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
RYR1_chr19_38428691_38592564	38540494	CCTCCAAT others(80): Show CCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGT GTAATAAACCTCCAATCATATACTACAGTGTAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0004 a0030 a0004 a0030	a0004c0115 a0030c0041 a0004c0115 a0030c0041	a0004c0115t0004 a0030c0041t0001 a0004c0115t0004 a0030c0041t0001	a0004c0115t0004g0216 a0030c0041t0001g0068 a0004c0115t0004g0216 a0030c0041t0001g0068	2	216	0.0093	-87	c.116 others(108): Show c.11689+2621_11690-2680delTCTCCAATCATATACTACAGTGTA ATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACT ACAGTGTAATAAA		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD11_chr1_918923_949574	934178	GGGAGGCG others(80): Show GGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGT GGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01496.hp2 others(4): Show HG01255.hp2 HG01358.hp1 HG01496.hp2 HG01981.hp2 HG02004.hp1 HG02273.hp1 NA19010.hp2	a0002 a0014 a0002 a0014	a0002c0003 a0014c0027 a0002c0003 a0014c0027	a0002c0003t0004 a0002c0003t0024 a0014c0027t0004 a0002c0003t0004 a0002c0003t0024 a0014c0027t0004	a0002c0003t0004g0012 a0002c0003t0004g0022 a0002c0003t0024g0227 others(1): Show a0002c0003t0004g0012 a0002c0003t0004g0022 a0002c0003t0024g0227 a0014c0027t0004g0226	7	430	0.0163	-87	c.843 others(104): Show c.843-1591_843-1505delAGGCGGCTGCGTTACAGGTGGGCAGGGG AGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGG CAGGGGAGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SATL1_chrX_85087284_85248779	85227573	TCTGAATG others(80): Show TCTGAATGAGGAATTACAGAGAACAGAAGAACATGTTGAAAGTCACCAAG GGGATGCAATCGCAAAATACAGACTGTGGGGGACTCTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG01934.hp1 others(24): Show HG00280.hp1 HG01168.hp1 HG01934.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1 NA18941.hp1 NA18950.hp1 NA18960.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19060.hp1 NA19063.hp1 NA19076.hp1 NA19077.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 others(24): Show a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0004g0049	27	230	0.1174	-87	c.-43 others(106): Show c.-434-3334_-434-3248delTAGAGTCCCCCACAGTCTGTATTTTG CGATTGCATCCCCTTGGTGACTTTCAACATGTTCTTCTGTTCTCTGTAAT TCCTCATTCAG		SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	1/7						chrX	TogoVar
SCGB1C2_chr17_132569_144067	136288	ACCCCTAA others(80): Show ACCCCTAACCAACCCTAACCCTAACCCTAACCCTAACCCCTAACCCCTAA CCCTAACCCTAACCCTAACCCTAACCCTAACCCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19012.hp2 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0008 a0005c0007 a0001c0001 a0003c0008 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0003c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0008t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0003g0005 a0003c0008t0001g0007 a0005c0007t0001g0002	121	402	0.3010	-87	c.-13 others(98): Show c.-1302_-1216delCCCCTAACCAACCCTAACCCTAACCCTAACCCTA ACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCCT AAC		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					1280		chr17	TogoVar
SCN7A_chr2_166398573_166499249	166414868	ATATTATA others(80): Show ATATTATATAGGATAATATATAATATATATTATTATATAGGATAATATAT AATATATATTATTATATAGGATAATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0065 a0001c0010t0009g0065	1	261	0.0038	-87	c.341 others(106): Show c.3414+1752_3415-1748delATATATATTATATATTATCCTATATA ATAATATATATTATATATTATCCTATATAATAATATATATTATATATTAT CCTATATAATA		SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25						chr2	TogoVar
SCN9A_chr2_166190185_166380944	166201428	CTATATAT others(80): Show CTATATATAGTATAGAGTATGCGTATACTATATATATAGTATAGAGTATG CGTATACTATATATATAGTATAGAGTATGCGTATACTA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0077 a0004c0008t0006g0077	1	242	0.0041	-87	c.477 others(106): Show c.4775-1651_4775-1565delTAGTATACGCATACTCTATACTATAT ATATAGTATACGCATACTCTATACTATATATATAGTATACGCATACTCTA TACTATATATA		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26						chr2	TogoVar
SCN9A_chr2_166190185_166380944	166201566	GTATACTA others(80): Show GTATACTATATATATAGTATAGAGTATGCGTATACTATATATATAGTATA GAGTATGCGTATACTATATATATAGTATAGAGTATGTA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00621.hp2 others(63): Show HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02257.hp2 HG02293.hp1 HG02698.hp1 HG02735.hp1 HG03017.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp2 HG03927.hp2 HG04228.hp1 NA18942.hp2 NA18953.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19063.hp1 NA19066.hp2 NA19091.hp2	a0001 a0002 a0006 others(4): Show a0001 a0002 a0006 a0017 a0023 a0027 a0028	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0017 a0001c0059 a0002c0015 a0006c0010 a0017c0055 a0023c0037 a0027c0070 a0028c0069	a0001c0001t0002 a0001c0001t0017 a0001c0001t0025 others(22): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0025 a0001c0002t0002 a0001c0002t0010 a0001c0002t0028 a0001c0002t0031 a0001c0002t0035 a0001c0003t0002 a0001c0003t0010 a0001c0003t0027 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0012t0002 a0001c0017t0002 a0001c0059t0002 a0002c0015t0005 a0006c0010t0002 a0017c0055t0002 a0023c0037t0001 a0027c0070t0002 a0028c0069t0002	a0001c0001t0002g0038 a0001c0001t0002g0064 a0001c0001t0002g0065 others(63): Show a0001c0001t0002g0038 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0179 a0001c0001t0002g0189 a0001c0001t0017g0111 a0001c0001t0017g0112 a0001c0001t0025g0103 a0001c0002t0002g0075 a0001c0002t0002g0116 a0001c0002t0002g0131 a0001c0002t0002g0135 a0001c0002t0002g0170 a0001c0002t0002g0227 a0001c0002t0010g0007 a0001c0002t0028g0253 a0001c0002t0031g0132 a0001c0002t0035g0295 a0001c0003t0002g0057 a0001c0003t0002g0081 a0001c0003t0002g0105 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0284 a0001c0003t0010g0003 a0001c0003t0010g0004 a0001c0003t0010g0008 a0001c0003t0027g0241 a0001c0004t0002g0056 a0001c0004t0002g0087 a0001c0004t0002g0095 a0001c0004t0002g0211 a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0002g0145 a0001c0005t0002g0146 a0001c0005t0002g0166 a0001c0006t0001g0245 a0001c0006t0002g0033 a0001c0006t0002g0034 a0001c0006t0002g0035 a0001c0006t0002g0272 a0001c0012t0002g0117 a0001c0012t0002g0178 a0001c0017t0002g0123 a0001c0059t0002g0244 a0002c0015t0005g0058 a0006c0010t0002g0113 a0017c0055t0002g0187 a0023c0037t0001g0239 a0027c0070t0002g0140 a0028c0069t0002g0118	66	294	0.2245	-87	c.477 others(106): Show c.4775-1789_4775-1703delTACATACTCTATACTATATATATAGT ATACGCATACTCTATACTATATATATAGTATACGCATACTCTATACTATA TATATAGTATA		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	26/26						chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23316705	CATCACCA others(80): Show CATCACCACCATCACCCTCACCATCTCCTCTGTCATCACTGTCACCATCC TCACCATCATCACCATCACCATCATCAACACCATCACT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01516.hp2 HG01243.hp1 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0005 a0001c0009t0001 a0001c0002t0005 a0001c0009t0001	a0001c0002t0005g0150 a0001c0009t0001g0163 a0001c0002t0005g0150 a0001c0009t0001g0163	2	304	0.0066	-87	c.-9+ others(104): Show c.-9+14298_-9+14384delTGTCATCACTGTCACCATCCTCACCATC ATCACCATCACCATCATCAACACCATCACTATCACCACCATCACCCTCAC CATCTCCTC		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289785	CCCCGTGT others(80): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp1 HG02258.hp1 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0220 a0004c0008t0001g0223 a0001c0001t0001g0220 a0004c0008t0001g0223	2	251	0.0080	-87	c.166 others(104): Show c.1663-477_1663-391delCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCG TCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289841	TCCCGTGT others(80): Show TCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0030 a0030	a0030c0031 a0030c0031	a0030c0031t0001 a0030c0031t0001	a0030c0031t0001g0039 a0030c0031t0001g0039	1	274	0.0036	-87	c.166 others(104): Show c.1663-421_1663-335delCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYGR5_chr2_227661804_227672061	227666834	GGCTGCGG others(80): Show GGCTGCGGTGGCGGCTGTGGTGGTGGCTGTGGCAGCTGCACCACCTGCAG GTGCTACCGGGTGGGCTGCTGCTCCAGCTGCTGCCCCT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02148.hp1 HG02148.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0000 a0007c0008t0001g0000	1	458	0.0022	-87	c.37_ others(93): Show c.37_123delGGTGGCGGCTGTGGTGGTGGCTGTGGCAGCTGCACCACC TGCAGGTGCTACCGGGTGGGCTGCTGCTCCAGCTGCTGCCCCTGCTGC	p.Gly others(11): Show p.Gly13_Cys41del	SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding	1/1	37/258	37/258	13/85		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEC11A_chr15_84664544_84721139	84685621	CCTCCAGC others(80): Show CCTCCAGCTTAAACAAGGCCTGAGCTTAATTTGATTCTCTCTGATATATT TAGGGGAAAGTTGGTTCAGCTTTGTTCACAACAGGCAT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	318	0.0031	-87	c.311 others(104): Show c.311+1917_311+2003delATGCCTGTTGTGAACAAAGCTGAACCAA CTTTCCCCTAAATATATCAGAGAGAATCAAATTAAGCTCAGGCCTTGTTT AAGCTGGAG		SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	3/5						chr15	TogoVar
SEMA3E_chr7_83358238_83654139	83389701	CACATATA others(80): Show CACATATATACACGTATATATTACATGTATACATATATACACGTATATAT TACATGTATACATATATACACGTATATATTACATGTAT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0062 a0002c0004t0062	a0002c0004t0062g0181 a0002c0004t0062g0181	1	151	0.0066	-87	c.166 others(106): Show c.1668-2738_1668-2652delATACATGTAATATATACGTGTATATA TGTATACATGTAATATATACGTGTATATATGTATACATGTAATATATACG TGTATATATGT		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16						chr7	TogoVar
SF3A1_chr22_30326988_30361894	30341517	CGGAGCTG others(80): Show CGGAGCTGGAAAGAGGCTCTGTGCTGCCTGGACTTGGGCAGCTGTATGGC CTTGTTCAGGACCCACGCCTCCTTTCAAGGCTCACAGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp2 others(41): Show HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG02015.hp1 HG02055.hp1 HG02083.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03831.hp2 HG04228.hp1 NA18747.hp1 NA18951.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp2 NA18978.hp1 NA18990.hp1 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp2 NA19081.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0021 a0001c0002t0004g0026 others(25): Show a0001c0002t0004g0011 a0001c0002t0004g0021 a0001c0002t0004g0026 a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0060 a0001c0002t0004g0150 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0165 a0001c0002t0004g0166 a0001c0002t0004g0167 a0001c0002t0004g0168	44	400	0.1100	-87	c.107 others(103): Show c.1071+88_1071+174delCCTGTGAGCCTTGAAAGGAGGCGTGGGTC CTGAACAAGGCCATACAGCTGCCCAAGTCCAGGCAGCACAGAGCCTCTTT CCAGCTCC		SF3A1	ENSG00000099995.19	transcript	ENST00000215793.13	protein_coding	7/15						chr22	TogoVar
SH3PXD2A_chr10_103589027_103860576	103701018	CACCATCC others(80): Show CACCATCCATCCATCCATCCATCCACCATCCATCCATCCATCCATCATCC ATCCATCCATCCATCATCCATTTACCATCTATCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(179): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0014 a0001c0023 a0002c0006 a0004c0011 a0005c0012 a0008c0025 a0009c0018 a0010c0022 a0011c0020	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(106): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0063 a0001c0001t0064 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0081 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0097 a0001c0001t0099 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0112 a0001c0001t0113 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0019 a0001c0002t0025 a0001c0002t0026 a0001c0002t0036 a0001c0002t0037 a0001c0002t0047 a0001c0002t0050 a0001c0002t0073 a0001c0002t0074 a0001c0002t0076 a0001c0002t0077 a0001c0002t0115 a0001c0002t0119 a0001c0002t0121 a0001c0002t0122 a0001c0002t0128 a0001c0003t0003 a0001c0003t0011 a0001c0003t0015 a0001c0003t0032 a0001c0003t0033 a0001c0003t0034 a0001c0003t0035 a0001c0003t0058 a0001c0003t0060 a0001c0003t0061 a0001c0003t0065 a0001c0003t0072 a0001c0003t0080 a0001c0003t0094 a0001c0003t0098 a0001c0003t0100 a0001c0003t0101 a0001c0003t0105 a0001c0004t0013 a0001c0005t0007 a0001c0005t0016 a0001c0005t0046 a0001c0005t0070 a0001c0005t0071 a0001c0005t0116 a0001c0008t0027 a0001c0008t0051 a0001c0008t0079 a0001c0008t0126 a0001c0008t0127 a0001c0009t0039 a0001c0009t0089 a0001c0009t0090 a0001c0010t0038 a0001c0010t0129 a0001c0014t0006 a0001c0023t0021 a0002c0006t0003 a0002c0006t0004 a0002c0006t0018 a0002c0006t0031 a0002c0006t0056 a0002c0006t0057 a0002c0006t0059 a0002c0006t0096 a0004c0011t0108 a0004c0011t0110 a0004c0011t0111 a0004c0011t0114 a0005c0012t0007 a0008c0025t0003 a0009c0018t0008 a0010c0022t0102 a0011c0020t0123	a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(178): Show a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 a0001c0001t0003g0138 a0001c0001t0003g0186 a0001c0001t0004g0020 a0001c0001t0004g0052 a0001c0001t0004g0056 a0001c0001t0004g0083 a0001c0001t0005g0147 a0001c0001t0005g0185 a0001c0001t0005g0221 a0001c0001t0005g0228 a0001c0001t0005g0229 a0001c0001t0005g0232 a0001c0001t0006g0089 a0001c0001t0006g0171 a0001c0001t0006g0241 a0001c0001t0006g0243 a0001c0001t0017g0005 a0001c0001t0017g0010 a0001c0001t0017g0030 a0001c0001t0021g0148 a0001c0001t0021g0204 a0001c0001t0022g0100 a0001c0001t0022g0110 a0001c0001t0022g0140 a0001c0001t0023g0099 a0001c0001t0024g0172 a0001c0001t0024g0212 a0001c0001t0024g0230 a0001c0001t0030g0023 a0001c0001t0030g0082 a0001c0001t0031g0079 a0001c0001t0040g0170 a0001c0001t0040g0234 a0001c0001t0041g0200 a0001c0001t0041g0218 a0001c0001t0042g0096 a0001c0001t0042g0162 a0001c0001t0043g0193 a0001c0001t0043g0195 a0001c0001t0044g0219 a0001c0001t0044g0244 a0001c0001t0045g0094 a0001c0001t0045g0098 a0001c0001t0063g0016 a0001c0001t0064g0047 a0001c0001t0066g0004 a0001c0001t0067g0076 a0001c0001t0068g0067 a0001c0001t0081g0133 a0001c0001t0092g0097 a0001c0001t0093g0107 a0001c0001t0095g0121 a0001c0001t0097g0167 a0001c0001t0099g0203 a0001c0001t0103g0117 a0001c0001t0104g0205 a0001c0001t0106g0173 a0001c0001t0107g0158 a0001c0001t0109g0220 a0001c0001t0112g0245 a0001c0001t0113g0233 a0001c0002t0002g0006 a0001c0002t0002g0017 a0001c0002t0002g0025 a0001c0002t0002g0028 a0001c0002t0002g0037 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0008g0166 a0001c0002t0008g0168 a0001c0002t0008g0180 a0001c0002t0008g0238 a0001c0002t0009g0088 a0001c0002t0009g0144 a0001c0002t0009g0190 a0001c0002t0009g0227 a0001c0002t0012g0022 a0001c0002t0012g0050 a0001c0002t0019g0019 a0001c0002t0019g0057 a0001c0002t0019g0062 a0001c0002t0025g0001 a0001c0002t0025g0223 a0001c0002t0026g0155 a0001c0002t0026g0199 a0001c0002t0026g0214 a0001c0002t0036g0018 a0001c0002t0036g0026 a0001c0002t0037g0009 a0001c0002t0037g0040 a0001c0002t0047g0206 a0001c0002t0050g0156 a0001c0002t0073g0014 a0001c0002t0074g0084 a0001c0002t0076g0066 a0001c0002t0077g0042 a0001c0002t0115g0132 a0001c0002t0119g0114 a0001c0002t0121g0161 a0001c0002t0122g0217 a0001c0002t0128g0134 a0001c0003t0003g0210 a0001c0003t0011g0013 a0001c0003t0011g0027 a0001c0003t0011g0034 a0001c0003t0011g0038 a0001c0003t0015g0135 a0001c0003t0015g0136 a0001c0003t0015g0181 a0001c0003t0015g0239 a0001c0003t0032g0003 a0001c0003t0032g0044 a0001c0003t0033g0065 a0001c0003t0033g0085 a0001c0003t0034g0033 a0001c0003t0035g0058 a0001c0003t0035g0059 a0001c0003t0058g0064 a0001c0003t0060g0032 a0001c0003t0061g0060 a0001c0003t0065g0024 a0001c0003t0072g0007 a0001c0003t0080g0086 a0001c0003t0094g0213 a0001c0003t0098g0179 a0001c0003t0100g0184 a0001c0003t0101g0182 a0001c0003t0105g0209 a0001c0004t0013g0201 a0001c0005t0007g0178 a0001c0005t0007g0187 a0001c0005t0007g0211 a0001c0005t0016g0242 a0001c0005t0046g0164 a0001c0005t0046g0236 a0001c0005t0070g0015 a0001c0005t0071g0048 a0001c0005t0116g0103 a0001c0008t0027g0160 a0001c0008t0027g0175 a0001c0008t0027g0215 a0001c0008t0051g0247 a0001c0008t0051g0248 a0001c0008t0079g0045 a0001c0008t0126g0163 a0001c0008t0127g0090 a0001c0009t0039g0112 a0001c0009t0039g0113 a0001c0009t0089g0222 a0001c0009t0090g0095 a0001c0010t0038g0092 a0001c0010t0038g0093 a0001c0010t0129g0249 a0001c0014t0006g0111 a0001c0014t0006g0174 a0001c0023t0021g0128 a0002c0006t0003g0125 a0002c0006t0003g0127 a0002c0006t0004g0043 a0002c0006t0004g0074 a0002c0006t0018g0008 a0002c0006t0018g0078 a0002c0006t0018g0080 a0002c0006t0031g0072 a0002c0006t0056g0046 a0002c0006t0057g0029 a0002c0006t0059g0081 a0002c0006t0096g0197 a0004c0011t0108g0225 a0004c0011t0110g0169 a0004c0011t0111g0226 a0004c0011t0114g0106 a0005c0012t0007g0130 a0005c0012t0007g0131 a0008c0025t0003g0152 a0009c0018t0008g0153 a0010c0022t0102g0216 a0011c0020t0123g0189	182	248	0.7339	-87	c.399 others(104): Show c.399-8049_399-7963delAGATGGATAGATGGTAAATGGATGATGG ATGGATGGATGGATGATGGATGGATGGATGGATGGTGGATGGATGGATGG ATGGATGGT		SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	5/14						chr10	TogoVar
SHOC1_chr9_111681171_111799937	111791752	GTAACCAT others(80): Show GTAACCATATTTCTCAAGTGGTCTTGAGAATAACCATATTTCTCAAGTGG TCTTGAGAATAACCATATTTCTCAAGTGGTCTTGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01884.hp2 HG03491.hp1 others(3): Show HG00408.hp2 HG01884.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp2 NA18998.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0007 a0002c0010 a0003c0003 others(1): Show a0002c0007 a0002c0010 a0003c0003 a0005c0005	a0002c0007t0006 a0002c0010t0004 a0003c0003t0002 others(1): Show a0002c0007t0006 a0002c0010t0004 a0003c0003t0002 a0005c0005t0003	a0002c0007t0006g0207 a0002c0010t0004g0165 a0003c0003t0002g0020 others(2): Show a0002c0007t0006g0207 a0002c0010t0004g0165 a0003c0003t0002g0020 a0003c0003t0002g0082 a0005c0005t0003g0006	6	56	0.1071	-87	c.-36 others(102): Show c.-36-385_-36-299delTTCTCAAGACCACTTGAGAAATATGGTTAT TCTCAAGACCACTTGAGAAATATGGTTATTCTCAAGACCACTTGAGAAAT ATGGTTA		SHOC1	ENSG00000165181.17	transcript	ENST00000682961.1	protein_coding	1/27						chr9	TogoVar
SIGLEC15_chr18_45820675_45849094	45832259	ATTATATA others(80): Show ATTATATAACTTGCCCAAAGATCACCCAGTAAGTGAAGGAGCCTAGGACG TGCCAGGCACAGATTGGGTGCTTGATAAAAGTCTGATG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0090 a0003c0005t0001g0090	1	407	0.0025	-87	c.53- others(102): Show c.53-4595_53-4509delTTATATAACTTGCCCAAAGATCACCCAGTA AGTGAAGGAGCCTAGGACGTGCCAGGCACAGATTGGGTGCTTGATAAAAG TCTGATG		SIGLEC15	ENSG00000197046.12	transcript	ENST00000389474.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr18	TogoVar
SKI_chr1_2223319_2315213	2280714	CGGCGGCG others(80): Show CGGCGGCGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18944.hp1 NA18950.hp2 others(1): Show HG00544.hp1 NA18944.hp1 NA18950.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0078 a0001c0001t0002 a0001c0001t0004 a0001c0001t0078	a0001c0001t0002g0153 a0001c0001t0004g0114 a0001c0001t0004g0116 others(1): Show a0001c0001t0002g0153 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0078g0127	4	323	0.0124	-87	c.970 others(106): Show c.970-22258_970-22172delCGATCTTCAGAGAGAGAGATGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACA GGCGGTGGCGG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2280720	CGATCTTC others(80): Show CGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCT TCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01169.hp2 HG01261.hp1 others(12): Show HG00673.hp2 HG01169.hp2 HG01261.hp1 HG02155.hp2 HG02630.hp2 HG02809.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp2 HG06807.hp1 NA18971.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0033 a0001c0001t0037 a0001c0001t0044 a0001c0001t0063 a0001c0001t0064 a0001c0001t0075 a0001c0001t0086	a0001c0001t0001g0272 a0001c0001t0002g0128 a0001c0001t0004g0008 others(12): Show a0001c0001t0001g0272 a0001c0001t0002g0128 a0001c0001t0004g0008 a0001c0001t0006g0325 a0001c0001t0011g0265 a0001c0001t0011g0266 a0001c0001t0013g0176 a0001c0001t0022g0090 a0001c0001t0033g0189 a0001c0001t0037g0213 a0001c0001t0044g0295 a0001c0001t0063g0312 a0001c0001t0064g0313 a0001c0001t0075g0112 a0001c0001t0086g0167	15	300	0.0500	-87	c.970 others(106): Show c.970-22242_970-22156delAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282031	CGCCCGAG others(80): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA20805.hp1 HG00438.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0074 a0001c0001t0006 a0001c0001t0074	a0001c0001t0006g0076 a0001c0001t0074g0022 a0001c0001t0006g0076 a0001c0001t0074g0022	2	246	0.0081	-87	c.970 others(106): Show c.970-20863_970-20777delAGATGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAG		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2282031	CGCCCGAG others(80): Show CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGAT	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18906.hp2 HG03540.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0304 a0001c0001t0009g0309 a0001c0001t0001g0304 a0001c0001t0009g0309	2	246	0.0081	-87	c.970 others(106): Show c.970-20947_970-20861delCGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAGAGA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6						chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1096687	GGGGGGAA others(80): Show GGGGGGAAGGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGAGGGGGG AAGGGAGGGAAGGAAGGAGGGAGGAAGGAAAGGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0114 a0001c0009t0002g0114	1	117	0.0085	-87	c.125 others(104): Show c.125-2526_125-2440delTCCCTCCTTTCCTTCCTCCCTCCTTCCT TCCCTCCCTTCCCCCCTCCCTCCTTTCCTTCCTCCCTCCTTCCTTCCCTC CCTTCCCCC		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23						chr5	TogoVar
SLC26A3_chr7_107760469_107808223	107770153	CTTTTTTT others(80): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG01169.hp1 others(46): Show HG00280.hp1 HG00673.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp1 HG02132.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG03130.hp2 HG03239.hp1 HG03453.hp1 HG03704.hp2 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp2 NA18966.hp1 NA18967.hp2 NA18989.hp1 NA18991.hp1 NA19001.hp1 NA19004.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19072.hp2 NA19075.hp1 NA19078.hp1 NA19084.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0015 others(1): Show a0001c0001 a0001c0002 a0002c0015 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0002c0015t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0015t0001 a0003c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(41): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0243 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0313 a0001c0001t0001g0383 a0001c0002t0001g0076 a0001c0002t0001g0142 a0001c0002t0001g0146 a0002c0015t0001g0077 a0003c0004t0001g0026 a0003c0004t0001g0195 a0003c0004t0001g0286 a0003c0004t0001g0327	49	55	0.8909	-87	c.206 others(106): Show c.2062+1814_2062+1900delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAAAAA AAAAAAAAAAA		SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20						chr7	TogoVar
SLC45A4_chr8_141202174_141313288	141203418	AGAGAGGG others(80): Show AGAGAGGGAGAGAGGGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02896.hp1 others(3): Show HG02572.hp1 HG02615.hp2 HG02896.hp1 HG03195.hp2 HG03453.hp1 NA19043.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0008 a0001c0020 a0002c0001 others(1): Show a0001c0008 a0001c0020 a0002c0001 a0007c0019	a0001c0008t0005 a0001c0020t0005 a0002c0001t0001 others(2): Show a0001c0008t0005 a0001c0020t0005 a0002c0001t0001 a0002c0001t0004 a0007c0019t0005	a0001c0008t0005g0142 a0001c0008t0005g0143 a0001c0020t0005g0140 others(3): Show a0001c0008t0005g0142 a0001c0008t0005g0143 a0001c0020t0005g0140 a0002c0001t0001g0035 a0002c0001t0004g0012 a0007c0019t0005g0141	6	181	0.0331	-87	c.80 others(98): Show c.8067_*8153delCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTCTCCCTCTCTCCCT CTC		SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding					3755		chr8	TogoVar
SLC9A8_chr20_49807828_49897242	49834350	GTATATAT others(80): Show GTATATATATATATACTGTGTATATATATATATACTGTGTATATATATAT ACTGTGTATATATATATACTGTATATATATACTGTATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0171 a0001c0003t0001g0171	1	288	0.0035	-87	c.290 others(104): Show c.290-5178_290-5092delTACTGTGTATATATATATATACTGTGTA TATATATATACTGTGTATATATATATACTGTATATATATACTGTATATAT ATATATATA		SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLIT2_chr4_20246905_20625561	20620959	GTCTGGGA others(80): Show GTCTGGGAGGAATAATCCTCATCAACCATGATAAGATTTTGTCTTTGTTT CCCTGTAAACAAACAAACAAACAAAAAACCATGCACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0032 a0001c0002t0060g0032	1	228	0.0044	-87	c.19 others(98): Show c.1951_*2037delTCTGGGAGGAATAATCCTCATCAACCATGATAAG ATTTTGTCTTTGTTTCCCTGTAAACAAACAAACAAACAAAAAACCATGCA CAC		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding					399		chr4	TogoVar
SMIM10L1_chr12_11166194_11181016	11168264	GAAAGAAA others(80): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01168.hp1 HG01346.hp2 others(7): Show HG00735.hp1 HG01168.hp1 HG01346.hp2 HG01934.hp2 HG02004.hp1 HG02257.hp1 HG02258.hp1 HG02818.hp1 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	10	384	0.0260	-87	c.-30 others(98): Show c.-3092_-3006delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAA GAA		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					2929		chr12	TogoVar
SMIM8_chr6_87317588_87347329	87323031	TGCTTTTT others(80): Show TGCTTTTTCAGCCCTGCAACACAATGTGTAGAACTTAACGGAATGAAGTT TTCTTTTGGAGGCTTCCAATGCGTCTGTCTTTGAGTAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02572.hp1 others(16): Show HG01891.hp2 HG02055.hp2 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0005 a0001c0001 a0002c0003 a0004c0005	a0001c0001t0002 a0001c0001t0027 a0002c0003t0004 others(2): Show a0001c0001t0002 a0001c0001t0027 a0002c0003t0004 a0002c0003t0025 a0004c0005t0002	a0001c0001t0002g0033 a0001c0001t0002g0076 a0001c0001t0002g0084 others(13): Show a0001c0001t0002g0033 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0027g0077 a0002c0003t0004g0015 a0002c0003t0004g0072 a0002c0003t0004g0075 a0002c0003t0004g0079 a0002c0003t0004g0080 a0002c0003t0004g0081 a0002c0003t0004g0082 a0002c0003t0004g0083 a0002c0003t0025g0078 a0004c0005t0002g0033	19	418	0.0455	-87	c.-45 others(102): Show c.-45+402_-45+488delTTTTTCAGCCCTGCAACACAATGTGTAGAA CTTAACGGAATGAAGTTTTCTTTTGGAGGCTTCCAATGCGTCTGTCTTTG AGTAAGC		SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1221616	CTGTGTCT others(80): Show CTGTGTCTCGTGTCGGTGCTCCGGTTCCCCCCAACCTCTGTCTCGGTCCC CCCCGGTCTCGGTCTCTCTCTCTCTCGGTTCTTCTCGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02451.hp2 HG03831.hp1 others(7): Show HG00140.hp2 HG02451.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18942.hp1 NA18963.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0002 a0015 a0002 a0015	a0002c0003 a0002c0005 a0015c0025 a0002c0003 a0002c0005 a0015c0025	a0002c0003t0001 a0002c0005t0001 a0015c0025t0001 a0002c0003t0001 a0002c0005t0001 a0015c0025t0001	a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0064 others(7): Show a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0064 a0002c0003t0001g0122 a0002c0003t0001g0154 a0002c0003t0001g0161 a0002c0005t0001g0022 a0002c0005t0001g0121 a0002c0005t0001g0168 a0015c0025t0001g0034	10	184	0.0543	-87	c.719 others(106): Show c.719+12388_719+12474delGTGTCTCGTGTCGGTGCTCCGGTTCC CCCCAACCTCTGTCTCGGTCCCCCCCGGTCTCGGTCTCTCTCTCTCTCGG TTCTTCTCGGT		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1323460	GAGACCCC others(80): Show GAGACCCCCCAGTAGACTAGGACAAGACTAACAGTCACATGGCTGAGACC CCCTGTAGGCTGGGACATGGGTAACAGTCACATGGCTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00642.hp1 others(39): Show HG00099.hp1 HG00438.hp1 HG00642.hp1 HG00673.hp2 HG01081.hp2 HG01106.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02602.hp1 HG02630.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA19084.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0014 a0020	a0002c0003 a0002c0005 a0002c0022 others(6): Show a0002c0003 a0002c0005 a0002c0022 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0014c0032 a0020c0021	a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 others(7): Show a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0004c0004t0001 a0004c0014t0001 a0004c0014t0002 a0005c0006t0001 a0005c0015t0001 a0014c0032t0001 a0020c0021t0001	a0002c0003t0001g0015 a0002c0003t0001g0029 a0002c0003t0001g0052 others(39): Show a0002c0003t0001g0015 a0002c0003t0001g0029 a0002c0003t0001g0052 a0002c0003t0001g0064 a0002c0003t0001g0089 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0099 a0002c0003t0001g0108 a0002c0003t0001g0122 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0005t0001g0013 a0002c0005t0001g0021 a0002c0005t0001g0022 a0002c0005t0001g0107 a0002c0005t0001g0121 a0002c0005t0001g0156 a0002c0005t0001g0164 a0002c0022t0001g0155 a0004c0004t0001g0040 a0004c0004t0001g0065 a0004c0004t0001g0087 a0004c0004t0001g0112 a0004c0004t0001g0142 a0004c0004t0001g0169 a0004c0004t0001g0177 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0014t0001g0036 a0004c0014t0002g0001 a0005c0006t0001g0176 a0005c0006t0001g0189 a0005c0015t0001g0037 a0014c0032t0001g0062 a0020c0021t0001g0119	42	188	0.2234	-87	c.148 others(106): Show c.1488+7095_1488+7181delAGTAGACTAGGACAAGACTAACAGTC ACATGGCTGAGACCCCCTGTAGGCTGGGACATGGGTAACAGTCACATGGC TAAGACCCCCC		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1323478	AGGACAAG others(80): Show AGGACAAGACTAACAGTCACATGGCTGAGACCCCCTGTAGGCTGGGACAT GGGTAACAGTCACATGGCTAAGACCCCCCGGTAGACTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02572.hp1 others(7): Show HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02895.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 NA19043.hp2 NA21309.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0010	a0001c0002 a0003c0007 a0003c0026 others(3): Show a0001c0002 a0003c0007 a0003c0026 a0007c0016 a0007c0017 a0010c0013	a0001c0002t0002 a0003c0007t0001 a0003c0007t0002 others(4): Show a0001c0002t0002 a0003c0007t0001 a0003c0007t0002 a0003c0026t0001 a0007c0016t0001 a0007c0017t0001 a0010c0013t0001	a0001c0002t0002g0076 a0003c0007t0001g0007 a0003c0007t0001g0104 others(7): Show a0001c0002t0002g0076 a0003c0007t0001g0007 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0026t0001g0097 a0007c0016t0001g0032 a0007c0016t0001g0143 a0007c0017t0001g0106 a0010c0013t0001g0042	10	185	0.0541	-87	c.148 others(106): Show c.1488+7182_1488+7268delGGTAGACTGGGACAAGACTAACAGTC ACATGGCTGAGACCCCCTGTAGGCTGGGACATGGGTAACAGTCACATGGC TAAGACCCCCC		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7442324	CATCCCAG others(80): Show CATCCCAGATCACCCTCTACCCCCTCTCCCAGCCCAGGTCGTCATCCACC TCCTCTCACAGCCCAGGTCACCATCCACCCCCTCCCCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01069.hp1 others(31): Show HG00099.hp1 HG00099.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01934.hp1 HG01952.hp1 HG02109.hp1 HG02148.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18962.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20752.hp2	a0001 a0003 a0005 others(6): Show a0001 a0003 a0005 a0006 a0010 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0028 a0001c0041 a0001c0053 a0003c0012 a0005c0020 a0006c0008 a0010c0032 a0014c0052 a0015c0054 a0016c0040 a0017c0019	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(27): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0024 a0001c0002t0003 a0001c0002t0007 a0001c0002t0044 a0001c0002t0051 a0001c0003t0014 a0001c0005t0003 a0001c0005t0008 a0001c0009t0001 a0001c0009t0037 a0001c0010t0026 a0001c0011t0003 a0001c0014t0016 a0001c0016t0006 a0001c0028t0027 a0001c0041t0006 a0001c0053t0001 a0003c0012t0034 a0005c0020t0017 a0006c0008t0001 a0010c0032t0019 a0014c0052t0003 a0015c0054t0020 a0016c0040t0003 a0017c0019t0013	a0001c0001t0002g0067 a0001c0001t0003g0097 a0001c0001t0004g0053 others(31): Show a0001c0001t0002g0067 a0001c0001t0003g0097 a0001c0001t0004g0053 a0001c0001t0005g0014 a0001c0001t0005g0085 a0001c0001t0012g0137 a0001c0001t0024g0071 a0001c0001t0024g0072 a0001c0002t0003g0018 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0044g0019 a0001c0002t0051g0004 a0001c0003t0014g0034 a0001c0005t0003g0032 a0001c0005t0003g0101 a0001c0005t0008g0154 a0001c0009t0001g0151 a0001c0009t0037g0042 a0001c0010t0026g0105 a0001c0011t0003g0120 a0001c0014t0016g0139 a0001c0016t0006g0039 a0001c0028t0027g0152 a0001c0041t0006g0031 a0001c0053t0001g0044 a0003c0012t0034g0010 a0005c0020t0017g0037 a0006c0008t0001g0029 a0010c0032t0019g0149 a0014c0052t0003g0030 a0015c0054t0020g0113 a0016c0040t0003g0024 a0017c0019t0013g0027	34	102	0.3333	-87	c.548 others(106): Show c.548+45971_548+46057delTCCCAGATCACCCTCTACCCCCTCTC CCAGCCCAGGTCGTCATCCACCTCCTCTCACAGCCCAGGTCACCATCCAC CCCCTCCCCGA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPECC1_chr17_20004359_20324026	20195924	GCTGAATA others(80): Show GCTGAATAATACCCCTTTAATTTAGCCAATGTCCACACACTGGCTATTTT AATTTGCTCTAAGAAACCAATTTTAATTTATAGAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0199 a0001c0001t0083g0199	1	248	0.0040	-87	c.284 others(104): Show c.284-8369_284-8283delTGGCTATTTTAATTTGCTCTAAGAAACC AATTTTAATTTATAGAAAAACTGAATAATACCCCTTTAATTTAGCCAATG TCCACACAC		SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
STAU2_chr8_73415369_73751840	73695361	GCCAGAAA others(80): Show GCCAGAAAGGAACCCACTGCCTTGAAGGTAAGGACTCAATCCTGGCAGGA TTCATTACCTGCTGACCAAAGAACCAATGGGTCCTGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00733.hp1 HG00738.hp1 others(25): Show HG00438.hp1 HG00733.hp1 HG00738.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01975.hp1 HG02015.hp1 HG02083.hp2 HG02165.hp1 HG02257.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03654.hp1 HG03704.hp2 NA18522.hp1 NA18956.hp2 NA18971.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19068.hp1 NA19079.hp1 NA19084.hp2 NA20805.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0006t0001 a0001c0001t0001 a0001c0001t0005 a0001c0006t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(25): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0005g0053 a0001c0006t0001g0049 a0001c0006t0001g0050	28	238	0.1176	-87	c.115 others(104): Show c.115-6635_115-6549delTTCAGGACCCATTGGTTCTTTGGTCAGC AGGTAATGAATCCTGCCAGGATTGAGTCCTTACCTTCAAGGCAGTGGGTT CCTTTCTGG		STAU2	ENSG00000040341.18	transcript	ENST00000524300.6	protein_coding	4/14						chr8	TogoVar
STIM1_chr11_3850664_4098208	3895737	TTTCTTTC others(80): Show TTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTTCTTTCCTTCCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01981.hp2 HG02027.hp2 others(10): Show HG00558.hp1 HG01981.hp2 HG02027.hp2 HG02148.hp2 HG03688.hp1 HG03831.hp2 NA18975.hp2 NA18984.hp2 NA18991.hp1 NA19063.hp1 NA19064.hp2 NA19070.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0012 a0001c0003t0006	a0001c0001t0004g0023 a0001c0001t0007g0221 a0001c0001t0007g0227 others(10): Show a0001c0001t0004g0023 a0001c0001t0007g0221 a0001c0001t0007g0227 a0001c0001t0007g0228 a0001c0001t0007g0267 a0001c0001t0008g0107 a0001c0002t0001g0106 a0001c0002t0002g0266 a0001c0002t0002g0269 a0001c0002t0006g0234 a0001c0002t0010g0170 a0001c0002t0012g0020 a0001c0003t0006g0218	13	290	0.0448	-87	c.139 others(106): Show c.139+39331_139+39417delCTTTCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTT CCTTCTTTCTT		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
STK32B_chr4_5046480_5505989	5316414	ATATATTA others(80): Show ATATATTACATATATAATATATAATATATATTACATATATAATATATAAT ATATATTACATATATAATATATAATATATATTACATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03471.hp1 HG02559.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0022 a0002c0002t0001 a0001c0001t0022 a0002c0002t0001	a0001c0001t0022g0134 a0002c0002t0001g0145 a0001c0001t0022g0134 a0002c0002t0001g0145	2	168	0.0119	-87	c.261 others(106): Show c.261-14805_261-14719delTATATTACATATATAATATATAATAT ATATTACATATATAATATATAATATATATTACATATATAATATATAATAT ATATTACATAT		STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11						chr4	TogoVar
STON1_chr2_48525154_48603513	48564527	TCTTCTTC others(80): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCC TTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	370	0.0027	-87	c.-47 others(106): Show c.-47-16054_-47-15968delTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTTCTC CTTCTCCTTCT		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L1_chr2_85128392_85315387	85152649	GGTCTTAA others(80): Show GGTCTTAAACTCTAGACCTCGGGTTATCTGCCCATCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACCACGTCCAGCCTA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG01109.hp1 others(23): Show HG00597.hp1 HG00639.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG02148.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp1 NA18983.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 a0002c0009t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0148 others(23): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0002g0105 a0001c0001t0002g0165 a0001c0001t0002g0210 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0057 a0002c0002t0001g0089 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0058 a0002c0002t0008g0059 a0002c0002t0012g0021 a0002c0009t0001g0019	26	234	0.1111	-87	c.441 others(106): Show c.441+18204_441+18290delTAAACTCTAGACCTCGGGTTATCTGC CCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGTC CAGCCTAGTCT		TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX10_chr9_100297084_100357942	100299501	CCAGCCTT others(80): Show CCAGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTATTGAC ACACAACACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02080.hp1 HG00735.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0093 a0001c0001t0001g0026 a0001c0001t0001g0093	2	244	0.0082	-87	c.26 others(98): Show c.2603_*2689delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT GTGTGTCAATAAAAGGCTCTGCTGAGATTCTTGGTGGGTGGTTTGCAAGG CTG		TEX10	ENSG00000136891.14	transcript	ENST00000374902.9	protein_coding					2582		chr9	TogoVar
TFF2_chr21_42341357_42355994	42348872	CCCCAGAC others(80): Show CCCCAGACTAACCAACCTGGGCTAGCCCTAGACTACCTCTAGACTAGCAG TCCTCTAGGCTACCTCTAGACTAGCAGTCCAGGCTAGT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	452	0.0022	-87	c.229 others(103): Show c.229+922_229+1008delACTAGCCTGGACTGCTAGTCTAGAGGTAG CCTAGAGGACTGCTAGTCTAGAGGTAGTCTAGGGCTAGCCCAGGTTGGTT AGTCTGGG		TFF2	ENSG00000160181.9	transcript	ENST00000291526.5	protein_coding	2/3						chr21	TogoVar
THBS4_chr5_80030348_80088287	80056678	GAACTAGT others(80): Show GAACTAGTATTCTTTGTCCTTTCCAATAATGTATAACTGGTTAAAGTTCC TGAATTTCATCCGCTATATAAGCCAATGTCAAATCAGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0315 a0002c0004t0001g0315	1	392	0.0026	-87	c.540 others(102): Show c.540+652_540+738delGTATTCTTTGTCCTTTCCAATAATGTATAA CTGGTTAAAGTTCCTGAATTTCATCCGCTATATAAGCCAATGTCAAATCA GTAACTA		THBS4	ENSG00000113296.14	transcript	ENST00000350881.6	protein_coding	3/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
THEG_chr19_356747_381026	365595	ATACAGCC others(80): Show ATACAGCCACACTCTTACCCCCACATAGCAAGTGCGAGCACACACAGCCA CACACTCGCTCTTACCCCCACCACACAGCAAGTGTGAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03209.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	2	368	0.0054	-87	c.913 others(104): Show c.913+1383_913+1469delCTCACACTTGCTGTGTGGTGGGGGTAAG AGCGAGTGTGTGGCTGTGTGTGCTCGCACTTGCTATGTGGGGGTAAGAGT GTGGCTGTA		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	7/7						chr19	TogoVar
THSD7B_chr2_136760545_137682718	136890375	TCCTCTTC others(80): Show TCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG03225.hp2 HG02258.hp1 HG02630.hp2 HG03225.hp2	a0001 a0014 a0001 a0014	a0001c0010 a0001c0021 a0014c0038 a0001c0010 a0001c0021 a0014c0038	a0001c0010t0002 a0001c0021t0004 a0014c0038t0007 a0001c0010t0002 a0001c0021t0004 a0014c0038t0007	a0001c0010t0002g0053 a0001c0021t0004g0071 a0014c0038t0007g0010 a0001c0010t0002g0053 a0001c0021t0004g0071 a0014c0038t0007g0010	3	95	0.0316	-87	c.139 others(104): Show c.139+8060_139+8146delCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTCC		THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr2	TogoVar
TLK2_chr17_62473825_62620481	62587952	ATGTATAT others(80): Show ATGTATATGTATAAAATATACGTATACATCTGTATATGTATAAAATATAC GTATACATCTGTATATGTATAAAATATACGTATACATC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG02818.hp2 others(9): Show HG01109.hp2 HG02451.hp1 HG02818.hp2 HG02897.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 a0001c0001t0026 a0001c0001t0027 a0001c0002t0003	a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0010g0280 others(9): Show a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0010g0280 a0001c0001t0010g0281 a0001c0001t0010g0282 a0001c0001t0010g0283 a0001c0001t0017g0279 a0001c0001t0017g0284 a0001c0001t0026g0278 a0001c0001t0027g0277 a0001c0002t0003g0064 a0001c0002t0003g0065	12	109	0.1101	-87	c.146 others(106): Show c.1460+1844_1460+1930delGTATATGTATAAAATATACGTATACA TCTGTATATGTATAAAATATACGTATACATCTGTATATGTATAAAATATA CGTATACATCT		TLK2	ENSG00000146872.19	transcript	ENST00000346027.10	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr17	TogoVar
TMEM170A_chr16_75438054_75469689	75454151	CATTGTGG others(80): Show CATTGTGGGGGCTGCACTGTGCACTGCAGGATATGGAGAGGCACCTCTGG CCTGCAGCACTCTATTCCCAGTTGTGTCAACCAAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp1 HG00735.hp2 others(7): Show HG00099.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01993.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0070 others(5): Show a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0112 a0001c0001t0004g0113	10	360	0.0278	-87	c.134 others(104): Show c.134-2399_134-2313delATTTTTGGTTGACACAACTGGGAATAGA GTGCTGCAGGCCAGAGGTGCCTCTCCATATCCTGCAGTGCACAGTGCAGC CCCCACAAT		TMEM170A	ENSG00000166822.13	transcript	ENST00000561878.2	protein_coding	1/2						chr16	TogoVar
TMEM98_chr17_32923153_32949315	32928749	GTCACACA others(80): Show GTCACACACACAAGCACACTAAGAAACATTCAGTTCACACACACTCAGAA ACACACGCACTCAGAAGCACACAAGATAAACACTCAGC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	400	0.0025	-87	c.-13 others(104): Show c.-131+522_-131+608delCAAGCACACTAAGAAACATTCAGTTCAC ACACACTCAGAAACACACGCACTCAGAAGCACACAAGATAAACACTCAGC TCACACACA		TMEM98	ENSG00000006042.12	transcript	ENST00000579849.6	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
TMPRSS13_chr11_117895641_117934402	117934069	TAAACGCA others(80): Show TAAACGCAGGGGCCCCAGGGTTTCTCTTAGTCATGGAGTTTACTGCCCCT TTGTGTCTTGTTCAGGGCAACAGGGGGCAGAGTGGGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0226 a0001c0001t0021g0226	1	460	0.0022	-87	c.-48 others(98): Show c.-4849_-4763delGTCCCACTCTGCCCCCTGTTGCCCTGAACAAGAC ACAAAGGGGCAGTAAACTCCATGACTAAGAGAAACCCTGGGGCCCCTGCG TTT		TMPRSS13	ENSG00000137747.16	transcript	ENST00000524993.6	protein_coding					4668		chr11	TogoVar
TMPRSS4_chr11_118072078_118126890	118096932	GAAAGAGA others(80): Show GAAAGAGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01192.hp1 HG01257.hp2 others(4): Show HG00140.hp2 HG01192.hp1 HG01257.hp2 HG01516.hp2 HG02523.hp2 HG03017.hp2 NA19070.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0003c0004 a0009c0015 a0001c0001 a0003c0004 a0009c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0035 a0003c0004t0009 a0009c0015t0001	a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0001g0269 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0084 a0001c0001t0001g0269 a0001c0001t0004g0260 a0001c0001t0035g0262 a0003c0004t0009g0221 a0009c0015t0001g0264	7	403	0.0174	-87	c.44- others(102): Show c.44-2052_44-1966delAAAGAGAAAGAAAGAAAGGAAGGAAAGAAA GAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA		TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12						chr11	TogoVar
TPO_chr2_1408463_1548673	1511227	AAAGCCCT others(80): Show AAAGCCCTGCAGACTGGGGGTGCCACAGCGCAGCCCTGCAGACTGGGGGT GCCACAGCGCAGCCCTGCAGACTGGGGGTGCCACAGCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02080.hp2 HG02451.hp1 others(13): Show HG00423.hp1 HG02080.hp2 HG02451.hp1 HG02523.hp2 HG03654.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp2 NA19058.hp2 NA19088.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0003 a0006 a0008 a0003 a0006 a0008	a0003c0003 a0003c0006 a0006c0027 others(2): Show a0003c0003 a0003c0006 a0006c0027 a0008c0011 a0008c0028	a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 others(5): Show a0003c0003t0001 a0003c0003t0004 a0003c0003t0005 a0003c0006t0004 a0003c0006t0011 a0006c0027t0002 a0008c0011t0015 a0008c0028t0003	a0003c0003t0001g0010 a0003c0003t0001g0045 a0003c0003t0004g0012 others(12): Show a0003c0003t0001g0010 a0003c0003t0001g0045 a0003c0003t0004g0012 a0003c0003t0004g0034 a0003c0003t0004g0050 a0003c0003t0005g0001 a0003c0003t0005g0042 a0003c0006t0004g0097 a0003c0006t0004g0100 a0003c0006t0004g0101 a0003c0006t0004g0103 a0003c0006t0011g0090 a0006c0027t0002g0111 a0008c0011t0015g0122 a0008c0028t0003g0003	16	86	0.1860	-87	c.251 others(106): Show c.2519-5655_2519-5569delAAGCCCTGCAGACTGGGGGTGCCACA GCGCAGCCCTGCAGACTGGGGGTGCCACAGCGCAGCCCTGCAGACTGGGG GTGCCACAGCG		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	14/16						chr2	TogoVar
TPO_chr2_1408463_1548673	1530284	CCCCGCCA others(80): Show CCCCGCCAGTGTGAGCAACCTCCTAAAATCCCCACACTGTGAGAAACCTC CTCAAATCCCCCCAAGTGTGTGCAACGTCCCCAAATAT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18962.hp1 HG02040.hp1 NA18962.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0013 a0002c0002 a0007c0013	a0002c0002t0009 a0007c0013t0012 a0002c0002t0009 a0007c0013t0012	a0002c0002t0009g0062 a0007c0013t0012g0066 a0002c0002t0009g0062 a0007c0013t0012g0066	2	125	0.0160	-87	c.261 others(108): Show c.2619-10306_2619-10220delGCCAGTGTGAGCAACCTCCTAAAA TCCCCACACTGTGAGAAACCTCCTCAAATCCCCCCAAGTGTGTGCAACGT CCCCAAATATCCC		TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16					INFO_REALIGN_3_PRIME	chr2	TogoVar

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