Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GCGR_chr17_81799150_81819008	81814182	CCATCTGA others(50): Show CCATCTGAGCAGGTCCTGGCCACCTTCCCATCCTGGTTCTGGCGGGCAGT CCCCCTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-57	c.49 others(66): Show c.494_*550delCATCTGAGCAGGTCCTGGCCACCTTCCCATCCTGGT TCTGGCGGGCAGTCCCCCTGG		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding					175		chr17	TogoVar
GCGR_chr17_81799150_81819008	81817579	GGGGTCCT others(50): Show GGGGTCCTCCCCCTGCACTCACTCAGCCCCGGGTCCTCCCCTGCACTCAC TCAGCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG03516.hp2 HG01081.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0017 a0001c0001 a0005c0017	a0001c0001t0001 a0005c0017t0001 a0001c0001t0001 a0005c0017t0001	a0001c0001t0001g0093 a0005c0017t0001g0100 a0001c0001t0001g0093 a0005c0017t0001g0100	2	408	0.0049	-57	c.38 others(68): Show c.3891_*3947delGGGTCCTCCCCCTGCACTCACTCAGCCCCGGGTC CTCCCCTGCACTCACTCAGCCCC		GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding					3572		chr17	TogoVar
GLOD4_chr17_754330_787280	767690	TTCAGATT others(50): Show TTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACGTAAGAGAGGGAAACA GCGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	420	0.0024	-57	c.831 others(74): Show c.831+2122_831+2178delGTGCGCGCTGTTTCCCTCTCTTACGTCC TCTCCAGATTTCTTCTTCTAAAAATCTGA		GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8						chr17	TogoVar
GLOD4_chr17_754330_787280	768865	TAGAAGAA others(50): Show TAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGCGCGCACTCAGA TTTTTAGA	T T	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	420	0.0024	-57	c.831 others(73): Show c.831+947_831+1003delTCTAAAAATCTGAGTGCGCGCTGTTTCTC TCTCTCACATCCTCTCCAGATTTCTTCT		GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8						chr17	TogoVar
GLT1D1_chr12_128848478_128989968	128971679	CTCCTCCC others(50): Show CTCCTCCCTTCCCCCCTCCCTCCTCCCTTCCCCCCTCCCTCCTCCCTTCC CCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG01070.hp1 others(33): Show HG00438.hp1 HG00639.hp1 HG01070.hp1 HG01243.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02717.hp2 HG03017.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp2 HG03927.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18941.hp2 NA18948.hp2 NA18952.hp2 NA18970.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp1 NA18999.hp2 NA19007.hp1 NA19010.hp2 NA19056.hp2 NA19058.hp1 NA19079.hp2 NA19240.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0005c0009 a0008c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0004t0005 a0003c0005t0004 a0005c0009t0008 a0008c0013t0004	a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0098 others(33): Show a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0147 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0198 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0299 a0001c0001t0002g0185 a0001c0001t0002g0251 a0001c0001t0002g0254 a0001c0001t0004g0030 a0001c0001t0005g0092 a0001c0001t0009g0056 a0001c0002t0001g0047 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0119 a0001c0002t0001g0142 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0004t0005g0252 a0003c0005t0004g0043 a0005c0009t0008g0023 a0008c0013t0004g0312	36	320	0.1125	-57	c.880 others(76): Show c.880-11210_880-11154delCCTCCCTTCCCCCCTCCATCCTCCCT TCCCCCCTCCCTCCTCCCTTCCCCCCTCCCT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021861	AAGAAGAA others(50): Show AAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0296 a0003c0008t0001g0296	1	416	0.0024	-57	c.-16 others(74): Show c.-163-427_-163-371delCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTTCTTCT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021908	AGAAGAAG others(50): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGG AAGAAGAG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0304 a0001c0003t0001g0304	1	416	0.0024	-57	c.-16 others(74): Show c.-163-474_-163-418delCTCTTCTTCCTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GOLGA8M_chr15_28693583_28717421	28698535	AAATAAAG others(50): Show AAATAAAGTTATTTAATAAAATAACTTTTTATAAAACTTTAATAAAAGTT TTTTAATT	A A	splice_region_variant splice_region_variant	LOW	HG00609.hp2 HG01074.hp1 HG01123.hp2 others(44): Show HG00609.hp2 HG01074.hp1 HG01123.hp2 HG01257.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18953.hp2 NA18972.hp1 NA18975.hp2 NA18988.hp1 NA19009.hp2 NA19043.hp1 NA19058.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0005 others(17): Show a0001 a0002 a0005 a0008 a0009 a0017 a0018 a0021 a0022 a0026 a0029 a0030 a0040 a0048 a0052 a0053 a0054 a0055 a0059 a0062	a0001c0009 a0002c0050 a0005c0006 others(19): Show a0001c0009 a0002c0050 a0005c0006 a0005c0042 a0005c0045 a0008c0016 a0009c0021 a0017c0036 a0018c0020 a0021c0018 a0022c0019 a0026c0029 a0029c0028 a0030c0031 a0040c0044 a0048c0046 a0052c0065 a0053c0048 a0054c0051 a0055c0049 a0059c0096 a0062c0043	a0001c0009t0012 a0001c0009t0043 a0002c0050t0007 others(23): Show a0001c0009t0012 a0001c0009t0043 a0002c0050t0007 a0005c0006t0003 a0005c0006t0016 a0005c0042t0003 a0005c0045t0003 a0008c0016t0057 a0009c0021t0007 a0009c0021t0031 a0017c0036t0033 a0018c0020t0011 a0021c0018t0003 a0022c0019t0003 a0026c0029t0003 a0026c0029t0026 a0029c0028t0003 a0030c0031t0024 a0040c0044t0011 a0048c0046t0025 a0052c0065t0063 a0053c0048t0007 a0054c0051t0032 a0055c0049t0007 a0059c0096t0041 a0062c0043t0003	a0001c0009t0012g0016 a0001c0009t0043g0208 a0002c0050t0007g0218 others(33): Show a0001c0009t0012g0016 a0001c0009t0043g0208 a0002c0050t0007g0218 a0005c0006t0003g0005 a0005c0006t0003g0075 a0005c0006t0003g0077 a0005c0006t0003g0078 a0005c0006t0016g0070 a0005c0006t0016g0071 a0005c0042t0003g0068 a0005c0045t0003g0060 a0008c0016t0057g0155 a0009c0021t0007g0220 a0009c0021t0007g0221 a0009c0021t0031g0219 a0017c0036t0033g0158 a0018c0020t0011g0072 a0018c0020t0011g0073 a0018c0020t0011g0076 a0021c0018t0003g0028 a0021c0018t0003g0067 a0022c0019t0003g0062 a0022c0019t0003g0063 a0022c0019t0003g0064 a0026c0029t0003g0059 a0026c0029t0026g0074 a0029c0028t0003g0066 a0030c0031t0024g0055 a0040c0044t0011g0079 a0048c0046t0025g0061 a0052c0065t0063g0291 a0053c0048t0007g0216 a0054c0051t0032g0215 a0055c0049t0007g0217 a0059c0096t0041g0080 a0062c0043t0003g0069	47	441	0.1066	-57	c.33 others(68): Show c.3362_*3418delAATTAAAAAACTTTTATTAAAGTTTTATAAAAAG TTATTTTATTAAATAACTTTATT		GOLGA8M	ENSG00000188626.7	transcript	ENST00000563027.2	protein_coding	19/19						chr15	TogoVar
GOLM2_chr15_44283719_44420758	44288506	GAGAGCGA others(50): Show GAGAGCGAGAGAGCGAGAGAGCGAGAGAGCGAGAGAGAGAGAGAGAGAGA GAGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	150	0.0067	-57	c.-52 others(66): Show c.-523_-467delAGAGCGAGAGAGCGAGAGAGCGAGAGAGCGAGAGAG AGAGAGAGAGAGAGAGAGAGA		GOLM2	ENSG00000166734.20	transcript	ENST00000299957.11	protein_coding					212		chr15	TogoVar
GPIHBP1_chr8_143208218_143222170	143213588	CGGCTGCA others(50): Show CGGCTGCAGGACAGTGAGTAGGGTGAGTAGGGTAGTAGGACAGTGAGTAG GGTGAGTA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01934.hp2 HG02257.hp1 others(14): Show HG00544.hp1 HG01934.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02735.hp1 HG02886.hp2 HG03041.hp2 HG03225.hp1 HG03579.hp2 NA18951.hp1 NA19005.hp2 NA19030.hp2 NA19088.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 others(2): Show a0001c0003t0005 a0001c0003t0008 a0001c0003t0010 a0001c0003t0012 a0001c0003t0013	a0001c0003t0005g0002 a0001c0003t0005g0018 a0001c0003t0008g0002 others(3): Show a0001c0003t0005g0002 a0001c0003t0005g0018 a0001c0003t0008g0002 a0001c0003t0010g0002 a0001c0003t0012g0002 a0001c0003t0013g0002	17	106	0.1604	-57	c.53- others(70): Show c.53-201_53-145delAGTAGGACAGTGAGTAGGGTGAGTAGGCTGCA GGACAGTGAGTAGGGTGAGTAGGGT		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
GPR137B_chr1_236137539_236213907	236142391	GGGCGCGC others(50): Show GGGCGCGCGGGCCGGGGCGGGGGCGCGCGGGCCGGGGCGGGGGCGCGCGG GGCCGGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	386	0.0026	-57	c.-23 others(66): Show c.-231_-175delGGCGCGCGGGCCGGGGCGGGGGCGCGCGGGCCGGGG CGGGGGCGCGCGGGGCCGGTC		GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding					147		chr1	TogoVar
GPR146_chr7_1039546_1064261	1041319	CGGGGAAG others(50): Show CGGGGAAGGGGGCCTGGGGTCCGCGCTGCGGGGAAGGGGGCCTGGGGTCC GCGCTGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0226 a0001c0001t0006g0226	1	434	0.0023	-57	c.-33 others(68): Show c.-3363_-3307delGGGGAAGGGGGCCTGGGGTCCGCGCTGCGGGGAA GGGGGCCTGGGGTCCGCGCTGCA		GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding					3226		chr7	TogoVar
GPR35_chr2_240620480_240638159	240623405	CGCAAACA others(50): Show CGCAAACAGATCGTGAGGGCGCAAACAGGTCGTGAGGGCGCAAACAGGTC GTGAGGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp2 others(60): Show HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01346.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02300.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp2 NA19081.hp1 NA19090.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0027 a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0010 a0002c0002t0020 a0003c0003t0001 a0003c0003t0024	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 others(39): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0097 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0003g0007 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0014g0003 a0001c0001t0014g0187 a0001c0001t0027g0110 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0015 a0002c0002t0001g0135 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0145 a0002c0002t0004g0009 a0002c0002t0004g0010 a0002c0002t0004g0011 a0002c0002t0004g0198 a0002c0002t0005g0173 a0002c0002t0010g0015 a0002c0002t0010g0142 a0002c0002t0010g0168 a0002c0002t0020g0015 a0003c0003t0001g0013 a0003c0003t0001g0016 a0003c0003t0001g0126 a0003c0003t0001g0175 a0003c0003t0024g0016	63	400	0.1575	-57	c.-21 others(68): Show c.-2167_-2111delGCAAACAGATCGTGAGGGCGCAAACAGGTCGTGA GGGCGCAAACAGGTCGTGAGGGT		GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding					2074		chr2	TogoVar
GPR39_chr2_132411805_132651582	132646054	TGCCGAGA others(50): Show TGCCGAGAAGAGGGCTAATTTGAGGAACAGGATGGTGGTGCGGAGCCCTG GCCTGAGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0173 a0001c0001t0010g0173	1	208	0.0048	-57	c.45 others(66): Show c.455_*511delAAGAGGGCTAATTTGAGGAACAGGATGGTGGTGCGG AGCCCTGGCCTGAGGGCCGAG		GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	2/2				455	INFO_REALIGN_3_PRIME	chr2	TogoVar
GPRC5D_chr12_12935575_12957170	12941441	TTGATTAA others(50): Show TTGATTAAAGCACATGATATAGTTATGGCCTGGTCCATGTGTCATTCTAG GAAAAGGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	406	0.0025	-57	c.964 others(72): Show c.964-649_964-593delGCCTTTTCCTAGAATGACACATGGACCAGG CCATAACTATATCATGTGCTTTAATCA		GPRC5D	ENSG00000111291.9	transcript	ENST00000228887.6	protein_coding	3/3						chr12	TogoVar
GPRC6A_chr6_116787085_116834083	116833885	GAAATTGT others(50): Show GAAATTGTATAAAAGTTTTGAGTGAACATGCGTATATAGATTTTTCTGGG GAGAACAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	368	0.0027	-57	c.-49 others(68): Show c.-4929_-4873delATGTTCTCCCCAGAAAAATCTATATACGCATGTT CACTCAAAACTTTTATACAATTT		GPRC6A	ENSG00000173612.10	transcript	ENST00000310357.8	protein_coding					4803		chr6	TogoVar
GREB1L_chr18_21237232_21531112	21515956	GCCTCCTT others(50): Show GCCTCCTTCACCCTCCAGACTCAGAAGGAAATCACTTTTCCTGAATGTTA GACTAAGC	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0121 a0001c0002t0004g0121	1	148	0.0068	-57	c.512 others(74): Show c.5129+346_5129+402delCTTTTCCTGAATGTTAGACTAAGCCCTC CTTCACCCTCCAGACTCAGAAGGAAATCA		GREB1L	ENSG00000141449.16	transcript	ENST00000424526.7	protein_coding	29/32					INFO_REALIGN_3_PRIME	chr18	TogoVar
GREB1L_chr18_21237232_21531112	21515990	CTTTTCCT others(50): Show CTTTTCCTGAATGTTAGACTAAGCCCTCCTTCACCCTCCAGACTCAGAAG GAAATCAA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19003.hp1 NA18955.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0078 a0001c0001t0003g0067 a0001c0001t0002g0078 a0001c0001t0003g0067	2	148	0.0135	-57	c.512 others(74): Show c.5129+363_5129+419delACTAAGCCCTCCTTCACCCTCCAGACTC AGAAGGAAATCAATTTTCCTGAATGTTAG		GREB1L	ENSG00000141449.16	transcript	ENST00000424526.7	protein_coding	29/32					INFO_REALIGN_3_PRIME	chr18	TogoVar
GREB1_chr2_11529045_11647788	11596467	ATGCACAG others(50): Show ATGCACAGTGAGGGGGTGGGGCACAGGTGTGCACAGTGAGGGGGTGGGGG CACAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG02965.hp2 HG03130.hp1	a0008 a0009 a0008 a0009	a0008c0044 a0009c0029 a0008c0044 a0009c0029	a0008c0044t0039 a0009c0029t0020 a0008c0044t0039 a0009c0029t0020	a0008c0044t0039g0011 a0009c0029t0020g0016 a0008c0044t0039g0011 a0009c0029t0020g0016	2	308	0.0065	-57	c.195 others(74): Show c.1954+249_1954+305delCACAGGTGTGCACAGTGAGGGGGTGGGG GCACAGGTGTGCACAGTGAGGGGGTGGGG		GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	13/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
GRID2_chr4_92298966_93779566	92578041	TTTCTTCT others(50): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02615.hp2 others(11): Show HG02055.hp1 HG02055.hp2 HG02615.hp2 HG02698.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03486.hp2 NA18906.hp2 NA18950.hp1 NA19030.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0007 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0007 a0001c0005t0002 a0001c0006t0002 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0002t0001g0015 a0001c0004t0007g0028 a0001c0005t0002g0029 a0001c0006t0002g0030 a0002c0003t0001g0033	14	34	0.4118	-57	c.89- others(74): Show c.89-12072_89-12016delCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTT		GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIN1_chr9_137134154_137173756	137144712	TAGAAAGT others(50): Show TAGAAAGTGTCCCCAGGGGTGTGGGGACAGGAGTGAGAGGAAGGGGGTCC CAGGGTCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	298	0.0034	-57	c.394 others(72): Show c.394-996_394-940delGTGTGGGGACAGGAGTGAGAGGAAGGGGGT CCCAGGGTCCAGAAAGTGTCCCCAGGG		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144844	GGGTGGCA others(50): Show GGGTGGCAGGGATGGGATGGGAGACACGAGGGGGTCCCAGAGTCTAGAAA GTGTCCCC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG02896.hp1 others(2): Show HG02258.hp2 HG02717.hp2 HG02896.hp1 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(2): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260	5	298	0.0168	-57	c.394 others(72): Show c.394-881_394-825delGGTGGCAGGGATGGGATGGGAGACACGAGG GGGTCCCAGAGTCTAGAAAGTGTCCCC		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19						chr9	TogoVar
GRIN1_chr9_137134154_137173756	137145135	GGTGGGGA others(50): Show GGTGGGGACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCC CCAGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01934.hp1 HG02015.hp2 others(11): Show HG00280.hp2 HG01934.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02293.hp1 HG02976.hp2 HG03486.hp2 HG03654.hp2 HG03688.hp2 HG03927.hp1 NA18990.hp1 NA19012.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0059 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0142 a0001c0001t0001g0204 a0001c0001t0001g0235 a0001c0001t0001g0269 a0001c0003t0001g0218	14	298	0.0470	-57	c.394 others(72): Show c.394-553_394-497delTAGAAAGTGTCCCCAGGGGTGTGGGGACCG GGGTGAGAGGAAGGGGGTCCCAGGGTC		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GRPR_chrX_16118565_16158518	16128687	AGCTGATT others(50): Show AGCTGATTGGGTGGGTTACATGTATGAGTGGACAGATGGATGGATAGATG GCTGGCTG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	283	0.0035	-57	c.413 others(74): Show c.413+4360_413+4416delATGGATAGATGGCTGGCTGGCTGATTGG GTGGGTTACATGTATGAGTGGACAGATGG		GRPR	ENSG00000126010.6	transcript	ENST00000380289.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
GUCY2C_chr12_14607632_14701599	14696951	ATATATAA others(50): Show ATATATAAAGTGTATATATATATATATATATATATATATAAAGTGTATAT ATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00597.hp2 others(22): Show HG00099.hp2 HG00140.hp2 HG00597.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02273.hp2 HG03831.hp1 NA18942.hp1 NA18971.hp1 NA19002.hp1 NA19077.hp2 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0003g0158	25	236	0.1059	-57	c.-56 others(66): Show c.-560_-504delATATATATATATACACTTTATATATATATATATATA TATATATATACACTTTATATA		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					353		chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14697012	TATATATA others(50): Show TATATATATATATAAAGTGTATATATATATATATATATATATATATATAT AAAGTGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	236	0.0042	-57	c.-62 others(66): Show c.-621_-565delTACACTTTATATATATATATATATATATATATATAT ATACACTTTATATATATATAT		GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding					414		chr12	TogoVar
H2AB3_chrX_155454415_155465005	155458169	GAGGGCGG others(50): Show GAGGGCGGCGGCGGCGGCCGGCTGGCCCAGCTCGAGGTGCAGACGCACCG CGGCGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	214	0.0047	-57	c.13 others(68): Show c.1354_*1410delGGGCGCCGCGGTGCGTCTGCACCTCGAGCTGGGC CAGCCGGCCGCCGCCGCCGCCCT		H2AB3	ENSG00000277745.1	transcript	ENST00000615853.1	protein_coding					1245		chrX	TogoVar
HAGHL_chr16_722106_734715	727514	AGGTCAAG others(50): Show AGGTCAAGGTCATCCCCGTGCTCGAGGACAACTACATGTACCTGGTCATC GAGGAGCT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18965.hp1 NA18965.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0012 a0006c0007t0012	a0006c0007t0012g0001 a0006c0007t0012g0001	1	398	0.0025	-57	c.6_6 others(61): Show c.6_62delGGTCAAGGTCATCCCCGTGCTCGAGGACAACTACATGTACC TGGTCATCGAGGAGCT	p.Lys others(16): Show p.Lys2_Leu21delinsAsn	HAGHL	ENSG00000103253.19	transcript	ENST00000389703.8	protein_coding	1/8	410/1512	6/849	2/282			chr16	TogoVar
HDAC4_chr2_239043168_239406020	239187891	AAAAACGA others(50): Show AAAAACGATAAAGCATGGACTTCAAGAGCTCAGGAAAGTGTCCTCTCCTT GGTTTGTC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	242	0.0041	-57	c.339 others(74): Show c.339+1885_339+1941delGACAAACCAAGGAGAGGACACTTTCCTG AGCTCTTGAAGTCCATGCTTTATCGTTTT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	4/26						chr2	TogoVar
HDAC4_chr2_239043168_239406020	239366071	CACACAAA others(50): Show CACACAAACACGCATGCACAGAGCAGGGTCGTCAGGGTCACGCGTGTGGC ACTGGCGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0072 a0001c0036t0072	a0001c0036t0072g0129 a0001c0036t0072g0129	1	242	0.0041	-57	c.-21 others(78): Show c.-219-13210_-219-13154delCCGCCAGTGCCACACGCGTGACCC TGACGACCCTGCTCTGTGCATGCGTGTTTGTGT		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	1/26						chr2	TogoVar
HECW2_chr2_196189072_196598554	196598362	GGGAAGGG others(50): Show GGGAAGGGAAGGGGAGGGGAGGAGGGGAAGGGGAGGGGAAGGGGAAGGGG GGAAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	112	0.0089	-57	c.-49 others(68): Show c.-4947_-4891delTCCTTTCCCCCCTTCCCCTTCCCCTCCCCTTCCC CTCCTCCCCTCCCCTTCCCTTCC		HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding					4809		chr2	TogoVar
HELZ2_chr20_63553086_63579239	63559621	CAGTCAGA others(50): Show CAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGGTCGG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01361.hp1 HG01346.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0020 a0001c0001t0019g0020	2	390	0.0051	-57	c.782 others(74): Show c.7825+250_7826-252delCCGACCTGACCCTGACTCCTCCCACCTG ACCCTGACTCCTCCCACCTGACTCTGACT		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HSD17B11_chr4_87331515_87396188	87378903	TAAATATA others(50): Show TAAATATATATATATAAATATATATAAATATATATATATATATATTTATA TATATATA	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	390	0.0026	-57	c.318 others(74): Show c.318+3295_318+3351delTATATATATATAAATATATATATATATA TATTTATATATATTTATATATATATATTT		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378904	AAATATAT others(50): Show AAATATATATATATAAATATATATAAATATATATATATATATATTTATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	390	0.0026	-57	c.318 others(74): Show c.318+3294_318+3350delATATATATATATAAATATATATATATAT ATATTTATATATATTTATATATATATATT		HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6						chr4	TogoVar
IDI2_chr10_1013910_1030859	1030499	CCTGAATG others(50): Show CCTGAATGGGCTCTCAGATTCTGCTTTCCTAAGAAAGTGTGTTGAGGTAG TTCTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0006 a0001c0003t0003g0006	1	434	0.0023	-57	c.-47 others(68): Show c.-4762_-4706delAAAAAGAACTACCTCAACACACTTTCTTAGGAAA GCAGAATCTGAGAGCCCATTCAG		IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding					4641		chr10	TogoVar
IDI2_chr10_1013910_1030859	1030524	TTCCTAAG others(50): Show TTCCTAAGAAAGTGTGTTGAGGTAGTTCTTTTTCTGAATGGGCTCTCAGA TTCTGCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	434	0.0023	-57	c.-47 others(68): Show c.-4787_-4731delGAGCAGAATCTGAGAGCCCATTCAGAAAAAGAAC TACCTCAACACACTTTCTTAGGA		IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding					4666		chr10	TogoVar
IFT88_chr13_20562157_20696444	20695596	GAGATCGC others(50): Show GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCT CAAGAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	308	0.0033	-57	c.44 others(68): Show c.4422_*4478delAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCTGTCTCAAGAAAA		IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding					4153		chr13	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(50): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02165.hp2 HG02572.hp2 others(8): Show HG01175.hp2 HG02165.hp2 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG02965.hp2 HG03139.hp1 HG03239.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0009 a0003c0007 a0004c0006 a0006c0010 a0009c0013	a0001c0001t0003 a0001c0002t0009 a0001c0002t0080 others(7): Show a0001c0001t0003 a0001c0002t0009 a0001c0002t0080 a0001c0004t0046 a0001c0009t0002 a0003c0007t0022 a0003c0007t0079 a0004c0006t0003 a0006c0010t0011 a0009c0013t0010	a0001c0001t0003g0037 a0001c0002t0009g0047 a0001c0002t0080g0054 others(8): Show a0001c0001t0003g0037 a0001c0002t0009g0047 a0001c0002t0080g0054 a0001c0004t0046g0273 a0001c0009t0002g0068 a0003c0007t0022g0108 a0003c0007t0079g0137 a0004c0006t0003g0217 a0006c0010t0011g0123 a0006c0010t0011g0125 a0009c0013t0010g0160	11	310	0.0355	-57	c.684 others(76): Show c.6843-1795_6843-1739delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47						chr6	TogoVar
IL17REL_chr22_49986811_50017765	49999681	AGGTGGGT others(50): Show AGGTGGGTGGGGCCTAGGCCTGGCCGGGGGCGGGGCGCGGGGGGTGGGCG GGGCGCGG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	440	0.0023	-57	c.690 others(71): Show c.690+90_690+146delCCGCGCCCCGCCCACCCCCCGCGCCCCGCCC CCGGCCAGGCCTAGGCCCCACCCACC		IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	7/14						chr22	TogoVar
IL1RAPL2_chrX_104561199_105772829	104761887	CCTTCTCC others(50): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC TTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	141	0.0071	-57	c.82+ others(76): Show c.82+102898_82+102954delCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTTCTTCTTCTTCTTCTTCTTCT		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL2_chrX_104561199_105772829	105447200	TATATATA others(50): Show TATATATAAATATATATAAAATATATATAAATATATATATAAATATAAAT ATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01884.hp1 others(19): Show HG01109.hp1 HG01243.hp2 HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0064 others(19): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0004g0128 a0001c0002t0001g0070 a0001c0002t0001g0132	22	141	0.1560	-57	c.698 others(76): Show c.698-37105_698-37049delAATATATATAAAATATATATAAATAT ATATATAAATATAAATATATATAAATATATA		IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL33_chr9_6210807_6262983	6218806	CATATATA others(50): Show CATATATATATATGTTCTCCATATATATATGTTCTCCATATATATATATG TTCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	362	0.0028	-57	c.-12 others(74): Show c.-12+2965_-12+3021delATGTTCTCCATATATATATGTTCTCCAT ATATATATATGTTCTCCATATATATATAT		IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
INHBE_chr12_57450307_57463025	57462029	TAGCCCCA others(50): Show TAGCCCCATTTCCTTGGAGGCTCTTCGGCAGCTAGGCAGTGGGGCAGAAA GATGACTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	446	0.0022	-57	c.51 others(68): Show c.5182_*5238delAGCCCCATTTCCTTGGAGGCTCTTCGGCAGCTAG GCAGTGGGGCAGAAAGATGACTG		INHBE	ENSG00000139269.3	transcript	ENST00000266646.3	protein_coding					4005		chr12	TogoVar
INPP4B_chr4_142018160_142851301	142108390	CACCTCAA others(50): Show CACCTCAAATATCCTCACAATCATCAAATGTGAACCTAGATAAAATACCA TGTATAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01070.hp1 others(21): Show HG00438.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp1 HG02145.hp1 HG02258.hp2 HG02523.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 HG03654.hp2 HG03831.hp1 NA19005.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0003t0003 a0001c0003t0005 a0001c0003t0011 a0001c0003t0017 a0001c0006t0007 a0001c0010t0003 a0003c0008t0003	a0001c0001t0001g0023 a0001c0001t0002g0021 a0001c0001t0003g0032 others(21): Show a0001c0001t0001g0023 a0001c0001t0002g0021 a0001c0001t0003g0032 a0001c0001t0003g0045 a0001c0001t0004g0010 a0001c0001t0004g0041 a0001c0001t0004g0088 a0001c0001t0011g0011 a0001c0001t0012g0061 a0001c0001t0014g0076 a0001c0001t0014g0078 a0001c0001t0018g0008 a0001c0001t0024g0030 a0001c0001t0025g0009 a0001c0001t0026g0067 a0001c0003t0003g0013 a0001c0003t0003g0044 a0001c0003t0003g0071 a0001c0003t0005g0065 a0001c0003t0011g0007 a0001c0003t0017g0006 a0001c0006t0007g0081 a0001c0010t0003g0018 a0003c0008t0003g0068	24	90	0.2667	-57	c.227 others(74): Show c.2277-257_2277-201delTTTATACATGGTATTTTATCTAGGTTCA CATTTGATGATTGTGAGGATATTTGAGGT		INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	22/25						chr4	TogoVar
INPP5A_chr10_132532787_132788480	132552347	CTGGTGAA others(50): Show CTGGTGAACACCTCCTCAGAGCCTTGGTGGCATATTGAGTGGGATAGGGA GGGAGGAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	204	0.0049	-57	c.75+ others(74): Show c.75+14185_75+14241delACCTCCTCAGAGCCTTGGTGGCATATTG AGTGGGATAGGGAGGGAGGATTGGTGAAC		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132553120	AATATTGG others(50): Show AATATTGGGTAGGATAGGGAGGGAGGATTGGTGAACGCCTTCTCAGAGCC TTGGTGGC	A A	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	204	0.0049	-57	c.75+ others(74): Show c.75+15006_75+15062delCATATTGGGTAGGATAGGGAGGGAGGAT TGGTGAACGCCTTCTCAGAGCCTTGGTGG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INSR_chr19_7107265_7299414	7124553	AAAAAAAA others(50): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0088 a0001c0033t0088	a0001c0033t0088g0098 a0001c0033t0088g0098	1	300	0.0033	-57	c.325 others(74): Show c.3258+673_3258+729delATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTT		INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	17/21						chr19	TogoVar
IQCA1_chr2_236319151_236512476	236491131	ATATATAT others(50): Show ATATATATACAGTATATATATACACACAGTATATATATATATATATATAT ACACACAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp1 HG02109.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0167 a0001c0001t0001g0105 a0001c0001t0001g0167	2	208	0.0096	-57	c.456 others(74): Show c.456+2580_456+2636delCTGTGTGTATATATATATATATATATAT ACTGTGTGTATATATATACTGTATATATA		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18						chr2	TogoVar
IQCG_chr3_197884077_197964991	197925197	CGATGGGA others(50): Show CGATGGGATGAGGTCATCTGTGGGGGAGGGTGGTGGTGTATGTGGGGTGG GATATGAG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	280	0.0036	-57	c.726 others(72): Show c.726+770_726+826delCTCATATCCCACCCCACATACACCACCACC CTCCCCCACAGATGACCTCATCCCATC		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	7/11						chr3	TogoVar
IQCG_chr3_197884077_197964991	197941343	CTGTCTCT others(50): Show CTGTCTCTTTCTTTCCCTTCCTTCCTTCCTCCCTCTCTCCCCTCCCTTCC CCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0034 a0001c0003t0001g0034	1	280	0.0036	-57	c.282 others(74): Show c.282+2378_282+2434delAGGGAGGGGGAAGGGAGGGGAGAGAGGG AGGAAGGAAGGAAGGGAAAGAAAGAGACA		IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	4/11						chr3	TogoVar

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