Joint Open Genome and Omics Platform (JoGo)

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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
SMCHD1_chr18_2650726_2810017	2678830	TTTTTTTT others(6): Show TTTTTTTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0160 a0001c0005t0035g0160	1	338	0.0030	-13	c.638 others(30): Show c.638+4689_638+4701delTTTTTGTTTGTTT		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2775068	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0029 a0011c0024t0029	a0011c0024t0029g0232 a0011c0024t0029g0232	1	30	0.0333	-13	c.517 others(30): Show c.5176-647_5176-635delTTTTTTTTTTTTT		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	41/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196515983	GATAGGAT others(6): Show GATAGGATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01515.hp1 HG01517.hp2 others(6): Show HG01070.hp2 HG01515.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp1 HG02572.hp2 HG03688.hp2 NA18991.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0023 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0023 a0001c0001t0002g0042 a0001c0001t0002g0121 a0001c0001t0002g0160	9	285	0.0316	-13	c.-78 others(22): Show c.-787_-775delATATATATCCTAT		SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding					638		chr3	TogoVar
SMCO1_chr3_196501879_196520346	196517104	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp2 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0088 a0001c0001t0001g0001 a0001c0001t0001g0088	2	117	0.0171	-13	c.-19 others(24): Show c.-1908_-1896delTTTTTTTTTTTTT		SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding					1759		chr3	TogoVar
SMCO2_chr12_27441736_27507185	27477209	GGTTTTTT others(6): Show GGTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01891.hp1 others(13): Show HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp2 HG02572.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004	a0002c0002t0001g0038 a0002c0002t0003g0287 a0002c0002t0004g0034 others(12): Show a0002c0002t0001g0038 a0002c0002t0003g0287 a0002c0002t0004g0034 a0002c0002t0004g0245 a0002c0002t0004g0263 a0002c0002t0004g0264 a0002c0002t0004g0265 a0002c0002t0004g0266 a0002c0002t0004g0267 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0271 a0002c0002t0004g0272 a0002c0002t0004g0273	16	205	0.0780	-13	c.512 others(30): Show c.512+1479_512+1491delGTTTTTTTTTTTT		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8						chr12	TogoVar
SMCO2_chr12_27441736_27507185	27477210	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp2 HG00099.hp2 HG01069.hp2 HG01071.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0015 a0003c0004t0006g0053 a0003c0004t0006g0015 a0003c0004t0006g0053	3	282	0.0106	-13	c.512 others(30): Show c.512+1492_512+1504delTTTTTTTTTTTTT		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
SMG1_chr16_18799860_18931408	18849069	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp2 NA20300.hp1 HG02615.hp1 HG02723.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0032 a0001c0002t0005 a0001c0002t0032	a0001c0002t0005g0270 a0001c0002t0005g0271 a0001c0002t0032g0239 a0001c0002t0005g0270 a0001c0002t0005g0271 a0001c0002t0032g0239	3	67	0.0448	-13	c.562 others(30): Show c.5623+135_5623+147delTTTTTTTTTTTTT		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62						chr16	TogoVar
SMG1_chr16_18799860_18931408	18881132	ATTAAATT others(6): Show ATTAAATTAAATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0028 a0001c0007t0028	a0001c0007t0028g0218 a0001c0007t0028g0218	1	298	0.0034	-13	c.129 others(32): Show c.1293+1020_1293+1032delAAATTTAATTTAA		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	10/62						chr16	TogoVar
SMG1_chr16_18799860_18931408	18887762	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02647.hp1 HG02886.hp1 others(3): Show HG02280.hp1 HG02647.hp1 HG02886.hp1 HG03195.hp1 HG03540.hp1 HG03688.hp1	a0001 a0012 a0001 a0012	a0001c0004 a0012c0021 a0001c0004 a0012c0021	a0001c0004t0004 a0001c0004t0007 a0001c0004t0016 others(1): Show a0001c0004t0004 a0001c0004t0007 a0001c0004t0016 a0012c0021t0007	a0001c0004t0004g0014 a0001c0004t0007g0008 a0001c0004t0007g0010 others(3): Show a0001c0004t0004g0014 a0001c0004t0007g0008 a0001c0004t0007g0010 a0001c0004t0007g0011 a0001c0004t0016g0006 a0012c0021t0007g0009	6	23	0.2609	-13	c.822 others(30): Show c.822+1597_822+1609delTTTTTTTTTTTTT		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62						chr16	TogoVar
SMG5_chr1_156244224_156287825	156261890	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0007 a0005c0015t0007	a0005c0015t0007g0037 a0005c0015t0007g0037	1	61	0.0164	-13	c.203 others(30): Show c.2032-495_2032-483delTTTTTTTTTTTTT		SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	13/21						chr1	TogoVar
SMG5_chr1_156244224_156287825	156271566	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	122	0.0082	-13	c.713 others(28): Show c.713+741_713+753delAAAAAAAAAAAAA		SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	7/21						chr1	TogoVar
SMG6_chr17_2054843_2308785	2156393	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA20805.hp2 HG00642.hp2 NA20805.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0033 a0002c0002 a0013c0033	a0002c0002t0001 a0013c0033t0002 a0002c0002t0001 a0013c0033t0002	a0002c0002t0001g0031 a0013c0033t0002g0098 a0002c0002t0001g0031 a0013c0033t0002g0098	2	28	0.0714	-13	c.335 others(34): Show c.3357+16252_3357+16264delTTTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2230209	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01243.hp2 HG01257.hp1 others(2): Show HG00597.hp2 HG01243.hp2 HG01257.hp1 HG02132.hp1 NA18960.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0014c0030 a0002c0002 a0014c0030	a0002c0002t0001 a0002c0002t0002 a0014c0030t0001 a0002c0002t0001 a0002c0002t0002 a0014c0030t0001	a0002c0002t0001g0014 a0002c0002t0001g0044 a0002c0002t0001g0095 others(2): Show a0002c0002t0001g0014 a0002c0002t0001g0044 a0002c0002t0001g0095 a0002c0002t0002g0045 a0014c0030t0001g0066	5	276	0.0181	-13	c.286 others(32): Show c.2869+6270_2869+6282delCTTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2230324	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03704.hp2 NA20752.hp1 HG03579.hp1 HG03704.hp2 NA20752.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0002c0002 a0006c0005	a0002c0002t0001 a0002c0002t0005 a0006c0005t0001 a0002c0002t0001 a0002c0002t0005 a0006c0005t0001	a0002c0002t0001g0094 a0002c0002t0005g0107 a0006c0005t0001g0111 a0002c0002t0001g0094 a0002c0002t0005g0107 a0006c0005t0001g0111	3	276	0.0109	-13	c.286 others(32): Show c.2869+6155_2869+6167delCTTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2255417	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02015.hp2 HG02040.hp2 others(4): Show HG00621.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 NA18975.hp1 NA19011.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0006 a0006c0005t0011 others(1): Show a0006c0005t0004 a0006c0005t0006 a0006c0005t0011 a0006c0005t0013	a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 others(4): Show a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0005t0013g0120	7	276	0.0254	-13	c.266 others(34): Show c.2662-10711_2662-10699delCTTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18						chr17	TogoVar
SMG8_chr17_59205035_59220230	59215369	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 NA18977.hp2 HG00099.hp1 HG00280.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	7	0.4286	-13	c.36 others(22): Show c.368_*380delTTTTTTTTTTTTT		SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding					140		chr17	TogoVar
SMG8_chr17_59205035_59220230	59216858	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	185	0.0054	-13	c.18 others(24): Show c.1857_*1869delAAAAAAAAAAAAA		SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding					1629		chr17	TogoVar
SMIM10_chrX_134985991_134997473	134986626	ATTTATTT others(6): Show ATTTATTTATTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp1 others(58): Show HG00423.hp2 HG00544.hp1 HG00621.hp1 HG01099.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02976.hp1 HG03041.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp2 HG03927.hp1 HG06807.hp2 NA18948.hp1 NA18949.hp2 NA18953.hp1 NA18954.hp2 NA18967.hp1 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19064.hp1 NA19072.hp1 NA19074.hp1 NA19081.hp1 NA19088.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(6): Show a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0011g0000	61	315	0.1937	-13	c.-44 others(24): Show c.-4469_-4457delTTTATTTATTTAT		SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding					4364		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986708	TTCTTCCT others(6): Show TTCTTCCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0000 a0001c0001t0006g0000	1	318	0.0031	-13	c.-43 others(24): Show c.-4387_-4375delTCTTCCTTCCTTC		SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding					4282		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134997357	ATATTATG others(6): Show ATATTATGTCATGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(42): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03516.hp1 HG03516.hp2 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18966.hp1 NA18972.hp2 NA19043.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0004	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 others(1): Show a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0008g0000 a0001c0002t0004g0000	45	320	0.1406	-13	c.60 others(24): Show c.6011_*6023delTATTATGTCATGC		SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding					4885		chrX	TogoVar
SMIM11_chr21_34370507_34394151	34387772	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA19043.hp1 HG01952.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0052 a0001c0001t0002g0053	2	128	0.0156	-13	c.3- others(26): Show c.3-853_*3-841delCTTTCTTTCTTTT		SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr21	TogoVar
SMIM13_chr6_11088834_11143733	11089299	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02109.hp2 HG02258.hp1 others(11): Show HG02027.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02970.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 NA18967.hp1 NA18989.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030	a0001c0001t0001g0055 a0001c0001t0001g0103 a0001c0001t0002g0131 others(11): Show a0001c0001t0001g0055 a0001c0001t0001g0103 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0003g0001 a0001c0001t0003g0159 a0001c0001t0003g0190 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0251 a0001c0001t0004g0011 a0001c0001t0007g0265 a0001c0001t0009g0199 a0001c0001t0030g0285	14	39	0.3590	-13	c.-50 others(24): Show c.-5014_-5002delTTTTTTTTTTTTT		SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding					4534		chr6	TogoVar
SMIM13_chr6_11088834_11143733	11116008	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0056 a0001c0001t0026g0056	1	115	0.0087	-13	c.77- others(30): Show c.77-18378_77-18366delTTTTTTTTTTTTT		SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM13_chr6_11088834_11143733	11121902	CCCTTACA others(6): Show CCCTTACATACATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00642.hp1 others(49): Show HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0022	a0001c0001t0002g0028 a0001c0001t0002g0171 a0001c0001t0002g0172 others(41): Show a0001c0001t0002g0028 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0006g0007 a0001c0001t0006g0036 a0001c0001t0006g0253 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0274 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0254 a0001c0001t0007g0255 a0001c0001t0007g0256 a0001c0001t0007g0257 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0264 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0277 a0001c0001t0007g0278 a0001c0001t0007g0280 a0001c0001t0007g0284 a0001c0001t0010g0281 a0001c0001t0010g0282 a0001c0001t0010g0283 a0001c0001t0017g0034 a0001c0001t0022g0279	52	398	0.1307	-13	c.77- others(30): Show c.77-12497_77-12485delTACATACATACCT		SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM21_chr18_75404476_75432703	75426631	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 NA18949.hp1 others(1): Show HG00438.hp1 HG00438.hp2 NA18949.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0143 a0001c0001t0002g0141 a0001c0001t0002g0142 others(1): Show a0001c0001t0001g0143 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0015g0140	4	21	0.1905	-13	c.129 others(28): Show c.129+791_129+803delTTTTTTTTTTTTT		SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	1/2						chr18	TogoVar
SMIM31_chr4_164749131_164808795	164758801	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02523.hp2 NA19030.hp1 others(3): Show HG01884.hp1 HG02523.hp2 NA19030.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0027	a0001c0001t0001g0054 a0001c0001t0003g0159 a0001c0001t0003g0160 others(3): Show a0001c0001t0001g0054 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0004g0210 a0001c0001t0021g0163 a0001c0001t0027g0053	6	15	0.4000	-13	c.-26 others(30): Show c.-26+4418_-26+4430delTTTTTTTTTTTTT		SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164762677	AAAAAAAG others(6): Show AAAAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19079.hp1 NA18984.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0341 a0001c0001t0002g0359 a0001c0001t0002g0341 a0001c0001t0002g0359	2	360	0.0056	-13	c.-25 others(30): Show c.-25-7736_-25-7724delAGAAAAAGAAAAA		SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164788478	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0238 a0001c0001t0008g0238	1	118	0.0085	-13	c.113 others(32): Show c.113-12597_113-12585delTTTTTTTTTTTTT		SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM36_chr17_55444856_55516452	55456116	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0229	1	157	0.0064	-13	c.53 others(32): Show c.532-5831_*532-5819delTTTTTTTTTTTTT		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	4/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55515084	GTGTTTTT others(6): Show GTGTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01069.hp1 others(51): Show HG00544.hp2 HG00597.hp1 HG01069.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01928.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03654.hp2 HG03942.hp2 HG04199.hp2 HG06807.hp1 NA18747.hp2 NA18948.hp2 NA18968.hp1 NA18977.hp1 NA18988.hp1 NA18989.hp2 NA19030.hp2 NA19058.hp1 NA19067.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0003t0004	a0001c0001t0001g0091 a0001c0001t0002g0023 a0001c0001t0002g0260 others(46): Show a0001c0001t0001g0091 a0001c0001t0002g0023 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0004g0149 a0001c0001t0004g0195 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0006g0001 a0001c0001t0006g0255 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0006g0280 a0001c0001t0006g0288 a0001c0001t0006g0291 a0001c0001t0008g0258 a0001c0001t0008g0283 a0001c0001t0010g0224 a0001c0001t0010g0225 a0001c0001t0010g0228 a0001c0001t0011g0256 a0001c0003t0004g0027	54	280	0.1929	-13	c.-37 others(24): Show c.-3763_-3751delAAAAAAAAAAACA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding					3633		chr17	TogoVar
SMIM36_chr17_55444856_55516452	55515086	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02559.hp2 others(1): Show HG02055.hp2 HG02109.hp2 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 others(1): Show a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0010g0151	4	226	0.0177	-13	c.-37 others(24): Show c.-3765_-3753delAAAAAAAAAAAAA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding					3635		chr17	TogoVar
SMIM40_chr6_33318628_33334279	33328886	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(186): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(69): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0005g0063 a0001c0001t0006g0066 a0001c0003t0001g0124 a0002c0002t0001g0029	189	358	0.5279	-13	c.39 others(27): Show c.39+88_*39+100delTTTTTTTTTTTTT		SMIM40	ENSG00000286920.2	transcript	ENST00000494082.3	protein_coding	1/2						chr6	TogoVar
SMIM45_chr22_41947150_41963939	41953740	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01109.hp1 HG01243.hp1 others(14): Show HG00639.hp2 HG01109.hp1 HG01243.hp1 HG01496.hp1 HG01891.hp1 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024	a0001c0001t0001g0074 a0001c0001t0003g0068 a0001c0001t0009g0010 others(11): Show a0001c0001t0001g0074 a0001c0001t0003g0068 a0001c0001t0009g0010 a0001c0001t0009g0036 a0001c0001t0009g0037 a0001c0001t0009g0071 a0001c0001t0009g0072 a0001c0001t0013g0010 a0001c0001t0014g0010 a0001c0001t0019g0037 a0001c0001t0020g0010 a0001c0001t0021g0073 a0001c0001t0023g0010 a0001c0001t0024g0075	17	140	0.1214	-13	c.-15 others(30): Show c.-15+1335_-15+1347delTTTTTTTTTTTTT		SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM47_chr19_50780728_50791160	50782265	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	240	0.0042	-13	c.35 others(24): Show c.3534_*3546delTTTTTTTTTTTTT		SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding					3462		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784207	GCCTGAGT others(6): Show GCCTGAGTTTAACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	-13	c.15 others(24): Show c.1592_*1604delTGTTAAACTCAGG		SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding					1520		chr19	TogoVar
SMKR1_chr7_129497531_129517918	129500795	AAAGAAAA others(6): Show AAAGAAAAGAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0040 a0005c0006t0001g0040	1	419	0.0024	-13	c.-20 others(24): Show c.-2029_-2017delAAGAAAAGAAAAG		SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding					1735		chr7	TogoVar
SMOC2_chr6_168436184_168672992	168600421	ACAAAAAA others(6): Show ACAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02735.hp2 HG02809.hp1 others(4): Show HG00280.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0003c0009	a0001c0001t0001 a0001c0002t0002 a0001c0004t0005 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0005 a0001c0008t0002 a0003c0009t0003	a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0002t0002g0040 others(4): Show a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0004t0005g0048 a0001c0008t0002g0042 a0003c0009t0003g0086	7	178	0.0393	-13	c.824 others(30): Show c.824+1418_824+1430delCAAAAAAAAAAAC		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12						chr6	TogoVar
SMOC2_chr6_168436184_168672992	168644644	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02976.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037 a0001c0001t0001g0114 a0001c0002t0002g0034 a0001c0002t0002g0037	3	101	0.0297	-13	c.908 others(30): Show c.908-6026_908-6014delTTTTTTTTTTTTT		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPD4_chr2_130146408_130186602	130185566	GTAACAAG others(6): Show GTAACAAGGGTTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(149): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0009 a0010	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0019 a0001c0020 a0002c0003 a0003c0013 a0005c0008 a0009c0012 a0010c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002 a0001c0006t0006 a0001c0019t0015 a0001c0020t0002 a0002c0003t0002 a0003c0013t0002 a0005c0008t0002 a0009c0012t0002 a0010c0014t0002	a0001c0001t0001g0051 a0001c0001t0003g0048 a0001c0001t0003g0058 others(119): Show a0001c0001t0001g0051 a0001c0001t0003g0048 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0015 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0002g0163 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0219 a0001c0002t0002g0233 a0001c0002t0002g0239 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0004g0016 a0001c0002t0004g0040 a0001c0002t0005g0180 a0001c0002t0005g0190 a0001c0002t0005g0202 a0001c0002t0008g0141 a0001c0002t0010g0187 a0001c0004t0002g0014 a0001c0004t0002g0188 a0001c0004t0002g0193 a0001c0005t0002g0039 a0001c0005t0002g0165 a0001c0005t0002g0234 a0001c0006t0002g0221 a0001c0006t0006g0038 a0001c0006t0006g0229 a0001c0019t0015g0230 a0001c0020t0002g0205 a0002c0003t0002g0037 a0002c0003t0002g0220 a0002c0003t0002g0222 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0231 a0003c0013t0002g0142 a0005c0008t0002g0186 a0005c0008t0002g0218 a0009c0012t0002g0196 a0010c0014t0002g0232	152	330	0.4606	-13	c.-40 others(24): Show c.-4095_-4083delGTAACCCTTGTTA		SMPD4	ENSG00000136699.20	transcript	ENST00000680298.1	protein_coding					3965		chr2	TogoVar
SMPDL3A_chr6_122784258_122814720	122808629	TCCTTCCT others(6): Show TCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00597.hp2 others(35): Show HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG02055.hp1 HG02083.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02895.hp2 HG02965.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03834.hp1 HG03942.hp1 NA18612.hp2 NA18906.hp1 NA18959.hp1 NA18961.hp1 NA18965.hp2 NA18991.hp1 NA18998.hp2 NA19009.hp1 NA19056.hp1 NA19082.hp1 NA19087.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(3): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0002c0013 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0006t0002 a0002c0002t0002 a0002c0013t0002 a0002c0020t0002	a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0062 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0002g0011 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0082 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0171 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0003g0248 a0001c0003t0002g0243 a0001c0006t0002g0136 a0002c0002t0002g0018 a0002c0002t0002g0044 a0002c0002t0002g0047 a0002c0002t0002g0130 a0002c0002t0002g0211 a0002c0013t0002g0078 a0002c0020t0002g0174	38	439	0.0866	-13	c.104 others(30): Show c.1045-459_1045-447delTTCCTTCCTTCCC		SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMS_chrX_21935709_21999837	21941884	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00558.hp2 others(20): Show HG00099.hp1 HG00408.hp2 HG00558.hp2 HG00639.hp2 HG01943.hp1 HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02602.hp1 NA18947.hp2 NA18951.hp1 NA18973.hp1 NA18982.hp1 NA18990.hp1 NA18992.hp2 NA19001.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19063.hp1 NA19065.hp2 NA19074.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 others(20): Show a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214	23	69	0.3333	-13	c.49+ others(28): Show c.49+1038_49+1050delAAAAAAAAAAAAA		SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21988662	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18997.hp2 NA18959.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0019 a0001c0001t0001g0040	2	5	0.4000	-13	c.945 others(30): Show c.945+3457_945+3469delAAAAAAAAAAAAA		SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4589938	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02451.hp1 HG02559.hp1 others(10): Show HG02027.hp1 HG02451.hp1 HG02559.hp1 HG02895.hp1 HG03209.hp2 HG03579.hp2 NA18979.hp1 NA18980.hp2 NA18986.hp1 NA18990.hp2 NA19060.hp1 NA19081.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0002c0001t0001	a0001c0002t0001g0089 a0001c0002t0001g0177 a0001c0003t0001g0143 others(8): Show a0001c0002t0001g0089 a0001c0002t0001g0177 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0148 a0001c0003t0001g0176 a0001c0003t0002g0174 a0001c0003t0002g0175 a0001c0003t0002g0178 a0002c0001t0001g0013 a0002c0001t0001g0053	13	164	0.0793	-13	c.400 others(30): Show c.400-2389_400-2377delTTTTTTTTTTTTT		SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
SMU1_chr9_33036765_33081674	33067297	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(42): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG01256.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02145.hp2 HG02148.hp2 HG02273.hp2 HG02698.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp2 NA18945.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18979.hp1 NA18983.hp2 NA18988.hp2 NA18994.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19055.hp1 NA19059.hp1 NA19082.hp2 NA19086.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0028 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057	a0001c0001t0001g0016 a0001c0001t0001g0251 a0001c0001t0004g0001 others(23): Show a0001c0001t0001g0016 a0001c0001t0001g0251 a0001c0001t0004g0001 a0001c0001t0004g0013 a0001c0001t0004g0017 a0001c0001t0004g0147 a0001c0001t0004g0192 a0001c0001t0004g0194 a0001c0001t0004g0197 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0252 a0001c0001t0004g0262 a0001c0001t0004g0267 a0001c0001t0004g0276 a0001c0001t0017g0030 a0001c0001t0017g0188 a0001c0001t0017g0189 a0001c0001t0028g0196 a0001c0001t0028g0246 a0001c0001t0051g0186 a0001c0001t0053g0198 a0001c0001t0054g0187 a0001c0001t0055g0261 a0001c0001t0056g0318 a0001c0001t0057g0195	45	222	0.2027	-13	c.501 others(30): Show c.501+1514_501+1526delTTTTTTTTTTTTT		SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	4/11						chr9	TogoVar
SMUG1_chr12_54175366_54193985	54183680	TCCAGGGT others(6): Show TCCAGGGTTCATGC	T T	frameshift_variant frameshift_variant	HIGH	HG04184.hp2 HG04184.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0005 a0006c0004t0005	a0006c0004t0005g0074 a0006c0004t0005g0074	1	436	0.0023	-13	c.248 others(20): Show c.248_260delGCATGAACCCTGG	p.Gly others(4): Show p.Gly83fs	SMUG1	ENSG00000123415.16	transcript	ENST00000682136.1	protein_coding	3/4	398/2681	248/813	83/270			chr12	TogoVar
SMURF1_chr7_99022440_99149108	99042515	TCCACCCA others(6): Show TCCACCCATCTCGG	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	262	0.0038	-13	c.125 others(30): Show c.1257-296_1257-284delCCGAGATGGGTGG		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	11/17						chr7	TogoVar
SMURF1_chr7_99022440_99149108	99098362	ATGAACAT others(6): Show ATGAACATGTTAAC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp2 others(18): Show HG01081.hp1 HG01167.hp2 HG01169.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 NA19043.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0025 a0001c0001t0027	a0001c0001t0003g0013 a0001c0001t0003g0180 a0001c0001t0005g0008 others(17): Show a0001c0001t0003g0013 a0001c0001t0003g0180 a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0114 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0170 a0001c0001t0010g0002 a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0011g0120 a0001c0001t0011g0168 a0001c0001t0011g0171 a0001c0001t0011g0172 a0001c0001t0020g0256 a0001c0001t0020g0259 a0001c0001t0025g0007 a0001c0001t0027g0186	21	262	0.0802	-13	c.56- others(30): Show c.56-36538_56-36526delGTTAACATGTTCA		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17						chr7	TogoVar
SMURF1_chr7_99022440_99149108	99146711	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp1 others(37): Show HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01496.hp2 HG01516.hp1 HG02015.hp2 HG02071.hp1 HG02132.hp2 HG02559.hp2 HG02698.hp1 HG02886.hp2 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp2 NA18612.hp2 NA18940.hp1 NA18957.hp2 NA18973.hp2 NA19001.hp2 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19080.hp2 NA19082.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0002t0002 a0001c0002t0008 a0002c0008t0002 a0003c0006t0002	a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0002g0203 others(37): Show a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0002g0203 a0001c0001t0002g0215 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0007g0208 a0001c0001t0007g0216 a0001c0001t0007g0231 a0001c0001t0007g0243 a0001c0001t0010g0247 a0001c0001t0015g0209 a0001c0001t0015g0211 a0001c0001t0015g0213 a0001c0001t0034g0194 a0001c0001t0036g0204 a0001c0001t0037g0200 a0001c0001t0038g0238 a0001c0001t0039g0233 a0001c0001t0040g0210 a0001c0002t0002g0214 a0001c0002t0002g0221 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0008g0060 a0002c0008t0002g0205 a0003c0006t0002g0206	40	46	0.8696	-13	c.-29 others(24): Show c.-2944_-2932delTTTTTTTTTTTTT		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding					2604		chr7	TogoVar
SMURF2_chr17_64537282_64667307	64631280	GGGAGAGA others(6): Show GGGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	161	0.0062	-13	c.53- others(30): Show c.53-24653_53-24641delTCTCTCTCTCTCC		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18						chr17	TogoVar
SMURF2_chr17_64537282_64667307	64631282	GAGAGAGA others(6): Show GAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01517.hp2 HG01257.hp2 HG01258.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028	3	146	0.0205	-13	c.53- others(30): Show c.53-24655_53-24643delTCTCTCTCTCTCT		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18						chr17	TogoVar

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