Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MTDH_chr8_97639184_97735260	97682256	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG00733.hp1 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0007 a0001c0001t0024g0009 a0001c0001t0024g0007 a0001c0001t0024g0009	2	370	0.0054	-41	c.484 others(58): Show c.484-4410_484-4370delATATATATATATATATATATATATTTTT TTTTTTTTTTTTT	MTDH	ENSG00000147649.10	transcript	ENST00000336273.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
MTHFD1_chr14_64383353_64465025	64397123	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	342	0.0029	-41	c.42- others(56): Show c.42-3668_42-3628delAAAAAAAAAAAAAAATATATATATATATAT ATATATATATA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFD1_chr14_64383353_64465025	64397150	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02965.hp1 HG03041.hp1 others(1): Show HG01074.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 others(1): Show a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0115	4	342	0.0117	-41	c.42- others(56): Show c.42-3641_42-3601delTATATATATATATATATATATATATATATA TATATATATAA	MTHFD1	ENSG00000100714.18	transcript	ENST00000652337.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr14	TogoVar
MTHFS_chr15_79838547_79902014	79840192	TATATAAT others(34): Show TATATAATATATTATATATAATATATATATATAATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	394	0.0025	-41	c.49 others(52): Show c.4977_*5017delTATATATATTATATATATATATTATATATAATAT ATTATAT	MTHFS	ENSG00000136371.11	transcript	ENST00000258874.4	protein_coding		3354		chr15	TogoVar
MTUS2_chr13_28815339_29510947	29492119	TGTGTGTA others(34): Show TGTGTGTATGTGATGTGTGTGGTAGGTGTGTATGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp2 HG02055.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0024 a0002c0002t0003 a0002c0002t0024	a0002c0002t0003g0035 a0002c0002t0024g0059 a0002c0002t0003g0035 a0002c0002t0024g0059	2	92	0.0217	-41	c.350 others(58): Show c.3506-467_3506-427delTGGTAGGTGTGTATGTGTGTGTGGTGTG TATGTGATGTGTG	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MUC12_chr7_100964565_101023936	101018092	CTCCCTTC others(34): Show CTCCCTTCCCCCCTGGATTCCCTCCCTCCCCCTGGGACCCCT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp2 NA19088.hp1 others(1): Show HG02723.hp2 HG03098.hp2 NA19088.hp1 NA20129.hp2	a0035 a0264 a0265 others(1): Show a0035 a0264 a0265 a0266	a0035c0020 a0264c0276 a0265c0278 others(1): Show a0035c0020 a0264c0276 a0265c0278 a0266c0277	a0035c0020t0001 a0264c0276t0001 a0265c0278t0001 others(1): Show a0035c0020t0001 a0264c0276t0001 a0265c0278t0001 a0266c0277t0001	a0035c0020t0001g0122 a0264c0276t0001g0096 a0265c0278t0001g0097 others(1): Show a0035c0020t0001g0122 a0264c0276t0001g0096 a0265c0278t0001g0097 a0266c0277t0001g0107	4	342	0.0117	-41	c.159 others(60): Show c.15966+434_15967-458delTTCCCCCCTGGATTCCCTCCCTCCCC CTGGGACCCCTTCCC	MUC12	ENSG00000205277.10	transcript	ENST00000536621.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
MUC17_chr7_101015081_101063859	101018092	CTCCCTTC others(34): Show CTCCCTTCCCCCCTGGATTCCCTCCCTCCCCCTGGGACCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03098.hp1 NA20129.hp1 HG02723.hp1 HG03098.hp1 NA20129.hp1	a0023 a0042 a0023 a0042	a0023c0027 a0042c0042 a0023c0027 a0042c0042	a0023c0027t0002 a0042c0042t0001 a0023c0027t0002 a0042c0042t0001	a0023c0027t0002g0043 a0023c0027t0002g0044 a0042c0042t0001g0045 a0023c0027t0002g0043 a0023c0027t0002g0044 a0042c0042t0001g0045	3	366	0.0082	-41	c.-20 others(52): Show c.-2043_-2003delTCCCTTCCCCCCTGGATTCCCTCCCTCCCCCTGG GACCCCT	MUC17	ENSG00000169876.14	transcript	ENST00000306151.9	protein_coding		1988		chr7	TogoVar
MYO10_chr5_16656907_16941288	16891315	AGAGAAAA others(34): Show AGAGAAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00438.hp2 others(51): Show HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp2 NA18952.hp2 NA18966.hp2 NA18971.hp2 NA18980.hp1 NA18983.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19054.hp2 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA20300.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011 a0015 a0022 a0029 a0034	a0001c0001 a0001c0003 a0001c0016 others(13): Show a0001c0001 a0001c0003 a0001c0016 a0002c0002 a0002c0008 a0003c0006 a0003c0007 a0004c0004 a0005c0070 a0006c0009 a0006c0028 a0011c0013 a0015c0020 a0022c0050 a0029c0055 a0034c0063	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0073 a0001c0001t0074 a0001c0003t0005 a0001c0003t0008 a0001c0003t0021 a0001c0003t0022 a0001c0003t0137 a0001c0016t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0009 a0002c0002t0053 a0002c0002t0079 a0002c0002t0126 a0002c0002t0133 a0002c0002t0140 a0002c0008t0051 a0002c0008t0068 a0003c0006t0010 a0003c0006t0024 a0003c0006t0105 a0003c0006t0128 a0003c0007t0006 a0003c0007t0029 a0003c0007t0032 a0003c0007t0097 a0003c0007t0106 a0004c0004t0001 a0004c0004t0004 a0004c0004t0024 a0004c0004t0066 a0004c0004t0084 a0005c0070t0005 a0006c0009t0117 a0006c0028t0016 a0011c0013t0007 a0011c0013t0035 a0015c0020t0039 a0022c0050t0033 a0029c0055t0001 a0034c0063t0007	a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0002g0093 others(51): Show a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0002g0093 a0001c0001t0003g0030 a0001c0001t0003g0090 a0001c0001t0007g0070 a0001c0001t0008g0146 a0001c0001t0012g0198 a0001c0001t0073g0077 a0001c0001t0074g0089 a0001c0003t0005g0197 a0001c0003t0008g0149 a0001c0003t0021g0079 a0001c0003t0022g0065 a0001c0003t0137g0207 a0001c0016t0001g0091 a0001c0016t0001g0094 a0002c0002t0001g0129 a0002c0002t0002g0161 a0002c0002t0003g0262 a0002c0002t0004g0131 a0002c0002t0007g0196 a0002c0002t0009g0112 a0002c0002t0053g0172 a0002c0002t0079g0173 a0002c0002t0126g0217 a0002c0002t0133g0145 a0002c0002t0140g0095 a0002c0008t0051g0160 a0002c0008t0068g0141 a0003c0006t0010g0051 a0003c0006t0010g0096 a0003c0006t0024g0150 a0003c0006t0105g0144 a0003c0006t0128g0058 a0003c0007t0006g0080 a0003c0007t0029g0059 a0003c0007t0032g0017 a0003c0007t0097g0064 a0003c0007t0106g0153 a0004c0004t0001g0168 a0004c0004t0004g0179 a0004c0004t0024g0152 a0004c0004t0066g0213 a0004c0004t0084g0151 a0005c0070t0005g0110 a0006c0009t0117g0174 a0006c0028t0016g0060 a0011c0013t0007g0078 a0011c0013t0035g0041 a0015c0020t0039g0002 a0022c0050t0033g0147 a0029c0055t0001g0187 a0034c0063t0007g0208	54	272	0.1985	-41	c.22- others(58): Show c.22-13649_22-13609delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTTCTC	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	1/40			chr5	TogoVar
MYO3B_chr2_170173147_170660167	170437216	TGATTCAC others(34): Show TGATTCACTGGGGGTGGCCAGGTTTCTCCTTACGTGCAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02886.hp1 others(4): Show HG02615.hp1 HG02809.hp1 HG02886.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03579.hp1	a0001 a0018 a0001 a0018	a0001c0004 a0001c0007 a0001c0014 others(2): Show a0001c0004 a0001c0007 a0001c0014 a0001c0067 a0018c0031	a0001c0004t0002 a0001c0007t0003 a0001c0007t0007 others(4): Show a0001c0004t0002 a0001c0007t0003 a0001c0007t0007 a0001c0014t0002 a0001c0014t0018 a0001c0067t0004 a0018c0031t0008	a0001c0004t0002g0149 a0001c0007t0003g0124 a0001c0007t0007g0133 others(4): Show a0001c0004t0002g0149 a0001c0007t0003g0124 a0001c0007t0007g0133 a0001c0014t0002g0014 a0001c0014t0018g0001 a0001c0067t0004g0128 a0018c0031t0008g0157	7	174	0.0402	-41	c.265 others(60): Show c.2651-6746_2651-6706delCACTGGGGGTGGCCAGGTTTCTCCTT ACGTGCAGAGAGATT	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO6_chr6_75744239_75924537	75768327	ATTTTATT others(34): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0342 a0001c0001t0123g0342	1	358	0.0028	-41	c.-48 others(60): Show c.-48+18908_-48+18948delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTT	MYO6	ENSG00000196586.17	transcript	ENST00000369977.8	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr6	TogoVar
MYOM2_chr8_2040046_2150456	2061174	GGTTTAGT others(34): Show GGTTTAGTGAGGGAGGGGGTCTCTGTCCCCATCCAGCCTGGT	G G	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0367 a0007c0010t0001g0367	1	403	0.0025	-41	c.653 others(58): Show c.653+1946_653+1986delGGTCTCTGTCCCCATCCAGCCTGGTGTT TAGTGAGGGAGGG	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	6/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
N4BP2_chr4_40051850_40163252	40147486	CGGCCGGG others(34): Show CGGCCGGGCAGAGGCGCCCCCCACCTCCCGGACGGGGCGGCT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0059 a0019c0022t0059	a0019c0022t0059g0255 a0019c0022t0059g0255	1	366	0.0027	-41	c.514 others(60): Show c.5143+2715_5143+2755delGGACGGGGCGGCTGGCCGGGCAGAGG CGCCCCCCACCTCCC	N4BP2	ENSG00000078177.15	transcript	ENST00000261435.11	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAXD_chr13_110610545_110644996	110632815	TTCACAAA others(34): Show TTCACAAACCCTGAGCTAAACACAGGGTGCTGATTGGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG00738.hp2 others(56): Show HG00609.hp1 HG00621.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp2 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG04204.hp2 NA18940.hp2 NA18941.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp1 NA18969.hp2 NA18975.hp1 NA18977.hp1 NA18984.hp1 NA18988.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19070.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0023 a0001c0001t0024 a0001c0010t0006	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 others(26): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0006g0003 a0001c0001t0006g0008 a0001c0001t0006g0033 a0001c0001t0006g0099 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0109 a0001c0001t0023g0003 a0001c0001t0024g0003 a0001c0010t0006g0008	59	392	0.1505	-41	c.442 others(58): Show c.442-1712_442-1672delAACACAGGGTGCTGATTGGTGCACTCAC AAACCCTGAGCTA	NAXD	ENSG00000213995.12	transcript	ENST00000680254.1	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF4_chr1_108217464_108249076	108244915	TATATATA others(34): Show TATATATATATATATATATATATATATATATATACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0050 a0002c0005t0002g0050	1	134	0.0075	-41	c.-10 others(52): Show c.-1093_-1053delTGTGTGTGTATATATATATATATATATATATATA TATATAT	NBPF4	ENSG00000196427.14	transcript	ENST00000415641.8	protein_coding		840		chr1	TogoVar
NCALD_chr8_101681542_101795969	101779238	TAATCCAG others(34): Show TAATCCAGTTGTGATGGAAAGAAATTCTAGTAGAAGAGCTTA	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	300	0.0033	-41	c.-20 others(60): Show c.-20+11583_-20+11623delTAAGCTCTTCTACTAGAATTTCTTTC CATCACAACTGGATT	NCALD	ENSG00000104490.18	transcript	ENST00000220931.11	protein_coding	1/3			chr8	TogoVar
NCAPD3_chr11_134145113_134228967	134188220	CACCAATC others(34): Show CACCAATCAGCACTCCGTGTCTAGCTAAAGGATTGTAAATGT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02922.hp1 others(1): Show HG01109.hp1 HG02055.hp1 HG02922.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0293 others(1): Show a0001c0001t0007g0291 a0001c0001t0007g0292 a0001c0001t0007g0293 a0001c0001t0007g0301	4	370	0.0108	-41	c.204 others(60): Show c.2046-2735_2046-2695delACATTTACAATCCTTTAGCTAGACAC GGAGTGCTGATTGGT	NCAPD3	ENSG00000151503.14	transcript	ENST00000534548.7	protein_coding	16/34			chr11	TogoVar
NCAPH2_chr22_50503224_50529780	50504233	CCCCCCGG others(34): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	384	0.0026	-41	c.-41 others(52): Show c.-4104_-4064delCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACA	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3990		chr22	TogoVar
NCK1_chr3_136857208_136956606	136867046	GCTTTTCT others(34): Show GCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	232	0.0043	-41	c.-19 others(58): Show c.-19+4698_-19+4738delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCKAP5_chr2_132666788_133573463	133526234	AAGGAGGG others(34): Show AAGGAGGGAGGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0052 a0017c0016t0001g0052	1	70	0.0143	-41	c.-61 others(58): Show c.-61-8688_-61-8648delCTCCCTCCCTCCTTCCCTCCCTCCCTCC TTCCCTCCCTCCT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	2/19			chr2	TogoVar
NCOA6_chr20_34709774_34830651	34817171	ATGGGTAC others(34): Show ATGGGTACTACGGAACTGATATTCAACAGATTCAATATCAGT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18612.hp1 NA18998.hp1 HG01258.hp1 NA18612.hp1 NA18998.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0106 a0001c0001t0001g0117 a0011c0017t0001g0157 a0001c0001t0001g0106 a0001c0001t0001g0117 a0011c0017t0001g0157	3	290	0.0103	-41	c.-16 others(60): Show c.-164+8260_-164+8300delACTGATATTGAATCTGTTGAATATCA GTTCCGTAGTACCCA	NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14			chr20	TogoVar
NCSTN_chr1_160338383_160363949	160356793	TTTCCCTT others(34): Show TTTCCCTTGGGAAAGTTGGAGGTTCTTCTAGACCTAGTTAGA	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	448	0.0022	-41	c.179 others(56): Show c.1794+40_1794+80delTTCCCTTGGGAAAGTTGGAGGTTCTTCTAG ACCTAGTTAGA	NCSTN	ENSG00000162736.18	transcript	ENST00000294785.10	protein_coding	15/16			chr1	TogoVar
NDUFB7_chr19_14561078_14577066	14572804	ATACAGTT others(34): Show ATACAGTTATTATTATATTATTATTTTTTGAGATAGGGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	402	0.0025	-41	c.-84 others(50): Show c.-845_-805delGAGACCCTATCTCAAAAAATAATAATATAATAATAA CTGTA	NDUFB7	ENSG00000099795.7	transcript	ENST00000215565.3	protein_coding		739		chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58170499	GCCTCATC others(34): Show GCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0103 a0001c0001t0027g0103	1	118	0.0085	-41	c.122 others(58): Show c.122+4679_122+4719delACCTCATCACCCCAGCCCAAGAGGACAG AACACTGCTGCCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58170643	AGGACAGA others(34): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0114 a0001c0001t0012g0114	1	118	0.0085	-41	c.122 others(58): Show c.122+4864_122+4904delGGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171012	AGGACAGA others(34): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02922.hp2 others(5): Show HG02622.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0019 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031	a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0003g0064 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0107 a0001c0001t0003g0064 a0001c0001t0012g0114 a0001c0001t0019g0036 a0001c0001t0027g0103 a0001c0001t0030g0055 a0001c0001t0031g0082	8	118	0.0678	-41	c.122 others(58): Show c.122+5192_122+5232delGGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171053	GGGACAGA others(34): Show GGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0087 a0001c0001t0018g0087	1	118	0.0085	-41	c.122 others(58): Show c.122+5356_122+5396delAGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171217	AGGACAGA others(34): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp1 HG03579.hp2 others(1): Show HG02647.hp2 HG03486.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0107 a0001c0001t0012g0114 a0001c0001t0014g0108 others(1): Show a0001c0001t0001g0107 a0001c0001t0012g0114 a0001c0001t0014g0108 a0001c0001t0019g0036	4	118	0.0339	-41	c.122 others(58): Show c.122+5397_122+5437delGGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEDD4L_chr18_58039226_58406539	58171347	AACACTGC others(34): Show AACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02559.hp1 others(10): Show HG01884.hp1 HG02109.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02895.hp2 HG02922.hp2 HG03486.hp1 HG03579.hp2 NA18612.hp1 NA18962.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0049	a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0002g0044 others(10): Show a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0002g0044 a0001c0001t0003g0011 a0001c0001t0007g0093 a0001c0001t0012g0114 a0001c0001t0014g0108 a0001c0001t0015g0001 a0001c0001t0016g0018 a0001c0001t0019g0036 a0001c0001t0023g0118 a0001c0001t0027g0103 a0001c0001t0049g0008	13	118	0.1102	-41	c.122 others(58): Show c.122+5520_122+5560delGGGACAGGACACTGCTGCCCGCCTCATC ACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NELL1_chr11_20664586_21580686	20724022	GGTGCCAT others(34): Show GGTGCCATGTCCTGAGGCTGCACCGAGAAGCTGGAAGGCAGT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(39): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG01169.hp1 HG01258.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03486.hp1 HG03540.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA18964.hp1 NA18964.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0001c0004 a0001c0005 others(10): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0002c0002 a0002c0003 a0002c0009 a0002c0010 a0004c0013 a0005c0012 a0006c0023 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0006t0001 a0001c0006t0003 a0001c0011t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0006 a0002c0009t0001 a0002c0010t0003 a0004c0013t0001 a0005c0012t0001 a0006c0023t0001 a0008c0021t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0002g0001 others(39): Show a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0002g0001 a0001c0001t0008g0056 a0001c0004t0001g0038 a0001c0004t0001g0046 a0001c0004t0001g0062 a0001c0004t0001g0085 a0001c0004t0001g0087 a0001c0005t0001g0030 a0001c0005t0002g0026 a0001c0005t0004g0055 a0001c0006t0001g0011 a0001c0006t0003g0020 a0001c0011t0001g0035 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0029 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0059 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0003t0001g0009 a0002c0003t0001g0016 a0002c0003t0001g0034 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0086 a0002c0003t0006g0066 a0002c0009t0001g0063 a0002c0009t0001g0069 a0002c0010t0003g0081 a0004c0013t0001g0005 a0005c0012t0001g0057 a0006c0023t0001g0058 a0008c0021t0001g0077	42	88	0.4773	-41	c.184 others(60): Show c.184+45985_184+46025delCGAGAAGCTGGAAGGCAGTGTGCCAT GTCCTGAGGCTGCAC	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20976132	CACATGTA others(34): Show CACATGTACACACATGTATATATATACACACATTATATCTGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp2 HG01884.hp2 others(11): Show HG00642.hp2 HG01169.hp2 HG01884.hp2 HG02258.hp2 HG02630.hp1 HG02976.hp2 HG03225.hp1 HG03471.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18964.hp2 NA18993.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0004 a0001c0005 others(8): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0002c0002 a0003c0015 a0003c0020 a0004c0013 a0005c0012 a0006c0023 a0009c0018	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(8): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0007 a0002c0002t0001 a0003c0015t0001 a0003c0020t0001 a0004c0013t0001 a0005c0012t0001 a0006c0023t0001 a0009c0018t0001	a0001c0001t0001g0022 a0001c0004t0001g0049 a0001c0004t0001g0080 others(11): Show a0001c0001t0001g0022 a0001c0004t0001g0049 a0001c0004t0001g0080 a0001c0005t0001g0013 a0001c0006t0007g0014 a0002c0002t0001g0010 a0002c0002t0001g0018 a0002c0002t0001g0074 a0003c0015t0001g0008 a0003c0020t0001g0075 a0004c0013t0001g0005 a0005c0012t0001g0057 a0006c0023t0001g0058 a0009c0018t0001g0045	14	88	0.1591	-41	c.130 others(62): Show c.1300+15577_1300+15617delGTACACACATGTATATATATACAC ACATTATATCTGTACAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	21309271	TATATATA others(34): Show TATATATATGTATATATATATATATATATGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03041.hp1 HG03471.hp2 HG02257.hp2 HG03041.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0001c0005t0004 a0002c0003t0004 a0001c0005t0001 a0001c0005t0004 a0002c0003t0004	a0001c0005t0001g0015 a0001c0005t0004g0055 a0002c0003t0004g0044 a0001c0005t0001g0015 a0001c0005t0004g0055 a0002c0003t0004g0044	3	88	0.0341	-41	c.155 others(62): Show c.1550-61573_1550-61533delGTATATATATATATATATATGTAT ATATATATAATATATAT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	14/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEU1_chr6_31852659_31867821	31854546	CGGAGAGG others(34): Show CGGAGAGGCTCCTCACTTCTCAGACGGGGCAGTTGCCGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	419	0.0024	-41	c.51 others(52): Show c.5132_*5172delCGCCCGGCAACTGCCCCGTCTGAGAAGTGAGGAG CCTCTCC	NEU1	ENSG00000204386.12	transcript	ENST00000375631.5	protein_coding		3112		chr6	TogoVar
NFATC1_chr18_79390930_79534323	79420236	TGACGTCG others(34): Show TGACGTCGCTGCAGAGAGGAAGAGGGGGACACGTTTCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0057 a0001c0006t0004g0057	1	322	0.0031	-41	c.122 others(60): Show c.1226+8765_1226+8805delACGTTTCCAGGCGACGTCGCTGCAGA GAGGAAGAGGGGGAC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79420754	GACGCGTT others(34): Show GACGCGTTTCCAGGCGATGTCGTTGCAGAGGGCAAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	322	0.0031	-41	c.122 others(60): Show c.1226+9267_1226+9307delCGATGTCGTTGCAGAGGGCAAGAGGG GAACGCGTTTCCAGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79420854	ATTGCTGC others(34): Show ATTGCTGCAGAGAGGAAGAGGAAGATGCTTTTCCAGGCGACG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01978.hp2 HG02300.hp1 HG00738.hp2 HG01978.hp2 HG02300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0026 a0001c0001 a0002c0003 a0002c0026	a0001c0001t0001 a0002c0003t0001 a0002c0026t0001 a0001c0001t0001 a0002c0003t0001 a0002c0026t0001	a0001c0001t0001g0218 a0002c0003t0001g0241 a0002c0026t0001g0239 a0001c0001t0001g0218 a0002c0003t0001g0241 a0002c0026t0001g0239	3	322	0.0093	-41	c.122 others(60): Show c.1226+9374_1226+9414delAAGATGCTTTTCCAGGCGACGTTGCT GCAGAGAGGAAGAGG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79484495	TACTCAGT others(34): Show TACTCAGTGTGCAGGGCGGACGCTTTAAACCTCGATCTCCCC	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0300 a0001c0004t0002g0301 a0001c0004t0002g0300 a0001c0004t0002g0301	2	322	0.0062	-41	c.209 others(60): Show c.2093-1715_2093-1675delCCCCACTCAGTGTGCAGGGCGGACGC TTTAAACCTCGATCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFIC_chr19_3361583_3474217	3381536	TTGCGTGC others(34): Show TTGCGTGCCTCCGGCGGCGTGCACGGGTCCGCAGCGACCCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03471.hp2 HG01109.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0194 a0001c0001t0006 a0001c0001t0194	a0001c0001t0006g0228 a0001c0001t0194g0227 a0001c0001t0006g0228 a0001c0001t0194g0227	2	300	0.0067	-41	c.31- others(54): Show c.31-172_31-132delGTGCCTCCGGCGGCGTGCACGGGTCCGCAGCG ACCCCCTGC	NFIC	ENSG00000141905.19	transcript	ENST00000443272.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGB_chr14_77260483_77276206	77269686	CTCTCTCT others(34): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01346.hp1 HG02135.hp2 others(6): Show HG00323.hp2 HG01346.hp1 HG02135.hp2 HG02523.hp2 NA18946.hp2 NA18969.hp1 NA18981.hp2 NA19055.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0181 others(3): Show a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0181 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0231	9	366	0.0246	-41	c.90- others(54): Show c.90-401_90-361delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGA	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGB_chr14_77260483_77276206	77269762	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	366	0.0027	-41	c.90- others(54): Show c.90-477_90-437delGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGA GAGAGAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NGLY1_chr3_25713944_25788443	25760860	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03688.hp1 HG03704.hp2 HG01169.hp1 HG03688.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0001 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0198 a0001c0001t0004g0090 a0001c0001t0007g0167 a0001c0001t0001g0198 a0001c0001t0004g0090 a0001c0001t0007g0167	3	264	0.0114	-41	c.492 others(58): Show c.492+3165_492+3205delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	NGLY1	ENSG00000151092.18	transcript	ENST00000280700.10	protein_coding	3/11			chr3	TogoVar
NKD2_chr5_1003802_1043943	1022149	CTGTCCCT others(34): Show CTGTCCCTGCTCTTCCCACCTGCTGTGGGTGTCCCAACCCAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	319	0.0031	-41	c.142 others(58): Show c.142-9983_142-9943delTGCTGTGGGTGTCCCAACCCATTGTCCC TGCTCTTCCCACC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022346	TCAGCCCA others(34): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCC	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	319	0.0031	-41	c.142 others(58): Show c.142-9799_142-9759delATTGTCCCTGCTCTTCCCACCCGCTGTG GGTGTCCCAGCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022353	ATTGTCCC others(34): Show ATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp2 others(72): Show HG00140.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18942.hp2 NA18945.hp2 NA18952.hp2 NA18960.hp1 NA18967.hp1 NA18972.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18992.hp2 NA18995.hp1 NA18997.hp1 NA19009.hp1 NA19066.hp1 NA19067.hp2 NA19088.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0016 a0001c0017 others(2): Show a0001c0001 a0001c0016 a0001c0017 a0005c0009 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0002 a0001c0017t0002 a0005c0009t0002 a0007c0014t0018	a0001c0001t0001g0047 a0001c0001t0001g0168 a0001c0001t0001g0177 others(63): Show a0001c0001t0001g0047 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0103 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0264 a0001c0016t0002g0182 a0001c0017t0002g0016 a0005c0009t0002g0249 a0007c0014t0018g0104	75	319	0.2351	-41	c.142 others(58): Show c.142-9769_142-9729delTGTCCCAGCCCGTTGTCCCTGCTCTTCC CACCCGCTGTGGG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022873	AGTGGGTG others(34): Show AGTGGGTGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03453.hp1 HG03471.hp1 others(1): Show HG02809.hp2 HG03453.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0011 a0001c0001t0003 a0001c0005t0011	a0001c0001t0003g0002 a0001c0005t0011g0002 a0001c0001t0003g0002 a0001c0005t0011g0002	4	319	0.0125	-41	c.142 others(58): Show c.142-9262_142-9222delTTTGTCCCTGCTCTTCCCACCCTCTGTG GGTGTCCCAGCCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1022911	CTCTGTGG others(34): Show CTCTGTGGGTGTCCCAGCCCGTTGTCCCTGCTCTTCCCACCT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0017 a0009c0013t0017	a0009c0013t0017g0098 a0009c0013t0017g0098	1	319	0.0031	-41	c.142 others(58): Show c.142-9240_142-9200delTCTGTGGGTGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCT	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9			chr5	TogoVar
NKD2_chr5_1003802_1043943	1023158	GCTGTGGG others(34): Show GCTGTGGGCATCCCAGCCCATTGTCCCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03225.hp2 HG01358.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0011 a0001c0001t0002 a0001c0005t0011	a0001c0001t0002g0029 a0001c0005t0011g0114 a0001c0001t0002g0029 a0001c0005t0011g0114	2	319	0.0063	-41	c.142 others(58): Show c.142-8985_142-8945delATCCCAGCCCATTGTCCCTGCTCTTCCC ACCCTCTGTGGGC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023470	CCTGCTCT others(34): Show CCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01496.hp2 others(7): Show HG00639.hp1 HG00741.hp1 HG01496.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02897.hp1 HG03654.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 others(5): Show a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0110 a0001c0002t0003g0262	10	319	0.0314	-41	c.142 others(58): Show c.142-8666_142-8626delGCTGTGGGCGTCTCAGCCCGTTGTCTCT GCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023486	GCTGTGGG others(34): Show GCTGTGGGCGTCTCAGCCCGTTGTCTCTGCTCTTCCCACCCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp2 HG02132.hp1 others(5): Show HG00408.hp1 HG01168.hp2 HG02132.hp1 HG02258.hp2 NA18965.hp2 NA18984.hp1 NA19054.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0012 a0002c0003 a0001c0001 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0002c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0002g0042 a0001c0012t0001g0012 a0002c0003t0001g0040	8	319	0.0251	-41	c.142 others(58): Show c.142-8641_142-8601delTCTGCTCTTCCCACCCTCTGTGGGCGTC TCAGCCCGTTGTC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023673	TCCCTGCT others(34): Show TCCCTGCTCTTCCCACCCTCTGTGGGCGTCTCAGCCCATTGC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	319	0.0031	-41	c.142 others(58): Show c.142-8438_142-8398delCCCCTGCTCTTCCCACCCTCTGTGGGCG TCTCAGCCCATTG	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKD2_chr5_1003802_1043943	1023855	GCTGTGGG others(34): Show GCTGTGGGCGTCCCAGCCCATTGTCCCTGCTCTTCCCACTCT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	319	0.0031	-41	c.142 others(58): Show c.142-8217_142-8177delTCTCTGTGGGCGTCCCAGCCCATTGTCC CTGCTCTTCCCAC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar

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