Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NRXN3_chr14_78165373_79873291	79508390	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0017 a0001c0001t0008 a0001c0006t0017	a0001c0001t0008g0008 a0001c0006t0017g0001 a0001c0001t0008g0008 a0001c0006t0017g0001	2	24	0.0833	15	c.344 others(36): Show c.3444+40990_3444+41004dupTTTTTTTTTTTTTTT		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79560504	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0004 a0001c0001t0014g0004	1	24	0.0417	15	c.344 others(36): Show c.3444+93112_3444+93126dupTTTTTTTTTTTTTTT		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79617930	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0009 a0001c0002t0007g0009	1	24	0.0417	15	c.344 others(36): Show c.3445-45846_3445-45845insAAAAAAAAAAAAGAA		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NSA2_chr5_74762249_74785113	74784510	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02723.hp1 HG03130.hp2 others(3): Show HG02293.hp2 HG02723.hp1 HG03130.hp2 HG03579.hp1 NA18982.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0021 a0001c0002t0003g0099 a0001c0002t0006g0008 others(2): Show a0001c0002t0003g0021 a0001c0002t0003g0099 a0001c0002t0006g0008 a0001c0002t0006g0019 a0001c0002t0006g0048	6	402	0.0149	15	c.78 others(26): Show c.7839_*7840insAAAAAAAAAAAAAAA		NSA2	ENSG00000164346.10	transcript	ENST00000610426.5	protein_coding					4398		chr5	TogoVar
NSD1_chr5_177128773_177305213	177158292	T T	TTCTTTCT others(8): Show TTCTTTCTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	298	0.0034	15	c.927 others(34): Show c.927+22262_927+22263insTCTTTCTTTTCTTTC		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22						chr5	TogoVar
NSD1_chr5_177128773_177305213	177158821	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0009 a0003c0006t0009	a0003c0006t0009g0163 a0003c0006t0009g0163	1	298	0.0034	15	c.927 others(34): Show c.927+22805_927+22806insAAAAAAAAAAAAAAA		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177199579	A A	ATTTTCTT others(8): Show ATTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02015.hp1 HG02615.hp2 others(2): Show HG00733.hp1 HG02015.hp1 HG02615.hp2 HG02622.hp2 NA18975.hp2	a0003 a0003	a0003c0006 a0003c0031 a0003c0006 a0003c0031	a0003c0006t0009 a0003c0031t0009 a0003c0006t0009 a0003c0031t0009	a0003c0006t0009g0160 a0003c0006t0009g0163 a0003c0006t0009g0165 others(2): Show a0003c0006t0009g0160 a0003c0006t0009g0163 a0003c0006t0009g0165 a0003c0006t0009g0166 a0003c0031t0009g0154	5	298	0.0168	15	c.106 others(34): Show c.1064-4521_1064-4507dupCTTTTCTTTTCTTTT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177264028	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02451.hp1 HG02965.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0013 a0001c0003 a0004c0013	a0001c0003t0049 a0004c0013t0001 a0001c0003t0049 a0004c0013t0001	a0001c0003t0049g0111 a0004c0013t0001g0105 a0001c0003t0049g0111 a0004c0013t0001g0105	2	298	0.0067	15	c.514 others(34): Show c.5147-3522_5147-3508dupTTTTTTTTTTTTTTT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	14/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177270154	A A	AGTCTTGT others(8): Show AGTCTTGTCTTGTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03654.hp2 HG06807.hp1 HG02451.hp1 HG03654.hp2 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0013 a0004c0026 a0001c0011 a0004c0013 a0004c0026	a0001c0011t0002 a0004c0013t0001 a0004c0026t0003 a0001c0011t0002 a0004c0013t0001 a0004c0026t0003	a0001c0011t0002g0228 a0004c0013t0001g0105 a0004c0026t0003g0104 a0001c0011t0002g0228 a0004c0013t0001g0105 a0004c0026t0003g0104	3	298	0.0101	15	c.550 others(32): Show c.5509+369_5509+383dupTCTTGTCTTGTCTTG		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177279961	A A	ATATTTTA others(8): Show ATATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03471.hp2 HG03130.hp1 HG03471.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0025 a0001c0003 a0010c0025	a0001c0003t0002 a0010c0025t0028 a0001c0003t0002 a0010c0025t0028	a0001c0003t0002g0130 a0010c0025t0028g0115 a0001c0003t0002g0130 a0010c0025t0028g0115	2	298	0.0067	15	c.562 others(32): Show c.5623-562_5623-548dupATTTTATTTTATTTT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD2_chr4_1866393_1987192	1878252	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03579.hp2 HG01975.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0083 a0001c0001t0001g0022 a0001c0001t0001g0083	2	130	0.0154	15	c.-30 others(32): Show c.-30+6710_-30+6711insATATATATATATATA		NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21						chr4	TogoVar
NSD2_chr4_1866393_1987192	1934866	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	130	0.0077	15	c.155 others(32): Show c.1556-278_1556-277insTATATATATATATAT		NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	6/21						chr4	TogoVar
NSD2_chr4_1866393_1987192	1934870	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	130	0.0077	15	c.155 others(32): Show c.1556-274_1556-273insTATATATATATATAT		NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	6/21						chr4	TogoVar
NSD3_chr8_38264704_38387271	38364277	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	226	0.0044	15	c.-44 others(34): Show c.-44-16077_-44-16063dupGTTGTTGTTGTTGTT		NSD3	ENSG00000147548.17	transcript	ENST00000317025.13	protein_coding	1/23						chr8	TogoVar
NSFL1C_chr20_1437166_1471849	1466918	C C	CGATGAGG others(8): Show CGATGAGGGCCCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01255.hp2 HG02015.hp2 others(9): Show HG00639.hp1 HG01255.hp2 HG02015.hp2 HG03704.hp2 HG04115.hp2 NA18952.hp2 NA18954.hp2 NA18963.hp1 NA18968.hp1 NA18970.hp2 NA18991.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0087 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093	12	372	0.0323	15	c.-10 others(23): Show c.-109_-95dupTGCTGGGCCCTCATC		NSFL1C	ENSG00000088833.18	transcript	ENST00000216879.9	protein_coding					70		chr20	TogoVar
NSG1_chr4_4382102_4424058	4385393	G G	GGGGGGGG others(8): Show GGGGGGGGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	394	0.0025	15	c.-18 others(26): Show c.-1807_-1806insGGGGGGGGGGGGGGC		NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding					1708		chr4	TogoVar
NSG1_chr4_4382102_4424058	4411743	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 NA18991.hp2 HG00408.hp1 HG00408.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0157 a0001c0001t0001g0266 a0001c0001t0001g0092 a0001c0001t0001g0157 a0001c0001t0001g0266	3	394	0.0076	15	c.357 others(32): Show c.357+2097_357+2111dupAAACAAAACAAAACA		NSG1	ENSG00000168824.15	transcript	ENST00000621129.5	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
NSL1_chr1_212721153_212796777	212754769	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG03540.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG03540.hp1 HG06807.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0066 a0002c0002t0099 others(1): Show a0002c0002t0038 a0002c0002t0066 a0002c0002t0099 a0002c0002t0100	a0002c0002t0038g0174 a0002c0002t0038g0175 a0002c0002t0066g0017 others(2): Show a0002c0002t0038g0174 a0002c0002t0038g0175 a0002c0002t0066g0017 a0002c0002t0099g0177 a0002c0002t0100g0176	5	364	0.0137	15	c.500 others(34): Show c.500-15183_500-15169dupTTTTTTTTTTTTTTT		NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5						chr1	TogoVar
NSL1_chr1_212721153_212796777	212792632	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02602.hp1 HG02647.hp1 others(6): Show HG00621.hp1 HG02602.hp1 HG02647.hp1 HG03654.hp2 HG04115.hp1 HG04199.hp2 NA18963.hp2 NA19009.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0015 a0003c0003t0020 others(3): Show a0003c0003t0004 a0003c0003t0015 a0003c0003t0020 a0003c0003t0028 a0003c0003t0052 a0003c0003t0056	a0003c0003t0004g0319 a0003c0003t0004g0327 a0003c0003t0004g0339 others(6): Show a0003c0003t0004g0319 a0003c0003t0004g0327 a0003c0003t0004g0339 a0003c0003t0015g0320 a0003c0003t0015g0323 a0003c0003t0020g0331 a0003c0003t0028g0346 a0003c0003t0052g0299 a0003c0003t0056g0330	9	364	0.0247	15	c.-88 others(24): Show c.-884_-870dupTTTTTTTTTTTTTTT		NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding					856		chr1	TogoVar
NSL1_chr1_212721153_212796777	212793740	G G	GGGAGGAG others(8): Show GGGAGGAGTCAAGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0155 a0001c0001t0017g0155	1	364	0.0028	15	c.-19 others(26): Show c.-1992_-1978dupATCCTTGACTCCTCC		NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding					1964		chr1	TogoVar
NSMAF_chr8_58578508_58664853	58585317	G G	GTTATTTT others(8): Show GTTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02717.hp1 others(7): Show HG02145.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0138 a0001c0003t0001g0010 a0001c0003t0001g0105 others(6): Show a0001c0001t0001g0138 a0001c0003t0001g0010 a0001c0003t0001g0105 a0001c0003t0001g0108 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0113 a0001c0003t0001g0117 a0001c0003t0001g0193	10	368	0.0272	15	c.265 others(32): Show c.2659+334_2659+335insAAAAAAAAAAAATAA		NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	30/30						chr8	TogoVar
NSMCE1_chr16_27219994_27273772	27251189	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	334	0.0030	15	c.136 others(32): Show c.136+6245_136+6246insTATATATATATATAT		NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7						chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27251208	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	334	0.0030	15	c.136 others(32): Show c.136+6226_136+6227insATATATATATATATA		NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7						chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125170376	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18943.hp1 HG02080.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0159 a0001c0001t0001g0139 a0001c0001t0001g0159	2	244	0.0082	15	c.265 others(34): Show c.265-11702_265-11688dupTTTTTTTTTTTTTTT		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125213485	G G	GTCTCCTC others(8): Show GTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18522.hp1 NA18989.hp2 others(1): Show HG00544.hp1 NA18522.hp1 NA18989.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0049	4	244	0.0164	15	c.418 others(34): Show c.418+31270_418+31284dupTCTCCTCTCCTCTCC		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125262096	C C	CAAAATAA others(8): Show CAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03209.hp2 HG03654.hp1 others(4): Show HG02015.hp1 HG03209.hp2 HG03654.hp1 HG03942.hp2 HG04228.hp1 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0201 a0001c0001t0001g0223 a0001c0001t0003g0019	7	244	0.0287	15	c.418 others(34): Show c.418+79857_418+79871dupAAATAAAATAAAATA		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125274999	G G	GATAATAA others(8): Show GATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	244	0.0041	15	c.419 others(34): Show c.419-82197_419-82183dupTAATAATAATAATAA		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125333505	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01257.hp1 HG01934.hp2 others(5): Show HG00642.hp2 HG01257.hp1 HG01934.hp2 HG02004.hp1 HG02293.hp2 NA18951.hp2 NA18955.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0203 others(5): Show a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0216 a0001c0001t0001g0220	8	244	0.0328	15	c.419 others(34): Show c.419-23701_419-23687dupTTTTTTTTTTTTTTT		NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE3_chr15_29259989_29274822	29264154	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02055.hp2 others(23): Show HG01361.hp2 HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA19030.hp2 NA19043.hp2 NA19062.hp1 NA19062.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0045 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0045 a0001c0001t0046 a0001c0001t0057 a0002c0002t0005 a0002c0002t0006 a0002c0002t0053 a0003c0003t0025 a0005c0006t0028	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0045g0000 others(7): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0045g0000 a0001c0001t0046g0000 a0001c0001t0057g0000 a0002c0002t0005g0000 a0002c0002t0006g0000 a0002c0002t0053g0000 a0003c0003t0025g0000 a0005c0006t0028g0000	26	415	0.0627	15	c.46 others(26): Show c.4636_*4637insTTTTTTTTTTTTTTT		NSMCE3	ENSG00000185115.6	transcript	ENST00000332303.6	protein_coding					834		chr15	TogoVar
NSMCE4A_chr10_121952091_121980217	121958825	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01993.hp1 others(8): Show HG01074.hp2 HG01175.hp2 HG01993.hp1 HG03831.hp1 HG04204.hp2 HG04228.hp1 NA18939.hp2 NA18953.hp1 NA18954.hp1 NA18998.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0068 a0001c0001t0001g0099 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0068 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0109	11	434	0.0254	15	c.12 others(30): Show c.12+498_*12+499insAAAAAAAAAAAAAAA		NSMCE4A	ENSG00000107672.15	transcript	ENST00000369023.8	protein_coding	10/10						chr10	TogoVar
NSRP1_chr17_30111816_30191475	30122386	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	282	0.0036	15	c.114 others(32): Show c.114+4213_114+4214insATATATATATATATA		NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6						chr17	TogoVar
NSRP1_chr17_30111816_30191475	30171972	A A	ACACTCCT others(8): Show ACACTCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	282	0.0036	15	c.115 others(30): Show c.115-569_115-568insACTCCTCTCTCTCTC		NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NSUN2_chr5_6594239_6638044	6611448	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00741.hp2 others(16): Show HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp2 HG03017.hp1 HG03225.hp2 HG03579.hp1 HG03710.hp2 NA18982.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0010t0001 a0001c0010t0002	a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0146 others(14): Show a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0056 a0001c0003t0001g0069 a0001c0003t0001g0099 a0001c0003t0001g0102 a0001c0003t0001g0104 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0002g0100 a0001c0010t0001g0058 a0001c0010t0002g0105	19	438	0.0434	15	c.109 others(32): Show c.1095+262_1095+276dupTTTTTTTTTTTTTTT		NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	10/18						chr5	TogoVar
NSUN2_chr5_6594239_6638044	6622175	G G	GATGGGGT others(8): Show GATGGGGTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0160 a0001c0004t0001g0160	1	438	0.0023	15	c.538 others(28): Show c.538-76_538-75insAACAAACAACCCCAT		NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	5/18						chr5	TogoVar
NSUN6_chr10_18540561_18656587	18555653	A A	AGAATGGA others(8): Show AGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	346	0.0029	15	c.923 others(32): Show c.923-3697_923-3683dupCATTCCATTCCATTC		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10						chr10	TogoVar
NSUN6_chr10_18540561_18656587	18555906	A A	AGAATGGA others(8): Show AGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG02015.hp2 others(35): Show HG00423.hp1 HG00642.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02165.hp1 HG02630.hp2 HG02735.hp1 HG03669.hp1 NA18939.hp1 NA18944.hp2 NA18952.hp1 NA18963.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19057.hp1 NA19064.hp1 NA19068.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0008	a0001c0001 a0005c0008 a0006c0007 others(1): Show a0001c0001 a0005c0008 a0006c0007 a0008c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0005c0008t0006 a0006c0007t0001 a0008c0005t0010	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 others(35): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0008g0071 a0001c0001t0008g0132 a0001c0001t0018g0123 a0005c0008t0006g0323 a0006c0007t0001g0089 a0008c0005t0010g0081	38	346	0.1098	15	c.923 others(32): Show c.923-3950_923-3936dupCATTCCATTCCATTC		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10						chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19010.hp2 HG02129.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0111 a0001c0001t0001g0048 a0001c0001t0001g0111	2	346	0.0058	15	c.658 others(32): Show c.658-4615_658-4614insATATATATATATTTT		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10						chr10	TogoVar
NSUN7_chr4_40744955_40816184	40808418	A A	AAATCAGT others(8): Show AAATCAGTGCGAGTAT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03130.hp1 HG03130.hp1	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0011 a0013c0012t0001g0011	1	392	0.0026	15	c.163 others(24): Show c.1638_1639insTCAGTGCGAGTATAA	p.Lys others(28): Show p.Lys546_Lys547insSerValArgValTer	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	12/12	2076/4839	1639/2157	547/718		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSUN7_chr4_40744955_40816184	40811522	A A	AGCCTAGG others(8): Show AGCCTAGGCGACAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0062 a0008c0008t0001g0062	1	392	0.0026	15	c.25 others(26): Show c.2583_*2584insGCCTAGGCGACAGAG		NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding					339		chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39660403	G G	GCTCTAGG others(8): Show GCTCTAGGGTATATTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0241 a0001c0001t0118g0241	1	326	0.0031	15	c.741 others(30): Show c.741+661_741+675dupGAATATACCCTAGAG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	5/5						chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39662775	C C	CTCGAAAG others(8): Show CTCGAAAGACACACAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0079 a0001c0001t0013g0079	1	326	0.0031	15	c.556 others(30): Show c.556+522_556+536dupATGTGTGTCTTTCGA		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	4/5						chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664434	C C	CCGTGCCT others(8): Show CCGTGCCTGGCCAGGT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0112 a0001c0002t0014g0112	1	326	0.0031	15	c.434 others(32): Show c.434-1015_434-1001dupACCTGGCCAGGCACG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NT5C2_chr10_103083038_103198272	103087140	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 NA18612.hp1 HG01517.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0004 a0001c0001t0007 a0001c0002t0004	a0001c0001t0007g0138 a0001c0002t0004g0018 a0001c0001t0007g0138 a0001c0002t0004g0018	2	340	0.0059	15	c.25 others(26): Show c.2517_*2531dupAAAAAAAAAAAAAAA		NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding					897		chr10	TogoVar
NT5C3A_chr7_33009130_33067776	33062815	C C	CCGCCCCG others(8): Show CCGCCCCGCGCAGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02738.hp2 HG00741.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0236 a0001c0001t0001g0238	2	400	0.0050	15	c.-11 others(24): Show c.-111_-110insTCGCTGCGCGGGGCG		NT5C3A	ENSG00000122643.23	transcript	ENST00000610140.7	protein_coding					40		chr7	TogoVar
NT5DC1_chr6_116095853_116254497	116107540	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02717.hp1 others(7): Show HG01884.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0030	a0001c0001t0002g0111 a0001c0001t0003g0112 a0001c0001t0009g0107 others(7): Show a0001c0001t0002g0111 a0001c0001t0003g0112 a0001c0001t0009g0107 a0001c0001t0009g0108 a0001c0001t0009g0109 a0001c0001t0009g0110 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0030g0113	10	300	0.0333	15	c.186 others(30): Show c.186-789_186-775dupATTTTATTTTATTTT		NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC3_chr12_103767310_103846234	103840377	G G	GCTCATCT others(8): Show GCTCATCTCATCTCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(44): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01243.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02080.hp2 HG02132.hp1 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG03017.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03654.hp2 HG04199.hp2 NA18942.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19066.hp1 NA19082.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0001t0040 a0001c0002t0001 a0001c0002t0007 a0001c0002t0015 a0001c0002t0024 a0001c0002t0025 a0001c0002t0048 a0001c0002t0049 a0001c0003t0004 a0001c0003t0008 a0001c0003t0070 a0001c0004t0002 a0001c0004t0019 a0001c0004t0033 a0001c0004t0059 a0001c0005t0029 a0001c0005t0077	a0001c0001t0001g0089 a0001c0001t0003g0086 a0001c0001t0006g0060 others(42): Show a0001c0001t0001g0089 a0001c0001t0003g0086 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0012g0005 a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0027g0090 a0001c0001t0040g0088 a0001c0002t0001g0059 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0077 a0001c0002t0001g0092 a0001c0002t0001g0098 a0001c0002t0007g0068 a0001c0002t0007g0069 a0001c0002t0007g0070 a0001c0002t0007g0358 a0001c0002t0015g0073 a0001c0002t0024g0076 a0001c0002t0025g0072 a0001c0002t0048g0063 a0001c0002t0049g0075 a0001c0003t0004g0064 a0001c0003t0004g0065 a0001c0003t0004g0091 a0001c0003t0008g0067 a0001c0003t0008g0356 a0001c0003t0008g0357 a0001c0003t0070g0066 a0001c0004t0002g0006 a0001c0004t0002g0082 a0001c0004t0002g0083 a0001c0004t0002g0084 a0001c0004t0002g0093 a0001c0004t0002g0094 a0001c0004t0002g0095 a0001c0004t0002g0097 a0001c0004t0019g0080 a0001c0004t0033g0081 a0001c0004t0059g0085 a0001c0005t0029g0096 a0001c0005t0077g0087	47	386	0.1218	15	c.208 others(30): Show c.208+557_208+571dupATGAGATGAGATGAG		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13						chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103840421	A A	ATCTCATC others(8): Show ATCTCATCTCATCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0007 a0001c0006t0014 a0001c0002t0007 a0001c0006t0014	a0001c0002t0007g0025 a0001c0006t0014g0023 a0001c0006t0014g0024 a0001c0002t0007g0025 a0001c0006t0014g0023 a0001c0006t0014g0024	3	386	0.0078	15	c.208 others(30): Show c.208+527_208+528insGGAGATGAGATGAGA		NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13						chr12	TogoVar
NT5DC4_chr2_112716020_112744095	112720012	C C	CCTTCCTT others(8): Show CCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03516.hp1 HG03130.hp2 HG03516.hp1	a0004 a0008 a0004 a0008	a0004c0009 a0008c0008 a0004c0009 a0008c0008	a0004c0009t0001 a0008c0008t0001 a0004c0009t0001 a0008c0008t0001	a0004c0009t0001g0133 a0008c0008t0001g0274 a0004c0009t0001g0133 a0008c0008t0001g0274	2	364	0.0055	15	c.-10 others(26): Show c.-1068_-1067insCTTCCTTCCTTCCTT		NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding					1007		chr2	TogoVar
NTAN1_chr16_15032857_15061074	15042749	T T	TTTATTTA others(8): Show TTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	453	0.0022	15	c.434 others(32): Show c.434-1074_434-1073insTAAATAAATAAATAA		NTAN1	ENSG00000157045.9	transcript	ENST00000287706.8	protein_coding	5/9						chr16	TogoVar
NTAN1_chr16_15032857_15061074	15056073	T T	TCGTCCTG others(8): Show TCGTCCTGCCCCGCCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02074.hp1 HG02129.hp2 NA18949.hp2 others(1): Show HG02074.hp1 HG02129.hp2 NA18949.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0012 a0002c0002t0003g0062 a0002c0002t0003g0001 a0002c0002t0003g0012 a0002c0002t0003g0062	4	453	0.0088	15	c.-11 others(24): Show c.-117_-103dupGGGCGGGGCAGGACG		NTAN1	ENSG00000157045.9	transcript	ENST00000287706.8	protein_coding	1/10				103		chr16	TogoVar

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