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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
NSD1_chr5_177128773_177305213	177264028	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	298	0.0034	20	c.514 others(39): Show c.5147-3527_5147-3508dupTTTTTTTTTTTTTTTTTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD2_chr4_1866393_1987192	1872591	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	130	0.0077	20	c.-30 others(37): Show c.-30+1075_-30+1094dupAGAGAGAGAGAGAGAGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSD2_chr4_1866393_1987192	1934876	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	130	0.0077	20	c.155 others(37): Show c.1556-267_1556-266insTATATATATATATATATATA	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG2_chr5_174040706_174114179	174068541	G G	GATGTGGA others(13): Show GATGTGGAAGGTGCTGGTGTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01069.hp1 others(56): Show HG00280.hp1 HG00642.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG02004.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18906.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0002t0002	a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 others(53): Show a0001c0001t0002g0003 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0281 a0001c0001t0003g0276 a0001c0001t0004g0011 a0001c0001t0005g0033 a0001c0001t0005g0259 a0001c0001t0006g0239 a0001c0001t0006g0247 a0001c0001t0006g0251 a0001c0001t0006g0255 a0001c0001t0006g0260 a0001c0001t0008g0010 a0001c0001t0008g0275 a0001c0001t0009g0268 a0001c0001t0009g0269 a0001c0001t0009g0270 a0001c0001t0018g0277 a0001c0001t0024g0272 a0001c0001t0025g0245 a0001c0002t0002g0235	59	294	0.2007	20	c.213 others(37): Show c.213+4230_213+4231insGGAAGGTGCTGGTGTCATGT	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSL1_chr1_212721153_212796777	212754769	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0119 a0002c0002t0025g0119	1	364	0.0028	20	c.500 others(39): Show c.500-15169_500-15168insTTTTTTTTTTTTTTTTTTTT	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding	4/5			chr1	TogoVar
NSL1_chr1_212721153_212796777	212795262	T T	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00741.hp1 NA18993.hp2 others(1): Show HG00738.hp2 HG00741.hp1 NA18993.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0271 a0002c0002t0012g0272 a0002c0002t0012g0273 others(1): Show a0002c0002t0012g0271 a0002c0002t0012g0272 a0002c0002t0012g0273 a0002c0002t0012g0275	4	364	0.0110	20	c.-35 others(31): Show c.-3519_-3500dupTAAATAAATAAATAAATAAA	NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding		3486		chr1	TogoVar
NSMAF_chr8_58578508_58664853	58625394	A A	ATATATAT others(13): Show ATATATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01109.hp1 others(11): Show HG01070.hp2 HG01071.hp1 HG01109.hp1 HG02486.hp1 HG02615.hp1 HG02886.hp1 HG02897.hp2 HG02970.hp2 HG03540.hp1 NA18994.hp2 NA19056.hp1 NA19082.hp1 NA19088.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0009t0001 a0002c0002t0001 a0006c0007t0001 a0006c0007t0003	a0001c0001t0001g0054 a0001c0001t0001g0101 a0001c0001t0001g0115 others(11): Show a0001c0001t0001g0054 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0182 a0001c0001t0001g0213 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0332 a0001c0001t0011g0039 a0001c0009t0001g0251 a0001c0009t0001g0252 a0002c0002t0001g0075 a0006c0007t0001g0103 a0006c0007t0003g0038	14	368	0.0380	20	c.385 others(37): Show c.385-1615_385-1614insCATACATACATACATATATA	NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	6/30			chr8	TogoVar
NSMAF_chr8_58578508_58664853	58625394	A A	ATATGTAT others(13): Show ATATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0044 a0003c0005t0003g0044	1	368	0.0027	20	c.385 others(37): Show c.385-1634_385-1615dupCATACATACATACATACATA	NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	6/30			chr8	TogoVar
NSMAF_chr8_58578508_58664853	58657397	A A	AAGTTTTC others(13): Show AAGTTTTCCAAGAAAAGTAAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02615.hp2 HG02630.hp1 others(7): Show HG01884.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp1 HG03225.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0138 a0001c0001t0008g0036 a0001c0001t0008g0041 others(7): Show a0001c0001t0001g0138 a0001c0001t0008g0036 a0001c0001t0008g0041 a0001c0001t0008g0051 a0001c0001t0012g0042 a0001c0001t0016g0085 a0001c0003t0001g0137 a0001c0004t0001g0135 a0001c0004t0001g0202 a0001c0004t0001g0210	10	368	0.0272	20	c.59+ others(35): Show c.59+2156_59+2175dupGTTACTTTTCTTGGAAAACT	NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	1/30			chr8	TogoVar
NSMCE1_chr16_27219994_27273772	27251159	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18998.hp2 NA19011.hp2 NA18946.hp2 NA18998.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0066 a0002c0002t0001g0100 a0002c0002t0001g0028 a0002c0002t0001g0066 a0002c0002t0001g0100	3	334	0.0090	20	c.136 others(37): Show c.136+6256_136+6275dupATATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27251189	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01361.hp1 HG02922.hp2 others(1): Show HG00673.hp2 HG01361.hp1 HG02922.hp2 NA18989.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0071 a0002c0002t0001g0096 a0002c0002t0001g0097 others(1): Show a0002c0002t0001g0071 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0011t0001g0098	4	334	0.0120	20	c.136 others(37): Show c.136+6245_136+6246insTTATATATATATATATATAT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27271559	G G	GCGCGCGC others(13): Show GCGCGCGCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp1 NA19030.hp2 HG01891.hp1 HG02622.hp1 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0140 a0003c0004t0001g0146 a0003c0004t0001g0152 a0003c0004t0001g0140 a0003c0004t0001g0146 a0003c0004t0001g0152	3	334	0.0090	20	c.-28 others(31): Show c.-2866_-2865insTGTGTGTGTGTGTGCGCGCG	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding		2788		chr16	TogoVar
NSMCE2_chr8_125086860_125372120	125183634	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	244	0.0041	20	c.418 others(37): Show c.418+1387_418+1406dupGTGTGTGTGTGTGTGTGTGT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125213485	G G	GTCTCCTC others(13): Show GTCTCCTCTCCTCTCCTCTCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	244	0.0041	20	c.418 others(39): Show c.418+31265_418+31284dupTCTCCTCTCCTCTCCTCTCC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125213707	C C	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTATTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(185): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0002c0002t0001 a0003c0004t0001 a0004c0005t0004	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(185): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0003g0019 a0001c0003t0001g0137 a0002c0002t0001g0239 a0002c0002t0001g0240 a0003c0004t0001g0156 a0004c0005t0004g0199	188	244	0.7705	20	c.418 others(39): Show c.418+31468_418+31487dupATTTCCTTCCTTCCTTCCTT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125223062	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	244	0.0041	20	c.418 others(39): Show c.418+40814_418+40833dupAATAAAATAAAATAAAATAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125316732	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp2 HG02572.hp2 others(16): Show HG02145.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 NA18942.hp1 NA19043.hp2 NA19240.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0065 others(16): Show a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0236 a0001c0001t0002g0009 a0001c0001t0002g0120 a0001c0001t0002g0130	19	244	0.0779	20	c.419 others(39): Show c.419-40467_419-40448dupCTTCCTTCCTTCCTTCCTTC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125320251	G G	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	244	0.0041	20	c.419 others(39): Show c.419-36929_419-36910dupAAGGAAGGAAGGAAGGAAGG	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSRP1_chr17_30111816_30191475	30122352	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	282	0.0036	20	c.114 others(37): Show c.114+4194_114+4213dupATATATATATATATATATAT	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(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01952.hp2 HG02647.hp1 others(3): Show HG00735.hp1 HG01952.hp2 HG02647.hp1 HG02886.hp2 HG02965.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0001t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0004g0138 others(3): Show a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0004g0138 a0001c0001t0004g0208 a0001c0003t0001g0090 a0001c0003t0001g0121	6	438	0.0137	20	c.109 others(37): Show c.1095+276_1095+277insTTTTTTTTTTTTTTTTTTTT	NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	10/18			chr5	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(13): Show AAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03927.hp1 NA20752.hp2 others(1): Show HG02602.hp2 HG03927.hp1 NA20752.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0014 a0003c0003t0006 a0003c0003t0014	a0003c0003t0006g0151 a0003c0003t0006g0153 a0003c0003t0006g0155 others(1): Show a0003c0003t0006g0151 a0003c0003t0006g0153 a0003c0003t0006g0155 a0003c0003t0014g0084	4	388	0.0103	20	c.754 others(35): Show c.754-454_754-453insAAAAAAAAAATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0200 a0003c0003t0003g0200	1	388	0.0026	20	c.754 others(35): Show c.754-454_754-453insAAAAAATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18551244	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0138 a0001c0001t0004g0138	1	346	0.0029	20	c.107 others(37): Show c.1071+559_1071+578dupCACACACACACACACACACA	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	9/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18972.hp1 NA18967.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0108 a0001c0001t0001g0036 a0001c0001t0001g0108	2	346	0.0058	20	c.658 others(37): Show c.658-4615_658-4614insATATATATATATATATTTTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	346	0.0029	20	c.658 others(37): Show c.658-4615_658-4614insATATATATATATATATATTT	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar
NT5C1A_chr1_39646229_39677107	39662027	A A	AAGGATGC others(13): Show AAGGATGCCTCTCAGGGGTTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0138 a0001c0001t0091g0138	1	326	0.0031	20	c.557 others(35): Show c.557-784_557-765dupGAACCCCTGAGAGGCATCCT	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	4/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664062	A A	AAATTAGG others(13): Show AAATTAGGATTTAAAAATGCC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	326	0.0031	20	c.434 others(35): Show c.434-648_434-629dupGGCATTTTTAAATCCTAATT	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1B_chr2_18557871_18594569	18571718	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0272 a0003c0004t0002g0272	1	392	0.0026	20	c.132 others(39): Show c.1329+4465_1329+4466insTATATATATATATACACACA	NT5C1B	ENSG00000185013.17	transcript	ENST00000304081.9	protein_coding	8/8			chr2	TogoVar
NT5C2_chr10_103083038_103198272	103087140	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	340	0.0029	20	c.25 others(31): Show c.2512_*2531dupAAAAAAAAAAAAAAAAAAAA	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding		897		chr10	TogoVar
NT5C2_chr10_103083038_103198272	103183262	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02602.hp2 HG02717.hp1 others(1): Show HG02280.hp2 HG02602.hp2 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0208 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0208 a0001c0002t0005g0334	4	340	0.0118	20	c.-16 others(39): Show c.-168-1954_-168-1935dupATATATATATATATATATAT	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	1/18			chr10	TogoVar
NT5C2_chr10_103083038_103198272	103193307	C C	CCGCCGCC others(13): Show CCGCCGCCCGGCACCGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	340	0.0029	20	c.-26 others(29): Show c.-260_-241dupCGGGGCGGTGCCGGGCGGCG	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding		36		chr10	TogoVar
NT5C3A_chr7_33009130_33067776	33062806	C C	CGCGACGC others(13): Show CGCGACGCCCCGCCCCGCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0154	1	400	0.0025	20	c.-10 others(29): Show c.-102_-101insTGCGCGGGGCGGGGCGTCGC	NT5C3A	ENSG00000122643.23	transcript	ENST00000610140.7	protein_coding		31		chr7	TogoVar
NT5DC1_chr6_116095853_116254497	116107540	T T	TTTTTATT others(13): Show TTTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 NA20300.hp2 HG02451.hp1 HG03139.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0106 a0001c0001t0010g0102 a0001c0001t0010g0244 a0001c0001t0002g0106 a0001c0001t0010g0102 a0001c0001t0010g0244	3	300	0.0100	20	c.186 others(35): Show c.186-794_186-775dupATTTTATTTTATTTTATTTT	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116141885	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0109 a0001c0001t0009g0109	1	300	0.0033	20	c.529 others(39): Show c.529+23963_529+23982dupACACACACACACACACACAC	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116163141	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02257.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	300	0.0067	20	c.529 others(39): Show c.529+45197_529+45198insAATATATATATATATATATA	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116163141	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG03453.hp1 HG01891.hp2 HG02647.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0023 a0001c0001t0001 a0001c0001t0023	a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0023g0123 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0023g0123	3	300	0.0100	20	c.529 others(39): Show c.529+45199_529+45218dupATATATATATATATATATAT	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116182222	A A	AGAGAGAG others(13): Show AGAGAGAGAGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0238 a0001c0001t0020g0238	1	300	0.0033	20	c.530 others(39): Show c.530-38831_530-38830insAGAGAGAGTGTGTGTGTGTG	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116182222	A A	AGAGTGTG others(13): Show AGAGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0262 a0001c0001t0005g0262	1	300	0.0033	20	c.530 others(39): Show c.530-38831_530-38830insAGTGTGTGTGTGTGTGTGTG	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC1_chr6_116095853_116254497	116246468	T T	TACACACA others(13): Show TACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG03579.hp1 HG01891.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0116 a0001c0001t0016g0117 a0001c0001t0016g0116 a0001c0001t0016g0117	2	300	0.0067	20	c.24 others(31): Show c.2451_*2470dupACACACACACACACACACAC	NT5DC1	ENSG00000178425.14	transcript	ENST00000319550.9	protein_coding	12/12	2471	INFO_REALIGN_3_PRIME	chr6	TogoVar
NT5DC3_chr12_103767310_103846234	103840377	G G	GCTCAGCT others(13): Show GCTCAGCTCATCTCATCTCAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp2 HG01975.hp2 others(2): Show HG01123.hp1 HG01123.hp2 HG01975.hp2 HG02148.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0004	a0001c0001t0005g0058 a0001c0001t0006g0054 a0001c0001t0006g0056 others(2): Show a0001c0001t0005g0058 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0002t0001g0057 a0001c0003t0004g0055	5	386	0.0130	20	c.208 others(35): Show c.208+571_208+572insATGAGATGAGATGAGCTGAG	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103840377	G G	GCTCATCT others(13): Show GCTCATCTCATCTCATCTCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00735.hp1 others(25): Show HG00280.hp2 HG00609.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01433.hp1 HG01884.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG03654.hp1 HG03669.hp2 HG04199.hp1 NA19056.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(14): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0023 a0001c0001t0028 a0001c0001t0088 a0001c0002t0001 a0001c0002t0007 a0001c0002t0015 a0001c0002t0018 a0001c0002t0047 a0001c0003t0004 a0001c0004t0008 a0001c0004t0073 a0001c0004t0074 a0001c0005t0003	a0001c0001t0003g0035 a0001c0001t0005g0047 a0001c0001t0006g0004 others(23): Show a0001c0001t0003g0035 a0001c0001t0005g0047 a0001c0001t0006g0004 a0001c0001t0006g0033 a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0052 a0001c0001t0011g0053 a0001c0001t0023g0051 a0001c0001t0028g0003 a0001c0001t0088g0034 a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0007g0036 a0001c0002t0015g0038 a0001c0002t0018g0044 a0001c0002t0047g0030 a0001c0003t0004g0041 a0001c0004t0008g0039 a0001c0004t0073g0031 a0001c0004t0074g0032 a0001c0005t0003g0045 a0001c0005t0003g0046	28	386	0.0725	20	c.208 others(35): Show c.208+552_208+571dupATGAGATGAGATGAGATGAG	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103840421	A A	ATCTCATC others(13): Show ATCTCATCTCATCTCATCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA21309.hp1 HG00323.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0021 a0001c0001t0005 a0001c0006t0021	a0001c0001t0005g0022 a0001c0006t0021g0021 a0001c0001t0005g0022 a0001c0006t0021g0021	2	386	0.0052	20	c.208 others(35): Show c.208+527_208+528insGGAGATGAGATGAGATGAGA	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
NT5DC4_chr2_112716020_112744095	112719840	T T	TTCCCTCC others(13): Show TTCCCTCCCTCCCTCCCTCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01261.hp1 NA18966.hp2 HG00642.hp1 HG01261.hp1 NA18966.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0146 a0002c0002t0001g0174 a0002c0002t0001g0189 a0002c0002t0001g0146 a0002c0002t0001g0174 a0002c0002t0001g0189	3	364	0.0082	20	c.-12 others(31): Show c.-1240_-1239insTCCCTCCCTCCCTCCCTCCC	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1179		chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112719924	C C	CTTTCTTT others(13): Show CTTTCTTTCTTTCTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	364	0.0028	20	c.-11 others(31): Show c.-1156_-1155insTTTCTTTCTTTCTCTTTCTT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding		1095		chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112723361	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18955.hp1 NA18963.hp2 others(2): Show HG01934.hp1 NA18955.hp1 NA18963.hp2 NA18990.hp2 NA18992.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0013 a0001c0001 a0002c0002 a0010c0013	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0010c0013t0001	a0001c0001t0001g0087 a0001c0001t0001g0207 a0001c0001t0003g0208 others(2): Show a0001c0001t0001g0087 a0001c0001t0001g0207 a0001c0001t0003g0208 a0002c0002t0001g0138 a0010c0013t0001g0086	5	364	0.0137	20	c.622 others(33): Show c.622-42_622-23dupCACACACACACACACACACA	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112723394	C C	CACACACA others(13): Show CACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0139 a0004c0004t0001g0139	1	364	0.0028	20	c.622 others(33): Show c.622-23_622-22insCACACACACACACACACAGA	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112734169	A A	ATATATAT others(13): Show ATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG03139.hp1 others(3): Show HG02109.hp2 HG02717.hp1 HG03139.hp1 HG03453.hp1 NA19030.hp2 NA19043.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0004c0009 a0005c0006 a0004c0004 a0004c0009 a0005c0006	a0004c0004t0001 a0004c0009t0001 a0005c0006t0001 a0004c0004t0001 a0004c0009t0001 a0005c0006t0001	a0004c0004t0001g0139 a0004c0004t0001g0259 a0004c0009t0001g0075 others(2): Show a0004c0004t0001g0139 a0004c0004t0001g0259 a0004c0009t0001g0075 a0005c0006t0001g0022 a0005c0006t0001g0062	6	364	0.0165	20	c.134 others(39): Show c.1344+4466_1344+4467insATATATGTGTGTGTGTGTGT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112734169	A A	ATATATGT others(13): Show ATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	364	0.0028	20	c.134 others(39): Show c.1344+4466_1344+4467insATATGTGTGTGTGTGTGTGT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112734169	A A	ATATGTGT others(13): Show ATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	364	0.0028	20	c.134 others(39): Show c.1344+4466_1344+4467insATGTGTGTGTGTGTGTGTGT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5DC4_chr2_112716020_112744095	112734169	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0081 a0003c0003t0004g0081	1	364	0.0028	20	c.134 others(39): Show c.1344+4479_1344+4498dupGTGTGTGTGTGTGTGTGTGT	NT5DC4	ENSG00000144130.12	transcript	ENST00000688554.1	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar

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