Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMAD4_chr18_51025213_51090042	51062851	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG06807.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0012 a0001c0001t0014	a0001c0001t0012g0141 a0001c0001t0014g0036 a0001c0001t0012g0141 a0001c0001t0014g0036	2	125	0.0160	17	c.956 others(34): Show c.956-2564_956-2548dupTTTTTTTTTTTTTTTTT	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG02809.hp1 NA19030.hp2 HG01258.hp2 HG02809.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0008 a0001c0001t0004g0044 a0001c0001t0025g0008 a0001c0001t0004g0008 a0001c0001t0004g0044 a0001c0001t0025g0008	3	115	0.0261	17	c.60 others(28): Show c.6016_*6017insAAAAAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding		764		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66718130	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	334	0.0030	17	c.952 others(34): Show c.952+1633_952+1649dupTGTGTGTGTGTGTGTGT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMARCA2_chr9_2010347_2198620	2155720	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0050 a0002c0004t0001g0050	1	37	0.0270	17	c.398 others(36): Show c.3982-5944_3982-5928dupTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0011 a0001c0010t0001g0011	1	177	0.0056	17	c.28 others(28): Show c.2853_*2854insTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar
SMARCC1_chr3_47580269_47786893	47671197	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAACAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	211	0.0047	17	c.184 others(34): Show c.1840-481_1840-480insGTGTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47726061	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02647.hp2 HG01978.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0011g0182 a0001c0002t0002g0166 a0001c0001t0011g0182 a0001c0002t0002g0166	2	110	0.0182	17	c.646 others(34): Show c.646+2947_646+2963dupTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	6/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	10	0.1000	17	c.242 others(34): Show c.2420+681_2420+697dupTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1B_chr22_45339063_45418599	45353893	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp2 HG01358.hp1 others(1): Show HG01109.hp1 HG01175.hp2 HG01358.hp1 HG02257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0077 a0002c0001t0002g0286 a0002c0001t0002g0328 others(1): Show a0002c0001t0002g0077 a0002c0001t0002g0286 a0002c0001t0002g0328 a0002c0001t0002g0329	4	72	0.0556	17	c.327 others(32): Show c.3273+68_3273+84dupTTTTTTTTTTTTTTTTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24			chr22	TogoVar
SMC2_chr9_104089309_104146419	104127633	T T	TCAACAAT others(10): Show TCAACAATGCTAATTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0056 a0001c0003t0027g0056	1	276	0.0036	17	c.279 others(34): Show c.2790+154_2790+170dupCAACAATGCTAATTTTC	SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70317952	A A	ACTCTTCT others(10): Show ACTCTTCTCTCCTGGTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG00741.hp1 others(54): Show HG00140.hp2 HG00673.hp2 HG00741.hp1 HG01099.hp1 HG01106.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02615.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG04115.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp2 NA18955.hp2 NA18960.hp2 NA18967.hp2 NA18999.hp2 NA19009.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19066.hp2 NA19078.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2	a0002 a0004 a0012 a0002 a0004 a0012	a0002c0002 a0002c0009 a0002c0013 others(3): Show a0002c0002 a0002c0009 a0002c0013 a0004c0004 a0004c0006 a0012c0020	a0002c0002t0001 a0002c0002t0004 a0002c0002t0013 others(8): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0013 a0002c0002t0022 a0002c0009t0006 a0002c0009t0014 a0002c0013t0006 a0004c0004t0001 a0004c0004t0018 a0004c0006t0001 a0012c0020t0006	a0002c0002t0001g0007 a0002c0002t0001g0073 a0002c0002t0001g0074 others(52): Show a0002c0002t0001g0007 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0004g0008 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0089 a0002c0002t0004g0096 a0002c0002t0013g0312 a0002c0002t0022g0076 a0002c0009t0006g0009 a0002c0009t0006g0097 a0002c0009t0014g0099 a0002c0013t0006g0009 a0004c0004t0001g0313 a0004c0004t0001g0314 a0004c0004t0001g0315 a0004c0004t0001g0316 a0004c0004t0001g0317 a0004c0004t0001g0318 a0004c0004t0001g0319 a0004c0004t0001g0320 a0004c0004t0001g0321 a0004c0004t0001g0327 a0004c0004t0001g0328 a0004c0004t0001g0330 a0004c0004t0001g0331 a0004c0004t0001g0332 a0004c0004t0001g0334 a0004c0004t0001g0336 a0004c0004t0018g0338 a0004c0006t0001g0324 a0004c0006t0001g0325 a0004c0006t0001g0326 a0004c0006t0001g0329 a0004c0006t0001g0333 a0004c0006t0001g0335 a0012c0020t0006g0098	57	364	0.1566	17	c.180 others(34): Show c.1807-549_1807-548insGTATCTCTTCTCTCCTG	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02293.hp2 NA18979.hp2 others(3): Show HG02040.hp2 HG02293.hp2 NA18979.hp2 NA18983.hp1 NA19001.hp2 NA19063.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0006 a0003c0003 a0001c0004 a0002c0006 a0003c0003	a0001c0004t0001 a0002c0006t0001 a0003c0003t0003 a0001c0004t0001 a0002c0006t0001 a0003c0003t0003	a0001c0004t0001g0046 a0001c0004t0001g0080 a0001c0004t0001g0138 others(3): Show a0001c0004t0001g0046 a0001c0004t0001g0080 a0001c0004t0001g0138 a0002c0006t0001g0062 a0002c0006t0001g0124 a0003c0003t0003g0128	6	23	0.2609	17	c.638 others(34): Show c.638+5338_638+5354dupAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(10): Show TATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02451.hp2 others(4): Show HG01106.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0004 a0001c0007t0009 a0001c0005t0004 a0001c0007t0009	a0001c0005t0004g0025 a0001c0005t0004g0026 a0001c0005t0004g0029 others(4): Show a0001c0005t0004g0025 a0001c0005t0004g0026 a0001c0005t0004g0029 a0001c0007t0009g0235 a0001c0007t0009g0236 a0001c0007t0009g0237 a0001c0007t0009g0238	7	72	0.0972	17	c.226 others(34): Show c.2260+988_2260+989insTATATATATATATAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0277 a0002c0001t0002g0277	1	66	0.0152	17	c.226 others(34): Show c.2260+988_2260+989insTATATATATATATATAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708908	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG00642.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0192 a0001c0002t0001g0193	2	291	0.0069	17	c.226 others(34): Show c.2260+988_2260+989insTATATATATATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47			chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02015.hp1 HG02040.hp2 others(8): Show HG00558.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02273.hp2 HG02698.hp1 HG03654.hp2 NA18612.hp2 NA18972.hp1 NA18973.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0002c0006 a0001c0004 a0002c0001 a0002c0006	a0001c0004t0001 a0002c0001t0001 a0002c0006t0015 a0001c0004t0001 a0002c0001t0001 a0002c0006t0015	a0001c0004t0001g0056 a0001c0004t0001g0059 a0001c0004t0001g0080 others(8): Show a0001c0004t0001g0056 a0001c0004t0001g0059 a0001c0004t0001g0080 a0001c0004t0001g0085 a0001c0004t0001g0097 a0001c0004t0001g0136 a0001c0004t0001g0139 a0001c0004t0001g0155 a0001c0004t0001g0339 a0002c0001t0001g0325 a0002c0006t0015g0146	11	223	0.0493	17	c.572 others(36): Show c.5720-2278_5720-2277insAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG1_chr16_18799860_18931408	18849069	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0240 a0001c0002t0005g0240	1	65	0.0154	17	c.562 others(34): Show c.5623+131_5623+147dupTTTTTTTTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18887516	C C	CTTTGTTT others(10): Show CTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01175.hp1 HG01192.hp2 others(8): Show HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01361.hp1 HG01496.hp1 HG02602.hp1 HG03490.hp2 HG03492.hp1 HG04184.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0005 a0001c0007 a0002c0005	a0001c0007t0003 a0001c0007t0023 a0002c0005t0003 a0001c0007t0003 a0001c0007t0023 a0002c0005t0003	a0001c0007t0003g0187 a0001c0007t0003g0206 a0001c0007t0003g0209 others(8): Show a0001c0007t0003g0187 a0001c0007t0003g0206 a0001c0007t0003g0209 a0001c0007t0003g0210 a0001c0007t0023g0027 a0002c0005t0003g0184 a0002c0005t0003g0185 a0002c0005t0003g0186 a0002c0005t0003g0194 a0002c0005t0003g0195 a0002c0005t0003g0211	11	158	0.0696	17	c.823 others(34): Show c.823-1851_823-1850insAAAAAAAAAAAAACAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2114954	A A	AATAAAAT others(10): Show AATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02145.hp1 HG02698.hp1 others(8): Show HG01358.hp1 HG02145.hp1 HG02698.hp1 HG02735.hp2 HG02886.hp1 HG03041.hp1 HG03579.hp1 NA18951.hp1 NA19043.hp1 NA19066.hp2 NA19070.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0003c0003 a0004c0004 others(1): Show a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(5): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0023 a0003c0003t0001 a0004c0004t0004 a0005c0006t0004	a0002c0002t0001g0030 a0002c0002t0001g0043 a0002c0002t0001g0068 others(8): Show a0002c0002t0001g0030 a0002c0002t0001g0043 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0002g0073 a0002c0002t0005g0107 a0002c0002t0006g0005 a0002c0002t0023g0063 a0003c0003t0001g0182 a0004c0004t0004g0091 a0005c0006t0004g0022	11	104	0.1058	17	c.335 others(38): Show c.3358-29054_3358-29053insATTTTATTTTATTTTAT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19063.hp1 HG03225.hp1 NA19063.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0067 a0003c0003t0001g0160 a0002c0002t0002g0067 a0003c0003t0001g0160	2	88	0.0227	17	c.335 others(38): Show c.3357+42375_3357+42391dupTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130273	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	276	0.0036	17	c.335 others(38): Show c.3357+42384_3357+42385insGTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230186	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0054 a0004c0004t0001g0054	1	226	0.0044	17	c.286 others(36): Show c.2869+6289_2869+6305dupTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG8_chr17_59205035_59220230	59215369	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	5	0.2000	17	c.36 others(26): Show c.367_*368insTTTTTTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		140		chr17	TogoVar
SMG9_chr19_43722983_43759962	43757219	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03471.hp2 HG03579.hp1 HG01243.hp1 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0025 a0001c0001t0023 a0001c0001t0025	a0001c0001t0023g0025 a0001c0001t0025g0113 a0001c0001t0025g0114 a0001c0001t0023g0025 a0001c0001t0025g0113 a0001c0001t0025g0114	3	313	0.0096	17	c.-25 others(28): Show c.-2573_-2572insGTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		2258		chr19	TogoVar
SMIM11_chr21_34370507_34394151	34374050	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	70	0.0143	17	c.-15 others(28): Show c.-1595_-1594insAAAAAAAAAAAAAAAAA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		1456		chr21	TogoVar
SMIM13_chr6_11088834_11143733	11117165	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03710.hp1 HG02723.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0027 a0001c0001t0030 a0001c0002t0027	a0001c0001t0030g0285 a0001c0002t0027g0249 a0001c0001t0030g0285 a0001c0002t0027g0249	2	337	0.0059	17	c.77- others(34): Show c.77-17222_77-17221insTTTTTTTTTTTTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM14_chr4_39541336_39643865	39576685	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03942.hp1 NA18963.hp2 HG02970.hp2 HG03942.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0041 a0001c0001t0049 a0001c0001t0039 a0001c0001t0041 a0001c0001t0049	a0001c0001t0039g0023 a0001c0001t0041g0021 a0001c0001t0049g0088 a0001c0001t0039g0023 a0001c0001t0041g0021 a0001c0001t0049g0088	3	276	0.0109	17	c.76- others(32): Show c.76-4223_76-4222insTATATATATATATATAT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG01081.hp2 others(32): Show HG00099.hp1 HG00639.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp2 HG01257.hp2 HG01433.hp2 HG01928.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02148.hp1 HG02293.hp1 HG02523.hp1 HG02698.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA19011.hp1 NA19074.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0034 a0001c0001t0046 a0001c0001t0048	a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0109 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0194 a0001c0001t0001g0233 a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0004g0144 a0001c0001t0005g0002 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0188 a0001c0001t0005g0190 a0001c0001t0005g0193 a0001c0001t0005g0210 a0001c0001t0005g0219 a0001c0001t0005g0222 a0001c0001t0005g0320 a0001c0001t0010g0108 a0001c0001t0010g0110 a0001c0001t0010g0119 a0001c0001t0010g0137 a0001c0001t0011g0242 a0001c0001t0017g0232 a0001c0001t0018g0145 a0001c0001t0034g0217 a0001c0001t0046g0187 a0001c0001t0048g0112	35	70	0.5000	17	c.76- others(34): Show c.76-12035_76-12019dupTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619751	T T	TATATATA others(10): Show TATATATATCAATAAATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG00741.hp2 others(12): Show HG00408.hp1 HG00733.hp1 HG00741.hp2 HG01256.hp1 HG01978.hp2 HG02886.hp2 NA18953.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp2 NA18991.hp1 NA18992.hp1 NA19004.hp1 NA19078.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010	a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 others(12): Show a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0182 a0001c0001t0003g0204 a0001c0001t0004g0144 a0001c0001t0005g0150 a0001c0001t0005g0158 a0001c0001t0005g0172 a0001c0001t0010g0094	15	314	0.0478	17	c.-35 others(36): Show c.-35-14572_-35-14571insTATTTATTGATATATAT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01175.hp2 others(7): Show HG00099.hp2 HG01070.hp1 HG01175.hp2 HG01433.hp2 HG02738.hp2 HG02895.hp2 HG03017.hp1 HG04228.hp2 NA18953.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0115 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0115 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0033g0049	10	282	0.0355	17	c.34 others(28): Show c.3480_*3481insAAAAAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM28_chr6_138372905_138388486	138380787	T T	TAAATAAA others(10): Show TAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02451.hp1 others(22): Show HG01109.hp1 HG01891.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp2 NA18944.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0006 a0003c0009 others(1): Show a0002c0002 a0002c0006 a0003c0009 a0004c0007	a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0006t0003 a0003c0009t0003 a0004c0007t0002	a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0003g0004 others(8): Show a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0003g0004 a0002c0002t0003g0013 a0002c0002t0003g0017 a0002c0002t0003g0019 a0002c0002t0003g0041 a0002c0002t0009g0004 a0002c0006t0003g0059 a0003c0009t0003g0004 a0004c0007t0002g0015	25	318	0.0786	17	c.112 others(34): Show c.112-1709_112-1708insAAATAAATAAATAAAAT	SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM31_chr4_164749131_164808795	164783585	T T	TCTAAACG others(10): Show TCTAAACGTCTGCCAATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01071.hp1 others(74): Show HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01361.hp1 HG01517.hp1 HG01891.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp2 NA18953.hp1 NA18969.hp2 NA18983.hp1 NA18998.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19078.hp2 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0032 a0001c0001t0036 a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0016 a0001c0002t0034	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0035 others(73): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0002g0012 a0001c0001t0002g0042 a0001c0001t0002g0227 a0001c0001t0002g0307 a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0005g0001 a0001c0001t0005g0086 a0001c0001t0005g0093 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0001t0005g0206 a0001c0001t0005g0219 a0001c0001t0005g0223 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0257 a0001c0001t0005g0261 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0280 a0001c0001t0005g0306 a0001c0001t0005g0333 a0001c0001t0005g0345 a0001c0001t0005g0346 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0207 a0001c0001t0007g0232 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0007g0258 a0001c0001t0007g0259 a0001c0001t0007g0260 a0001c0001t0008g0091 a0001c0001t0008g0235 a0001c0001t0008g0244 a0001c0001t0008g0267 a0001c0001t0008g0278 a0001c0001t0010g0102 a0001c0001t0011g0006 a0001c0001t0011g0156 a0001c0001t0011g0208 a0001c0001t0012g0104 a0001c0001t0012g0157 a0001c0001t0012g0243 a0001c0001t0013g0101 a0001c0001t0013g0209 a0001c0001t0014g0176 a0001c0001t0014g0184 a0001c0001t0014g0195 a0001c0001t0021g0163 a0001c0001t0022g0162 a0001c0001t0023g0100 a0001c0001t0032g0110 a0001c0001t0036g0236 a0001c0002t0007g0115 a0001c0002t0008g0146 a0001c0002t0008g0148 a0001c0002t0008g0153 a0001c0002t0008g0154 a0001c0002t0008g0164 a0001c0002t0011g0149 a0001c0002t0016g0203 a0001c0002t0034g0183	77	354	0.2175	17	c.112 others(36): Show c.112+13031_112+13032insTAAACGTCTGCCAATAC	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164783585	T T	TCTAAATG others(10): Show TCTAAATGTCTGCCAATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02647.hp2 others(5): Show HG02055.hp2 HG02258.hp2 HG02647.hp2 HG02895.hp2 HG02965.hp2 HG03098.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0001t0028	a0001c0001t0001g0029 a0001c0001t0001g0271 a0001c0001t0001g0279 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0002g0005 a0001c0001t0003g0143 a0001c0001t0003g0152 a0001c0001t0020g0161 a0001c0001t0028g0158	8	285	0.0281	17	c.112 others(36): Show c.112+13031_112+13032insTAAATGTCTGCCAATAC	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118021046	G G	GGTTTTTT others(10): Show GGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01952.hp2 NA19012.hp2 HG00438.hp2 HG01952.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0263 a0002c0002t0002g0316 a0002c0002t0002g0009 a0002c0002t0002g0263 a0002c0002t0002g0316	3	346	0.0087	17	c.8-5 others(30): Show c.8-5238_8-5237insAAAAAAAAAAAAAAAAC	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118021047	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTGT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0320 a0002c0002t0005g0320	1	336	0.0030	17	c.8-5 others(30): Show c.8-5239_8-5238insACAAAAAAAAAAAAAAA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118021047	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0021	a0003c0003t0021g0056 a0003c0003t0021g0056	1	336	0.0030	17	c.8-5 others(30): Show c.8-5239_8-5238insAAAAAAAAAAAAAAAAA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118048946	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01175.hp1 HG02109.hp1 others(10): Show HG00621.hp2 HG01175.hp1 HG02109.hp1 HG02257.hp1 HG02630.hp2 HG02723.hp2 HG03492.hp2 NA18522.hp1 NA18985.hp2 NA19082.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0210 others(10): Show a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0003g0174 a0001c0001t0003g0211 a0001c0001t0003g0302 a0001c0001t0003g0306 a0001c0001t0006g0303 a0001c0001t0009g0358 a0001c0001t0009g0397 a0001c0001t0015g0219 a0001c0001t0016g0152	13	175	0.0743	17	c.8-3 others(32): Show c.8-33154_8-33138dupTTTTTTTTTTTTTTTTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118051268	C C	CACTCAGG others(10): Show CACTCAGGCACACAGCTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	406	0.0025	17	c.7+3 others(32): Show c.7+35466_8-35460dupAAGCTGTGTGCCTGAGT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM39_chr2_131030092_131040262	131032822	C C	CTTTCTTT others(10): Show CTTTCTTTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG01109.hp2 others(19): Show HG00735.hp2 HG00741.hp2 HG01109.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01891.hp1 HG01891.hp2 HG02165.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02818.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	22	339	0.0649	17	c.-22 others(28): Show c.-2270_-2269insTTTCTTTTTTCTTTTCT	SMIM39	ENSG00000284479.3	transcript	ENST00000711663.1	protein_coding		2269		chr2	TogoVar
SMIM46_chr19_14107324_14117476	14109937	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	307	0.0033	17	c.23 others(28): Show c.2370_*2386dupTTTTTTTTTTTTTTTTT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2386		chr19	TogoVar
SMKR1_chr7_129497531_129517918	129499488	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	35	0.0286	17	c.-33 others(28): Show c.-3337_-3336insTTTTTTTTTTTTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		3042		chr7	TogoVar
SMN1_chr5_70920087_70958015	70936151	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG03139.hp2 HG02258.hp1 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026	3	7	0.4286	17	c.82- others(32): Show c.82-2672_82-2671insTTTTTTTTTTTTTTTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMN2_chr5_70044669_70082595	70059811	A A	ACTGCAAT others(10): Show ACTGCAATCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	108	0.0093	17	c.82- others(32): Show c.82-3600_82-3584dupCAATCTCCTCTTCCCTG	SMN2	ENSG00000205571.15	transcript	ENST00000380743.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC2_chr6_168436184_168672992	168523079	A A	ATTCTTTT others(10): Show ATTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	29	0.0345	17	c.257 others(34): Show c.257-3265_257-3264insCTTTTTTTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMO_chr7_129183633_129218545	129193781	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01346.hp1 HG01952.hp2 HG00558.hp1 HG01346.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0006 a0001c0001t0001g0013	3	370	0.0081	17	c.331 others(34): Show c.331+4299_331+4300insTATATATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193783	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18960.hp1 NA19012.hp1 HG02300.hp2 NA18960.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0183 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0183	3	353	0.0085	17	c.331 others(34): Show c.331+4301_331+4302insTATATATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0021 a0002c0006t0010g0021	1	228	0.0044	17	c.331 others(34): Show c.331+4304_331+4305insAAATATATATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	228	0.0044	17	c.331 others(34): Show c.331+4303_331+4304insTATATATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMPD1_chr11_6385474_6399996	6391041	T T	TCACTGAG others(10): Show TCACTGAGTTTGCTCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03516.hp2 HG02886.hp2 HG03516.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0022 a0003c0003t0001g0021 a0001c0001t0001g0022 a0003c0003t0001g0021	2	386	0.0052	17	c.318 others(32): Show c.318+126_318+142dupCACTGAGTTTGCTCCCC	SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
SMPD4_chr2_130146408_130186602	130170458	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG02273.hp1 others(8): Show HG00408.hp2 HG00741.hp1 HG02273.hp1 NA18944.hp1 NA18947.hp1 NA18963.hp1 NA18992.hp1 NA18998.hp2 NA19003.hp2 NA19085.hp1 NA20300.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0012 a0001c0002 a0009c0012	a0001c0002t0002 a0001c0002t0008 a0009c0012t0002 a0001c0002t0002 a0001c0002t0008 a0009c0012t0002	a0001c0002t0002g0140 a0001c0002t0002g0144 a0001c0002t0002g0164 others(8): Show a0001c0002t0002g0140 a0001c0002t0002g0144 a0001c0002t0002g0164 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0244 a0001c0002t0008g0141 a0009c0012t0002g0196	11	152	0.0724	17	c.659 others(34): Show c.659+1890_659+1891insTTTTTTTTTTTTTTTTT	SMPD4	ENSG00000136699.20	transcript	ENST00000680298.1	protein_coding	8/19			chr2	TogoVar

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