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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MXRA5_chrX_3303565_3351652	3340038	AGTCTTTT others(67): Show AGTCTTTTAATAGAGGGAAAAAAATACTTAAGAGTCTGTAAATCCATCTC TAGGTGGATGCTATGTTGTTGGTTC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02717.hp1 others(10): Show HG02258.hp1 HG02280.hp1 HG02717.hp1 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1	a0002 a0003 a0005 others(5): Show a0002 a0003 a0005 a0006 a0008 a0017 a0021 a0022	a0002c0002 a0003c0003 a0005c0005 others(6): Show a0002c0002 a0003c0003 a0005c0005 a0006c0008 a0006c0011 a0008c0013 a0017c0023 a0021c0018 a0022c0019	a0002c0002t0001 a0003c0003t0001 a0005c0005t0002 others(6): Show a0002c0002t0001 a0003c0003t0001 a0005c0005t0002 a0006c0008t0003 a0006c0011t0002 a0008c0013t0002 a0017c0023t0002 a0021c0018t0007 a0022c0019t0001	a0002c0002t0001g0003 a0002c0002t0001g0132 a0003c0003t0001g0140 others(8): Show a0002c0002t0001g0003 a0002c0002t0001g0132 a0003c0003t0001g0140 a0005c0005t0002g0135 a0006c0008t0003g0142 a0006c0011t0002g0128 a0006c0011t0002g0131 a0008c0013t0002g0130 a0017c0023t0002g0129 a0021c0018t0007g0134 a0022c0019t0001g0133	13	284	0.0458	-74	c.188 others(91): Show c.188+3534_188+3607delGAACCAACAACATAGCATCCACCTAGAG ATGGATTTACAGACTCTTAAGTATTTTTTTCCCTCTATTAAAAGAC	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	2/6			chrX	TogoVar
MYADM_chr19_53862883_53881435	53870297	TGGGGGCC others(67): Show TGGGGGCCTGGACTCCGGGGTCCGAGGGAGGAGGGGCTGGGGTCTGGACT CCTGGGTCCGAGGGAGGAGGGGCTG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG02723.hp1 others(8): Show HG02109.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG03453.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 others(4): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0060 a0001c0001t0061 a0001c0001t0071	a0001c0001t0023g0010 a0001c0001t0024g0010 a0001c0001t0025g0010 others(4): Show a0001c0001t0023g0010 a0001c0001t0024g0010 a0001c0001t0025g0010 a0001c0001t0026g0019 a0001c0001t0060g0065 a0001c0001t0061g0066 a0001c0001t0071g0061	11	378	0.0291	-74	c.-3+ others(87): Show c.-3+464_-3+537delGCCTGGACTCCGGGGTCCGAGGGAGGAGGGGC TGGGGTCTGGACTCCTGGGTCCGAGGGAGGAGGGGCTGGGGG	MYADM	ENSG00000179820.16	transcript	ENST00000391770.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYBPC2_chr19_50427892_50471321	50439469	CATCCATG others(67): Show CATCCATGCATTCACTCACTCTCTCACCCATCAACCATCTTCTGAGGCCT CCCGTCTACTAGGTCCTGGGCTGAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(99): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19063.hp1 NA19066.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0005 a0006 others(7): Show a0001 a0005 a0006 a0007 a0011 a0018 a0019 a0024 a0028 a0035	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0042 a0005c0010 a0005c0046 a0006c0008 a0007c0007 a0011c0021 a0018c0047 a0019c0031 a0024c0040 a0028c0032 a0035c0025	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0001 a0001c0042t0001 a0005c0010t0001 a0005c0046t0001 a0006c0008t0001 a0007c0007t0001 a0011c0021t0001 a0018c0047t0001 a0019c0031t0001 a0024c0040t0001 a0028c0032t0001 a0035c0025t0001	a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0055 others(98): Show a0001c0001t0001g0018 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0186 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0002g0218 a0001c0002t0001g0134 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0303 a0001c0002t0001g0325 a0001c0005t0001g0131 a0001c0005t0001g0132 a0001c0005t0001g0133 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0139 a0001c0005t0001g0141 a0001c0005t0001g0143 a0001c0005t0001g0154 a0001c0005t0001g0171 a0001c0005t0001g0176 a0001c0042t0001g0330 a0005c0010t0001g0328 a0005c0010t0001g0334 a0005c0010t0001g0337 a0005c0010t0001g0338 a0005c0046t0001g0316 a0006c0008t0001g0313 a0006c0008t0001g0315 a0006c0008t0001g0317 a0006c0008t0001g0318 a0006c0008t0001g0319 a0007c0007t0001g0161 a0007c0007t0001g0200 a0007c0007t0001g0201 a0007c0007t0001g0202 a0011c0021t0001g0329 a0011c0021t0001g0336 a0018c0047t0001g0321 a0019c0031t0001g0174 a0024c0040t0001g0327 a0028c0032t0001g0210 a0035c0025t0001g0320	102	396	0.2576	-74	c.573 others(91): Show c.573-1257_573-1184delTGCATTCACTCACTCTCTCACCCATCAA CCATCTTCTGAGGCCTCCCGTCTACTAGGTCCTGGGCTGAGATCCA	MYBPC2	ENSG00000086967.10	transcript	ENST00000357701.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672249	ATATTCAT others(67): Show ATATTCATATATATGAATATATATATTAATATATTCATATATATATACTT ATATTCATATATTCATATATATACT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	410	0.0024	-74	c.-19 others(85): Show c.-1989_-1916delAGTATATATATGAATATATGAATATAAGTATATA TATATGAATATATTAATATATATATTCATATATATGAATA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1908		chr19	TogoVar
MYO1F_chr19_8515778_8582442	8574580	TCTCTCTC others(67): Show TCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03704.hp1 HG02965.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0251 a0001c0001t0003g0256 a0001c0001t0001g0251 a0001c0001t0003g0256	2	342	0.0059	-74	c.3+2 others(87): Show c.3+2653_3+2726delGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAG	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	1/27			chr19	TogoVar
NCAM2_chr21_20993409_21548329	21530169	TTTAATTA others(67): Show TTTAATTATATATGATTTAATTTAATTTAATTATATATAATTTAATTTAA TTTAATTATATATATTTAATTTAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0018 a0003c0006t0018	a0003c0006t0018g0016 a0003c0006t0018g0016	1	132	0.0076	-74	c.228 others(93): Show c.2283-4355_2283-4282delGATTTAATTTAATTTAATTATATATA ATTTAATTTAATTTAATTATATATATTTAATTTAAATTAATTATATAT	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCBP2L_chrX_107772733_107800829	107782252	TATATATA others(67): Show TATATATATAAATATATATATATAAATATATATAAATATATATATATAAA TATATATATAAATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	303	0.0033	-74	c.-73 others(91): Show c.-73+4404_-73+4477delAATATATATATATAAATATATATAAATA TATATATATAAATATATATATAAATATATATATATAAATATATATA	NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
NCCRP1_chr19_39191964_39206884	39196680	TGCCTGGA others(67): Show TGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGTCTTGAATTCCT GGGTCTGAGGGAGGAGGGGCTAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(160): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19009.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0004t0002 a0003c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0022 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0044 a0001c0001t0004g0007 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0006g0017 a0001c0001t0006g0023 a0001c0001t0007g0004 a0001c0001t0007g0046 a0001c0001t0009g0015 a0001c0001t0009g0043 a0001c0001t0011g0047 a0001c0001t0014g0002 a0001c0001t0015g0011 a0001c0001t0016g0042 a0001c0001t0017g0002 a0001c0004t0002g0002 a0003c0003t0002g0003	163	380	0.4290	-74	c.-30 others(83): Show c.-302_-229delGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG GTCTTGAATTCCTGGGTCTGAGGGAGGAGGGGCTAGGG	NCCRP1	ENSG00000188505.5	transcript	ENST00000339852.5	protein_coding		283		chr19	TogoVar
NDUFA11_chr19_5889675_5908790	5894435	GGAACTGG others(67): Show GGAACTGGGGGAAGCAGAGGCTGGGGCGCATCCCAGCCGTCTCCCCTCCT GGGCTCCCGATGGCCCCAGCCTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	364	0.0028	-74	c.23 others(83): Show c.233_*306delATCAGGCTGGGGCCATCGGGAGCCCAGGAGGGGAGA CGGCTGGGATGCGCCCCAGCCTCTGCTTCCCCCAGTTC	NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding		239		chr19	TogoVar
NEU4_chr2_241804193_241822413	241805290	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01192.hp1 HG01168.hp2 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0192 a0001c0001t0001g0001 a0001c0001t0003g0192	2	319	0.0063	-74	c.-39 others(85): Show c.-3987_-3914delTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3902		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805329	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0011	1	319	0.0031	-74	c.-39 others(85): Show c.-3948_-3875delTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3863		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805482	TCCCTCCC others(67): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0002	1	319	0.0031	-74	c.-37 others(85): Show c.-3795_-3722delCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3710		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805542	GACCTCCG others(67): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 NA18946.hp2 HG02486.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0190 a0001c0002t0001g0026 a0001c0001t0003g0190 a0001c0002t0001g0026	2	319	0.0063	-74	c.-37 others(85): Show c.-3735_-3662delACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3650		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805672	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02559.hp1 HG03130.hp1 others(2): Show HG02132.hp2 HG02559.hp1 HG03130.hp1 HG03139.hp2 NA18522.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0007 a0005c0018	a0001c0001t0003 a0001c0002t0001 a0002c0003t0002 others(2): Show a0001c0001t0003 a0001c0002t0001 a0002c0003t0002 a0003c0007t0002 a0005c0018t0001	a0001c0001t0003g0096 a0001c0002t0001g0002 a0002c0003t0002g0149 others(2): Show a0001c0001t0003g0096 a0001c0002t0001g0002 a0002c0003t0002g0149 a0003c0007t0002g0147 a0005c0018t0001g0022	5	319	0.0157	-74	c.-36 others(85): Show c.-3605_-3532delTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3520		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806227	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	319	0.0031	-74	c.-30 others(85): Show c.-3050_-2977delTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2965		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806458	TCCCTCCC others(67): Show TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	319	0.0031	-74	c.-28 others(85): Show c.-2819_-2746delCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2734		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806535	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA18952.hp1 NA19080.hp2 others(1): Show HG02486.hp1 NA18952.hp1 NA19080.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0001t0001 a0001c0002t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0002t0001g0028 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0002t0001g0028 a0001c0004t0001g0011	4	319	0.0125	-74	c.-27 others(85): Show c.-2742_-2669delTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2657		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806568	CCTTCCCT others(67): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 NA18906.hp2 HG00558.hp1 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0029 a0002c0003t0002g0126 a0002c0003t0002g0029 a0002c0003t0002g0126	2	319	0.0063	-74	c.-27 others(85): Show c.-2709_-2636delCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2624		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806648	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18999.hp1 NA18940.hp2 NA18999.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0001 a0004c0009t0001 a0001c0002t0001 a0004c0009t0001	a0001c0002t0001g0015 a0004c0009t0001g0003 a0001c0002t0001g0015 a0004c0009t0001g0003	2	319	0.0063	-74	c.-26 others(85): Show c.-2629_-2556delTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2544		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806684	TCCCTCCC others(67): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0024 a0001c0004t0001g0024	1	319	0.0031	-74	c.-25 others(85): Show c.-2593_-2520delCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2508		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806878	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 NA19005.hp2 HG00642.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0179 a0002c0003t0002g0150 a0001c0001t0003g0179 a0002c0003t0002g0150	2	319	0.0063	-74	c.-23 others(85): Show c.-2399_-2326delTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2314		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807065	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0175 a0002c0003t0002g0175	1	319	0.0031	-74	c.-22 others(85): Show c.-2212_-2139delTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2127		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807338	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCA CGCCAGGGACCCGGGAAGAGCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 NA18998.hp2 HG02109.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0097 a0001c0004t0001g0060 a0001c0001t0003g0097 a0001c0004t0001g0060	2	319	0.0063	-74	c.-19 others(85): Show c.-1939_-1866delTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGC TTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1854		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807696	CTCCCCCC others(67): Show CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 NA19064.hp2 NA19240.hp2 HG02723.hp2 NA19064.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0004t0001 a0002c0003t0002 a0001c0001t0003 a0001c0004t0001 a0002c0003t0002	a0001c0001t0003g0194 a0001c0004t0001g0005 a0002c0003t0002g0146 a0001c0001t0003g0194 a0001c0004t0001g0005 a0002c0003t0002g0146	3	319	0.0094	-74	c.-15 others(85): Show c.-1581_-1508delTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1496		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807768	CCTTCCCT others(67): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02071.hp2 NA19003.hp2 others(1): Show HG02040.hp1 HG02071.hp2 NA19003.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0002 a0001c0002t0001g0050 a0001c0004t0001g0024 a0001c0002t0001g0002 a0001c0002t0001g0050 a0001c0004t0001g0024	4	319	0.0125	-74	c.-15 others(85): Show c.-1509_-1436delCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1424		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807986	CAGCCCAG others(67): Show CAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACTCTCCCCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA18983.hp2 NA18998.hp1 others(1): Show HG02129.hp2 NA18983.hp2 NA18998.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0001 a0001c0002t0001 a0001c0005t0001	a0001c0002t0001g0002 a0001c0002t0001g0064 a0001c0005t0001g0024 others(1): Show a0001c0002t0001g0002 a0001c0002t0001g0064 a0001c0005t0001g0024 a0001c0005t0001g0061	4	319	0.0125	-74	c.-12 others(85): Show c.-1291_-1218delAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCCTCTT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1206		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808001	TGCAGGCC others(67): Show TGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACT CTCCCCTCTTAGCCCAGGGACCTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG03516.hp2 NA18951.hp2 HG02083.hp1 HG03516.hp2 NA18951.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0010c0012 a0001c0001 a0001c0004 a0010c0012	a0001c0001t0001 a0001c0004t0010 a0010c0012t0001 a0001c0001t0001 a0001c0004t0010 a0010c0012t0001	a0001c0001t0001g0012 a0001c0004t0010g0104 a0010c0012t0001g0135 a0001c0001t0001g0012 a0001c0004t0010g0104 a0010c0012t0001g0135	3	319	0.0094	-74	c.-12 others(85): Show c.-1276_-1203delGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1191		chr2	TogoVar
NFASC_chr1_204823652_205027822	204876994	ATGTATAT others(67): Show ATGTATATATATATATATATATATATATATATATAATATATATTTATATA TATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0029 a0003c0029	a0003c0029t0031 a0003c0029t0031	a0003c0029t0031g0005 a0003c0029t0031g0005	1	226	0.0044	-74	c.-19 others(95): Show c.-199-43636_-199-43563delGTATATATATATATATATATATAT ATATATATAATATATATTTATATATATATAATATATTTATTTATATATTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204876994	ATGTATAT others(67): Show ATGTATATATATATATATATATATATATATATATAATATATATTTATATA TATATAATATATTTATTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0183 a0001c0001t0028g0183	1	264	0.0038	-74	c.-91 others(91): Show c.-91+5926_-91+5999delGTATATATATATATATATATATATATAT ATATAATATATATTTATATATATATAATATATTTATTTATATATTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFE2L3_chr7_26147198_26192137	26176630	GGGCAGAG others(67): Show GGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGCCAGGCAGAGGCGCT CCTCACTTCCCAGACGGGGTGGCCA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0245 a0001c0002t0002g0245	1	400	0.0025	-74	c.571 others(91): Show c.571-1284_571-1211delGGGTGGCCAGGCAGAGGCGCTCCTCACT TCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCACATCCCAGACG	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NGB_chr14_77260483_77276206	77269723	TCTCTTCT others(67): Show TCTCTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCCTCTCCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01168.hp1 HG01255.hp2 others(17): Show HG00423.hp1 HG01168.hp1 HG01255.hp2 HG01433.hp1 HG01993.hp1 HG02257.hp1 HG02630.hp1 HG03139.hp2 HG03831.hp2 HG04199.hp1 NA18747.hp2 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18984.hp2 NA18997.hp2 NA18999.hp1 NA19004.hp2 NA19043.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0210 a0001c0001t0002g0053	20	366	0.0546	-74	c.90- others(87): Show c.90-471_90-398delGGGAGAGGGAGAGGGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAG	NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3			chr14	TogoVar
NHLRC4_chr16_562005_574495	571106	TGTCTGGC others(67): Show TGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTGTCTGGCTAGCCT GGCACCCGTGGCTAGCCTGGCGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-74	c.26 others(85): Show c.2688_*2761delGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCCGTGGCTAGCCTGGCGCCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1612		chr16	TogoVar
NINL_chr20_25447697_25590531	25468867	CGACTCTC others(67): Show CGACTCTCACTGGTGGGTGCCCCACTGTCCTGTCCCTTGACTCTCACTGG TGGGTGCCCCACTGTCCTGTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 HG02809.hp2 others(3): Show HG02145.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02965.hp2 NA18991.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0117 a0004c0005t0001g0210 a0004c0005t0001g0213 others(3): Show a0001c0001t0001g0117 a0004c0005t0001g0210 a0004c0005t0001g0213 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0218	6	310	0.0194	-74	c.335 others(93): Show c.3353+1050_3353+1123delAAGGGACAGGACAGTGGGGCACCCAC CAGTGAGAGTCAAGGGACAGGACAGTGGGGCACCCACCAGTGAGAGTC	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	18/23			chr20	TogoVar
NKAIN2_chr6_123798865_124830640	123996315	ATTTGCTC others(67): Show ATTTGCTCATTAATGTTGTCTGCAGCCCACCATTCCCAAAACATTTCAAA TACTATAAATAATATGTGATTGTAC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp2 HG01884.hp2 others(30): Show HG01243.hp2 HG01346.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18964.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0018 a0001c0003t0003	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(30): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0003g0024 a0001c0001t0003g0033 a0001c0001t0004g0061 a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0005g0031 a0001c0001t0006g0017 a0001c0001t0008g0051 a0001c0001t0015g0023 a0001c0001t0016g0010 a0001c0001t0020g0005 a0001c0001t0021g0027 a0001c0001t0022g0048 a0001c0002t0004g0045 a0001c0002t0004g0063 a0001c0002t0005g0020 a0001c0002t0007g0047 a0001c0002t0009g0050 a0001c0002t0018g0007 a0001c0003t0003g0037	33	66	0.5000	-74	c.54+ others(93): Show c.54+192063_54+192136delTTGCTCATTAATGTTGTCTGCAGCCC ACCATTCCCAAAACATTTCAAATACTATAAATAATATGTGATTGTACT	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NPM1_chr5_171382849_171415900	171403977	CCCGGACG others(67): Show CCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCAACCCTCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(198): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(115): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0003g0002 a0001c0001t0003g0025 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0192 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0218 a0001c0001t0003g0242 a0001c0001t0004g0226 a0001c0001t0005g0162 a0001c0001t0006g0228 a0001c0001t0007g0048 a0001c0001t0008g0161 a0001c0001t0009g0221	201	402	0.5000	-74	c.670 others(91): Show c.670-1322_670-1249delGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCAACCCTCACC	NPM1	ENSG00000181163.14	transcript	ENST00000296930.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
NXNL1_chr19_17450425_17465926	17463891	GAGAAGGA others(67): Show GAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAAAGAAGAAGAAGAAAAGA AGAAGAAGAAGAAGAAGAAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02602.hp1 NA20905.hp2 HG01099.hp2 HG02602.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0084 a0001c0001t0002g0009 a0001c0001t0002g0084	3	408	0.0074	-74	c.-30 others(85): Show c.-3096_-3023delTCTTCTTTCTTCTTCTTCTTCTTCTTCTTTTCTT CTTCTTCTTTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2966		chr19	TogoVar
NXN_chr17_794310_984776	948968	TCTCCCCG others(67): Show TCTCCCCGCGGGCTCCTCCTCTCCCCCCGGGCTCCTCCTCTCCCCCCGGG CTCCTCCTCTCCCCCCTGCCTCCTC	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	242	0.0041	-74	c.360 others(93): Show c.360+30277_360+30350delGAGGAGGCAGGGGGGAGAGGAGGAGC CCGGGGGGAGAGGAGGAGCCCGGGGGGAGAGGAGGAGCCCGCGGGGAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSBPL10_chr3_31655825_31986262	31812744	AAGAAAGA others(67): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19063.hp1 NA20129.hp1 HG01243.hp1 NA19063.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0011 a0001c0001 a0002c0003 a0003c0011	a0001c0001t0001 a0002c0003t0001 a0003c0011t0004 a0001c0001t0001 a0002c0003t0001 a0003c0011t0004	a0001c0001t0001g0071 a0002c0003t0001g0107 a0003c0011t0004g0014 a0001c0001t0001g0071 a0002c0003t0001g0107 a0003c0011t0004g0014	3	186	0.0161	-74	c.729 others(93): Show c.729+17222_729+17295delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	4/11			chr3	TogoVar
OXR1_chr8_106265190_106757694	106520196	GATTGAAA others(67): Show GATTGAAATCTTTTTCTTTGATTTTTTAGTAGCCATTCCTAGAAATGATC ATCAGGAGACCAGATTTCTAGTTCT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp2 HG01071.hp1 others(60): Show HG00609.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01433.hp1 HG01496.hp1 HG01978.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18960.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18990.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 a0003c0004t0001 a0004c0006t0002	a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0037 others(60): Show a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0080 a0001c0001t0003g0070 a0001c0001t0004g0092 a0001c0001t0006g0002 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0007g0023 a0001c0001t0007g0117 a0001c0001t0007g0164 a0001c0001t0008g0005 a0001c0001t0009g0171 a0001c0001t0011g0079 a0001c0001t0012g0008 a0001c0001t0015g0162 a0001c0002t0001g0026 a0001c0002t0001g0042 a0001c0002t0001g0053 a0001c0002t0001g0059 a0001c0002t0001g0065 a0001c0002t0001g0072 a0001c0002t0001g0086 a0001c0002t0001g0110 a0001c0002t0001g0113 a0001c0002t0001g0121 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0002g0013 a0001c0002t0002g0015 a0002c0003t0002g0012 a0003c0004t0001g0029 a0003c0004t0001g0069 a0004c0006t0002g0016	63	172	0.3663	-74	c.220 others(91): Show c.220+1133_220+1206delTTGAAATCTTTTTCTTTGATTTTTTAGT AGCCATTCCTAGAAATGATCATCAGGAGACCAGATTTCTAGTTCTA	OXR1	ENSG00000164830.19	transcript	ENST00000517566.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
P2RY6_chr11_73267338_73303625	73287451	GAAGGGGG others(67): Show GAAGGGGGATCCCCCAAAGGAAAATCAGAGGGCAGCGTCGTCATCATAAG AGGGGGTCTGGGAACTGGGTGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	324	0.0031	-74	c.-12 others(93): Show c.-120-8278_-120-8205delAAGGGGGATCCCCCAAAGGAAAATCA GAGGGCAGCGTCGTCATCATAAGAGGGGGTCTGGGAACTGGGTGGGAA	P2RY6	ENSG00000171631.16	transcript	ENST00000540124.6	protein_coding	1/2			chr11	TogoVar
PACRG_chr6_162722974_163320500	163269857	GAGAAAGA others(67): Show GAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAACAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAAC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	130	0.0077	-74	c.614 others(93): Show c.614-44968_614-44895delGAAAGAAAGAGAAAGAAAGAAAGAAA GAAAGAAAACAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAACA	PACRG	ENSG00000112530.13	transcript	ENST00000366888.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
PADI1_chr1_17200128_17251007	17208462	GGGCTAGC others(67): Show GGGCTAGCCCACCACCCTGTCCACCCCTGACTCCAGAGGGCTAGCTAACC ACCCTTTCCACCCCCCACCCCAGTA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01167.hp2 others(5): Show HG01070.hp2 HG01071.hp2 HG01167.hp2 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02559.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0014 a0002c0007	a0001c0001t0001 a0001c0001t0005 a0001c0002t0026 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0026 a0001c0004t0001 a0001c0005t0001 a0001c0014t0009 a0002c0007t0001	a0001c0001t0001g0097 a0001c0001t0005g0385 a0001c0002t0026g0387 others(4): Show a0001c0001t0001g0097 a0001c0001t0005g0385 a0001c0002t0026g0387 a0001c0004t0001g0384 a0001c0005t0001g0033 a0001c0014t0009g0386 a0002c0007t0001g0013	8	406	0.0197	-74	c.92+ others(89): Show c.92+3180_92+3253delTGACTCCAGAGGGCTAGCTAACCACCCTTT CCACCCCCCACCCCAGTAGGCTAGCCCACCACCCTGTCCACCCC	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PADI1_chr1_17200128_17251007	17208498	AGGGCTAG others(67): Show AGGGCTAGCTAACCACCCTTTCCACCCCCCACCCCAGTAGGCTAGCCCAC CACCCTGTCCACCCCCGACTCCAGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02258.hp1 others(7): Show HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02615.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03516.hp2	a0001 a0013 a0014 a0001 a0013 a0014	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0013c0019 a0014c0020	a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0004t0001 a0001c0014t0009 a0013c0019t0024 a0014c0020t0023	a0001c0001t0008g0389 a0001c0002t0001g0376 a0001c0002t0001g0378 others(7): Show a0001c0001t0008g0389 a0001c0002t0001g0376 a0001c0002t0001g0378 a0001c0002t0001g0379 a0001c0002t0002g0375 a0001c0002t0010g0380 a0001c0004t0001g0388 a0001c0014t0009g0377 a0013c0019t0024g0392 a0014c0020t0023g0391	10	406	0.0246	-74	c.92+ others(89): Show c.92+3199_92+3272delAACCACCCTTTCCACCCCCCACCCCAGTAG GCTAGCCCACCACCCTGTCCACCCCCGACTCCAGTGGGCTAGCT	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99683019	GGAAAGAA others(67): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01928.hp2 NA18906.hp2 others(2): Show HG01361.hp1 HG01928.hp2 NA18906.hp2 NA18986.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0059 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0149 a0001c0001t0001g0294	5	380	0.0132	-74	c.252 others(91): Show c.252-3618_252-3545delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAQR5_chr15_69293912_69412780	69300729	TTTCTTTC others(67): Show TTTCTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTTCCTCCCTCCCTCTC TCTCTCTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0135	1	284	0.0035	-74	c.-27 others(93): Show c.-277+1681_-277+1754delTTTCTTTCTTTCATTCTTTCTCTTCC TTCCTCCCTCCCTCTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300874	TTTCTTTC others(67): Show TTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTC TCTCTCTCTCTCTCTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	284	0.0035	-74	c.-27 others(93): Show c.-277+1840_-277+1913delCCTTCCTTCCTTCCTTCCTTTCTCTC TCTCTCTCTCTCTCTCTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARVB_chr22_44019302_44177939	44113730	CACCAACA others(67): Show CACCAACACAAATACGTTCTTACTAAGTAAGGCCCTGCACCAACACAGAT ACATTGTTACTAACTAAGGCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp1 others(105): Show HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18955.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19065.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0011	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0002c0003 a0003c0006 a0003c0033 a0003c0034 a0005c0014 a0009c0026 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0033 a0001c0001t0038 a0001c0001t0050 a0001c0001t0057 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0017 a0001c0002t0021 a0001c0002t0025 a0001c0002t0040 a0001c0002t0044 a0001c0002t0062 a0001c0002t0066 a0001c0004t0001 a0001c0004t0005 a0001c0015t0029 a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0014 a0002c0003t0017 a0002c0003t0032 a0002c0003t0079 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002 a0003c0034t0036 a0005c0014t0083 a0009c0026t0001 a0011c0010t0031	a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0096 others(105): Show a0001c0001t0001g0005 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0273 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0002g0015 a0001c0001t0002g0068 a0001c0001t0002g0216 a0001c0001t0002g0228 a0001c0001t0002g0256 a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0002g0310 a0001c0001t0003g0144 a0001c0001t0003g0328 a0001c0001t0004g0229 a0001c0001t0004g0236 a0001c0001t0004g0241 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0300 a0001c0001t0005g0058 a0001c0001t0005g0227 a0001c0001t0005g0257 a0001c0001t0005g0268 a0001c0001t0005g0306 a0001c0001t0006g0187 a0001c0001t0007g0221 a0001c0001t0007g0238 a0001c0001t0007g0303 a0001c0001t0008g0013 a0001c0001t0008g0231 a0001c0001t0008g0259 a0001c0001t0009g0091 a0001c0001t0010g0137 a0001c0001t0010g0322 a0001c0001t0011g0288 a0001c0001t0011g0296 a0001c0001t0012g0037 a0001c0001t0013g0124 a0001c0001t0013g0184 a0001c0001t0014g0109 a0001c0001t0014g0131 a0001c0001t0016g0185 a0001c0001t0016g0188 a0001c0001t0017g0081 a0001c0001t0021g0090 a0001c0001t0023g0205 a0001c0001t0024g0076 a0001c0001t0024g0181 a0001c0001t0026g0313 a0001c0001t0033g0209 a0001c0001t0038g0292 a0001c0001t0050g0218 a0001c0001t0057g0117 a0001c0001t0074g0132 a0001c0001t0076g0261 a0001c0001t0077g0307 a0001c0001t0081g0103 a0001c0002t0001g0012 a0001c0002t0001g0039 a0001c0002t0001g0055 a0001c0002t0001g0123 a0001c0002t0001g0224 a0001c0002t0005g0194 a0001c0002t0006g0101 a0001c0002t0006g0134 a0001c0002t0006g0168 a0001c0002t0007g0002 a0001c0002t0009g0138 a0001c0002t0009g0191 a0001c0002t0015g0327 a0001c0002t0017g0278 a0001c0002t0021g0092 a0001c0002t0025g0100 a0001c0002t0025g0128 a0001c0002t0040g0189 a0001c0002t0044g0018 a0001c0002t0062g0077 a0001c0002t0066g0105 a0001c0004t0001g0097 a0001c0004t0001g0180 a0001c0004t0001g0289 a0001c0004t0005g0098 a0001c0015t0029g0139 a0002c0003t0001g0047 a0002c0003t0001g0063 a0002c0003t0001g0240 a0002c0003t0003g0038 a0002c0003t0006g0112 a0002c0003t0012g0040 a0002c0003t0012g0041 a0002c0003t0014g0046 a0002c0003t0017g0242 a0002c0003t0032g0152 a0002c0003t0079g0044 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195 a0003c0034t0036g0325 a0005c0014t0083g0197 a0009c0026t0001g0277 a0011c0010t0031g0179	108	332	0.3253	-74	c.274 others(91): Show c.274-5298_274-5225delAATACGTTCTTACTAAGTAAGGCCCTGC ACCAACACAGATACATTGTTACTAACTAAGGCCCTGTACCAACACA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115437	AGATACAT others(67): Show AGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATACATTGTTA CTAACTAAGGCCCTGCACCAGAACG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02074.hp1 others(4): Show HG01256.hp2 HG01258.hp1 HG02074.hp1 NA18955.hp1 NA18973.hp2 NA18995.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0038 a0001c0001t0050 a0001c0002t0062	a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0001t0004g0229 others(4): Show a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0001t0004g0229 a0001c0001t0007g0238 a0001c0001t0038g0292 a0001c0001t0050g0218 a0001c0002t0062g0077	7	332	0.0211	-74	c.274 others(91): Show c.274-3537_274-3464delGCACCAGAACGGATACATTGTTACTAAG TAAGGCCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44115504	CCAGAACG others(67): Show CCAGAACGGATACATTGTTACTAAGTAAGGCCCTGCACCAACACAGATAC ATTGTTACTAACTAAGGCCCTACAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02622.hp1 others(5): Show HG01891.hp1 HG02572.hp2 HG02622.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG03453.hp1 NA19030.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0016 a0008c0022	a0001c0001t0053 a0001c0002t0019 a0001c0002t0058 others(5): Show a0001c0001t0053 a0001c0002t0019 a0001c0002t0058 a0001c0005t0001 a0001c0005t0003 a0001c0007t0019 a0001c0016t0030 a0008c0022t0072	a0001c0001t0053g0126 a0001c0002t0019g0111 a0001c0002t0058g0020 others(5): Show a0001c0001t0053g0126 a0001c0002t0019g0111 a0001c0002t0058g0020 a0001c0005t0001g0190 a0001c0005t0003g0133 a0001c0007t0019g0207 a0001c0016t0030g0085 a0008c0022t0072g0130	8	332	0.0241	-74	c.274 others(91): Show c.274-3531_274-3458delGAACGGATACATTGTTACTAAGTAAGGC CCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTACAGCA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVG_chr22_44175925_44213469	44207295	GGGGTGAG others(67): Show GGGGTGAGGCTGGCGGGGAGGGGTGAGGCTGGCGGGGAGGGGTGGGACTG GTGGGGAGGAGTGAGGCTAGTGGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02895.hp2 others(2): Show HG02258.hp1 HG02559.hp2 HG02895.hp2 HG02922.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0018 a0001c0001t0027 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027	a0001c0001t0016g0210 a0001c0001t0016g0318 a0001c0001t0018g0047 others(2): Show a0001c0001t0016g0210 a0001c0001t0016g0318 a0001c0001t0018g0047 a0001c0001t0018g0060 a0001c0001t0027g0124	5	422	0.0119	-74	c.89 others(83): Show c.892_*965delTGAGGCTGGCGGGGAGGGGTGGGACTGGTGGGGAGG AGTGAGGCTAGTGGGCGGGTGAGGCTGGCGGGGAGGGG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	14/14	892	INFO_REALIGN_3_PRIME	chr22	TogoVar

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