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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Select column to sort.

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Results per page.

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
NEGR1_chr1_71390943_72287539	71898964	CATATATA others(12): Show CATATATATATATATAGCAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20300.hp2 HG03041.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0053 a0001c0002t0010g0005 a0001c0002t0002g0053 a0001c0002t0010g0005	2	64	0.0313	-19	c.409 others(38): Show c.409+36096_409+36114delATGCTATATATATATATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71918216	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0043 a0001c0002t0003g0044 a0001c0001t0002g0043 a0001c0002t0003g0044	2	64	0.0313	-19	c.409 others(38): Show c.409+16844_409+16862delTTTTTTTTTTTTTTTTTTT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71942483	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	64	0.0156	-19	c.177 others(36): Show c.177-7191_177-7173delAAAAAAAAAAAAAAAAAAA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEK1_chr4_169387809_169617583	169477801	AAAATTAG others(12): Show AAAATTAGAGGAAAAAGTAG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG02451.hp1 others(6): Show HG01175.hp1 HG01358.hp2 HG02451.hp1 HG02717.hp1 HG02723.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0013 others(6): Show a0001c0003t0005g0011 a0001c0003t0005g0012 a0001c0003t0005g0013 a0001c0003t0005g0014 a0001c0003t0005g0015 a0001c0003t0005g0016 a0001c0003t0005g0017 a0001c0003t0005g0018 a0001c0003t0005g0019	9	260	0.0346	-19	c.214 others(36): Show c.2140-323_2140-305delCTACTTTTTCCTCTAATTT	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	24/35			chr4	TogoVar
NEK3_chr13_52127647_52164597	52159425	AGGGGCGC others(12): Show AGGGGCGCGGCCGCGCGTCC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02109.hp2 HG02647.hp1 others(4): Show HG01496.hp2 HG02109.hp2 HG02647.hp1 HG02809.hp2 HG03139.hp2 HG03209.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0183 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0001g0183 a0002c0002t0001g0184	7	398	0.0176	-19	c.-58 others(33): Show c.-58+99_-58+117delGGACGCGCGGCCGCGCCCC	NEK3	ENSG00000136098.18	transcript	ENST00000610828.5	protein_coding	1/15			chr13	TogoVar
NEK6_chr9_124252949_124358307	124289188	CACACACA others(12): Show CACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04199.hp2 HG03831.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0087 a0001c0001t0002g0040 a0001c0001t0002g0087	2	368	0.0054	-19	c.-29 others(38): Show c.-29-12747_-29-12729delACACACACACACACACACA	NEK6	ENSG00000119408.17	transcript	ENST00000320246.10	protein_coding	1/9			chr9	TogoVar
NEK7_chr1_198151998_198327420	198291494	GACACTAT others(12): Show GACACTATAGAAATTGGCGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp1 others(78): Show HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00733.hp1 HG00741.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02572.hp2 HG02602.hp1 HG02698.hp2 HG02976.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04204.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19055.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0025	a0001c0001t0001g0245 a0001c0001t0003g0001 a0001c0001t0003g0075 others(77): Show a0001c0001t0001g0245 a0001c0001t0003g0001 a0001c0001t0003g0075 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0167 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0331 a0001c0001t0004g0092 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0178 a0001c0001t0004g0340 a0001c0001t0015g0142 a0001c0001t0025g0146	81	346	0.2341	-19	c.590 others(36): Show c.590-1449_590-1431delCACTATAGAAATTGGCGTA	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEK8_chr17_28723788_28748455	28726306	CCCGCCTG others(12): Show CCCGCCTGCCCCCGCCCCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02258.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0025 a0001c0001t0029 a0001c0002t0025	a0001c0001t0029g0169 a0001c0002t0025g0049 a0001c0001t0029g0169 a0001c0002t0025g0049	2	370	0.0054	-19	c.-25 others(30): Show c.-2507_-2489delCCGCCTGCCCCCGCCCCGT	NEK8	ENSG00000160602.14	transcript	ENST00000268766.11	protein_coding		2481		chr17	TogoVar
NEK8_chr17_28723788_28748455	28731908	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02615.hp1 HG02723.hp1 others(7): Show HG02280.hp1 HG02615.hp1 HG02723.hp1 HG02818.hp1 HG02976.hp2 HG03225.hp2 HG04184.hp2 NA18978.hp2 NA19009.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 others(3): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0004g0089 a0001c0001t0008g0140 a0001c0001t0023g0139 others(7): Show a0001c0001t0004g0089 a0001c0001t0008g0140 a0001c0001t0023g0139 a0001c0002t0001g0054 a0001c0002t0001g0059 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0003g0210 a0001c0002t0004g0192	10	370	0.0270	-19	c.48- others(34): Show c.48-2053_48-2035delTTTTTTTTTTTTTTTTTTT	NEK8	ENSG00000160602.14	transcript	ENST00000268766.11	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
NELFA_chr4_1977723_2013974	1986020	AGCCCTGC others(12): Show AGCCCTGCCCGCCGAGCGTG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0132 a0001c0002t0001g0132	1	360	0.0028	-19	c.835 others(32): Show c.835+75_835+93delCACGCTCGGCGGGCAGGGC	NELFA	ENSG00000185049.16	transcript	ENST00000382882.9	protein_coding	6/10			chr4	TogoVar
NELFA_chr4_1977723_2013974	1993591	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	360	0.0028	-19	c.211 others(36): Show c.211-1895_211-1877delTCTTTTTCTTTCTTTCTTT	NELFA	ENSG00000185049.16	transcript	ENST00000382882.9	protein_coding	1/10			chr4	TogoVar
NELL1_chr11_20664586_21580686	20813006	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0081 a0002c0010t0003g0081	1	88	0.0114	-19	c.335 others(38): Show c.335+29199_335+29217delAAAAAAAAAAAAAAAAAAA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20895271	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0086 a0002c0003t0001g0086	1	88	0.0114	-19	c.603 others(36): Show c.603+9756_603+9774delAAAAAAAAAAAAAAAAAAA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEURL4_chr17_7310628_7334335	7319374	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(170): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0023	a0001c0001 a0001c0030 a0002c0002 others(14): Show a0001c0001 a0001c0030 a0002c0002 a0002c0012 a0002c0034 a0003c0004 a0003c0026 a0003c0028 a0010c0027 a0011c0022 a0012c0024 a0013c0025 a0015c0031 a0016c0032 a0017c0033 a0018c0035 a0023c0047	a0001c0001t0001 a0001c0030t0001 a0002c0002t0001 others(14): Show a0001c0001t0001 a0001c0030t0001 a0002c0002t0001 a0002c0012t0001 a0002c0034t0001 a0003c0004t0001 a0003c0026t0001 a0003c0028t0001 a0010c0027t0001 a0011c0022t0001 a0012c0024t0001 a0013c0025t0001 a0015c0031t0001 a0016c0032t0001 a0017c0033t0001 a0018c0035t0001 a0023c0047t0001	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0038 others(41): Show a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0089 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0030t0001g0049 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0019 a0002c0002t0001g0024 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0151 a0002c0012t0001g0037 a0002c0034t0001g0099 a0003c0004t0001g0002 a0003c0004t0001g0012 a0003c0004t0001g0015 a0003c0004t0001g0020 a0003c0004t0001g0029 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0061 a0003c0004t0001g0065 a0003c0026t0001g0066 a0003c0028t0001g0067 a0010c0027t0001g0068 a0011c0022t0001g0062 a0012c0024t0001g0063 a0013c0025t0001g0064 a0015c0031t0001g0097 a0016c0032t0001g0050 a0017c0033t0001g0098 a0018c0035t0001g0100 a0023c0047t0001g0161	173	408	0.4240	-19	c.352 others(36): Show c.3526-185_3526-167delAAAAAAAAAAAAAAAAAAA	NEURL4	ENSG00000215041.10	transcript	ENST00000399464.7	protein_coding	21/28			chr17	TogoVar
NEXN_chr1_77883624_77948895	77931231	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(123): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18960.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18999.hp1 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp2 NA19080.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0006 others(1): Show a0001c0001 a0002c0002 a0004c0006 a0005c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0002c0002t0001 a0004c0006t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0193 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0004g0047 a0001c0001t0004g0056 a0001c0001t0004g0075 a0001c0001t0004g0093 a0001c0001t0004g0116 a0001c0001t0004g0134 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0053 a0001c0001t0006g0057 a0001c0001t0007g0208 a0001c0001t0007g0209 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0013g0040 a0001c0001t0015g0117 a0002c0002t0001g0007 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0236 a0002c0002t0001g0260 a0004c0006t0001g0222 a0005c0005t0001g0082	126	268	0.4702	-19	c.105 others(38): Show c.1053+1742_1053+1760delAAAAAAAAAAAAAAAAAAA	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
NF1_chr17_31089977_31382675	31322501	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0129 a0001c0004t0009g0129	1	252	0.0040	-19	c.483 others(38): Show c.4836-3302_4836-3284delAAAAAAAAAAAAAAAAAAA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	36/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31331904	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	252	0.0040	-19	c.581 others(38): Show c.5812+1423_5812+1441delAAAAAAAAAAAAAAAAAAA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	39/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFASC_chr1_204823652_205027822	204926400	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01074.hp2 others(7): Show HG00558.hp2 HG00741.hp1 HG01074.hp2 HG02602.hp2 NA18612.hp2 NA18950.hp1 NA18974.hp1 NA18975.hp1 NA18982.hp2 NA19005.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0004 a0001c0022 others(4): Show a0001c0002 a0001c0004 a0001c0022 a0001c0026 a0002c0003 a0002c0006 a0005c0047	a0001c0002t0001 a0001c0004t0001 a0001c0022t0048 others(7): Show a0001c0002t0001 a0001c0004t0001 a0001c0022t0048 a0001c0026t0002 a0002c0003t0001 a0002c0003t0012 a0002c0003t0037 a0002c0006t0001 a0002c0006t0002 a0005c0047t0021	a0001c0002t0001g0057 a0001c0004t0001g0179 a0001c0022t0048g0150 others(7): Show a0001c0002t0001g0057 a0001c0004t0001g0179 a0001c0022t0048g0150 a0001c0026t0002g0178 a0002c0003t0001g0164 a0002c0003t0012g0222 a0002c0003t0037g0068 a0002c0006t0001g0037 a0002c0006t0002g0035 a0005c0047t0021g0077	10	226	0.0443	-19	c.-91 others(36): Show c.-91+5662_-91+5680delATATATTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926400	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01074.hp1 others(8): Show HG00558.hp2 HG00741.hp2 HG01074.hp1 HG01515.hp2 HG02602.hp1 NA18612.hp1 NA18947.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0001c0002t0020 a0001c0003t0001 a0001c0010t0025 a0002c0025t0012	a0001c0001t0001g0069 a0001c0001t0002g0101 a0001c0001t0014g0098 others(8): Show a0001c0001t0001g0069 a0001c0001t0002g0101 a0001c0001t0014g0098 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0020g0057 a0001c0003t0001g0127 a0001c0010t0025g0049 a0002c0025t0012g0148	11	264	0.0417	-19	c.-90 others(38): Show c.-90-17824_-90-17806delATATATTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFAT5_chr16_69560966_69709654	69561005	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02055.hp1 others(14): Show HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02647.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0027 a0001c0002t0050 a0001c0002t0008 a0001c0002t0027 a0001c0002t0050	a0001c0002t0008g0001 a0001c0002t0008g0162 a0001c0002t0008g0163 others(11): Show a0001c0002t0008g0001 a0001c0002t0008g0162 a0001c0002t0008g0163 a0001c0002t0008g0164 a0001c0002t0008g0165 a0001c0002t0008g0166 a0001c0002t0008g0167 a0001c0002t0008g0168 a0001c0002t0008g0170 a0001c0002t0008g0181 a0001c0002t0008g0370 a0001c0002t0027g0172 a0001c0002t0027g0173 a0001c0002t0050g0169	17	380	0.0447	-19	c.-52 others(30): Show c.-5296_-5278delAAAAAAAAAAAAAAAAAAA	NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding		4960		chr16	TogoVar
NFATC2_chr20_51381963_51547719	51398497	GGGGTCTA others(12): Show GGGGTCTAGCCCTTAAGAGC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG02809.hp1 others(2): Show HG02055.hp2 HG02615.hp2 HG02809.hp1 HG02896.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0017 a0001c0001t0024 a0001c0002t0017 others(2): Show a0001c0001t0017 a0001c0001t0024 a0001c0002t0017 a0001c0003t0017 a0001c0007t0032	a0001c0001t0017g0151 a0001c0001t0024g0197 a0001c0002t0017g0235 others(2): Show a0001c0001t0017g0151 a0001c0001t0024g0197 a0001c0002t0017g0235 a0001c0003t0017g0242 a0001c0007t0032g0301	5	316	0.0158	-19	c.44 others(34): Show c.44+127_*44+145delGCTCTTAAGGGCTAGACCC	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10			chr20	TogoVar
NFIB_chr9_14076848_14319141	14080447	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01358.hp1 HG01361.hp1 others(10): Show HG00323.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01934.hp2 HG02630.hp1 HG02717.hp1 HG02735.hp2 HG03490.hp1 NA18964.hp2 NA19043.hp2 NA19054.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0019 others(8): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0019 a0001c0001t0033 a0001c0001t0055 a0001c0001t0064 a0001c0001t0071 a0001c0001t0077 a0001c0001t0079 a0001c0001t0106 a0001c0001t0108	a0001c0001t0002g0263 a0001c0001t0016g0127 a0001c0001t0016g0134 others(10): Show a0001c0001t0002g0263 a0001c0001t0016g0127 a0001c0001t0016g0134 a0001c0001t0016g0178 a0001c0001t0019g0072 a0001c0001t0033g0303 a0001c0001t0055g0023 a0001c0001t0064g0003 a0001c0001t0071g0164 a0001c0001t0077g0256 a0001c0001t0079g0265 a0001c0001t0106g0099 a0001c0001t0108g0248	13	304	0.0428	-19	c.78 others(30): Show c.7843_*7861delAAAAAAAAAAAAAAAAAAA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding		1400		chr9	TogoVar
NFIB_chr9_14076848_14319141	14085373	ATGGGACT others(12): Show ATGGGACTGGGCGGTGAGGG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0022 a0001c0001t0044g0022	1	304	0.0033	-19	c.29 others(30): Show c.2917_*2935delCCCTCACCGCCCAGTCCCA	NFIB	ENSG00000147862.18	transcript	ENST00000380953.6	protein_coding	11/11	2917		chr9	TogoVar
NFIC_chr19_3361583_3474217	3439333	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG02055.hp2 others(9): Show HG01243.hp2 HG01433.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02615.hp1 HG02622.hp2 HG02896.hp2 HG02970.hp2 HG03209.hp2 NA18906.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 a0001c0001t0105 a0001c0002t0043 a0001c0002t0050 a0001c0002t0108 a0001c0002t0208 a0001c0002t0210 a0002c0003t0058 a0002c0003t0085 a0002c0003t0200	a0001c0001t0001g0006 a0001c0001t0006g0019 a0001c0001t0021g0275 others(9): Show a0001c0001t0001g0006 a0001c0001t0006g0019 a0001c0001t0021g0275 a0001c0001t0105g0049 a0001c0002t0043g0104 a0001c0002t0050g0277 a0001c0002t0108g0245 a0001c0002t0208g0273 a0001c0002t0210g0246 a0002c0003t0058g0200 a0002c0003t0085g0142 a0002c0003t0200g0219	12	300	0.0400	-19	c.958 others(36): Show c.958+4150_958+4168delAAAAAAAAAAAAAAAAAAA	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8661021	CTCCCTCC others(12): Show CTCCCTCCCTCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp2 HG02615.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0111 a0001c0001t0031 a0001c0001t0111	a0001c0001t0031g0061 a0001c0001t0111g0063 a0001c0001t0031g0061 a0001c0001t0111g0063	2	366	0.0055	-19	c.-16 others(40): Show c.-163-13526_-163-13508delCTCCCTCTCCCTCCCTTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8661030	TCTCCCTC others(12): Show TCTCCCTCCCTTCCGTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0166 a0002c0002t0166	a0002c0002t0166g0100 a0002c0002t0166g0100	1	366	0.0027	-19	c.-16 others(40): Show c.-163-13507_-163-13489delGTCCCCCTCCCTCCCTTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8661044	GTCCCCCT others(12): Show GTCCCCCTCCCTCCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0013 a0001c0001t0144g0013	1	366	0.0027	-19	c.-16 others(40): Show c.-163-13468_-163-13450delTCCCCCTCCCTCCCTTCCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NFKB1_chr4_102496359_102622302	102575289	TTCTGTCT others(12): Show TTCTGTCTCTGGGCCTCTGG	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	328	0.0031	-19	c.408 others(36): Show c.408-1585_408-1567delCTGTCTCTGGGCCTCTGGT	NFKB1	ENSG00000109320.14	transcript	ENST00000226574.9	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
NFU1_chr2_69391126_69442435	69433085	GGTTGCAG others(12): Show GGTTGCAGTGAGCCGAGATC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(242): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0004t0001 a0004c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(237): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0002g0361 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0264 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0357 a0002c0002t0001g0358 a0003c0004t0001g0141 a0003c0004t0001g0142 a0003c0004t0001g0143 a0003c0004t0001g0144 a0003c0004t0001g0145 a0004c0005t0001g0067 a0004c0005t0001g0091 a0004c0005t0001g0092 a0004c0005t0001g0096	245	368	0.6658	-19	c.63- others(34): Show c.63-1099_63-1081delGATCTCGGCTCACTGCAAC	NFU1	ENSG00000169599.13	transcript	ENST00000410022.7	protein_coding	1/7			chr2	TogoVar
NGEF_chr2_232873701_233018256	232969453	CCTTCCTT others(12): Show CCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04199.hp2 HG03704.hp1 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0174 a0001c0004t0004g0331 a0001c0004t0004g0174 a0001c0004t0004g0331	2	362	0.0055	-19	c.383 others(34): Show c.383+742_383+760delAAGGAAGGAAGGAAGGAAG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232969472	TCTTCCTT others(12): Show TCTTCCTTCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0058 a0001c0012t0001g0058	1	362	0.0028	-19	c.383 others(34): Show c.383+723_383+741delGAGGAAGGAAGGAAGGAAG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232972744	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(147): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01978.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18950.hp1 NA18953.hp2 NA18957.hp2 NA18962.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp2 NA18985.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19068.hp2 NA19082.hp2 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0001c0012 a0001c0013 a0002c0006 a0002c0008 a0002c0009 a0002c0010 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0002t0003 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0034 a0001c0002t0035 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0019 a0001c0003t0027 a0001c0004t0004 a0001c0004t0017 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 a0001c0005t0007 a0001c0005t0009 a0001c0005t0016 a0001c0005t0018 a0001c0005t0020 a0001c0007t0001 a0001c0007t0006 a0001c0007t0007 a0001c0011t0001 a0001c0012t0001 a0001c0012t0007 a0001c0012t0010 a0001c0013t0001 a0002c0006t0018 a0002c0008t0004 a0002c0008t0017 a0002c0009t0002 a0002c0010t0001 a0004c0016t0022	a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0121 others(147): Show a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0237 a0001c0001t0001g0337 a0001c0001t0001g0349 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0051 a0001c0001t0002g0123 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0241 a0001c0001t0002g0283 a0001c0001t0002g0293 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0003g0279 a0001c0001t0003g0358 a0001c0001t0005g0160 a0001c0001t0006g0158 a0001c0001t0006g0177 a0001c0001t0006g0246 a0001c0001t0006g0301 a0001c0001t0007g0044 a0001c0001t0007g0172 a0001c0001t0007g0247 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0007g0350 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0001t0008g0230 a0001c0001t0008g0235 a0001c0001t0009g0040 a0001c0001t0009g0245 a0001c0001t0009g0333 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0015g0276 a0001c0001t0015g0280 a0001c0001t0015g0281 a0001c0001t0016g0238 a0001c0001t0023g0011 a0001c0001t0029g0128 a0001c0001t0031g0021 a0001c0002t0003g0012 a0001c0002t0003g0215 a0001c0002t0003g0240 a0001c0002t0003g0242 a0001c0002t0003g0282 a0001c0002t0003g0298 a0001c0002t0003g0305 a0001c0002t0003g0309 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0009g0116 a0001c0002t0011g0122 a0001c0002t0011g0131 a0001c0002t0011g0133 a0001c0002t0011g0251 a0001c0002t0012g0056 a0001c0002t0034g0360 a0001c0002t0035g0361 a0001c0003t0002g0134 a0001c0003t0002g0294 a0001c0003t0002g0303 a0001c0003t0005g0041 a0001c0003t0005g0113 a0001c0003t0005g0136 a0001c0003t0005g0197 a0001c0003t0005g0217 a0001c0003t0005g0229 a0001c0003t0005g0286 a0001c0003t0005g0299 a0001c0003t0005g0300 a0001c0003t0005g0302 a0001c0003t0005g0304 a0001c0003t0005g0307 a0001c0003t0005g0332 a0001c0003t0005g0351 a0001c0003t0010g0022 a0001c0003t0010g0048 a0001c0003t0010g0146 a0001c0003t0010g0147 a0001c0003t0010g0148 a0001c0003t0010g0149 a0001c0003t0010g0151 a0001c0003t0019g0126 a0001c0003t0019g0159 a0001c0003t0027g0016 a0001c0004t0004g0032 a0001c0004t0004g0033 a0001c0004t0004g0034 a0001c0004t0004g0035 a0001c0004t0004g0036 a0001c0004t0004g0037 a0001c0004t0004g0038 a0001c0004t0004g0039 a0001c0004t0004g0045 a0001c0004t0004g0080 a0001c0004t0004g0174 a0001c0004t0004g0331 a0001c0004t0017g0003 a0001c0005t0001g0026 a0001c0005t0001g0050 a0001c0005t0001g0239 a0001c0005t0001g0252 a0001c0005t0001g0285 a0001c0005t0001g0306 a0001c0005t0001g0316 a0001c0005t0001g0317 a0001c0005t0001g0318 a0001c0005t0001g0329 a0001c0005t0001g0330 a0001c0005t0002g0015 a0001c0005t0005g0287 a0001c0005t0006g0164 a0001c0005t0006g0334 a0001c0005t0007g0025 a0001c0005t0007g0052 a0001c0005t0009g0014 a0001c0005t0009g0017 a0001c0005t0016g0248 a0001c0005t0018g0007 a0001c0005t0020g0002 a0001c0007t0001g0084 a0001c0007t0001g0315 a0001c0007t0006g0263 a0001c0007t0007g0042 a0001c0011t0001g0088 a0001c0011t0001g0089 a0001c0011t0001g0114 a0001c0012t0001g0058 a0001c0012t0007g0118 a0001c0012t0010g0340 a0001c0013t0001g0027 a0002c0006t0018g0004 a0002c0008t0004g0132 a0002c0008t0017g0005 a0002c0009t0002g0253 a0002c0009t0002g0254 a0002c0009t0002g0255 a0002c0010t0001g0250 a0004c0016t0022g0006	150	362	0.4144	-19	c.268 others(36): Show c.268+1860_268+1878delAAAAAAAAAAAAAAAAAAA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	2/14			chr2	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0097 a0001c0001t0001g0003 a0001c0001t0001g0097	3	264	0.0114	-19	c.492 others(36): Show c.492+3187_492+3205delTTTTTTTTTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NHEJ1_chr2_219064357_219165815	219091804	ATGTGTAT others(12): Show ATGTGTATATATGAAGTATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(199): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(34): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0025 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0002c0002t0006 a0002c0002t0024 a0004c0005t0016	a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 others(194): Show a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0168 a0001c0001t0002g0288 a0001c0001t0002g0313 a0001c0001t0002g0321 a0001c0001t0002g0340 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 a0001c0001t0004g0022 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0082 a0001c0001t0004g0102 a0001c0001t0004g0107 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0032 a0001c0001t0005g0042 a0001c0001t0005g0055 a0001c0001t0005g0090 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0006g0098 a0001c0001t0007g0039 a0001c0001t0007g0062 a0001c0001t0007g0071 a0001c0001t0007g0122 a0001c0001t0007g0290 a0001c0001t0007g0316 a0001c0001t0007g0317 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0010g0161 a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0010g0335 a0001c0001t0011g0069 a0001c0001t0011g0330 a0001c0001t0011g0331 a0001c0001t0011g0332 a0001c0001t0012g0002 a0001c0001t0012g0117 a0001c0001t0012g0160 a0001c0001t0013g0131 a0001c0001t0013g0341 a0001c0001t0013g0342 a0001c0001t0014g0076 a0001c0001t0014g0085 a0001c0001t0014g0086 a0001c0001t0015g0175 a0001c0001t0015g0180 a0001c0001t0015g0339 a0001c0001t0016g0104 a0001c0001t0016g0105 a0001c0001t0017g0008 a0001c0001t0017g0009 a0001c0001t0023g0152 a0001c0001t0023g0153 a0001c0001t0025g0010 a0001c0001t0033g0079 a0001c0001t0034g0139 a0001c0001t0035g0083 a0001c0001t0036g0077 a0001c0001t0037g0072 a0001c0001t0038g0156 a0001c0001t0039g0130 a0001c0001t0040g0048 a0001c0001t0041g0056 a0001c0001t0042g0114 a0001c0001t0043g0044 a0001c0001t0044g0154 a0001c0001t0045g0200 a0001c0001t0046g0159 a0001c0001t0047g0328 a0001c0001t0048g0028 a0001c0001t0049g0343 a0002c0002t0006g0124 a0002c0002t0006g0125 a0002c0002t0006g0126 a0002c0002t0006g0127 a0002c0002t0006g0146 a0002c0002t0006g0147 a0002c0002t0006g0148 a0002c0002t0006g0149 a0002c0002t0006g0150 a0002c0002t0006g0151 a0002c0002t0024g0128 a0002c0002t0024g0129 a0004c0005t0016g0123	202	350	0.5771	-19	c.589 others(38): Show c.589-13617_589-13599delCATACTTCATATATACACA	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	5/7			chr2	TogoVar
NHLH1_chr1_160362071_160377846	160367936	CCCCCCAT others(12): Show CCCCCCATAGTTCATTTGAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01192.hp1 others(4): Show HG00733.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp1 HG01517.hp1 HG02738.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	7	458	0.0153	-19	c.-17 others(36): Show c.-176+604_-176+622delCATAGTTCATTTGAACCCC	NHLH1	ENSG00000171786.6	transcript	ENST00000302101.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
NHSL2_chrX_71905845_72158286	71980560	GGTGTGTG others(12): Show GGTGTGTGGGGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	187	0.0054	-19	c.280 others(38): Show c.280+69201_280+69219delGGGTGTGTGTGTGTGTGTG	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NHS_chrX_17370200_17740994	17425522	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	164	0.0061	-19	c.565 others(38): Show c.565+49231_565+49249delAAAAAAAAAAAAAAAAAAA	NHS	ENSG00000188158.17	transcript	ENST00000676302.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
NIBAN2_chr9_127500343_127574073	127511186	AGGTGTGC others(12): Show AGGTGTGCACCACCATGCCC	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02004.hp2 HG01256.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0214 a0001c0001t0004g0054 a0001c0001t0003g0214 a0001c0001t0004g0054	2	332	0.0060	-19	c.974 others(34): Show c.974-872_974-854delGGGCATGGTGGTGCACACC	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	8/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127515525	AAAAAAAA others(12): Show AAAAAAAAAAAAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18950.hp2 NA18959.hp2 others(5): Show HG02129.hp2 NA18950.hp2 NA18959.hp2 NA18966.hp1 NA18986.hp1 NA19060.hp2 NA19068.hp1 NA19077.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0011 a0002c0003t0016 a0002c0003t0017 others(2): Show a0002c0003t0011 a0002c0003t0016 a0002c0003t0017 a0003c0004t0011 a0003c0004t0016	a0002c0003t0011g0259 a0002c0003t0011g0298 a0002c0003t0016g0012 others(5): Show a0002c0003t0011g0259 a0002c0003t0011g0298 a0002c0003t0016g0012 a0002c0003t0017g0015 a0002c0003t0017g0016 a0003c0004t0011g0213 a0003c0004t0011g0287 a0003c0004t0016g0011	8	332	0.0241	-19	c.973 others(36): Show c.973+1313_973+1331delGTTTGTTTTTTTTTTTTTT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	8/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523191	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0275	1	332	0.0030	-19	c.589 others(34): Show c.589+469_589+487delATATATATATATATATATT	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127523193	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0084 a0001c0001t0004g0084	1	332	0.0030	-19	c.589 others(34): Show c.589+467_589+485delATATATATATATATATATA	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13			chr9	TogoVar
NIBAN2_chr9_127500343_127574073	127524563	CGCTGGAA others(12): Show CGCTGGAATCCAGGAATGCT	C C	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18950.hp2 NA18959.hp2 others(5): Show HG02129.hp2 NA18950.hp2 NA18959.hp2 NA18966.hp1 NA18986.hp1 NA19060.hp2 NA19068.hp1 NA19077.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0011 a0002c0003t0016 a0002c0003t0017 others(2): Show a0002c0003t0011 a0002c0003t0016 a0002c0003t0017 a0003c0004t0011 a0003c0004t0016	a0002c0003t0011g0259 a0002c0003t0011g0298 a0002c0003t0016g0012 others(5): Show a0002c0003t0011g0259 a0002c0003t0011g0298 a0002c0003t0016g0012 a0002c0003t0017g0015 a0002c0003t0017g0016 a0003c0004t0011g0213 a0003c0004t0011g0287 a0003c0004t0016g0011	8	332	0.0241	-19	c.421 others(34): Show c.421+476_421+494delAGCATTCCTGGATTCCAGC	NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	4/13			chr9	TogoVar
NIM1K_chr5_43187225_43285850	43213194	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	292	0.0034	-19	c.-69 others(40): Show c.-695+20786_-695+20804delCTTTCTTTCTTTCTTTCTT	NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
NINJ1_chr9_93116496_93139251	93122867	GCTTGGGA others(12): Show GCTTGGGAGAGTTAGGGACT	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0103 a0001c0001t0016g0103	1	368	0.0027	-19	c.10 others(34): Show c.10-656_*10-638delAGTCCCTAACTCTCCCAAG	NINJ1	ENSG00000131669.10	transcript	ENST00000375446.5	protein_coding	3/3			chr9	TogoVar
NINJ2_chr12_559296_668445	633840	CACTGTCT others(12): Show CACTGTCTGCTAAATCAAGT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	404	0.0025	-19	c.33+ others(36): Show c.33+29469_33+29487delACTTGATTTAGCAGACAGT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NIN_chr14_50714763_50836162	50793366	ACCATTCC others(12): Show ACCATTCCACTCTCTGATCT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04199.hp1 HG04204.hp2 HG03688.hp2 HG04199.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0030 a0002c0015 a0001c0030 a0002c0015	a0001c0030t0004 a0002c0015t0002 a0001c0030t0004 a0002c0015t0002	a0001c0030t0004g0111 a0001c0030t0004g0274 a0002c0015t0002g0254 a0001c0030t0004g0111 a0001c0030t0004g0274 a0002c0015t0002g0254	3	292	0.0103	-19	c.266 others(34): Show c.266-504_266-486delAGATCAGAGAGTGGAATGG	NIN	ENSG00000100503.27	transcript	ENST00000530997.7	protein_coding	4/30			chr14	TogoVar
NIPAL1_chr4_48011772_48045173	48040610	ATTTTGTT others(12): Show ATTTTGTTTCCCTTGAAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	414	0.0024	-19	c.44 others(30): Show c.4439_*4457delTTTTGTTTCCCTTGAAATT	NIPAL1	ENSG00000163293.12	transcript	ENST00000295461.10	protein_coding		438		chr4	TogoVar
NIPAL2_chr8_98184826_98299235	98220930	ACACCTTC others(12): Show ACACCTTCATATTTCTCTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	332	0.0030	-19	c.558 others(36): Show c.558+1530_558+1548delATAGAGAAATATGAAGGTG	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	5/10			chr8	TogoVar
NIPAL2_chr8_98184826_98299235	98220964	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	332	0.0030	-19	c.558 others(36): Show c.558+1496_558+1514delAAAAAAAAAAAAAAAAAAA	NIPAL2	ENSG00000104361.10	transcript	ENST00000430223.7	protein_coding	5/10			chr8	TogoVar
NKAIN2_chr6_123798865_124830640	124616437	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03486.hp2 HG03579.hp2 HG02055.hp1 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0003g0024 a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0003g0024	3	66	0.0455	-19	c.274 others(38): Show c.274-41713_274-41695delTTTTTTTTTTTTTTTTTTT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar

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