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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NRK_chrX_105817539_105963610	105941555	A A	AGAGAGAG AGAGAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	219	0.0046	7	c.395 others(26): Show c.3958+1523_3958+1524insGAGAGAG	NRK	ENSG00000123572.17	transcript	ENST00000243300.14	protein_coding	23/28			chrX	TogoVar
NRM_chr6_30683049_30695984	30686941	T T	TGACAGTC TGACAGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02293.hp2 NA20300.hp1 HG01978.hp1 HG02293.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	3	443	0.0068	7	c.17 others(18): Show c.1719_*1720insGACTGTC	NRM	ENSG00000137404.15	transcript	ENST00000376421.7	protein_coding		1107		chr6	TogoVar
NRP1_chr10_33172493_33339667	33273093	A A	AGTGGGGG AGTGGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01123.hp1 others(13): Show HG00738.hp1 HG00741.hp1 HG01123.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02451.hp1 HG03225.hp1 NA18954.hp2 NA18989.hp2 NA18998.hp1 NA19043.hp2 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0001c0017 a0002c0004	a0001c0001t0001 a0001c0001t0027 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0027 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0003 a0001c0016t0001 a0001c0016t0013 a0001c0017t0001 a0002c0004t0002	a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0027g0217 others(13): Show a0001c0001t0001g0207 a0001c0001t0001g0222 a0001c0001t0027g0217 a0001c0002t0003g0078 a0001c0002t0003g0215 a0001c0002t0004g0206 a0001c0002t0004g0216 a0001c0002t0006g0073 a0001c0003t0003g0188 a0001c0016t0001g0230 a0001c0016t0013g0227 a0001c0017t0001g0246 a0002c0004t0002g0079 a0002c0004t0002g0081 a0002c0004t0002g0082 a0002c0004t0002g0083	16	262	0.0611	7	c.249 others(24): Show c.249-2244_249-2238dupCCCCCAC	NRP1	ENSG00000099250.18	transcript	ENST00000374867.7	protein_coding	2/16			chr10	TogoVar
NRSN1_chr6_24121215_24152530	24142191	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(67): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02257.hp1 HG02818.hp2 HG02897.hp1 HG03017.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18942.hp2 NA18947.hp1 NA18950.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp2 NA19001.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp2 NA19062.hp2 NA19074.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0034 a0002c0002t0014	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0001g0156 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0003g0175 a0001c0001t0003g0182 a0001c0001t0007g0212 a0001c0001t0012g0003 a0001c0001t0012g0186 a0001c0001t0013g0029 a0001c0001t0013g0246 a0001c0001t0016g0070 a0001c0001t0016g0113 a0001c0001t0020g0067 a0001c0001t0026g0230 a0001c0001t0028g0229 a0001c0001t0034g0032 a0002c0002t0014g0179	70	406	0.1724	7	c.190 others(24): Show c.190-3340_190-3334dupTTTTTTT	NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
NRSN2_chr20_342111_359862	342602	C C	CTTTTTTT CTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG02027.hp2 HG02258.hp1 others(6): Show HG01928.hp1 HG02027.hp2 HG02258.hp1 HG03225.hp1 NA19000.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0002c0002t0008 a0004c0006t0002 a0001c0001t0001 a0002c0002t0008 a0004c0006t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0068 a0001c0001t0001g0116 a0002c0002t0008g0162 a0004c0006t0002g0142	9	414	0.0217	7	c.-47 others(18): Show c.-4741_-4740insTTTTTTT	NRSN2	ENSG00000125841.13	transcript	ENST00000382285.7	protein_coding		4508		chr20	TogoVar
NRTN_chr19_5800067_5833324	5820735	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG00673.hp2 others(38): Show HG00408.hp1 HG00673.hp1 HG00673.hp2 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01361.hp2 HG01928.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp2 HG03834.hp1 HG04184.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18965.hp2 NA18981.hp1 NA18986.hp2 NA18990.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0002 a0001c0001t0015 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0023 a0005c0008t0016	a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0105 others(35): Show a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0105 a0001c0001t0002g0118 a0001c0001t0002g0139 a0001c0001t0002g0153 a0001c0001t0002g0162 a0001c0001t0002g0169 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0288 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0330 a0001c0001t0002g0336 a0001c0001t0002g0349 a0001c0001t0002g0367 a0001c0001t0015g0123 a0001c0001t0023g0216 a0005c0008t0016g0182	41	402	0.1020	7	c.-39 others(26): Show c.-398-3031_-398-3030insAAAAAAA	NRTN	ENSG00000171119.3	transcript	ENST00000303212.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
NRXN1_chr2_49913503_51037132	49942614	T T	TATTATTA TATTATTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03225.hp2 HG06807.hp2 HG01123.hp2 HG03225.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0017 a0001c0001t0044 a0005c0009t0004 a0001c0001t0017 a0001c0001t0044 a0005c0009t0004	a0001c0001t0017g0066 a0001c0001t0044g0058 a0005c0009t0004g0013 a0001c0001t0017g0066 a0001c0001t0044g0058 a0005c0009t0004g0013	3	116	0.0259	7	c.421 others(26): Show c.4216+1089_4216+1090insTAATAAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	22/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50013273	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp2 NA19240.hp1 others(1): Show HG02886.hp1 HG03471.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0018 a0001c0001t0055 others(1): Show a0001c0001t0010 a0001c0001t0018 a0001c0001t0055 a0001c0002t0045	a0001c0001t0010g0025 a0001c0001t0018g0068 a0001c0001t0055g0031 others(1): Show a0001c0001t0010g0025 a0001c0001t0018g0068 a0001c0001t0055g0031 a0001c0002t0045g0087	4	116	0.0345	7	c.412 others(28): Show c.4128+39991_4128+39997dupAAAAAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50019641	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG01109.hp1 others(35): Show HG00438.hp1 HG00609.hp1 HG01109.hp1 HG01123.hp2 HG01261.hp1 HG01346.hp1 HG02027.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp1 HG03942.hp1 NA18941.hp1 NA18948.hp1 NA18959.hp2 NA18975.hp1 NA18975.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0024 a0001c0001t0032 a0001c0001t0035 a0001c0001t0043 a0001c0001t0052 a0001c0001t0057 a0001c0001t0062 a0001c0001t0064 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0034 a0001c0002t0047 a0001c0002t0065 a0001c0003t0051 a0001c0004t0007 a0001c0004t0038 a0001c0005t0012 a0002c0006t0031 a0005c0009t0004	a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0004g0010 others(35): Show a0001c0001t0001g0053 a0001c0001t0002g0033 a0001c0001t0004g0010 a0001c0001t0006g0027 a0001c0001t0006g0032 a0001c0001t0008g0057 a0001c0001t0009g0041 a0001c0001t0010g0025 a0001c0001t0013g0081 a0001c0001t0019g0072 a0001c0001t0019g0075 a0001c0001t0020g0063 a0001c0001t0020g0073 a0001c0001t0024g0014 a0001c0001t0032g0007 a0001c0001t0035g0061 a0001c0001t0043g0056 a0001c0001t0052g0043 a0001c0001t0057g0038 a0001c0001t0062g0064 a0001c0001t0064g0071 a0001c0002t0001g0101 a0001c0002t0003g0079 a0001c0002t0003g0094 a0001c0002t0003g0099 a0001c0002t0006g0108 a0001c0002t0008g0078 a0001c0002t0008g0091 a0001c0002t0034g0098 a0001c0002t0047g0102 a0001c0002t0065g0116 a0001c0003t0051g0034 a0001c0004t0007g0090 a0001c0004t0007g0093 a0001c0004t0038g0085 a0001c0005t0012g0002 a0002c0006t0031g0019 a0005c0009t0004g0013	38	116	0.3276	7	c.412 others(28): Show c.4128+33623_4128+33629dupTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50019947	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01934.hp2 HG02109.hp2 others(5): Show HG01109.hp1 HG01934.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG03486.hp2 NA19012.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0006 a0001c0001t0027 a0001c0001t0043 others(5): Show a0001c0001t0006 a0001c0001t0027 a0001c0001t0043 a0001c0001t0052 a0001c0001t0062 a0001c0002t0008 a0001c0002t0010 a0001c0005t0012	a0001c0001t0006g0032 a0001c0001t0027g0009 a0001c0001t0043g0056 others(5): Show a0001c0001t0006g0032 a0001c0001t0027g0009 a0001c0001t0043g0056 a0001c0001t0052g0043 a0001c0001t0062g0064 a0001c0002t0008g0078 a0001c0002t0010g0095 a0001c0005t0012g0002	8	116	0.0690	7	c.412 others(28): Show c.4128+33317_4128+33323dupTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	21/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50212049	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01169.hp2 others(4): Show HG00738.hp2 HG01099.hp1 HG01169.hp2 HG01934.hp1 HG01952.hp2 HG02074.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0004 a0001c0001t0009 a0001c0001t0022 others(3): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0022 a0001c0001t0025 a0001c0002t0054 a0001c0005t0030	a0001c0001t0004g0011 a0001c0001t0004g0015 a0001c0001t0009g0030 others(4): Show a0001c0001t0004g0011 a0001c0001t0004g0015 a0001c0001t0009g0030 a0001c0001t0022g0004 a0001c0001t0025g0012 a0001c0002t0054g0092 a0001c0005t0030g0016	7	116	0.0603	7	c.354 others(28): Show c.3546+24739_3546+24740insATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50219956	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01123.hp2 HG01261.hp1 others(12): Show HG00609.hp2 HG01123.hp2 HG01261.hp1 HG01517.hp1 HG02280.hp1 HG02922.hp2 HG03195.hp1 HG03540.hp2 HG03942.hp2 NA18941.hp1 NA18948.hp2 NA19043.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0005c0009	a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 others(12): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0036 a0001c0001t0042 a0001c0001t0058 a0001c0001t0061 a0001c0002t0040 a0001c0008t0016 a0001c0010t0063 a0001c0011t0015 a0005c0009t0004	a0001c0001t0001g0055 a0001c0001t0010g0025 a0001c0001t0020g0063 others(12): Show a0001c0001t0001g0055 a0001c0001t0010g0025 a0001c0001t0020g0063 a0001c0001t0023g0005 a0001c0001t0024g0014 a0001c0001t0029g0018 a0001c0001t0036g0062 a0001c0001t0042g0045 a0001c0001t0058g0067 a0001c0001t0061g0074 a0001c0002t0040g0096 a0001c0008t0016g0048 a0001c0010t0063g0059 a0001c0011t0015g0088 a0005c0009t0004g0013	15	116	0.1293	7	c.354 others(28): Show c.3546+16826_3546+16832dupATATATA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	18/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334192	A A	AATTATAT AATTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01099.hp2 others(25): Show HG00438.hp2 HG00609.hp2 HG01099.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01346.hp1 HG01433.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02717.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG06807.hp2 NA18941.hp1 NA18950.hp1 NA18959.hp2 NA18975.hp1 NA18975.hp2 NA19012.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0004c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(21): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0044 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0065 a0001c0004t0007 a0001c0005t0030 a0004c0013t0001	a0001c0001t0002g0033 a0001c0001t0004g0010 a0001c0001t0004g0017 others(25): Show a0001c0001t0002g0033 a0001c0001t0004g0010 a0001c0001t0004g0017 a0001c0001t0009g0051 a0001c0001t0011g0069 a0001c0001t0017g0065 a0001c0001t0017g0066 a0001c0001t0019g0072 a0001c0001t0019g0075 a0001c0001t0024g0014 a0001c0001t0025g0012 a0001c0001t0028g0008 a0001c0001t0029g0018 a0001c0001t0044g0058 a0001c0001t0046g0039 a0001c0001t0052g0043 a0001c0001t0053g0052 a0001c0001t0057g0038 a0001c0002t0001g0112 a0001c0002t0002g0086 a0001c0002t0007g0089 a0001c0002t0010g0106 a0001c0002t0013g0110 a0001c0002t0065g0116 a0001c0004t0007g0090 a0001c0004t0007g0093 a0001c0005t0030g0016 a0004c0013t0001g0111	28	116	0.2414	7	c.336 others(28): Show c.3365-97223_3365-97222insATATAAT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAGGAAAG AAGGAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA21309.hp1 HG03471.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0010 a0001c0004t0038 a0001c0001t0010 a0001c0004t0038	a0001c0001t0010g0025 a0001c0004t0038g0085 a0001c0001t0010g0025 a0001c0004t0038g0085	2	116	0.0172	7	c.336 others(28): Show c.3364+91762_3364+91763insCTTTCCT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50504140	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02074.hp2 HG02257.hp2 others(3): Show HG02055.hp1 HG02074.hp2 HG02257.hp2 HG02523.hp2 NA18959.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 others(3): Show a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0043 a0001c0001t0059 a0001c0001t0064	a0001c0001t0011g0070 a0001c0001t0014g0022 a0001c0001t0015g0037 others(3): Show a0001c0001t0011g0070 a0001c0001t0014g0022 a0001c0001t0015g0037 a0001c0001t0043g0056 a0001c0001t0059g0060 a0001c0001t0064g0071	6	116	0.0517	7	c.249 others(26): Show c.2497+2348_2497+2354dupTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	13/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50639223	T T	TTTCTTTC TTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01099.hp2 HG01123.hp2 others(16): Show HG00438.hp2 HG01099.hp2 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01934.hp1 HG02074.hp1 HG02132.hp1 HG02257.hp1 HG02300.hp1 HG02683.hp1 HG02922.hp2 HG03486.hp2 HG03491.hp1 HG03942.hp2 NA18948.hp1 NA18948.hp2 NA20752.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0005c0009	a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 others(16): Show a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0037 a0001c0001t0058 a0001c0001t0061 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0054 a0001c0003t0026 a0001c0011t0015 a0005c0009t0004	a0001c0001t0009g0051 a0001c0001t0016g0021 a0001c0001t0017g0065 others(16): Show a0001c0001t0009g0051 a0001c0001t0016g0021 a0001c0001t0017g0065 a0001c0001t0019g0075 a0001c0001t0021g0003 a0001c0001t0022g0004 a0001c0001t0023g0005 a0001c0001t0025g0012 a0001c0001t0032g0007 a0001c0001t0037g0050 a0001c0001t0058g0067 a0001c0001t0061g0074 a0001c0002t0003g0094 a0001c0002t0007g0089 a0001c0002t0008g0078 a0001c0002t0054g0092 a0001c0003t0026g0006 a0001c0011t0015g0088 a0005c0009t0004g0013	19	116	0.1638	7	c.833 others(26): Show c.833-15609_833-15608insGAAAGAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50865658	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01346.hp2 HG01433.hp1 others(4): Show HG00438.hp1 HG01346.hp2 HG01433.hp1 HG02300.hp1 HG02886.hp1 HG03942.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 others(4): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0046 a0001c0001t0058 a0001c0001t0061 a0001c0002t0045	a0001c0001t0018g0114 a0001c0001t0019g0075 a0001c0001t0020g0073 others(4): Show a0001c0001t0018g0114 a0001c0001t0019g0075 a0001c0001t0020g0073 a0001c0001t0046g0039 a0001c0001t0058g0067 a0001c0001t0061g0074 a0001c0002t0045g0087	7	116	0.0603	7	c.832 others(26): Show c.832+56204_832+56210dupAAAAAAA	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN2_chr11_64601174_64728197	64664818	C C	CTATTTTA CTATTTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02976.hp2 NA19030.hp1 HG01109.hp2 HG02976.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0017 a0002c0011 a0001c0007 a0001c0017 a0002c0011	a0001c0007t0007 a0001c0017t0007 a0002c0011t0007 a0001c0007t0007 a0001c0017t0007 a0002c0011t0007	a0001c0007t0007g0013 a0001c0017t0007g0189 a0002c0011t0007g0014 a0001c0007t0007g0013 a0001c0017t0007g0189 a0002c0011t0007g0014	3	308	0.0097	7	c.179 others(26): Show c.1798+2431_1798+2432insTAAAATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	9/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64724975	C C	CACACTCA CACACTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG01106.hp2 others(38): Show HG00280.hp1 HG00438.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02300.hp2 HG02602.hp1 HG02698.hp1 HG02809.hp2 HG03831.hp2 HG04115.hp2 HG04204.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18956.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA19010.hp1 NA19065.hp2 NA19068.hp1 NA19084.hp1 NA19087.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0002c0005 a0002c0013 a0004c0010	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0002c0004t0001 a0002c0005t0002 a0002c0005t0003 a0002c0013t0001 a0004c0010t0001	a0001c0001t0001g0152 a0001c0002t0001g0096 a0001c0002t0001g0097 others(37): Show a0001c0001t0001g0152 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0130 a0001c0002t0001g0137 a0001c0002t0001g0205 a0001c0002t0001g0225 a0001c0003t0003g0145 a0001c0003t0003g0227 a0001c0003t0003g0239 a0001c0003t0005g0105 a0001c0003t0006g0301 a0001c0003t0006g0302 a0001c0003t0006g0303 a0001c0003t0006g0304 a0001c0003t0006g0305 a0002c0004t0001g0001 a0002c0004t0001g0110 a0002c0004t0001g0113 a0002c0004t0001g0114 a0002c0004t0001g0116 a0002c0004t0001g0120 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0124 a0002c0004t0001g0125 a0002c0004t0001g0126 a0002c0004t0001g0155 a0002c0004t0001g0207 a0002c0004t0001g0209 a0002c0004t0001g0211 a0002c0004t0001g0213 a0002c0004t0001g0216 a0002c0004t0001g0217 a0002c0004t0001g0218 a0002c0005t0002g0219 a0002c0005t0002g0220 a0002c0005t0003g0210 a0002c0013t0001g0191 a0004c0010t0001g0224	41	308	0.1331	7	c.-22 others(18): Show c.-2250_-2249insTGAGTGT	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding		1779		chr11	TogoVar
NRXN3_chr14_78165373_79873291	78494421	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 NA19240.hp1 HG01243.hp2 HG02257.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0009 a0001c0006 a0001c0009	a0001c0006t0001 a0001c0006t0017 a0001c0009t0003 a0001c0006t0001 a0001c0006t0017 a0001c0009t0003	a0001c0006t0001g0023 a0001c0006t0017g0001 a0001c0009t0003g0017 a0001c0006t0001g0023 a0001c0006t0017g0001 a0001c0009t0003g0017	3	24	0.1250	7	c.758 others(28): Show c.758-150695_758-150694insTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78548242	A A	ACTTTGAT ACTTTGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03486.hp1 NA19240.hp1 HG02922.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0014 a0001c0003t0012 a0001c0006t0017 a0001c0001t0014 a0001c0003t0012 a0001c0006t0017	a0001c0001t0014g0004 a0001c0003t0012g0019 a0001c0006t0017g0001 a0001c0001t0014g0004 a0001c0003t0012g0019 a0001c0006t0017g0001	3	24	0.1250	7	c.758 others(26): Show c.758-96877_758-96871dupCTTTGAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	78757409	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01243.hp1 others(5): Show HG01081.hp2 HG01109.hp1 HG01243.hp1 HG01884.hp2 HG02257.hp1 HG02922.hp2 HG03486.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0004t0001 a0001c0004t0005 a0001c0004t0006 a0001c0007t0002 a0001c0008t0004	a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0001t0008g0008 others(5): Show a0001c0001t0002g0018 a0001c0001t0003g0013 a0001c0001t0008g0008 a0001c0004t0001g0005 a0001c0004t0005g0003 a0001c0004t0006g0021 a0001c0007t0002g0010 a0001c0008t0004g0014	8	24	0.3333	7	c.204 others(28): Show c.2044+42277_2044+42283dupAAAAAAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79508390	A A	ATTTTTTT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG03486.hp1 HG01109.hp2 HG01884.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0009 a0001c0003t0012 a0002c0005t0016 a0001c0003t0009 a0001c0003t0012 a0002c0005t0016	a0001c0003t0009g0024 a0001c0003t0012g0019 a0002c0005t0016g0022 a0001c0003t0009g0024 a0001c0003t0012g0019 a0002c0005t0016g0022	3	24	0.1250	7	c.344 others(28): Show c.3444+40998_3444+41004dupTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79590416	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp2 NA19240.hp2 HG01109.hp2 HG02922.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0010 a0001c0004t0006 a0002c0005t0016 a0001c0001t0010 a0001c0004t0006 a0002c0005t0016	a0001c0001t0010g0006 a0001c0004t0006g0021 a0002c0005t0016g0022 a0001c0001t0010g0006 a0001c0004t0006g0021 a0002c0005t0016g0022	3	24	0.1250	7	c.344 others(28): Show c.3445-73346_3445-73340dupAAAAAAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79617917	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 HG02922.hp2 others(3): Show HG01081.hp1 HG01884.hp1 HG02922.hp2 HG03453.hp2 HG03486.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0002 a0001c0001t0013 a0001c0003t0009 others(3): Show a0001c0001t0002 a0001c0001t0013 a0001c0003t0009 a0001c0004t0005 a0001c0004t0006 a0002c0005t0005	a0001c0001t0002g0018 a0001c0001t0013g0007 a0001c0003t0009g0024 others(3): Show a0001c0001t0002g0018 a0001c0001t0013g0007 a0001c0003t0009g0024 a0001c0004t0005g0003 a0001c0004t0006g0021 a0002c0005t0005g0002	6	24	0.2500	7	c.344 others(28): Show c.3445-45852_3445-45846dupAAAAAAA	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79649548	A A	ATGTTTAT ATGTTTAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03225.hp2 HG03486.hp1 others(2): Show HG01884.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0010	a0001c0001t0008 a0001c0003t0004 a0001c0003t0012 others(2): Show a0001c0001t0008 a0001c0003t0004 a0001c0003t0012 a0001c0007t0002 a0001c0010t0001	a0001c0001t0008g0008 a0001c0003t0004g0015 a0001c0003t0012g0019 others(2): Show a0001c0001t0008g0008 a0001c0003t0004g0015 a0001c0003t0012g0019 a0001c0007t0002g0020 a0001c0010t0001g0012	5	24	0.2083	7	c.344 others(28): Show c.3445-14229_3445-14223dupTGTTTAT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79819482	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 NA19240.hp1 HG02257.hp1 HG02257.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0009 a0001c0006 a0001c0007 a0001c0009	a0001c0006t0017 a0001c0007t0002 a0001c0009t0003 a0001c0006t0017 a0001c0007t0002 a0001c0009t0003	a0001c0006t0017g0001 a0001c0007t0002g0010 a0001c0009t0003g0017 a0001c0006t0017g0001 a0001c0007t0002g0010 a0001c0009t0003g0017	3	24	0.1250	7	c.409 others(28): Show c.4093+14306_4093+14312dupTTTTTTT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSA2_chr5_74762249_74785113	74784510	C C	CAAAAAAA CAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG02258.hp1 others(3): Show HG00741.hp1 HG01106.hp1 HG02258.hp1 HG02895.hp1 HG02965.hp1 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0024 a0001c0002t0003 a0001c0002t0024	a0001c0002t0003g0006 a0001c0002t0024g0053 a0001c0002t0003g0006 a0001c0002t0024g0053	6	402	0.0149	7	c.78 others(18): Show c.7839_*7840insAAAAAAA	NSA2	ENSG00000164346.10	transcript	ENST00000610426.5	protein_coding		4398		chr5	TogoVar
NSD1_chr5_177128773_177305213	177163023	G G	GGTTGGTC GGTTGGTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0045 a0002c0002t0003g0051 a0002c0002t0003g0083 a0002c0002t0003g0045 a0002c0002t0003g0051 a0002c0002t0003g0083	3	298	0.0101	7	c.927 others(26): Show c.927+26994_927+27000dupGTTGGTC	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD3_chr8_38264704_38387271	38357118	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02523.hp2 NA18985.hp2 others(2): Show HG01168.hp1 HG02523.hp2 NA18985.hp2 NA19005.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0024 a0001c0001t0002 a0001c0001t0024	a0001c0001t0002g0002 a0001c0001t0002g0040 a0001c0001t0002g0043 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0024g0057	5	226	0.0221	7	c.-44 others(24): Show c.-44-8910_-44-8904dupTTTTTTT	NSD3	ENSG00000147548.17	transcript	ENST00000317025.13	protein_coding	1/23			chr8	TogoVar
NSDHL_chrX_152826063_152874729	152853136	T T	TGTGTGTG TGTGTGTG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	324	0.0031	7	c.267 others(24): Show c.267+2714_267+2720dupGTGTGTG	NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NSMCE2_chr8_125086860_125372120	125179793	C C	CACTCCCT CACTCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 HG02970.hp1 others(3): Show HG02622.hp2 HG02922.hp2 HG02970.hp1 HG03209.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0154	6	244	0.0246	7	c.265 others(24): Show c.265-2306_265-2305insCCTACTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSRP1_chr17_30111816_30191475	30122386	T T	TATATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02683.hp1 HG02735.hp2 others(3): Show HG00597.hp2 HG02683.hp1 HG02735.hp2 HG03834.hp1 HG04228.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0230 others(3): Show a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0247 a0001c0001t0002g0251	6	282	0.0213	7	c.114 others(24): Show c.114+4213_114+4214insATATATA	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6			chr17	TogoVar
NSRP1_chr17_30111816_30191475	30187886	C C	CTTTTTTT CTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00597.hp2 others(31): Show HG00099.hp2 HG00280.hp2 HG00597.hp2 HG01070.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01993.hp1 HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18948.hp2 NA18961.hp1 NA18969.hp1 NA18969.hp2 NA19075.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0008 a0006c0007 a0001c0001 a0001c0008 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0008t0001 a0006c0007t0002	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 others(31): Show a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0171 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0276 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0008t0001g0156 a0006c0007t0002g0262	34	282	0.1206	7	c.22 others(18): Show c.2212_*2213insTTTTTTT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding		1412		chr17	TogoVar
NSUN2_chr5_6594239_6638044	6611448	T T	TAAAAAAA TAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02523.hp1 HG02523.hp2 others(16): Show HG02056.hp2 HG02523.hp1 HG02523.hp2 HG03710.hp1 HG03942.hp2 NA18955.hp1 NA18963.hp1 NA18967.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19060.hp2 NA19075.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0001 a0003c0005t0001 a0001c0002t0001 a0003c0005t0001	a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0212 others(14): Show a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0256 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0269 a0001c0002t0001g0295 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0303 a0001c0002t0001g0309 a0001c0002t0001g0312 a0001c0002t0001g0317 a0001c0002t0001g0366 a0003c0005t0001g0255	19	438	0.0434	7	c.109 others(24): Show c.1095+270_1095+276dupTTTTTTT	NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	10/18			chr5	TogoVar
NSUN2_chr5_6594239_6638044	6614120	A A	ACCCTCCC ACCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(63): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01256.hp1 HG01257.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01975.hp1 HG02109.hp2 HG02165.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18980.hp2 NA18981.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19057.hp2 NA19083.hp2 NA19087.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0002c0014 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0003t0001 a0001c0010t0001 a0002c0014t0003 a0003c0005t0001	a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0141 others(58): Show a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0232 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0235 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0284 a0001c0002t0001g0294 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0307 a0001c0002t0001g0313 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0322 a0001c0002t0001g0364 a0001c0002t0007g0229 a0001c0003t0001g0020 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0091 a0001c0003t0001g0093 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0121 a0001c0003t0001g0123 a0001c0010t0001g0057 a0001c0010t0001g0058 a0001c0010t0001g0059 a0001c0010t0001g0060 a0002c0014t0003g0262 a0003c0005t0001g0257 a0003c0005t0001g0272 a0003c0005t0001g0287	66	438	0.1507	7	c.102 others(26): Show c.1022-2323_1022-2322insGGGAGGG	NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	9/18			chr5	TogoVar
NSUN3_chr3_94058061_94136832	94088617	A A	ATGCTGAC ATGCTGAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG03041.hp1 others(1): Show HG02615.hp2 HG02809.hp1 HG03041.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0057 a0001c0001t0015 a0001c0001t0057	a0001c0001t0015g0178 a0001c0001t0015g0179 a0001c0001t0015g0268 others(1): Show a0001c0001t0015g0178 a0001c0001t0015g0179 a0001c0001t0015g0268 a0001c0001t0057g0267	4	334	0.0120	7	c.466 others(24): Show c.466+4169_466+4175dupGCTGACT	NSUN3	ENSG00000178694.10	transcript	ENST00000314622.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
NSUN4_chr1_46335807_46370018	46338852	C C	CTACAGCT CTACAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02717.hp1 HG03834.hp2 others(2): Show HG00544.hp2 HG02717.hp1 HG03834.hp2 NA18959.hp2 NA19240.hp2	a0004 a0007 a0009 a0004 a0007 a0009	a0004c0004 a0007c0007 a0009c0010 a0004c0004 a0007c0007 a0009c0010	a0004c0004t0004 a0004c0004t0052 a0007c0007t0027 others(1): Show a0004c0004t0004 a0004c0004t0052 a0007c0007t0027 a0009c0010t0053	a0004c0004t0004g0336 a0004c0004t0052g0308 a0007c0007t0027g0310 others(2): Show a0004c0004t0004g0336 a0004c0004t0052g0308 a0007c0007t0027g0310 a0007c0007t0027g0311 a0009c0010t0053g0029	5	388	0.0129	7	c.-19 others(18): Show c.-1975_-1974insTACAGCT	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding		1954		chr1	TogoVar
NSUN6_chr10_18540561_18656587	18545868	T T	TAAAAAAA TAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02083.hp2 HG02109.hp1 others(14): Show HG01891.hp1 HG02083.hp2 HG02109.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03579.hp1 HG03704.hp2 NA18945.hp1 NA18969.hp2 NA18988.hp2 NA19076.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015	a0001c0001t0008g0071 a0001c0001t0008g0102 a0001c0001t0008g0103 others(14): Show a0001c0001t0008g0071 a0001c0001t0008g0102 a0001c0001t0008g0103 a0001c0001t0008g0117 a0001c0001t0008g0125 a0001c0001t0008g0132 a0001c0001t0011g0191 a0001c0001t0011g0192 a0001c0001t0011g0193 a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0012g0220 a0001c0001t0012g0253 a0001c0001t0012g0263 a0001c0001t0012g0295 a0001c0001t0015g0317 a0001c0001t0015g0326	17	346	0.0491	7	c.58 others(14): Show c.58_*64dupTTTTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	11/11	64		chr10	TogoVar
NSUN6_chr10_18540561_18656587	18642232	T T	TCACTGCA TCACTGCA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02257.hp2 HG02886.hp2 others(6): Show HG00558.hp1 HG02257.hp2 HG02886.hp2 HG03017.hp2 HG03471.hp1 NA18978.hp2 NA19002.hp1 NA19068.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0006 a0001c0001t0007g0330 a0001c0001t0007g0331 others(5): Show a0001c0001t0007g0006 a0001c0001t0007g0330 a0001c0001t0007g0331 a0001c0001t0007g0332 a0001c0001t0007g0333 a0001c0001t0007g0334 a0001c0001t0007g0335 a0001c0001t0007g0336	9	346	0.0260	7	c.311 others(22): Show c.311+237_311+243dupTGCAGTG	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	3/10			chr10	TogoVar
NSUN7_chr4_40744955_40816184	40799073	C C	CTTTTTGT CTTTTTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp1 HG00642.hp1 others(64): Show HG00423.hp1 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01346.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp2 HG02074.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02698.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18951.hp2 NA18961.hp2 NA18967.hp1 NA18969.hp2 NA18972.hp2 NA18978.hp2 NA18980.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp1 NA19064.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19088.hp1 NA19240.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0008 a0011	a0001c0001 a0003c0003 a0004c0004 others(3): Show a0001c0001 a0003c0003 a0004c0004 a0004c0014 a0008c0008 a0011c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0029 a0001c0001t0033 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0003c0003t0006 a0003c0003t0011 a0003c0003t0015 a0003c0003t0016 a0004c0004t0008 a0004c0014t0008 a0008c0008t0005 a0011c0019t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0021 others(63): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0001g0316 a0001c0001t0002g0102 a0001c0001t0002g0194 a0001c0001t0004g0005 a0001c0001t0004g0092 a0001c0001t0004g0122 a0001c0001t0004g0150 a0001c0001t0004g0182 a0001c0001t0005g0052 a0001c0001t0005g0114 a0001c0001t0007g0241 a0001c0001t0007g0242 a0001c0001t0007g0245 a0001c0001t0007g0247 a0001c0001t0014g0131 a0001c0001t0029g0250 a0001c0001t0033g0081 a0001c0001t0041g0248 a0001c0001t0043g0091 a0001c0001t0047g0074 a0003c0003t0006g0060 a0003c0003t0011g0163 a0003c0003t0015g0158 a0003c0003t0016g0239 a0003c0003t0016g0355 a0003c0003t0016g0361 a0004c0004t0008g0070 a0004c0004t0008g0071 a0004c0014t0008g0046 a0008c0008t0005g0020 a0011c0019t0002g0104	67	392	0.1709	7	c.140 others(24): Show c.1400+174_1400+175insGTTTTTT	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39652030	C C	CAAAAAAA CAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG02135.hp2 HG04115.hp1 others(7): Show HG01099.hp2 HG02135.hp2 HG04115.hp1 NA18944.hp2 NA18973.hp1 NA18980.hp2 NA19000.hp2 NA19079.hp1 NA19085.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0014 a0001c0002t0019 a0001c0010t0019 a0001c0002t0014 a0001c0002t0019 a0001c0010t0019	a0001c0002t0014g0105 a0001c0002t0014g0106 a0001c0002t0014g0110 others(7): Show a0001c0002t0014g0105 a0001c0002t0014g0106 a0001c0002t0014g0110 a0001c0002t0014g0111 a0001c0002t0014g0112 a0001c0002t0014g0120 a0001c0002t0019g0100 a0001c0002t0019g0101 a0001c0002t0019g0103 a0001c0010t0019g0104	10	326	0.0307	7	c.70 others(18): Show c.7084_*7090dupTTTTTTT	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	6/6	7090		chr1	TogoVar
NT5C2_chr10_103083038_103198272	103087140	A A	ATTTTTTT ATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01070.hp1 HG01109.hp2 others(11): Show HG00544.hp1 HG01070.hp1 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG02055.hp2 HG02698.hp1 HG03098.hp1 HG03540.hp2 NA18965.hp1 NA18989.hp1 NA19002.hp1 NA19007.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0102 others(11): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0171 a0001c0002t0004g0017 a0001c0002t0004g0022	14	340	0.0412	7	c.25 others(18): Show c.2525_*2531dupAAAAAAA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding		897		chr10	TogoVar
NT5C2_chr10_103083038_103198272	103178954	C C	CTTTTTTT CTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03834.hp2 NA18943.hp2 others(8): Show HG02135.hp1 HG03834.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18953.hp2 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18989.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(8): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099	11	340	0.0324	7	c.-25 others(24): Show c.-25+2224_-25+2230dupAAAAAAA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	2/18			chr10	TogoVar
NT5C3A_chr7_33009130_33067776	33026353	G G	GAAAAAAA GAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01978.hp1 others(10): Show HG00741.hp1 HG01106.hp1 HG01978.hp1 HG02273.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02723.hp2 HG03834.hp1 NA18984.hp1 NA18989.hp1 NA19000.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0204 a0001c0001t0001g0207 others(10): Show a0001c0001t0001g0184 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0221 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0363	13	400	0.0325	7	c.237 others(22): Show c.237+457_237+463dupTTTTTTT	NT5C3A	ENSG00000122643.23	transcript	ENST00000610140.7	protein_coding	2/8			chr7	TogoVar
NT5C3A_chr7_33009130_33067776	33032423	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18943.hp2 NA18978.hp2 others(4): Show HG03516.hp2 NA18943.hp2 NA18978.hp2 NA18979.hp1 NA19002.hp1 NA19006.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0031 a0001c0002t0001g0033 others(4): Show a0001c0002t0001g0019 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0048	7	400	0.0175	7	c.139 others(24): Show c.139-5515_139-5509dupTTTTTTT	NT5C3A	ENSG00000122643.23	transcript	ENST00000610140.7	protein_coding	1/8			chr7	TogoVar
NT5C3A_chr7_33009130_33067776	33033894	A A	ATATATAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02723.hp1 others(4): Show HG02451.hp2 HG02622.hp1 HG02723.hp1 HG03041.hp2 HG03195.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0351 a0001c0001t0001g0352 others(4): Show a0001c0001t0001g0339 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0369 a0001c0001t0001g0380	7	400	0.0175	7	c.139 others(24): Show c.139-6980_139-6979insATATATA	NT5C3A	ENSG00000122643.23	transcript	ENST00000610140.7	protein_coding	1/8			chr7	TogoVar
NT5C3A_chr7_33009130_33067776	33039555	G G	GTTTTTTT GTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(140): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0007 a0003c0005t0001 a0001c0001t0001 a0001c0001t0007 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(137): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0007g0309 a0003c0005t0001g0016	143	400	0.3575	7	c.139 others(26): Show c.139-12641_139-12640insAAAAAAA	NT5C3A	ENSG00000122643.23	transcript	ENST00000610140.7	protein_coding	1/8			chr7	TogoVar
NT5DC1_chr6_116095853_116254497	116163126	C C	CAAAAAAA CAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02257.hp2 HG02280.hp2 others(6): Show HG01346.hp2 HG02257.hp2 HG02280.hp2 HG02976.hp2 NA18999.hp1 NA19054.hp1 NA19067.hp2 NA19087.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0085 a0001c0001t0003g0012 a0001c0001t0003g0018 others(6): Show a0001c0001t0002g0085 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0022 a0001c0001t0003g0045 a0001c0001t0004g0183 a0001c0001t0004g0257 a0001c0001t0010g0100 a0001c0001t0010g0101	9	300	0.0300	7	c.529 others(26): Show c.529+45191_529+45197dupAAAAAAA	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116163141	A A	AAAAAAAT AAAAAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01069.hp2 others(15): Show HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01261.hp2 HG02145.hp2 HG02258.hp2 HG02735.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0020 a0002c0002t0002 a0001c0001t0002 a0001c0001t0020 a0002c0002t0002	a0001c0001t0002g0004 a0001c0001t0002g0065 a0001c0001t0002g0066 others(14): Show a0001c0001t0002g0004 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0020g0232 a0001c0001t0020g0238 a0002c0002t0002g0069 a0002c0002t0002g0081	18	300	0.0600	7	c.529 others(26): Show c.529+45197_529+45198insAAAAATA	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar

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