Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
MYO1F_chr19_8515778_8582442	8574592	TCTCTCTT others(55): Show TCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp1 HG02148.hp2 others(8): Show HG00544.hp2 HG00738.hp1 HG02148.hp2 HG04199.hp1 NA18944.hp1 NA18950.hp2 NA18981.hp1 NA19060.hp1 NA19065.hp1 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 others(8): Show a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0335 a0001c0001t0002g0141 a0001c0001t0002g0242 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0003g0243 a0001c0001t0006g0333 a0001c0001t0014g0004	11	342	0.0322	-62	c.3+2 others(75): Show c.3+2653_3+2714delGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAGAG		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27						chr19	TogoVar
MYZAP_chr15_57586904_57690364	57687500	TGTGTGTA others(55): Show TGTGTGTACAATATACACATATATATGTGTGTACAATATACACATATATA TGTGTGTACAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02109.hp2 others(8): Show HG01257.hp1 HG01258.hp2 HG02109.hp2 HG02602.hp2 HG03195.hp2 HG03654.hp2 HG03710.hp2 HG04199.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0007 a0001c0003t0004 a0002c0002t0002 others(2): Show a0001c0001t0007 a0001c0003t0004 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018	a0001c0001t0007g0244 a0001c0003t0004g0112 a0002c0002t0002g0001 others(7): Show a0001c0001t0007g0244 a0001c0003t0004g0112 a0002c0002t0002g0001 a0002c0002t0002g0022 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0050 a0002c0002t0002g0096 a0002c0002t0003g0125 a0002c0002t0018g0016	11	352	0.0313	-62	c.30 others(73): Show c.3003_*3064delGTGTGTACAATATACACATATATATGTGTGTACA ATATACACATATATATGTGTGTACAATA		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2137		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688221	ATACACAT others(55): Show ATACACATATATATGTGTGTACAATATACACATATATTATGTGTGTACAA TATACACATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	352	0.0028	-62	c.37 others(73): Show c.3724_*3785delTACACATATATATGTGTGTACAATATACACATAT ATTATGTGTGTACAATATACACATATAT		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					2858		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688556	CTATATAT others(55): Show CTATATATACTCTATATGTGTACAATGTGCACATATATACTCTATATGTG TACAATGTGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(58): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01257.hp2 HG01346.hp2 HG01928.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp2 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02135.hp1 HG02300.hp2 HG02523.hp1 HG02683.hp1 HG02738.hp2 HG02970.hp1 HG03017.hp1 HG03453.hp2 HG03492.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18965.hp1 NA18975.hp1 NA18980.hp2 NA18984.hp1 NA18986.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp2 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19083.hp1 NA19083.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0003t0003 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0011 a0002c0002t0012	a0001c0001t0001g0008 a0001c0001t0001g0158 a0001c0001t0001g0184 others(56): Show a0001c0001t0001g0008 a0001c0001t0001g0158 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0283 a0001c0001t0004g0276 a0001c0003t0002g0011 a0001c0003t0002g0079 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0003g0138 a0001c0003t0003g0139 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0039 a0002c0002t0002g0049 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0081 a0002c0002t0002g0087 a0002c0002t0002g0097 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0103 a0002c0002t0004g0220 a0002c0002t0005g0060 a0002c0002t0005g0063 a0002c0002t0005g0070 a0002c0002t0011g0073 a0002c0002t0012g0089	61	352	0.1733	-62	c.40 others(73): Show c.4059_*4120delTATATATACTCTATATGTGTACAATGTGCACATA TATACTCTATATGTGTACAATGTGCACA		MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding					3193		chr15	TogoVar
NCAPD2_chr12_6489102_6536955	6504170	CATATATA others(55): Show CATATATATATACATATATATATATATATATATATATATATATATATAGA TATAGATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp2 others(84): Show HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19091.hp2 NA20805.hp2 NA21309.hp2	a0003 a0006 a0010 a0003 a0006 a0010	a0003c0003 a0003c0010 a0003c0015 others(2): Show a0003c0003 a0003c0010 a0003c0015 a0006c0008 a0010c0017	a0003c0003t0003 a0003c0003t0013 a0003c0003t0014 others(4): Show a0003c0003t0003 a0003c0003t0013 a0003c0003t0014 a0003c0010t0001 a0003c0015t0003 a0006c0008t0003 a0010c0017t0003	a0003c0003t0003g0001 a0003c0003t0003g0007 a0003c0003t0003g0008 others(78): Show a0003c0003t0003g0001 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0023 a0003c0003t0003g0024 a0003c0003t0003g0025 a0003c0003t0003g0026 a0003c0003t0003g0027 a0003c0003t0003g0028 a0003c0003t0003g0029 a0003c0003t0003g0030 a0003c0003t0003g0031 a0003c0003t0003g0032 a0003c0003t0003g0033 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0039 a0003c0003t0003g0041 a0003c0003t0003g0043 a0003c0003t0003g0044 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0050 a0003c0003t0003g0052 a0003c0003t0003g0053 a0003c0003t0003g0054 a0003c0003t0003g0055 a0003c0003t0003g0057 a0003c0003t0003g0058 a0003c0003t0003g0059 a0003c0003t0003g0061 a0003c0003t0003g0063 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0068 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0076 a0003c0003t0003g0077 a0003c0003t0003g0078 a0003c0003t0003g0079 a0003c0003t0003g0081 a0003c0003t0003g0082 a0003c0003t0003g0083 a0003c0003t0003g0086 a0003c0003t0003g0090 a0003c0003t0003g0091 a0003c0003t0003g0092 a0003c0003t0003g0093 a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0003t0003g0096 a0003c0003t0003g0098 a0003c0003t0003g0099 a0003c0003t0013g0080 a0003c0003t0013g0097 a0003c0003t0014g0075 a0003c0003t0014g0089 a0003c0010t0001g0047 a0003c0010t0001g0073 a0003c0010t0001g0074 a0003c0010t0001g0087 a0003c0010t0001g0088 a0003c0015t0003g0084 a0003c0015t0003g0085 a0006c0008t0003g0002 a0006c0008t0003g0040 a0006c0008t0003g0042 a0006c0008t0003g0051 a0006c0008t0003g0060 a0006c0008t0003g0069 a0010c0017t0003g0056 a0010c0017t0003g0062	87	432	0.2014	-62	c.128 others(79): Show c.128-5534_128-5473delATATATATATATATATATATATATATAT ATATATAGATATAGATATATATATATATATATAC		NCAPD2	ENSG00000010292.13	transcript	ENST00000315579.10	protein_coding	2/31					INFO_REALIGN_3_PRIME	chr12	TogoVar
NCBP2L_chrX_107772733_107800829	107782214	TATATATA others(55): Show TATATATAAATATATATATATAAATATATATATATAAATATATATATAAA TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0034 a0001c0002t0002g0034	1	303	0.0033	-62	c.-73 others(79): Show c.-73+4364_-73+4425delAATATATATATATAAATATATATATATA AATATATATATAAATATATATATATAAATATATA		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCBP2L_chrX_107772733_107800829	107782264	TATATATA others(55): Show TATATATATATAAATATATATAAATATATATATATAAATATATATATAAA TATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0088 a0001c0002t0009g0088	1	303	0.0033	-62	c.-73 others(79): Show c.-73+4428_-73+4489delAATATATATATATAAATATATATATAAA TATATATATATAAATATATATATAAATATATATA		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCOA6_chr20_34709774_34830651	34817150	AGCAAAAG others(55): Show AGCAAAAGAAAATGTATATAAATGGGTACTACGGAACTGATATTCAACAG ATTCAATATCAGT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA20752.hp1 HG01123.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	290	0.0069	-62	c.-16 others(81): Show c.-164+8260_-164+8321delACTGATATTGAATCTGTTGAATATCA GTTCCGTAGTACCCATTTATATACATTTTCTTTTGC		NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	1/14						chr20	TogoVar
NDST3_chr4_118029486_118263634	118066886	TATATATA others(55): Show TATATATACATTATATATAACATGTTATATATTATATATACATTATATAT AACATGTTATATA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	216	0.0046	-62	c.981 others(81): Show c.981+11996_981+12057delATATATACATTATATATAACATGTTA TATATTATATATACATTATATATAACATGTTATATA		NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13						chr4	TogoVar
NDST4_chr4_114822763_115118620	114970127	ACTATTTT others(55): Show ACTATTTTTTCATCTTCATAGATACAAGAGTAGTCATCTCGTAAAATAGG AGTTGAAAGCTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02895.hp2 others(3): Show HG02055.hp2 HG02109.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0002c0007	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0002c0007t0001	a0001c0002t0001g0165 a0001c0004t0001g0090 a0001c0004t0001g0095 others(3): Show a0001c0002t0001g0165 a0001c0004t0001g0090 a0001c0004t0001g0095 a0001c0005t0001g0084 a0001c0005t0001g0085 a0002c0007t0001g0158	6	190	0.0316	-62	c.122 others(79): Show c.1221+241_1221+302delAAAGCTTTCAACTCCTATTTTACGAGAT GACTACTCTTGTATCTATGAAGATGAAAAAATAG		NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	4/13						chr4	TogoVar
NDUFB11_chrX_47137216_47149702	47148585	TATGTATC others(55): Show TATGTATCCTTCTATGATACATATCATAGAAAATGTATCCTTCTATGATA CATATCATAGAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(87): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp1 HG02738.hp1 HG03041.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03927.hp1 HG04184.hp2 NA18612.hp1 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp1 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19089.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0003c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0002g0069 a0001c0001t0003g0070 a0003c0005t0001g0067	90	274	0.3285	-62	c.-39 others(73): Show c.-3968_-3907delTTTCTATGATATGTATCATAGAAGGATACATTTT CTATGATATGTATCATAGAAGGATACAT		NDUFB11	ENSG00000147123.12	transcript	ENST00000377811.4	protein_coding					3884		chrX	TogoVar
NEU4_chr2_241804193_241822413	241805565	CCTCAGCC others(55): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GAACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	319	0.0031	-62	c.-37 others(73): Show c.-3712_-3651delCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3627		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806159	CCCCCCTC others(55): Show CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAG GAACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01255.hp2 others(2): Show HG00741.hp1 HG01109.hp1 HG01255.hp2 HG02300.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0132 a0001c0001t0003g0185 a0001c0001t0003g0191 others(2): Show a0001c0001t0001g0132 a0001c0001t0003g0185 a0001c0001t0003g0191 a0001c0002t0001g0187 a0001c0004t0001g0156	5	319	0.0157	-62	c.-31 others(73): Show c.-3118_-3057delCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCCCCTCAGCCCAGGAACCTCCGCAGG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3033		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808018	CCCCCCTC others(55): Show CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAG GGACCTCGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG01169.hp2 others(7): Show HG00733.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp2 HG01934.hp2 HG02683.hp1 HG03041.hp1 HG03239.hp2 HG03688.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0015 others(1): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003	a0001c0001t0003 a0001c0002t0001 a0001c0015t0001 others(1): Show a0001c0001t0003 a0001c0002t0001 a0001c0015t0001 a0002c0003t0002	a0001c0001t0003g0181 a0001c0002t0001g0122 a0001c0015t0001g0052 others(5): Show a0001c0001t0003g0181 a0001c0002t0001g0122 a0001c0015t0001g0052 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0175	10	319	0.0314	-62	c.-12 others(73): Show c.-1259_-1198delCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCT CCCCTCTTAGCCCAGGGACCTCGGCAGG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1174		chr2	TogoVar
NGB_chr14_77260483_77276206	77269721	TCTCTCTT others(55): Show TCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19056.hp2 NA18964.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0228 a0001c0001t0001g0206 a0001c0001t0001g0228	2	366	0.0055	-62	c.90- others(75): Show c.90-457_90-396delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAAGAGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NHEJ1_chr2_219064357_219165815	219159514	TATATATA others(55): Show TATATATATATGCATATATATATGCATATATATATATGCATATATATATG CATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0156 a0001c0001t0038g0156	1	350	0.0029	-62	c.-1+ others(76): Show c.-1+1144_1-1153delGCATATATATATGCATATATATATGCATATA TATATATGCATATATATATGCATATATATAT		NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7						chr2	TogoVar
NINJ2_chr12_559296_668445	590658	TGGCTGAT others(55): Show TGGCTGATGCTTACAGCTGATCAGAACCCAGGACACTAGCACTTACTATC AAGGTTATAGGGA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02056.hp2 HG02074.hp2 others(12): Show HG00673.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 NA18943.hp2 NA18953.hp2 NA18960.hp2 NA18963.hp1 NA18988.hp1 NA19004.hp1 NA19012.hp2 NA19057.hp1 NA19085.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0141 a0001c0001t0001g0142 others(12): Show a0001c0001t0001g0069 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0185 a0003c0002t0001g0163	15	404	0.0371	-62	c.34- others(79): Show c.34-24542_34-24481delTCCCTATAACCTTGATAGTAAGTGCTAG TGTCCTGGGTTCTGATCAGCTGTAAGCATCAGCC		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NINJ2_chr12_559296_668445	590902	AGGGAGGC others(55): Show AGGGAGGCTGATGCTTACAGCTGATCAGAACCCAGGACACTAGCACTTAC TATCAAGGTTACT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp2 HG02622.hp1 others(5): Show HG01106.hp2 HG01884.hp2 HG02622.hp1 HG02922.hp1 HG02970.hp1 HG03195.hp2 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0368 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0368 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0126 a0001c0001t0002g0362 a0001c0001t0002g0385	8	404	0.0198	-62	c.34- others(79): Show c.34-24786_34-24725delAGTAACCTTGATAGTAAGTGCTAGTGTC CTGGGTTCTGATCAGCTGTAAGCATCAGCCTCCC		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NME7_chr1_169127531_169372797	169355144	AATATACT others(55): Show AATATACTATATATTATAGATATAATATATAATATACTATATATTATAGA TATAATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp1 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0225 a0001c0001t0002g0226	2	302	0.0066	-62	c.3+1 others(77): Show c.3+12502_3+12563delATTATATATTATATCTATAATATATAGTAT ATTATATATTATATCTATAATATATAGTATAT		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NOP14_chr4_2932936_2968406	2960676	TTATATTA others(55): Show TTATATTAATATTATAATCACATTAATATTAATATATTAATATTATAATC ACATTAATATTAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01975.hp2 HG02698.hp2 others(1): Show HG00673.hp1 HG01975.hp2 HG02698.hp2 NA18995.hp1	a0001 a0022 a0001 a0022	a0001c0001 a0022c0029 a0001c0001 a0022c0029	a0001c0001t0001 a0001c0001t0005 a0022c0029t0001 a0001c0001t0001 a0001c0001t0005 a0022c0029t0001	a0001c0001t0001g0100 a0001c0001t0001g0162 a0001c0001t0005g0161 others(1): Show a0001c0001t0001g0100 a0001c0001t0001g0162 a0001c0001t0005g0161 a0022c0029t0001g0099	4	422	0.0095	-62	c.195 others(79): Show c.195+2387_195+2448delTTAATATTAATGTGATTATAATATTAAT ATATTAATATTAATGTGATTATAATATTAATATA		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
NOX4_chr11_89319353_89496375	89486635	TATATATG others(55): Show TATATATGTGTGTATATATGTGTATATATACATATATATGTGTGTATATA TGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01074.hp2 others(17): Show HG00642.hp1 HG00741.hp1 HG01074.hp2 HG02258.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0001t0037 a0001c0001t0048 a0001c0001t0049 a0001c0001t0079 a0001c0001t0085 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0002t0009 a0001c0002t0029 a0001c0008t0002 a0002c0004t0032	a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0283 others(17): Show a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0283 a0001c0001t0003g0170 a0001c0001t0012g0273 a0001c0001t0017g0171 a0001c0001t0017g0172 a0001c0001t0037g0280 a0001c0001t0048g0044 a0001c0001t0049g0043 a0001c0001t0079g0169 a0001c0001t0085g0179 a0001c0001t0109g0281 a0001c0001t0110g0274 a0001c0001t0111g0277 a0001c0001t0112g0282 a0001c0002t0009g0278 a0001c0002t0029g0168 a0001c0008t0002g0275 a0002c0004t0032g0144	20	288	0.0694	-62	c.153 others(79): Show c.153+3761_153+3822delGTATATATACACATATATACACACATAT ATATGTATATATACACATATATACACACATATAT		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17						chr11	TogoVar
NPIPB9_chr16_28746787_28777864	28772384	CCCTCTCC others(55): Show CCCTCTCCTCTTCCACCCTCAGTGGATGATAATCTGAAGGAATGTCTCTT TGTCCCGCTTCCA	C C	frameshift_variant frameshift_variant	HIGH	NA18948.hp2 NA18948.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0001 a0017c0027t0001g0001	1	179	0.0056	-62	c.931 others(69): Show c.931_992delTCTCCTCTTCCACCCTCAGTGGATGATAATCTGAAGGA ATGTCTCTTTGTCCCGCTTCCACC	p.Ser others(5): Show p.Ser311fs	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding	7/7	1617/2094	931/1299	311/432		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRCAM_chr7_108142649_108461436	108163768	AGGTGGGG others(55): Show AGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAATG AGAGGTCATACCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	208	0.0048	-62	c.346 others(81): Show c.3466+3091_3466+3152delCGGTATGACCTCTCATTACCGCCACC CCACCCGGTATGACCTCTCATTACCGCCACCCCACC		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163798	CGGGTGGG others(55): Show CGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAAT GAGAGGTCATACT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19240.hp1 NA19043.hp1 NA19240.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0039 a0002c0007t0002g0189 a0002c0007t0002g0039 a0002c0007t0002g0189	2	208	0.0096	-62	c.346 others(81): Show c.3466+3061_3466+3122delAGTATGACCTCTCATTACCGCCACCC CACCCGGTATGACCTCTCATTACCGCCACCCCACCC		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163871	GCGGTAAT others(55): Show GCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0013 a0002c0008t0013	a0002c0008t0013g0184 a0002c0008t0013g0184	1	208	0.0048	-62	c.346 others(81): Show c.3466+2988_3466+3049delGCCACCCCACCCGGTATGACCTCTCA CTACCCCACCCCACCCGGTATGACCTCTCATTACCG		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163993	GCGGTAAT others(55): Show GCGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0013 a0002c0008t0013	a0002c0008t0013g0172 a0002c0008t0013g0172	1	208	0.0048	-62	c.346 others(81): Show c.3466+2866_3466+2927delGCCACCCCACCCGGTATGACCTCTCA CTACCCCACCCCACCTGGTATGACCTCTCATTACCG		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NRG1_chr8_32543311_32779046	32609569	TCCTTCCT others(55): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTTCCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0092 a0004c0005t0092	a0004c0005t0092g0113 a0004c0005t0092g0113	1	244	0.0041	-62	c.400 others(79): Show c.400+3890_400+3951delTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTTCCCTCCCTCCCT		NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr8	TogoVar
NRIP3_chr11_8975576_9009001	9001722	AAGAGAGT others(55): Show AAGAGAGTTTAAGCATGCTGCCTCACCCCAGCGCTTGCGGCTCTCCTAGC CCTACCTCGGTCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG02572.hp1 others(5): Show HG01884.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02970.hp1 HG03130.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0048 a0001c0001t0009g0205 others(2): Show a0001c0001t0009g0019 a0001c0001t0009g0048 a0001c0001t0009g0205 a0001c0001t0009g0224 a0001c0001t0009g0225	8	406	0.0197	-62	c.174 others(79): Show c.174+1978_174+2039delAGACCGAGGTAGGGCTAGGAGAGCCGCA AGCGCTGGGGTGAGGCAGCATGCTTAAACTCTCT		NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding	1/6						chr11	TogoVar
NSDHL_chrX_152826063_152874729	152872643	GGTGTGTT others(55): Show GGTGTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGTGGGTGTGGGTGTGTG TGTTTGTGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	324	0.0031	-62	c.35 others(73): Show c.3528_*3589delGTGTGTTTGTGGGTGTGCGGGTGTGTGTGTGGGT GGGTGTGGGTGTGTGTGTTTGTGGGTGT		NSDHL	ENSG00000147383.11	transcript	ENST00000370274.8	protein_coding					2915		chrX	TogoVar
NXN_chr17_794310_984776	952304	GGGGGGCT others(55): Show GGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0016 a0001c0002t0004g0016	1	242	0.0041	-62	c.360 others(81): Show c.360+26953_360+27014delACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXPE4_chr11_114565591_114600786	114577013	ATATATAT others(55): Show ATATATATATATATACATATATATATATAAAGTTATATATATATACATAT ATATATATAAAGT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19088.hp1 NA19240.hp2 HG04184.hp1 NA19088.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0018 a0001c0001 a0003c0018	a0001c0001t0001 a0003c0018t0002 a0001c0001t0001 a0003c0018t0002	a0001c0001t0001g0113 a0001c0001t0001g0195 a0003c0018t0002g0103 a0001c0001t0001g0113 a0001c0001t0001g0195 a0003c0018t0002g0103	3	432	0.0069	-62	c.109 others(81): Show c.1099+3057_1099+3118delACTTTATATATATATATGTATATATA TATAACTTTATATATATATATGTATATATATATATA		NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	5/5						chr11	TogoVar
OGFR_chr20_62799835_62819000	62815870	TAATTTTT others(55): Show TAATTTTTGGTAGACATGAGGCCTCCCTCTGTCTCCAAGCTGGCCACGCC CGGCCGATGTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	1	422	0.0024	-62	c.22 others(73): Show c.2222_*2283delAATTTTTGGTAGACATGAGGCCTCCCTCTGTCTC CAAGCTGGCCACGCCCGGCCGATGTTTC		OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding					1871		chr20	TogoVar
OGN_chr9_92378268_92409578	92380487	TCAGATTC others(55): Show TCAGATTCTCTCAAAAGCCTAACCAGATCATGAATATTGTTTTTAGGACT TGTACTAACTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01943.hp1 others(1): Show HG01515.hp2 HG01517.hp2 HG01943.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0039 a0001c0001t0002g0140 a0001c0001t0002g0141	4	366	0.0109	-62	c.50 others(73): Show c.5071_*5132delGAGAGTTAGTACAAGTCCTAAAAACAATATTCAT GATCTGGTTAGGCTTTTGAGAGAATCTG		OGN	ENSG00000106809.11	transcript	ENST00000375561.10	protein_coding					2780		chr9	TogoVar
OPCML_chr11_132409981_133537501	133055261	GGTGAGAC others(55): Show GGTGAGACCCCATGAGGGAGCCACCTCTATCATACAATGCAGCCTCCATG ATACTTCCAAGTA	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0041 a0001c0001t0013g0041	1	68	0.0147	-62	c.62- others(81): Show c.62-112313_62-112252delTACTTGGAAGTATCATGGAGGCTGCA TTGTATGATAGAGGTGGCTCCCTCATGGGGTCTCAC		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPCML_chr11_132409981_133537501	133458236	GTATATAT others(55): Show GTATATATACACATATATATACACGTGTGTGTATATATACACACATATAT ACACGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	68	0.0147	-62	c.61+ others(79): Show c.61+73966_61+74027delTACACACACGTGTATATATGTGTGTATA TATACACACACGTGTATATATATGTGTATATATA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OSBPL10_chr3_31655825_31986262	31812756	AAGAAAGA others(55): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00642.hp2 others(13): Show HG00558.hp1 HG00642.hp1 HG00642.hp2 HG01123.hp1 HG01258.hp2 HG01516.hp2 HG02055.hp1 HG02486.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18940.hp1 NA18940.hp2 NA18950.hp2 NA18983.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0002c0003 a0002c0004 a0002c0005 a0002c0012 a0003c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0006t0002 a0001c0010t0001 a0002c0003t0001 a0002c0004t0001 a0002c0005t0002 a0002c0005t0007 a0002c0012t0003 a0003c0011t0005	a0001c0001t0001g0053 a0001c0001t0001g0093 a0001c0002t0001g0051 others(13): Show a0001c0001t0001g0053 a0001c0001t0001g0093 a0001c0002t0001g0051 a0001c0002t0001g0137 a0001c0002t0008g0139 a0001c0006t0002g0056 a0001c0010t0001g0102 a0002c0003t0001g0043 a0002c0003t0001g0101 a0002c0004t0001g0069 a0002c0004t0001g0118 a0002c0004t0001g0120 a0002c0005t0002g0039 a0002c0005t0007g0164 a0002c0012t0003g0177 a0003c0011t0005g0162	16	186	0.0860	-62	c.729 others(81): Show c.729+17222_729+17283delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31812785	AGAAAGAA others(55): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAAGAAAGAAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp2 HG03209.hp1 HG02723.hp2 HG02895.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0008 a0001c0001 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0006t0002 a0003c0008t0002 a0001c0001t0001 a0001c0006t0002 a0003c0008t0002	a0001c0001t0001g0019 a0001c0006t0002g0017 a0003c0008t0002g0005 a0001c0001t0001g0019 a0001c0006t0002g0017 a0003c0008t0002g0005	3	186	0.0161	-62	c.729 others(81): Show c.729+17193_729+17254delGTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11						chr3	TogoVar
OTUD7A_chr15_31470398_31875673	31511212	AACACACA others(55): Show AACACACATACATATGTATATCTATATGTAACACACATACATATGTATAT CTATATGTAACAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp1 HG03834.hp2 HG03130.hp1 HG03453.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0011 a0002c0003t0009 a0001c0001t0007 a0001c0001t0011 a0002c0003t0009	a0001c0001t0007g0008 a0001c0001t0011g0044 a0002c0003t0009g0002 a0001c0001t0007g0008 a0001c0001t0011g0044 a0002c0003t0009g0002	3	244	0.0123	-62	c.894 others(79): Show c.894-7456_894-7395delGTGTTACATATAGATATACATATGTATG TGTGTTACATATAGATATACATATGTATGTGTGT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511216	CACATACA others(55): Show CACATACATATGTATATCTATATGTAACACACATACATATGTATATCTAT ATGTAACACACAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA18906.hp1 HG04115.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0066 a0002c0003t0003 a0001c0001t0066 a0002c0003t0003	a0001c0001t0066g0018 a0002c0003t0003g0076 a0001c0001t0066g0018 a0002c0003t0003g0076	2	244	0.0082	-62	c.894 others(79): Show c.894-7460_894-7399delATGTGTGTTACATATAGATATACATATG TATGTGTGTTACATATAGATATACATATGTATGT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OXSR1_chr3_38160537_38260484	38161638	CATATGTC others(55): Show CATATGTCATATATTATGTATATTTCATATACATGTCATATATTATGTAT ATTTCATATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03516.hp1 HG02717.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0205 a0002c0002t0002g0207	2	248	0.0081	-62	c.-42 others(73): Show c.-4238_-4177delATATGTCATATATTATGTATATTTCATATACATG TCATATATTATGTATATTTCATATACAT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3898		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38161669	CATGTCAT others(55): Show CATGTCATATATTATGTATATTTCATATACATATGTCATATATTATGTAT ATTTCATATACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02056.hp1 HG01433.hp1 HG02056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0167 a0002c0002t0002g0228 a0001c0001t0003g0167 a0002c0002t0002g0228	2	248	0.0081	-62	c.-42 others(73): Show c.-4207_-4146delATGTCATATATTATGTATATTTCATATACATATG TCATATATTATGTATATTTCATATACAT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3867		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38161889	GTCATATA others(55): Show GTCATATATTATGTATATTTCATATACATATGTCATATATTATGTATATT TCATATACATATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG03492.hp1 HG02970.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0091 a0002c0002t0001g0013 a0001c0001t0001g0091 a0002c0002t0001g0013	2	248	0.0081	-62	c.-39 others(73): Show c.-3987_-3926delTCATATATTATGTATATTTCATATACATATGTCA TATATTATGTATATTTCATATACATATT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3647		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38161920	GTCATATA others(55): Show GTCATATATTATGTATATTTCATATACATATTTCATATATTATGTATATT TCATATACATATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	248	0.0040	-62	c.-39 others(73): Show c.-3956_-3895delTCATATATTATGTATATTTCATATACATATTTCA TATATTATGTATATTTCATATACATATT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3616		chr3	TogoVar
OXSR1_chr3_38160537_38260484	38162027	ATATTTCA others(55): Show ATATTTCATATACATATTTCATATATTATGTAATTTCATATACATATTTC ATATATTATGTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	248	0.0040	-62	c.-38 others(73): Show c.-3849_-3788delTATTTCATATACATATTTCATATATTATGTAATT TCATATACATATTTCATATATTATGTAT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3509		chr3	TogoVar
P2RX2_chr12_132613776_132627388	132620867	TGGGACTG others(55): Show TGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGACCCC CTTCCCTGGCCTG	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	386	0.0026	-62	c.775 others(76): Show c.775-131_775-70delGACTGACCCGGGCTCTCGAGGGGCCTCTCGT GTGCCCTTGTGACCCCCTTCCCTGGCCTGGG		P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
PALLD_chr4_168492052_168933441	168589536	CCAACCCC others(55): Show CCAACCCCCACCACCAAAAACTATAGATCTACTGCTGAGTCAATTTCTTC ACATTTGAAAGCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01952.hp1 others(5): Show HG00280.hp1 HG00642.hp1 HG01952.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG02922.hp1 HG03669.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0007 a0002c0015 others(1): Show a0001c0001 a0002c0007 a0002c0015 a0004c0009	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0002c0007t0014 a0002c0015t0016 a0004c0009t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0004g0002 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0004g0002 a0001c0001t0008g0006 a0001c0001t0008g0008 a0002c0007t0014g0030 a0002c0015t0016g0035 a0004c0009t0003g0040	8	156	0.0513	-62	c.908 others(81): Show c.908+77128_908+77189delCCCCCACCACCAAAAACTATAGATCT ACTGCTGAGTCAATTTCTTCACATTTGAAAGCTCAA		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793137	ACATATAT others(55): Show ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0021 a0001c0004t0018g0021	1	156	0.0064	-62	c.196 others(83): Show c.1964+81224_1964+81285delGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATAT		PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21					INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110035780	CATATATA others(55): Show CATATATAGGATATGTTGTGTGTTATATGTAACATATATATGATATGTTG TGTGTTATATATA	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0017 a0001c0001t0010g0018 a0001c0001t0010g0017 a0001c0001t0010g0018	2	222	0.0090	-62	c.582 others(81): Show c.582+19749_582+19810delGGATATGTTGTGTGTTATATGTAACA TATATATGATATGTTGTGTGTTATATATAATATATA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99683026	AAGAAAGA others(55): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG01123.hp1 others(19): Show HG00323.hp1 HG01099.hp2 HG01123.hp1 HG01346.hp1 HG01943.hp1 HG01981.hp1 HG02055.hp2 HG02109.hp2 HG02300.hp1 HG02572.hp2 HG02630.hp1 HG02717.hp1 HG03239.hp1 HG03540.hp2 HG03710.hp1 NA18942.hp1 NA18975.hp1 NA18980.hp1 NA19000.hp1 NA19030.hp1 NA19056.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0004c0006t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 others(19): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0117 a0001c0001t0001g0152 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0213 a0001c0001t0001g0250 a0001c0001t0001g0293 a0001c0001t0001g0321 a0001c0001t0001g0342 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0363 a0001c0001t0001g0370 a0001c0001t0004g0158 a0001c0001t0006g0157 a0004c0006t0001g0310	22	380	0.0579	-62	c.252 others(79): Show c.252-3618_252-3557delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99683074	GAGAGAGA others(55): Show GAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0081 a0002c0003t0001g0081	1	380	0.0026	-62	c.252 others(79): Show c.252-3598_252-3537delGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr1	TogoVar

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