a0002c0041 a0002c0054 a0002c0055 a0004c0019 a0007c0056 a0007c0058 a0010c0059 a0011c0057 a0013c0042 a0015c0053 a0016c0048 a0017c0035 a0018c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0006 a0001c0004t0007 a0001c0005t0002 a0001c0006t0003 a0001c0006t0004 a0001c0008t0001 a0001c0008t0002 a0001c0008t0006 a0001c0008t0022 a0001c0009t0006 a0001c0011t0006 a0001c0013t0007 a0001c0014t0001 a0001c0016t0004 a0001c0037t0003 a0001c0052t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0007t0001 a0002c0007t0009 a0002c0040t0006 a0002c0041t0015 a0002c0054t0006 a0002c0055t0002 a0004c0019t0001 a0007c0056t0023 a0007c0058t0007 a0010c0059t0005 a0011c0057t0001 a0013c0042t0006 a0015c0053t0014 a0016c0048t0001 a0017c0035t0005 a0018c0044t0003	a0001c0001t0001g0288 a0001c0001t0002g0009 a0001c0001t0002g0116 others(92): Show a0001c0001t0001g0288 a0001c0001t0002g0009 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0219 a0001c0001t0002g0423 a0001c0001t0004g0005 a0001c0001t0004g0042 a0001c0001t0004g0085 a0001c0001t0004g0118 a0001c0001t0004g0168 a0001c0001t0004g0298 a0001c0001t0005g0006 a0001c0001t0005g0169 a0001c0001t0005g0172 a0001c0001t0007g0110 a0001c0001t0007g0122 a0001c0001t0007g0124 a0001c0001t0007g0275 a0001c0001t0007g0428 a0001c0001t0008g0031 a0001c0001t0008g0047 a0001c0001t0008g0400 a0001c0001t0009g0297 a0001c0001t0011g0012 a0001c0001t0011g0013 a0001c0001t0012g0112 a0001c0001t0015g0010 a0001c0003t0001g0011 a0001c0003t0001g0036 a0001c0003t0001g0121 a0001c0003t0001g0152 a0001c0003t0001g0299 a0001c0003t0001g0431 a0001c0003t0003g0119 a0001c0003t0003g0283 a0001c0003t0003g0373 a0001c0003t0004g0161 a0001c0003t0009g0068 a0001c0003t0009g0162 a0001c0004t0001g0014 a0001c0004t0001g0028 a0001c0004t0001g0030 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0038 a0001c0004t0001g0039 a0001c0004t0001g0041 a0001c0004t0001g0044 a0001c0004t0001g0046 a0001c0004t0001g0224 a0001c0004t0003g0045 a0001c0004t0003g0163 a0001c0004t0003g0165 a0001c0004t0004g0019 a0001c0004t0004g0043 a0001c0004t0006g0401 a0001c0004t0007g0115 a0001c0005t0002g0037 a0001c0006t0003g0097 a0001c0006t0004g0193 a0001c0006t0004g0420 a0001c0006t0004g0421 a0001c0008t0001g0100 a0001c0008t0002g0004 a0001c0008t0006g0098 a0001c0008t0022g0072 a0001c0009t0006g0300 a0001c0011t0006g0315 a0001c0013t0007g0164 a0001c0014t0001g0293 a0001c0016t0004g0170 a0001c0037t0003g0032 a0001c0052t0003g0296 a0002c0002t0001g0378 a0002c0002t0002g0029 a0002c0002t0002g0211 a0002c0002t0006g0342 a0002c0002t0006g0415 a0002c0007t0001g0120 a0002c0007t0009g0220 a0002c0040t0006g0433 a0002c0041t0015g0384 a0002c0054t0006g0306 a0002c0055t0002g0314 a0004c0019t0001g0171 a0007c0056t0023g0027 a0007c0058t0007g0322 a0010c0059t0005g0399 a0011c0057t0001g0099 a0013c0042t0006g0033 a0015c0053t0014g0101 a0016c0048t0001g0157 a0017c0035t0005g0123 a0018c0044t0003g0286	98	444	0.2207	-28	c.-62 others(45): Show c.-62-3400_-62-3373delCTCCCATCACTAACAATGTTAATGGGTT	NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819439	ATATATAT others(21): Show ATATATATATATATATATATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 NA19079.hp2 others(2): Show HG00423.hp2 HG00544.hp2 NA19079.hp2 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0039 a0001c0001 a0001c0039	a0001c0001t0001 a0001c0039t0001 a0001c0001t0001 a0001c0039t0001	a0001c0001t0001g0245 a0001c0001t0001g0315 a0001c0001t0001g0316 others(2): Show a0001c0001t0001g0245 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0039t0001g0411	5	416	0.0120	-28	c.289 others(45): Show c.289+4419_289+4446delCACACACACATATATATATATATATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957673	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02027.hp1 HG02145.hp1 others(5): Show HG01891.hp2 HG02027.hp1 HG02145.hp1 HG02572.hp2 HG02818.hp2 HG02886.hp1 NA18975.hp2 NA19030.hp2	a0000 a0007 a0008 a0000 a0007 a0008	a0000c0001 a0000c0003 a0000c0054 others(2): Show a0000c0001 a0000c0003 a0000c0054 a0007c0055 a0008c0026	a0000c0001t0012 a0000c0003t0002 a0000c0003t0049 others(3): Show a0000c0001t0012 a0000c0003t0002 a0000c0003t0049 a0000c0054t0029 a0007c0055t0047 a0008c0026t0023	a0000c0001t0012g0029 a0000c0003t0002g0146 a0000c0003t0049g0103 others(5): Show a0000c0001t0012g0029 a0000c0003t0002g0146 a0000c0003t0049g0103 a0000c0054t0029g0032 a0007c0055t0047g0031 a0008c0026t0023g0253 a0008c0026t0023g0254 a0008c0026t0023g0255	8	350	0.0229	-28	c.204 others(47): Show c.2042+1598_2042+1625delTATATATATATATATATATATATATA TA	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957698	TATATATA others(21): Show TATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0007 a0000c0001t0007	a0000c0001t0007g0093 a0000c0001t0007g0093	1	350	0.0029	-28	c.204 others(47): Show c.2042+1600_2042+1627delTATATATATATATATATATATATATA AA	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55957700	TATATATA others(21): Show TATATATATATATATATATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0000 a0000	a0000c0033 a0000c0033	a0000c0033t0062 a0000c0033t0062	a0000c0033t0062g0233 a0000c0033t0062g0233	1	350	0.0029	-28	c.204 others(47): Show c.2042+1601_2042+1628delATATATATATATATATATATATATAA AA	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	3/9			chr19	TogoVar
NLRP8_chr19_55942832_55993629	55986445	CTCTCTCT others(21): Show CTCTCTCTCACACACACACTCTCTCACAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG02293.hp2 others(4): Show HG01192.hp1 HG01243.hp2 HG02293.hp2 HG02572.hp1 HG02723.hp2 HG02970.hp1 HG03130.hp2	a0000 a0010 a0011 a0000 a0010 a0011	a0000c0002 a0000c0004 a0000c0011 others(3): Show a0000c0002 a0000c0004 a0000c0011 a0000c0013 a0010c0039 a0011c0062	a0000c0002t0070 a0000c0004t0059 a0000c0011t0006 others(3): Show a0000c0002t0070 a0000c0004t0059 a0000c0011t0006 a0000c0013t0042 a0010c0039t0010 a0011c0062t0010	a0000c0002t0070g0092 a0000c0004t0059g0209 a0000c0011t0006g0022 others(4): Show a0000c0002t0070g0092 a0000c0004t0059g0209 a0000c0011t0006g0022 a0000c0013t0042g0238 a0000c0013t0042g0239 a0010c0039t0010g0194 a0011c0062t0010g0326	7	350	0.0200	-28	c.304 others(47): Show c.3048-1368_3048-1341delTCTCTCTCACACACACACTCTCTCAC AT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	9/9			chr19	TogoVar
NME7_chr1_169127531_169372797	169355146	TATACTAT others(21): Show TATACTATATATTATAGATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03041.hp2 HG03195.hp1 HG02615.hp2 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185	3	302	0.0099	-28	c.3+1 others(43): Show c.3+12534_3+12561delTATATATTATATCTATAATATATAGTAT	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37882581	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0291 a0005c0006t0002g0291	1	388	0.0026	-28	c.995 others(45): Show c.995-1718_995-1691delAAGAAAGAAAGAAAGAGAGAGAGAGAGA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NME8_chr7_37843597_37905397	37882585	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02818.hp1 HG03669.hp1 others(6): Show HG01070.hp1 HG02818.hp1 HG03669.hp1 NA18942.hp2 NA18943.hp2 NA18966.hp1 NA19060.hp2 NA19081.hp1 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0007c0017	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0002c0002t0001 a0003c0003t0002 a0007c0017t0001	a0001c0001t0001g0035 a0001c0001t0001g0161 a0001c0001t0001g0166 others(6): Show a0001c0001t0001g0035 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0004g0254 a0001c0004t0001g0152 a0001c0004t0001g0223 a0002c0002t0001g0228 a0003c0003t0002g0341 a0007c0017t0001g0137	9	388	0.0232	-28	c.995 others(45): Show c.995-1702_995-1675delGAGAGAGAGAGAGAGAAAGAAAGAAAGA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183389736	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG02257.hp1 others(11): Show HG00735.hp1 HG01167.hp2 HG02257.hp1 HG02622.hp1 HG02698.hp1 HG02970.hp1 HG03130.hp1 HG03942.hp2 HG04204.hp1 NA18943.hp2 NA18979.hp1 NA18980.hp2 NA19004.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0001c0001t0028 a0001c0001t0036 a0001c0001t0070 a0001c0001t0079	a0001c0001t0001g0101 a0001c0001t0002g0219 a0001c0001t0003g0217 others(11): Show a0001c0001t0001g0101 a0001c0001t0002g0219 a0001c0001t0003g0217 a0001c0001t0004g0138 a0001c0001t0004g0216 a0001c0001t0005g0239 a0001c0001t0006g0100 a0001c0001t0006g0203 a0001c0001t0009g0143 a0001c0001t0017g0176 a0001c0001t0028g0218 a0001c0001t0036g0189 a0001c0001t0070g0113 a0001c0001t0079g0177	14	258	0.0543	-28	c.85+ others(45): Show c.85+28419_85+28446delCTTTCTTTCTTTCTTTCTTTCTTTCTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183389820	GAAAGAAA others(21): Show GAAAGAAAGAAAGAAAGAAAGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0116 a0001c0001t0066g0116	1	258	0.0039	-28	c.85+ others(45): Show c.85+28335_85+28362delTTTCCTTTCTTTCTTTCTTTCTTTCTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139596916	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	322	0.0031	-28	c.110 others(47): Show c.110-17889_110-17862delTATATATATATATATATATATATATA TA	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
NMT2_chr10_15100770_15173693	15112192	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0275 a0001c0001t0012g0275	1	276	0.0036	-28	c.133 others(45): Show c.1338+576_1338+603delAAAATATATATATATATATATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15112194	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0079 a0001c0001t0012g0079	1	276	0.0036	-28	c.133 others(45): Show c.1338+574_1338+601delAAAAAATATATATATATATATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15112196	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	276	0.0036	-28	c.133 others(45): Show c.1338+572_1338+599delAAAAAAAATATATATATATATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15112198	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02280.hp2 HG02559.hp2 others(3): Show HG00642.hp1 HG02280.hp2 HG02559.hp2 HG02717.hp1 HG02965.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0048 a0001c0001t0006g0108 a0001c0001t0006g0109 others(3): Show a0001c0001t0006g0048 a0001c0001t0006g0108 a0001c0001t0006g0109 a0001c0001t0006g0115 a0001c0001t0006g0120 a0001c0001t0006g0127	6	276	0.0217	-28	c.133 others(45): Show c.1338+570_1338+597delAAAAAAAAAATATATATATATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15112200	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0110 a0001c0001t0006g0110	1	276	0.0036	-28	c.133 others(45): Show c.1338+568_1338+595delAAAAAAAAAAAATATATATATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	10/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15139863	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp2 HG03139.hp1 others(1): Show HG02280.hp1 HG03130.hp2 HG03139.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0073 a0001c0002t0014g0087 a0001c0002t0014g0088 others(1): Show a0001c0002t0014g0073 a0001c0002t0014g0087 a0001c0002t0014g0088 a0001c0002t0014g0089	4	276	0.0145	-28	c.246 others(45): Show c.246+1531_246+1558delTATATATATATATATATATATATATATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	2/11			chr10	TogoVar
NOC2L_chr1_939203_964256	950413	GCACAGGT others(21): Show GCACAGGTACACACATGCAGACAGGTGCA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0004 a0001c0023t0004	a0001c0023t0004g0072 a0001c0023t0004g0072	1	422	0.0024	-28	c.144 others(45): Show c.1443+686_1443+713delTGCACCTGTCTGCATGTGTGTACCTGTG	NOC2L	ENSG00000188976.11	transcript	ENST00000327044.7	protein_coding	12/18			chr1	TogoVar
NOL3_chr16_67165538_67180737	67176054	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	298	0.0034	-28	c.10 others(39): Show c.1001_*1028delGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NOL3	ENSG00000140939.15	transcript	ENST00000564992.2	protein_coding		318		chr16	TogoVar
NOL4L_chr20_32438059_32590333	32488799	CTTTCTTT others(21): Show CTTTCTTTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03492.hp2 HG04204.hp2 others(1): Show HG02145.hp1 HG03492.hp2 HG04204.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0174 a0001c0001t0002g0134 a0001c0001t0005g0029 others(1): Show a0001c0001t0001g0174 a0001c0001t0002g0134 a0001c0001t0005g0029 a0001c0001t0007g0084	4	196	0.0204	-28	c.700 others(47): Show c.700-14085_700-14058delAAGAAAGAAAGAAAGAAAGAAAAAGA AA	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL6_chr9_33456353_33478924	33475150	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02109.hp2 others(15): Show HG01496.hp1 HG01884.hp1 HG02109.hp2 HG02486.hp2 HG02622.hp1 HG02630.hp2 HG02818.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0016 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0107 a0001c0001t0007g0013 a0001c0001t0007g0096 others(6): Show a0001c0001t0001g0107 a0001c0001t0007g0013 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0016g0021 a0002c0003t0001g0014 a0002c0003t0001g0098 a0003c0005t0001g0099 a0003c0005t0001g0106	18	438	0.0411	-28	c.-13 others(39): Show c.-1336_-1309delAAAAAATATATATATATATATATATATA	NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding		1227		chr9	TogoVar
NOL6_chr9_33456353_33478924	33475152	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01255.hp1 others(7): Show HG00639.hp2 HG00738.hp1 HG01255.hp1 NA18747.hp1 NA18966.hp1 NA18979.hp1 NA18990.hp1 NA18995.hp1 NA19066.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0095 a0001c0001t0001g0007 a0001c0001t0001g0095	10	438	0.0228	-28	c.-13 others(39): Show c.-1338_-1311delAAAAAAAATATATATATATATATATATA	NOL6	ENSG00000165271.17	transcript	ENST00000297990.9	protein_coding		1229		chr9	TogoVar
NOL9_chr1_6516347_6559513	6516881	TATATACA others(21): Show TATATACACATATATATATATATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp2 HG02559.hp1 others(15): Show HG02055.hp2 HG02145.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0004 a0002c0008 a0003c0005 others(1): Show a0002c0004 a0002c0008 a0003c0005 a0008c0011	a0002c0004t0010 a0002c0004t0028 a0002c0004t0072 others(7): Show a0002c0004t0010 a0002c0004t0028 a0002c0004t0072 a0002c0004t0073 a0002c0004t0074 a0002c0008t0020 a0002c0008t0021 a0002c0008t0051 a0003c0005t0031 a0008c0011t0075	a0002c0004t0010g0006 a0002c0004t0010g0016 a0002c0004t0010g0036 others(11): Show a0002c0004t0010g0006 a0002c0004t0010g0016 a0002c0004t0010g0036 a0002c0004t0028g0035 a0002c0004t0028g0038 a0002c0004t0072g0037 a0002c0004t0073g0034 a0002c0004t0074g0039 a0002c0008t0020g0017 a0002c0008t0021g0040 a0002c0008t0021g0042 a0002c0008t0051g0041 a0003c0005t0031g0113 a0008c0011t0075g0033	18	340	0.0529	-28	c.89 others(39): Show c.8945_*8972delGTGTATATATATATATATATGTGTATAT	NOL9	ENSG00000162408.11	transcript	ENST00000377705.6	protein_coding		4465		chr1	TogoVar

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