Joint Open Genome and Omics Platform (JoGo)

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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
NRXN1_chr2_49913503_51037132	50828445	GGGCGGAG others(33): Show GGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0060 a0003c0007t0060	a0003c0007t0060g0113 a0003c0007t0060g0113	1	116	0.0086	-40	c.832 others(59): Show c.832+93384_832+93423delTGGCAACCGCCCCGTCTGAGAAGTGA GGAGCCCCTCCGCC		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22						chr2	TogoVar
NSD2_chr4_1866393_1987192	1951443	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19030.hp2 HG03098.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0015 a0001c0002t0005 a0001c0002t0015	a0001c0002t0005g0002 a0001c0002t0015g0001 a0001c0002t0005g0002 a0001c0002t0015g0001	2	21	0.0952	-40	c.201 others(57): Show c.2013+282_2013+321delCACACACACACACACACACACACACACA CACACACACACA		NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
NSMCE1_chr16_27219994_27273772	27261172	AAAAAAAA others(33): Show AAAAAAAAAAAAGAAACTATAAAAAGAACTACAAATTAAAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0098 a0002c0002t0001g0098	1	332	0.0030	-40	c.-11 others(57): Show c.-11-3631_-11-3592delATTTAATTTGTAGTTCTTTTTATAGTTT CTTTTTTTTTTT		NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	1/7						chr16	TogoVar
NSUN7_chr4_40744955_40816184	40757588	CACATTGT others(33): Show CACATTGTGTGTATATATATACATTGTGTGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0245 a0001c0001t0007g0245	1	389	0.0026	-40	c.299 others(57): Show c.299-2817_299-2778delGTATATATATATACATTGTGTGTATATA TATACATTGTGT		NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
NT5C2_chr10_103083038_103198272	103128859	CCTCCGCC others(33): Show CCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01978.hp1 HG01257.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0303 a0001c0001t0002g0304	2	338	0.0059	-40	c.175 others(59): Show c.175+10507_175+10546delAGGCTCCTCACTTCTCAGACGGGGCA GCTGCCGGGCGGAG		NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18						chr10	TogoVar
NTAQ1_chr8_123411774_123447240	123412316	TTTAATTA others(33): Show TTTAATTAATAAAAATATCAATTCAACAAGGATTTATGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	364	0.0027	-40	c.-45 others(51): Show c.-4533_-4494delTTAATTAATAAAAATATCAATTCAACAAGGATTT ATGCCA		NTAQ1	ENSG00000156795.8	transcript	ENST00000287387.7	protein_coding					4457		chr8	TogoVar
NTM_chr11_131365615_132341822	132314097	ATTTTTCT others(33): Show ATTTTTCTTTCAAATTCCTCAGGTGGCTCTTCTCTCAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	86	0.0116	-40	c.783 others(55): Show c.783-451_783-412delTTCTTTCAAATTCCTCAGGTGGCTCTTCTC TCAGAAGTTT		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9231702	ACTCCCGC others(33): Show ACTCCCGCTCTGTGGAGTGGTATTAATATACATCTGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00597.hp2 others(34): Show HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02056.hp1 HG02080.hp1 HG02293.hp2 HG02602.hp1 HG02698.hp1 HG03490.hp2 HG03831.hp1 HG04228.hp1 HG04228.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18969.hp2 NA18970.hp1 NA18984.hp2 NA19004.hp1 NA19065.hp1 NA19065.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0027 a0001c0001t0033 a0001c0001t0036 a0001c0001t0050 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0053 a0001c0003t0001 a0001c0004t0002	a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0081 others(34): Show a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0194 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0220 a0001c0001t0002g0243 a0001c0001t0002g0258 a0001c0001t0003g0109 a0001c0001t0003g0217 a0001c0001t0006g0094 a0001c0001t0006g0170 a0001c0001t0008g0179 a0001c0001t0011g0154 a0001c0001t0011g0192 a0001c0001t0015g0195 a0001c0001t0015g0231 a0001c0001t0027g0174 a0001c0001t0033g0196 a0001c0001t0036g0082 a0001c0001t0050g0142 a0001c0001t0059g0115 a0001c0002t0001g0058 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0166 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0003g0193 a0001c0002t0003g0228 a0001c0002t0053g0131 a0001c0003t0001g0221 a0001c0004t0002g0071	37	256	0.1445	-40	c.148 others(59): Show c.1487-7935_1487-7896delCCCGCTCTGTGGAGTGGTATTAATAT ACATCTGCAGGCCT		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN5_chr19_48656407_48678017	48669952	CACCATCA others(33): Show CACCATCACCATCACCACCATCATCACCATCATCACCACCA	C C	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	410	0.0024	-40	c.631 others(55): Show c.631+364_631+403delTGGTGGTGATGATGGTGATGATGGTGGTGA TGGTGATGGT		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NTRK2_chr9_84664729_85032054	85027252	CCCCTGGG others(33): Show CCCCTGGGCTCAAGCCATCCTCCTGCCTTAGCCTTCTGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp2 HG00642.hp1 others(119): Show HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18999.hp2 NA19005.hp1 NA19006.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0002c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0055 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0021 a0001c0002t0042 a0001c0003t0001 a0001c0003t0002 a0001c0003t0013 a0001c0003t0046 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0018 a0001c0008t0018 a0002c0006t0003 a0003c0009t0009	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0022 others(119): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0048 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0002g0007 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0035 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0055 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0157 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0084 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0111 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0006g0170 a0001c0001t0007g0072 a0001c0001t0007g0081 a0001c0001t0007g0083 a0001c0001t0007g0087 a0001c0001t0007g0107 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0155 a0001c0001t0008g0162 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0149 a0001c0001t0010g0080 a0001c0001t0010g0103 a0001c0001t0010g0117 a0001c0001t0010g0148 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0001t0011g0134 a0001c0001t0012g0030 a0001c0001t0012g0060 a0001c0001t0012g0167 a0001c0001t0013g0109 a0001c0001t0015g0040 a0001c0001t0015g0137 a0001c0001t0016g0135 a0001c0001t0016g0159 a0001c0001t0017g0028 a0001c0001t0017g0052 a0001c0001t0019g0104 a0001c0001t0019g0118 a0001c0001t0020g0112 a0001c0001t0020g0113 a0001c0001t0021g0101 a0001c0001t0026g0153 a0001c0001t0027g0029 a0001c0001t0028g0151 a0001c0001t0029g0051 a0001c0001t0030g0038 a0001c0001t0031g0059 a0001c0001t0032g0024 a0001c0001t0033g0015 a0001c0001t0037g0161 a0001c0001t0038g0158 a0001c0001t0039g0010 a0001c0001t0040g0160 a0001c0001t0041g0127 a0001c0001t0044g0150 a0001c0001t0045g0106 a0001c0001t0047g0086 a0001c0001t0048g0070 a0001c0001t0049g0097 a0001c0001t0050g0073 a0001c0001t0055g0064 a0001c0001t0059g0001 a0001c0002t0001g0037 a0001c0002t0002g0057 a0001c0002t0007g0092 a0001c0002t0007g0094 a0001c0002t0008g0011 a0001c0002t0013g0114 a0001c0002t0021g0082 a0001c0002t0042g0041 a0001c0003t0001g0014 a0001c0003t0002g0043 a0001c0003t0013g0115 a0001c0003t0046g0116 a0001c0004t0002g0164 a0001c0004t0003g0091 a0001c0005t0001g0025 a0001c0005t0018g0012 a0001c0008t0018g0006 a0002c0006t0003g0088 a0003c0009t0009g0133	122	168	0.7262	-40	c.58 others(51): Show c.5816_*5855delCCCTGGGCTCAAGCCATCCTCCTGCCTTAGCCTT CTGACT		NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding					199		chr9	TogoVar
NTSR1_chr20_62703836_62767771	62761703	CTTGGGCT others(33): Show CTTGGGCTGTGTTCAGCCACTTTGCCTTCTCTGGACTCAGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0089 a0001c0002t0041g0089	1	314	0.0032	-40	c.14 others(51): Show c.1439_*1478delGGGCTGTGTTCAGCCACTTTGCCTTCTCTGGACT CAGTTT		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	4/4				1439	INFO_REALIGN_3_PRIME	chr20	TogoVar
NUDT2_chr9_34324569_34348699	34346359	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	354	0.0028	-40	c.29 others(51): Show c.2920_*2959delATATATATATATATATATATATATATATATATAT ATATAT		NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding					2661		chr9	TogoVar
NUDT2_chr9_34324569_34348699	34346380	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 NA18944.hp2 NA19072.hp2 HG01175.hp2 NA18944.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0190 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0190	3	434	0.0069	-40	c.29 others(51): Show c.2941_*2980delTATATATATATATATATATATATATATATATATA TATATG		NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding					2682		chr9	TogoVar
NUMB_chr14_73270216_73463546	73352469	CACACACA others(33): Show CACACACACATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18969.hp1 NA18995.hp1 others(2): Show HG04228.hp1 NA18969.hp1 NA18995.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306	5	317	0.0158	-40	c.126 others(57): Show c.126+3117_126+3156delATATATATATATATATATATATATATAT ATATGTGTGTGT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUP155_chr5_37283137_37376106	37295576	AGCCGCCA others(33): Show AGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(54): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02004.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp2 HG03453.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp2 NA18954.hp1 NA18968.hp2 NA18979.hp2 NA18984.hp2 NA19000.hp2 NA19001.hp1 NA19056.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0002t0014 a0001c0002t0019 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0043 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0002t0053 a0001c0002t0054	a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0148 others(54): Show a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0004g0149 a0001c0002t0002g0068 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0007g0066 a0001c0002t0007g0078 a0001c0002t0007g0079 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0007g0085 a0001c0002t0007g0086 a0001c0002t0007g0087 a0001c0002t0007g0088 a0001c0002t0013g0071 a0001c0002t0013g0072 a0001c0002t0013g0074 a0001c0002t0013g0076 a0001c0002t0014g0093 a0001c0002t0014g0096 a0001c0002t0014g0100 a0001c0002t0014g0105 a0001c0002t0019g0065 a0001c0002t0019g0082 a0001c0002t0019g0090 a0001c0002t0022g0031 a0001c0002t0022g0070 a0001c0002t0023g0032 a0001c0002t0023g0033 a0001c0002t0024g0067 a0001c0002t0024g0080 a0001c0002t0043g0075 a0001c0002t0044g0292 a0001c0002t0045g0092 a0001c0002t0046g0081 a0001c0002t0047g0089 a0001c0002t0048g0069 a0001c0002t0053g0077 a0001c0002t0054g0073	57	297	0.1919	-40	c.379 others(59): Show c.3794-1151_3794-1112delCGGGAAGAGGCGCTCCTCACTTCCTA GATGGGATGGCGGC		NUP155	ENSG00000113569.16	transcript	ENST00000231498.8	protein_coding	32/34						chr5	TogoVar
NUP160_chr11_47773118_47853350	47850823	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(100): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19062.hp2 NA19065.hp1 NA19074.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0005 a0002c0002 a0002c0013 others(4): Show a0001c0005 a0002c0002 a0002c0013 a0002c0014 a0003c0003 a0004c0007 a0006c0012	a0001c0005t0001 a0002c0002t0001 a0002c0013t0001 others(4): Show a0001c0005t0001 a0002c0002t0001 a0002c0013t0001 a0002c0014t0001 a0003c0003t0001 a0004c0007t0001 a0006c0012t0001	a0001c0005t0001g0050 a0001c0005t0001g0123 a0002c0002t0001g0001 others(99): Show a0001c0005t0001g0050 a0001c0005t0001g0123 a0002c0002t0001g0001 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0013t0001g0115 a0002c0014t0001g0048 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0016 a0004c0007t0001g0044 a0004c0007t0001g0114 a0006c0012t0001g0078	103	161	0.6398	-40	c.-25 others(51): Show c.-2545_-2506delATATATATATATATATATATATATATATATATAT ATATAT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding					2474		chr11	TogoVar
NUP205_chr7_135552917_135653753	135567120	CTATGTGT others(33): Show CTATGTGTGTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp1 HG01978.hp1 others(10): Show HG00673.hp2 HG00738.hp1 HG01978.hp1 HG02148.hp2 HG03041.hp1 HG03209.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03927.hp2 NA20129.hp1 NA20752.hp2	a0002 a0002	a0002c0006 a0002c0019 a0002c0006 a0002c0019	a0002c0006t0001 a0002c0019t0001 a0002c0006t0001 a0002c0019t0001	a0002c0006t0001g0010 a0002c0006t0001g0013 a0002c0006t0001g0014 others(10): Show a0002c0006t0001g0010 a0002c0006t0001g0013 a0002c0006t0001g0014 a0002c0006t0001g0015 a0002c0006t0001g0016 a0002c0006t0001g0024 a0002c0006t0001g0086 a0002c0006t0001g0093 a0002c0006t0001g0094 a0002c0006t0001g0095 a0002c0006t0001g0141 a0002c0006t0001g0249 a0002c0019t0001g0020	13	137	0.0949	-40	c.29- others(55): Show c.29-3981_29-3942delGTGTGTATATATATATATATATATATATAT ATATATATAT		NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42					INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP210L_chr1_153987690_154160073	154125622	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0222 a0001c0003t0001g0222	1	23	0.0435	-40	c.132 others(57): Show c.1326+661_1326+700delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	10/39						chr1	TogoVar
NUP37_chr12_102068103_102125114	102089318	GGGGTGGC others(33): Show GGGGTGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG02572.hp1 others(4): Show HG01891.hp1 HG02486.hp2 HG02572.hp1 HG02886.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 others(4): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178	7	396	0.0177	-40	c.450 others(57): Show c.450-3502_450-3463delAGTCTGGGATGTGAGGAGCGCCTCTGCC CGGCCGCCACCC		NUP37	ENSG00000075188.9	transcript	ENST00000552283.6	protein_coding	5/9						chr12	TogoVar
NUP54_chr4_76109664_76153397	76125258	CAACAGAG others(33): Show CAACAGAGTGAAACTCCATCTCACAGAAACAAAAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG02040.hp2 others(15): Show HG00558.hp2 HG00673.hp2 HG02040.hp2 HG02071.hp1 HG02129.hp1 HG02155.hp2 HG03927.hp2 HG04184.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18964.hp2 NA18980.hp2 NA19003.hp2 NA19004.hp2 NA19076.hp2 NA19084.hp2 NA20752.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0003 a0004c0007t0003 a0002c0002t0003 a0004c0007t0003	a0002c0002t0003g0003 a0002c0002t0003g0008 a0002c0002t0003g0031 others(9): Show a0002c0002t0003g0003 a0002c0002t0003g0008 a0002c0002t0003g0031 a0002c0002t0003g0034 a0002c0002t0003g0042 a0002c0002t0003g0047 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0062 a0002c0002t0003g0068 a0002c0002t0003g0073 a0004c0007t0003g0063	18	368	0.0489	-40	c.105 others(57): Show c.1057-542_1057-503delTTTTGTTTTTTGTTTCTGTGAGATGGAG TTTCACTCTGTT		NUP54	ENSG00000138750.16	transcript	ENST00000264883.8	protein_coding	8/11						chr4	TogoVar
NUP93_chr16_56725129_56855286	56740195	GGCTGCCG others(33): Show GGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02071.hp1 HG03239.hp2 others(16): Show HG00621.hp1 HG02071.hp1 HG03239.hp2 NA18940.hp2 NA18943.hp2 NA18946.hp2 NA18961.hp2 NA18970.hp1 NA18981.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA19004.hp2 NA19005.hp2 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0036 a0001c0001t0038 a0001c0001t0001 a0001c0001t0036 a0001c0001t0038	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(16): Show a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0036g0150 a0001c0001t0038g0152	19	376	0.0505	-40	c.-14 others(57): Show c.-14-8024_-14-7985delAGGCTCCTCACTTCTCAGACGGGGCAGC TGCCGGGCGGAG		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56810727	TACCAGCG others(33): Show TACCAGCGCCCCAGAAATCCTCTTTGTGGTCCTTTCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00642.hp2 others(38): Show HG00323.hp1 HG00639.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02148.hp2 HG02257.hp2 HG02559.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp1 HG03942.hp2 HG04204.hp2 NA18942.hp1 NA18952.hp2 NA18961.hp1 NA18969.hp2 NA18979.hp1 NA18999.hp1 NA19005.hp1 NA19062.hp2 NA19064.hp1 NA19077.hp2 NA19085.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0005 a0007c0013 others(1): Show a0001c0001 a0001c0005 a0007c0013 a0008c0023	a0001c0001t0003 a0001c0001t0007 a0001c0001t0027 others(4): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0027 a0001c0001t0028 a0001c0005t0007 a0007c0013t0007 a0008c0023t0026	a0001c0001t0003g0004 a0001c0001t0003g0348 a0001c0001t0003g0349 others(37): Show a0001c0001t0003g0004 a0001c0001t0003g0348 a0001c0001t0003g0349 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0368 a0001c0001t0003g0371 a0001c0001t0003g0372 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0340 a0001c0001t0027g0369 a0001c0001t0028g0358 a0001c0005t0007g0183 a0001c0005t0007g0184 a0001c0005t0007g0185 a0001c0005t0007g0186 a0001c0005t0007g0187 a0001c0005t0007g0188 a0001c0005t0007g0189 a0001c0005t0007g0197 a0007c0013t0007g0190 a0008c0023t0026g0370	41	376	0.1090	-40	c.489 others(57): Show c.489+5140_489+5179delGCGCCCCAGAAATCCTCTTTGTGGTCCT TTCTGGTCACCA		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NWD2_chr4_37239743_37454463	37405421	TAATAGAA others(33): Show TAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00673.hp1 others(17): Show HG00099.hp2 HG00642.hp2 HG00673.hp1 HG01074.hp2 HG01346.hp2 HG01517.hp2 HG03239.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 NA18951.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18980.hp1 NA18990.hp1 NA19058.hp2 NA19079.hp2 NA19082.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0010c0024	a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0005t0002 a0001c0007t0004 a0010c0024t0002	a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 others(16): Show a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0072 a0001c0001t0002g0116 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0197 a0001c0001t0002g0207 a0001c0001t0005g0265 a0001c0001t0005g0269 a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0019g0102 a0001c0005t0002g0140 a0001c0005t0002g0164 a0001c0007t0004g0002 a0010c0024t0002g0079	20	49	0.4082	-40	c.358 others(59): Show c.358-25118_358-25079delTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAA		NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2_chrX_102242167_102331722	102274510	TCTTCTTC others(33): Show TCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	38	0.0263	-40	c.-54 others(59): Show c.-54+25966_-54+26005delCTCTTCCTCTTCCTCTTCCTCTTCTT CCTTCTTCTTCTTC		NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22					INFO_REALIGN_3_PRIME	chrX	TogoVar
NYAP1_chr7_100478927_100499802	100488620	ACCGCCGC others(33): Show ACCGCCGCCCAGCTTCAGCCCTCCCGAGCCGGAGGGACGGG	A A	frameshift_variant frameshift_variant	HIGH	NA19076.hp2 NA19076.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0013 a0008c0007t0013	a0008c0007t0013g0003 a0008c0007t0013g0003	1	364	0.0027	-40	c.900 others(47): Show c.900_939delCCGCCGCCCAGCTTCAGCCCTCCCGAGCCGGAGGGACG GG	p.His others(5): Show p.His300fs	NYAP1	ENSG00000166924.9	transcript	ENST00000300179.7	protein_coding	4/7	1059/3584	900/2526	300/841			chr7	TogoVar
OBSL1_chr2_219545728_219576539	219572021	GTGAGTGT others(33): Show GTGAGTGTGTGTGTGAGTGTGTGTGTGTGTAGGGAGAAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	378	0.0026	-40	c.-82 others(49): Show c.-829_-790delACCTTCTCCCTACACACACACACACTCACACACACA CTCA		OBSL1	ENSG00000124006.15	transcript	ENST00000404537.6	protein_coding					483		chr2	TogoVar
OC90_chr8_132019216_132064382	132028543	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(239): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0005 a0006 others(2): Show a0001 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0001c0018 a0001c0019 a0005c0010 a0006c0021 a0008c0013 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0001 a0001c0015t0002 a0001c0018t0001 a0001c0019t0002 a0005c0010t0001 a0006c0021t0002 a0008c0013t0002 a0009c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0022 others(97): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0190 a0001c0001t0003g0109 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0032 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0013 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0047 a0001c0002t0002g0061 a0001c0002t0002g0119 a0001c0002t0002g0124 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0150 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0003g0008 a0001c0005t0001g0020 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0031 a0001c0005t0001g0041 a0001c0005t0001g0070 a0001c0015t0002g0130 a0001c0018t0001g0071 a0001c0019t0002g0189 a0005c0010t0001g0026 a0006c0021t0002g0137 a0008c0013t0002g0151 a0009c0011t0001g0065	242	385	0.6286	-40	c.113 others(57): Show c.1138+490_1138+529delCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTT		OC90	ENSG00000253117.5	transcript	ENST00000254627.4	protein_coding	13/13						chr8	TogoVar
OCA2_chr15_27749875_28104315	27913888	AAAGAAAG others(33): Show AAAGAAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01256.hp2 HG03130.hp2 HG00280.hp2 HG01256.hp2 HG03130.hp2	a0001 a0005 a0001 a0005	a0001c0006 a0005c0034 a0001c0006 a0005c0034	a0001c0006t0001 a0005c0034t0001 a0001c0006t0001 a0005c0034t0001	a0001c0006t0001g0004 a0001c0006t0001g0039 a0005c0034t0001g0078 a0001c0006t0001g0004 a0001c0006t0001g0039 a0005c0034t0001g0078	3	108	0.0278	-40	c.207 others(61): Show c.2079+12199_2079+12238delGCTTGCTTGCTTGCTTGCTTGCTT GCTTGCTTGCTTTCTT		OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23						chr15	TogoVar
OCM2_chr7_97979687_97995196	97982006	TAAAGAAT others(33): Show TAAAGAATCCTTAGCTGGGGACGGTCGGTGGAGTGAAAAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	448	0.0022	-40	c.29 others(51): Show c.2912_*2951delTCTTTTCACTCCACCGACCGTCCCCAGCTAAGGA TTCTTT		OCM2	ENSG00000135175.6	transcript	ENST00000257627.5	protein_coding					2680		chr7	TogoVar
ODF3L2_chr19_458361_479983	472917	AACTGAGG others(33): Show AACTGAGGCCTAGGCAGAGATACATGGTCACAGATGGGGAG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG04115.hp2 HG04228.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0009 a0001c0003 a0004c0009	a0001c0003t0002 a0004c0009t0002 a0001c0003t0002 a0004c0009t0002	a0001c0003t0002g0111 a0001c0003t0002g0113 a0004c0009t0002g0112 a0001c0003t0002g0111 a0001c0003t0002g0113 a0004c0009t0002g0112	3	322	0.0093	-40	c.128 others(55): Show c.128-456_128-417delCTCCCCATCTGTGACCATGTATCTCTGCCT AGGCCTCAGT		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3						chr19	TogoVar
ODF3L2_chr19_458361_479983	472957	GACTGAGG others(33): Show GACTGAGGCCCAGGCAGAGATACATGGTCACAGATGGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(116): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02615.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0013	a0001c0002 a0001c0015 a0002c0001 others(5): Show a0001c0002 a0001c0015 a0002c0001 a0002c0005 a0003c0004 a0004c0006 a0007c0011 a0013c0023	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0015t0002 a0002c0001t0001 a0002c0001t0005 a0002c0005t0001 a0003c0004t0001 a0004c0006t0001 a0007c0011t0001 a0013c0023t0001	a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0026 others(42): Show a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0001g0164 a0001c0002t0002g0127 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0003g0134 a0001c0015t0002g0133 a0001c0015t0002g0135 a0002c0001t0001g0001 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0040 a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0044 a0002c0001t0001g0114 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0118 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0123 a0002c0001t0001g0124 a0002c0001t0001g0126 a0002c0001t0001g0151 a0002c0001t0001g0156 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0005g0125 a0002c0005t0001g0009 a0002c0005t0001g0023 a0003c0004t0001g0014 a0003c0004t0001g0119 a0003c0004t0001g0120 a0004c0006t0001g0153 a0004c0006t0001g0158 a0007c0011t0001g0117 a0013c0023t0001g0157	119	322	0.3696	-40	c.128 others(55): Show c.128-496_128-457delTTCCCCATCTGTGACCATGTATCTCTGCCT GGGCCTCAGT		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3						chr19	TogoVar
ODF3L2_chr19_458361_479983	473021	TGGTCACA others(33): Show TGGTCACAGATGGGGAAACTGAGGCCCAGGCAGAGATACAC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03017.hp2 HG02976.hp1 HG03017.hp2	a0008 a0012 a0008 a0012	a0008c0014 a0012c0018 a0008c0014 a0012c0018	a0008c0014t0006 a0012c0018t0008 a0008c0014t0006 a0012c0018t0008	a0008c0014t0006g0148 a0012c0018t0008g0149 a0008c0014t0006g0148 a0012c0018t0008g0149	2	312	0.0064	-40	c.128 others(55): Show c.128-560_128-521delGTGTATCTCTGCCTGGGCCTCAGTTTCCCC ATCTGTGACC		ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3						chr19	TogoVar
OGFOD3_chr17_82384210_82423586	82412318	GTCGGGGC others(33): Show GTCGGGGCAGGGGCATGGTTATCGGGGCAGGGGCATGGTTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02809.hp1 others(1): Show HG02055.hp1 HG02630.hp1 HG02809.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0021t0033	a0001c0001t0001g0047 a0001c0001t0008g0048 a0001c0002t0001g0100 others(1): Show a0001c0001t0001g0047 a0001c0001t0008g0048 a0001c0002t0001g0100 a0001c0021t0033g0043	4	133	0.0301	-40	c.305 others(55): Show c.305-828_305-789delTAACCATGCCCCTGCCCCGATAACCATGCC CCTGCCCCGA		OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	2/8						chr17	TogoVar
OGFOD3_chr17_82384210_82423586	82412433	TGGTTATC others(33): Show TGGTTATCGGGGCAGGGGCATGGTTATCGGGGCAGGGGCAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01361.hp2 HG01928.hp1 others(17): Show HG01099.hp2 HG01361.hp2 HG01928.hp1 HG02055.hp2 HG02083.hp2 HG02135.hp1 HG02258.hp1 HG02273.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03942.hp1 HG04184.hp2 NA18522.hp1 NA19063.hp2 NA20752.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0005 a0002c0007 others(1): Show a0001c0001 a0002c0005 a0002c0007 a0007c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0037 a0002c0005t0002 a0002c0005t0028 a0002c0007t0003 a0007c0011t0002	a0001c0001t0001g0055 a0001c0001t0006g0057 a0001c0001t0009g0045 others(17): Show a0001c0001t0001g0055 a0001c0001t0006g0057 a0001c0001t0009g0045 a0001c0001t0009g0056 a0001c0001t0037g0046 a0002c0005t0002g0044 a0002c0005t0002g0054 a0002c0005t0002g0059 a0002c0005t0002g0134 a0002c0005t0002g0138 a0002c0005t0002g0282 a0002c0005t0002g0283 a0002c0005t0028g0137 a0002c0007t0003g0051 a0002c0007t0003g0052 a0002c0007t0003g0053 a0002c0007t0003g0058 a0002c0007t0003g0135 a0002c0007t0003g0136 a0007c0011t0002g0049	20	346	0.0578	-40	c.305 others(55): Show c.305-943_305-904delTTGCCCCTGCCCCGATAACCATGCCCCTGC CCCGATAACC		OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	2/8						chr17	TogoVar
OIP5_chr15_41304273_41337591	41320813	CCCGCCAT others(33): Show CCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCGG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02015.hp1 NA18952.hp2 others(2): Show HG00597.hp1 HG02015.hp1 NA18952.hp2 NA18960.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0001g0141 a0001c0001t0001g0143	5	354	0.0141	-40	c.390 others(57): Show c.390-1073_390-1034delCCGGGAAGAGGCGCTCCTCACTTCCTAG ATGGGATGGCGG		OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding	2/4						chr15	TogoVar
OIP5_chr15_41304273_41337591	41321063	AGAAGTGA others(33): Show AGAAGTGAGGAGCCCCTCCGCCCGGCAGCCACCCCATCTGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp2 others(21): Show HG00140.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01975.hp2 HG02300.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp2 NA19060.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 others(10): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217	24	354	0.0678	-40	c.390 others(57): Show c.390-1323_390-1284delCCAGATGGGGTGGCTGCCGGGCGGAGGG GCTCCTCACTTC		OIP5	ENSG00000104147.9	transcript	ENST00000220514.8	protein_coding	2/4						chr15	TogoVar
OLA1_chr2_174067447_174253532	174163737	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02486.hp1 HG02559.hp1 others(9): Show HG00673.hp1 HG02486.hp1 HG02559.hp1 HG02723.hp1 HG02976.hp2 HG03195.hp2 NA18945.hp1 NA18956.hp2 NA19006.hp2 NA19030.hp1 NA19043.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0018 a0002c0002t0037	a0001c0001t0002g0140 a0001c0001t0002g0226 a0001c0001t0002g0228 others(9): Show a0001c0001t0002g0140 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0004g0111 a0001c0001t0005g0257 a0001c0001t0008g0027 a0001c0001t0008g0110 a0001c0001t0008g0259 a0001c0001t0018g0030 a0001c0001t0018g0031 a0002c0002t0037g0028	12	257	0.0467	-40	c.374 others(59): Show c.374-21777_374-21738delTTATATATATATATATATATATATAT ATATATATATATAT		OLA1	ENSG00000138430.16	transcript	ENST00000284719.8	protein_coding	4/10						chr2	TogoVar
OLFM1_chr9_135082668_135126180	135124495	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG04199.hp2 NA18941.hp1 others(3): Show HG02056.hp1 HG04199.hp2 NA18941.hp1 NA18947.hp1 NA18979.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 a0002c0010t0002	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 others(3): Show a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0013g0181 a0001c0002t0002g0240 a0002c0010t0002g0251	6	358	0.0168	-40	c.43 others(51): Show c.4318_*4357delGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAA		OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding					3316		chr9	TogoVar
OMP_chr11_77097840_77108331	77098914	AGGCTCCT others(33): Show AGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGGCGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG02886.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	438	0.0046	-40	c.-39 others(51): Show c.-3925_-3886delGGCTCCTCACTTCTCAGACGGGGCGGCTGCCGGG CGGAGG		OMP	ENSG00000254550.1	transcript	ENST00000529803.1	protein_coding					3925		chr11	TogoVar
OPA3_chr19_45541281_45589802	45572280	TATATATC others(33): Show TATATATCGATATATATCTCATATATATCGACATATATGAG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	396	0.0025	-40	c.142 others(59): Show c.142+12303_142+12342delCTCATATATGTCGATATATATGAGAT ATATATCGATATAT		OPA3	ENSG00000125741.6	transcript	ENST00000263275.5	protein_coding	1/1						chr19	TogoVar
OPCML_chr11_132409981_133537501	132523433	CAGAGAAG others(33): Show CAGAGAAGGCCCTTTCCCACCACTAGTTCTTATTTAGGACT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01109.hp1 others(14): Show HG00642.hp1 HG01071.hp1 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG02615.hp1 HG03041.hp1 HG03130.hp2 HG03209.hp2 HG04115.hp2 NA18906.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0030	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0028 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0032 a0001c0001t0003g0046 a0001c0001t0004g0018 a0001c0001t0005g0020 a0001c0001t0006g0005 a0001c0001t0006g0037 a0001c0001t0012g0063 a0001c0001t0030g0067	17	68	0.2500	-40	c.505 others(57): Show c.505+5588_505+5627delAGTCCTAAATAAGAACTAGTGGTGGGAA AGGGCCTTCTCT		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	4/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	132716390	TTATCTAT others(33): Show TTATCTATCTATCTATCTGTCTGTCTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG01978.hp1 others(7): Show HG01109.hp2 HG01884.hp2 HG01978.hp1 HG02145.hp2 HG02615.hp1 HG02976.hp2 HG03098.hp2 HG03453.hp2 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0034 a0001c0001t0002g0019 a0001c0001t0004g0027 others(7): Show a0001c0001t0001g0034 a0001c0001t0002g0019 a0001c0001t0004g0027 a0001c0001t0006g0037 a0001c0001t0012g0068 a0001c0001t0018g0008 a0001c0001t0019g0051 a0001c0001t0023g0039 a0001c0001t0026g0053 a0001c0001t0027g0055	10	42	0.2381	-40	c.147 others(59): Show c.147-59111_147-59072delGATAGATAGATAGATAGACAGACAGA TAGATAGATAGATA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	2/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133253813	TCCTTCCC others(33): Show TCCTTCCCTTCCCTTCCATTCCCTTCCCTTCCCTTCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01255.hp1 HG01255.hp2 others(13): Show HG01071.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG02809.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp2 HG04115.hp2 HG06807.hp1 NA18906.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0002g0022 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0004g0048 a0001c0001t0007g0040 a0001c0001t0008g0004 a0001c0001t0008g0010 a0001c0001t0010g0061 a0001c0001t0014g0017 a0001c0001t0016g0012 a0001c0001t0024g0021 a0001c0001t0028g0059 a0001c0001t0032g0065	16	65	0.2462	-40	c.61+ others(59): Show c.61+278411_61+278450delGAAGGGAAGGGAAGGGAAGGGAATGG AAGGGAAGGGAAGG		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133361548	GTCCGGGG others(33): Show GTCCGGGGCACCTGCAGCTACTCCGGGGCACCTGCAGCTAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA21309.hp1 HG01891.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0027 a0001c0001t0006g0045 a0001c0001t0004g0027 a0001c0001t0006g0045	2	63	0.0317	-40	c.61+ others(59): Show c.61+170676_61+170715delATAGCTGCAGGTGCCCCGGAGTAGCT GCAGGTGCCCCGGA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OR2AG1_chr11_6778020_6796558	6779190	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0001 a0001c0001t0098g0001	1	462	0.0022	-40	c.-43 others(51): Show c.-4301_-4262delTATATATATATATATATATATATATATATTTTTT TTTTTT		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3829		chr11	TogoVar
OR2AG1_chr11_6778020_6796558	6779194	ATATATAT others(33): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0003 a0001c0001t0027g0003	1	423	0.0024	-40	c.-42 others(51): Show c.-4297_-4258delTATATATATATATATATATATATATTTTTTTTTT TTTTTT		OR2AG1	ENSG00000279486.6	transcript	ENST00000641258.1	protein_coding					3825		chr11	TogoVar
OR2B11_chr1_247444182_247463104	247458373	GGGCTGGT others(33): Show GGGCTGGTGCGTGGTGTGTGTGTGTGTGTTGAACTCTTTAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG03540.hp2 others(1): Show HG02622.hp1 HG02717.hp1 HG03540.hp2 HG03579.hp1	a0003 a0005 a0012 a0003 a0005 a0012	a0003c0004 a0005c0036 a0012c0022 a0003c0004 a0005c0036 a0012c0022	a0003c0004t0081 a0005c0036t0080 a0012c0022t0032 a0003c0004t0081 a0005c0036t0080 a0012c0022t0032	a0003c0004t0081g0098 a0005c0036t0080g0097 a0012c0022t0032g0041 a0003c0004t0081g0098 a0005c0036t0080g0097 a0012c0022t0032g0041	4	476	0.0084	-40	c.-38 others(51): Show c.-3857_-3818delTTAAAGAGTTCAACACACACACACACACCACGCA CCAGCC		OR2B11	ENSG00000177535.10	transcript	ENST00000641149.2	protein_coding					270		chr1	TogoVar
OR3A2_chr17_3271177_3391308	3371992	TGGCTGCC others(33): Show TGGCTGCCGGGCAGAGGGGCTCCTCACTTCTCATACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(120): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18956.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp2 NA19079.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0008 a0010 a0013 a0014	a0001c0001 a0001c0003 a0002c0002 others(5): Show a0001c0001 a0001c0003 a0002c0002 a0005c0006 a0008c0010 a0010c0014 a0013c0015 a0014c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0003t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0013 a0002c0002t0018 a0002c0002t0029 a0002c0002t0036 a0005c0006t0011 a0008c0010t0002 a0010c0014t0002 a0013c0015t0023 a0014c0017t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 others(117): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0092 a0001c0001t0003g0310 a0001c0001t0010g0005 a0001c0001t0010g0296 a0001c0001t0010g0297 a0001c0001t0017g0063 a0001c0001t0017g0064 a0001c0001t0021g0034 a0001c0001t0022g0055 a0001c0001t0025g0025 a0001c0003t0002g0051 a0002c0002t0004g0283 a0002c0002t0004g0284 a0002c0002t0004g0285 a0002c0002t0004g0289 a0002c0002t0004g0293 a0002c0002t0004g0294 a0002c0002t0004g0295 a0002c0002t0004g0298 a0002c0002t0004g0299 a0002c0002t0004g0300 a0002c0002t0004g0301 a0002c0002t0004g0303 a0002c0002t0004g0304 a0002c0002t0004g0305 a0002c0002t0004g0306 a0002c0002t0004g0307 a0002c0002t0004g0308 a0002c0002t0004g0309 a0002c0002t0004g0312 a0002c0002t0004g0313 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0005g0220 a0002c0002t0005g0221 a0002c0002t0005g0222 a0002c0002t0005g0223 a0002c0002t0005g0224 a0002c0002t0005g0225 a0002c0002t0005g0226 a0002c0002t0005g0227 a0002c0002t0005g0228 a0002c0002t0005g0229 a0002c0002t0005g0230 a0002c0002t0006g0217 a0002c0002t0007g0282 a0002c0002t0007g0286 a0002c0002t0007g0287 a0002c0002t0007g0288 a0002c0002t0007g0290 a0002c0002t0007g0291 a0002c0002t0007g0302 a0002c0002t0013g0094 a0002c0002t0013g0095 a0002c0002t0013g0096 a0002c0002t0018g0068 a0002c0002t0018g0083 a0002c0002t0029g0050 a0002c0002t0036g0292 a0005c0006t0011g0097 a0005c0006t0011g0098 a0005c0006t0011g0099 a0005c0006t0011g0100 a0008c0010t0002g0027 a0008c0010t0002g0029 a0010c0014t0002g0058 a0013c0015t0023g0093 a0014c0017t0002g0015	123	316	0.3892	-40	c.-37 others(61): Show c.-377+14093_-377+14132delGCCCCGTATGAGAAGTGAGGAGCC CCTCTGCCCGGCAGCC		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	1/4						chr17	TogoVar
OR4E2_chr14_21648835_21672642	21657475	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0017 a0005c0009t0017	a0005c0009t0017g0272 a0005c0009t0017g0272	1	456	0.0022	-40	c.-10 others(57): Show c.-103+887_-103+926delCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCTTTG		OR4E2	ENSG00000221977.3	transcript	ENST00000641524.1	protein_coding	2/3						chr14	TogoVar
OR5D14_chr11_55790556_55801500	55800391	TGGTGATG others(33): Show TGGTGATGAAATAATCTGTTAATGCCTAGGCTTAATGCCTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01192.hp2 others(9): Show HG00735.hp1 HG01099.hp2 HG01192.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG02129.hp1 HG02148.hp1 HG02273.hp1 NA18965.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	12	444	0.0270	-40	c.38 others(51): Show c.3892_*3931delGGTGATGAAATAATCTGTTAATGCCTAGGCTTAA TGCCTG		OR5D14	ENSG00000186113.1	transcript	ENST00000335605.1	protein_coding					3892		chr11	TogoVar

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