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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEPTIN9_chr17_77314518_77505593	77484646	GGGGTGGT others(26): Show GGGGTGGTGGTGGTGATTGTGATGGTGGTGATGT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03041.hp2 HG03831.hp1 HG02145.hp1 HG03041.hp2 HG03831.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0008 a0002c0002 a0004c0008	a0002c0002t0003 a0002c0002t0012 a0004c0008t0004 a0002c0002t0003 a0002c0002t0012 a0004c0008t0004	a0002c0002t0003g0117 a0002c0002t0012g0103 a0004c0008t0004g0146 a0002c0002t0003g0117 a0002c0002t0012g0103 a0004c0008t0004g0146	3	156	0.0192	-33	c.859 others(50): Show c.859+2374_859+2406delATGTGGGTGGTGGTGGTGATTGTGATGG TGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERHL2_chr22_42548956_42579382	42563154	CTGCACTC others(26): Show CTGCACTCTAGCAAGACCCTGGCTTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	430	0.0023	-33	c.613 others(50): Show c.613+2891_613+2923delGCACTCTAGCAAGACCCTGGCTTTTTCT TTTTT	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINA11_chr14_94437464_94457800	94449390	CTCTTTCT others(26): Show CTCTTTCTTTCTTTCTATTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	377	0.0027	-33	c.-3- others(46): Show c.-3-646_-3-614delAAGAAAGAAAGAAAGAATAGAAAGAAAGAAAG A	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94580006	GCCTGTTT others(26): Show GCCTGTTTCTGGATATCCTACAGTAGCAATCCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02258.hp2 others(7): Show HG01891.hp1 HG02145.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03516.hp1 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0002c0016 a0003c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0017 a0002c0008t0016 a0002c0016t0017 a0003c0010t0001	a0001c0001t0001g0253 a0002c0002t0001g0251 a0002c0002t0004g0209 others(7): Show a0001c0001t0001g0253 a0002c0002t0001g0251 a0002c0002t0004g0209 a0002c0002t0004g0236 a0002c0002t0004g0252 a0002c0002t0017g0205 a0002c0008t0016g0208 a0002c0016t0017g0249 a0003c0010t0001g0232 a0003c0010t0001g0233	10	462	0.0216	-33	c.-15 others(44): Show c.-1597_-1565delCCTGTTTCTGGATATCCTACAGTAGCAATCCCA	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding		1419		chr14	TogoVar
SERPINB9_chr6_2882270_2908309	2907632	CGAGTACG others(26): Show CGAGTACGTGTGTCGAGGTTGTGTGTGTGCGCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0286 a0001c0001t0105g0286	1	460	0.0022	-33	c.-44 others(44): Show c.-4475_-4443delAAGCGCACACACACAACCTCGACACACGTACTC	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding		4324		chr6	TogoVar
SERPINE1_chr7_101122104_101144247	101143678	GGAAGGGA others(26): Show GGAAGGGAAAGAAGAAAGAAGGGAAAGAAAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01346.hp2 HG01255.hp1 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0038 a0001c0001t0016g0148 a0001c0001t0016g0038 a0001c0001t0016g0148	2	433	0.0046	-33	c.62 others(44): Show c.6237_*6269delGAAGGGAAAGAAGAAAGAAGGGAAAGAAAGAAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		4432		chr7	TogoVar
SETD4_chr21_36029541_36065526	36030032	CCATTTGA others(26): Show CCATTTGAGGCGAGGCTGCAGCGAGAGAGACTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0208 a0001c0001t0021g0208	1	396	0.0025	-33	c.59 others(44): Show c.5928_*5960delCCAGTCTCTCTCGCTGCAGCCTCGCCTCAAATG	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding		4508		chr21	TogoVar
SEZ6L_chr22_26164462_26388596	26341615	CCTCCATC others(26): Show CCTCCATCCAGTAGACATCTCAGATTTAACATGG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0184 a0001c0003t0005g0184	1	238	0.0042	-33	c.221 others(51): Show c.2212+985_2212+1017delTCCATCCAGTAGACATCTCAGATTTAA CATGGC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A2_chr19_2231824_2253655	2233329	GCAGGGGG others(26): Show GCAGGGGGGCCATGCCACCAGCCTGGGGGCTCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 NA19240.hp1 HG02970.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	2	418	0.0048	-33	c.-36 others(44): Show c.-3609_-3577delCAGGGGGGCCATGCCACCAGCCTGGGGGCTCAC	SF3A2	ENSG00000104897.10	transcript	ENST00000221494.10	protein_coding		3494		chr19	TogoVar
SFMBT2_chr10_7153624_7416034	7207480	AGGAAGGA others(26): Show AGGAAGGAAGGAAGGAAAGGGAGGAAGGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02886.hp1 HG02976.hp1 others(2): Show HG02300.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0103 a0001c0001t0002g0007 a0001c0001t0004g0024 others(2): Show a0001c0001t0001g0103 a0001c0001t0002g0007 a0001c0001t0004g0024 a0001c0001t0004g0056 a0001c0001t0004g0098	5	142	0.0352	-33	c.133 others(52): Show c.1331-1585_1331-1553delCCCTTTCCTTCCTCCCTTTCCTTCCT TCCTTCC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	11/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7393001	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03098.hp2 HG03471.hp2 others(1): Show HG02055.hp2 HG03098.hp2 HG03471.hp2 NA19043.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0011 a0001c0001 a0001c0002 a0005c0011	a0001c0001t0005 a0001c0001t0022 a0001c0002t0007 others(1): Show a0001c0001t0005 a0001c0001t0022 a0001c0002t0007 a0005c0011t0010	a0001c0001t0005g0064 a0001c0001t0022g0001 a0001c0002t0007g0038 others(1): Show a0001c0001t0005g0064 a0001c0001t0022g0001 a0001c0002t0007g0038 a0005c0011t0010g0049	4	142	0.0282	-33	c.-51 others(52): Show c.-51-11085_-51-11053delATATATATATATATATATATATATAT ATATATA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20			chr10	TogoVar
SFSWAP_chr12_131706090_131804738	131707828	TCACCAGT others(26): Show TCACCAGTCCCAGTATCATATGAATAAATTGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	316	0.0032	-33	c.-34 others(44): Show c.-3401_-3369delCACCAGTCCCAGTATCATATGAATAAATTGGGA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		3261		chr12	TogoVar
SGK1_chr6_134164256_134323112	134206357	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01169.hp2 others(6): Show HG00558.hp2 HG01099.hp1 HG01169.hp2 HG02630.hp1 HG04199.hp1 NA18950.hp2 NA18982.hp2 NA19009.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0133 a0001c0001t0001g0134 others(6): Show a0001c0001t0001g0040 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0158 a0001c0001t0001g0204 a0001c0001t0001g0223	9	238	0.0378	-33	c.361 others(48): Show c.361+966_361+998delAAAAAAATATATATATATATATATATATAT ATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206359	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(55): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01243.hp2 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp2 HG02165.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02735.hp2 HG02922.hp2 HG03017.hp1 HG03239.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 NA18943.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18977.hp2 NA19002.hp2 NA19003.hp2 NA19010.hp2 NA19070.hp2 NA19082.hp1 NA19090.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0003 a0001c0009t0001 a0003c0011t0001	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0028 others(55): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0002g0062 a0001c0001t0003g0012 a0001c0001t0004g0152 a0001c0001t0011g0054 a0001c0001t0012g0081 a0001c0002t0001g0044 a0001c0002t0001g0108 a0001c0002t0001g0155 a0001c0002t0001g0218 a0001c0002t0002g0157 a0001c0002t0010g0181 a0001c0003t0001g0038 a0001c0003t0001g0047 a0001c0003t0001g0127 a0001c0003t0001g0198 a0001c0003t0003g0013 a0001c0009t0001g0088 a0003c0011t0001g0209	58	241	0.2407	-33	c.361 others(48): Show c.361+964_361+996delAAAAAAAAATATATATATATATATATATAT ATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206361	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	240	0.0042	-33	c.361 others(48): Show c.361+962_361+994delAAAAAAAAAAATATATATATATATATATAT ATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134206369	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp1 HG02897.hp2 others(2): Show HG02647.hp1 HG02896.hp1 HG02897.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0229 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235	5	242	0.0207	-33	c.361 others(48): Show c.361+954_361+986delAAAAAAAAAAAAAAAAAAATATATATATAT ATA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	3/13			chr6	TogoVar
SH2B3_chr12_111400923_111456623	111429015	CGAGGAGG others(26): Show CGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAA	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	226	0.0044	-33	c.732 others(52): Show c.732+10161_732+10193delAGGAGGAGGAAGAGGAGGAGGAGGAG GAGGAGG	SH2B3	ENSG00000111252.11	transcript	ENST00000341259.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SH2D3C_chr9_127733317_127783666	127781900	GCAGGCCA others(26): Show GCAGGCCACACCAATCTGGGCCTCAATTTCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	330	0.0030	-33	c.-33 others(44): Show c.-3306_-3274delAGGGGAAATTGAGGCCCAGATTGGTGTGGCCTG	SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding		3235		chr9	TogoVar
SH2D5_chr1_20714731_20737703	20717839	CGGGGGGC others(26): Show CGGGGGGCGGGGACCCCTCGGGGGGCGCCCCGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	408	0.0025	-33	c.39 others(44): Show c.3920_*3952delTCCGGGGCGCCCCCCGAGGGGTCCCCGCCCCCC	SH2D5	ENSG00000189410.12	transcript	ENST00000444387.7	protein_coding		1891		chr1	TogoVar
SH3BP4_chr2_234947017_235060714	235038318	ATTATATA others(26): Show ATTATATATATATTATATATAGTATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0049 a0001c0024t0001g0049	1	346	0.0029	-33	c.119 others(50): Show c.119-2569_119-2537delTTATATATATATTATATATAGTATATAT ATTTT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5			chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15333854	AGGTGCTT others(26): Show AGGTGCTTCAAAGCTCCTTGCTAAAGACATAGTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0359 a0001c0002t0005g0359	1	374	0.0027	-33	c.-14 others(44): Show c.-1479_-1447delAACTATGTCTTTAGCAAGGAGCTTTGAAGCACC	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding		1269		chr3	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348621	TCTATGTA others(26): Show TCTATGTATCTATCTATGTATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	278	0.0036	-33	c.101 others(52): Show c.1013-1322_1013-1290delGATAGATAGATAGATACATAGATAGA TACATAG	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3RF2_chr5_145931578_146068292	146002460	AAAGAAAG others(26): Show AAAGAAAGAAAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	270	0.0037	-33	c.649 others(50): Show c.649-1594_649-1562delAAAGAAAAGGAAGGAAGGAAGGAAGGAA GGAAG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SH3TC1_chr4_8194290_8246103	8211336	CCCTCTCC others(26): Show CCCTCTCCCCCTCCTGGTTTCTCCCCTCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00733.hp1 HG01070.hp1 others(3): Show HG00408.hp1 HG00733.hp1 HG01070.hp1 HG02258.hp2 NA18960.hp2 NA19010.hp1	a0002 a0004 a0016 others(2): Show a0002 a0004 a0016 a0026 a0036	a0002c0003 a0002c0007 a0004c0011 others(3): Show a0002c0003 a0002c0007 a0004c0011 a0016c0080 a0026c0071 a0036c0046	a0002c0003t0002 a0002c0007t0001 a0004c0011t0001 others(3): Show a0002c0003t0002 a0002c0007t0001 a0004c0011t0001 a0016c0080t0002 a0026c0071t0003 a0036c0046t0002	a0002c0003t0002g0283 a0002c0007t0001g0282 a0004c0011t0001g0033 others(3): Show a0002c0003t0002g0283 a0002c0007t0001g0282 a0004c0011t0001g0033 a0016c0080t0002g0193 a0026c0071t0003g0025 a0036c0046t0002g0280	6	365	0.0164	-33	c.248 others(50): Show c.248-1303_248-1271delTCCTTCCTCTCCCCCTCCTGGTTTCTCC CCTCT	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHANK1_chr19_50654255_50724802	50707888	TTTCTTTT others(26): Show TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02735.hp1 HG06807.hp2 HG01981.hp2 HG02735.hp1 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0007 a0002c0001t0002 a0002c0001t0007	a0002c0001t0002g0096 a0002c0001t0002g0213 a0002c0001t0007g0224 a0002c0001t0002g0096 a0002c0001t0002g0213 a0002c0001t0007g0224	3	300	0.0100	-33	c.107 others(52): Show c.1078-3407_1078-3375delGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAA	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	8/23			chr19	TogoVar
SHCBP1L_chr1_182894865_182958166	182924696	GAAAGGAA others(26): Show GAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02895.hp1 HG03041.hp2 HG02602.hp2 HG02895.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0066 a0001c0001t0001g0075 a0002c0002t0001g0040 a0001c0001t0001g0066 a0001c0001t0001g0075 a0002c0002t0001g0040	3	257	0.0117	-33	c.118 others(52): Show c.1182+4918_1182+4950delTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927068	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	300	0.0033	-33	c.118 others(52): Show c.1182+2546_1182+2578delATATATATATATATATATATATATAT ATATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952178	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	292	0.0034	-33	c.405 others(48): Show c.405+518_405+550delATATATATATATATATATATTTTTTTTTTT TTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952182	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	287	0.0035	-33	c.405 others(48): Show c.405+514_405+546delATATATATATATATATATATATATTTTTTT TTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHISA6_chr17_11236213_11569063	11237575	GGAAGAAG others(26): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	25	0.0400	-33	c.-38 others(44): Show c.-3847_-3815delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding		3637		chr17	TogoVar
SIPA1L3_chr19_37902208_38213369	38030603	TTATATAT others(26): Show TTATATATATATATGTGGCAAATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02300.hp2 HG02486.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18962.hp1 NA18979.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19068.hp1 NA19074.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0009 a0012 a0013 a0014 a0016 a0017 a0018 a0023	a0001c0001 a0001c0003 a0001c0026 others(16): Show a0001c0001 a0001c0003 a0001c0026 a0001c0033 a0002c0002 a0004c0011 a0004c0039 a0004c0040 a0005c0017 a0006c0010 a0006c0035 a0009c0018 a0012c0021 a0013c0036 a0014c0031 a0016c0038 a0017c0028 a0018c0024 a0023c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0026t0004 a0001c0033t0005 a0002c0002t0003 a0002c0002t0015 a0004c0011t0004 a0004c0011t0006 a0004c0039t0001 a0004c0040t0004 a0005c0017t0002 a0005c0017t0006 a0006c0010t0004 a0006c0035t0001 a0009c0018t0004 a0012c0021t0003 a0013c0036t0004 a0014c0031t0004 a0016c0038t0005 a0017c0028t0001 a0018c0024t0002 a0023c0019t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0139 a0001c0001t0004g0021 a0001c0001t0004g0036 a0001c0001t0004g0065 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0127 a0001c0001t0005g0003 a0001c0001t0005g0037 a0001c0001t0005g0041 a0001c0001t0005g0046 a0001c0001t0005g0058 a0001c0001t0005g0071 a0001c0001t0005g0096 a0001c0001t0005g0122 a0001c0001t0005g0152 a0001c0001t0006g0007 a0001c0001t0006g0010 a0001c0001t0006g0024 a0001c0001t0006g0052 a0001c0001t0006g0059 a0001c0001t0006g0072 a0001c0001t0012g0103 a0001c0001t0021g0045 a0001c0001t0022g0008 a0001c0001t0024g0077 a0001c0001t0025g0095 a0001c0003t0001g0153 a0001c0003t0004g0049 a0001c0003t0004g0110 a0001c0003t0004g0111 a0001c0003t0004g0124 a0001c0003t0005g0073 a0001c0003t0007g0067 a0001c0026t0004g0157 a0001c0033t0005g0131 a0002c0002t0003g0025 a0002c0002t0015g0117 a0004c0011t0004g0102 a0004c0011t0006g0142 a0004c0039t0001g0123 a0004c0040t0004g0042 a0005c0017t0002g0118 a0005c0017t0006g0093 a0006c0010t0004g0053 a0006c0035t0001g0016 a0009c0018t0004g0018 a0012c0021t0003g0015 a0013c0036t0004g0056 a0014c0031t0004g0027 a0016c0038t0005g0064 a0017c0028t0001g0040 a0018c0024t0002g0119 a0023c0019t0003g0146	65	141	0.4610	-33	c.-31 others(52): Show c.-311+1461_-311+1493delGTGGCAAATATATATATATATATATA TATATAT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIX5_chr19_45759785_45774252	45770204	CCAGCAGC others(26): Show CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG03831.hp1 HG02071.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	7	0.2857	-33	c.-13 others(44): Show c.-1393_-1361delCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	SIX5	ENSG00000177045.11	transcript	ENST00000317578.7	protein_coding		953		chr19	TogoVar
SI_chr3_164973898_165083496	164997905	GATTCCAT others(26): Show GATTCCATGTCTTTGGTGAATAGCGAACTGGCGA	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	264	0.0038	-33	c.454 others(50): Show c.4540+602_4540+634delTCGCCAGTTCGCTATTCACCAAAGACAT GGAAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	38/47			chr3	TogoVar
SKIC3_chr5_95458894_95559977	95492636	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp2 HG02886.hp1 others(3): Show HG02572.hp2 HG02615.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03453.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0023 a0004c0004t0005g0175 a0004c0004t0005g0176 others(2): Show a0004c0004t0005g0023 a0004c0004t0005g0175 a0004c0004t0005g0176 a0004c0004t0005g0177 a0004c0004t0005g0178	6	164	0.0366	-33	c.380 others(52): Show c.3803-1633_3803-1601delTTTTTTTTTTTTTTTTTCTTTTTTTT TTTTTTT	SKIC3	ENSG00000198677.13	transcript	ENST00000358746.7	protein_coding	36/42			chr5	TogoVar
SKOR1_chr15_67820509_67839582	67838827	GGAGATGT others(26): Show GGAGATGTCCCGCAGTCCCCTATGCTCGGCTGTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	426	0.0023	-33	c.49 others(44): Show c.4992_*5024delGAGATGTCCCGCAGTCCCCTATGCTCGGCTGTT	SKOR1	ENSG00000188779.12	transcript	ENST00000380035.3	protein_coding		4246		chr15	TogoVar
SLA2_chr20_36607318_36651196	36609200	CACGCACA others(26): Show CACGCACACACGCACACACGCACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0174 a0002c0002t0004g0174	1	358	0.0028	-33	c.46 others(44): Show c.4633_*4665delTGTGTGTGTGTGTGCGTGTGTGCGTGTGTGCGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3117		chr20	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01243.hp1 HG01884.hp2 others(12): Show HG00423.hp2 HG01243.hp1 HG01884.hp2 HG01943.hp1 HG01981.hp1 HG02280.hp1 HG02572.hp2 HG03927.hp2 NA18954.hp2 NA18971.hp2 NA18984.hp2 NA18998.hp1 NA19011.hp2 NA19030.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0179 a0001c0001t0001g0193 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0241	15	16	0.9375	-33	c.177 others(50): Show c.177-3558_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC12A7_chr5_1045384_1117063	1067802	AGACCCTG others(26): Show AGACCCTGTTATCACAAGTCAGCACCGTGTCGGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02622.hp1 HG02723.hp1 others(12): Show HG02040.hp2 HG02622.hp1 HG02723.hp1 HG02965.hp1 HG03098.hp2 HG03453.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp1 NA18984.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19091.hp1 NA20129.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0007 a0001c0010 a0001c0032 others(5): Show a0001c0007 a0001c0010 a0001c0032 a0002c0002 a0002c0011 a0002c0015 a0004c0033 a0006c0019	a0001c0007t0012 a0001c0010t0005 a0001c0032t0001 others(6): Show a0001c0007t0012 a0001c0010t0005 a0001c0032t0001 a0002c0002t0002 a0002c0002t0008 a0002c0011t0002 a0002c0015t0015 a0004c0033t0004 a0006c0019t0009	a0001c0007t0012g0001 a0001c0010t0005g0009 a0001c0010t0005g0024 others(12): Show a0001c0007t0012g0001 a0001c0010t0005g0009 a0001c0010t0005g0024 a0001c0010t0005g0025 a0001c0010t0005g0026 a0001c0032t0001g0112 a0002c0002t0002g0102 a0002c0002t0008g0099 a0002c0002t0008g0100 a0002c0011t0002g0030 a0002c0011t0002g0031 a0002c0011t0002g0034 a0002c0015t0015g0085 a0004c0033t0004g0072 a0006c0019t0009g0013	15	115	0.1304	-33	c.224 others(52): Show c.2242-2357_2242-2325delCCCGACACGGTGCTGACTTGTGATAA CAGGGTC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46656293	AATATACT others(26): Show AATATACTATACAGTATATATTATACTGTATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01496.hp2 others(3): Show HG00639.hp2 HG01106.hp2 HG01496.hp2 NA18971.hp1 NA18988.hp1 NA19058.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0005 a0004c0017 others(1): Show a0001c0001 a0001c0005 a0004c0017 a0005c0025	a0001c0001t0003 a0001c0005t0002 a0001c0005t0005 others(2): Show a0001c0001t0003 a0001c0005t0002 a0001c0005t0005 a0004c0017t0003 a0005c0025t0001	a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0005t0002g0251 others(3): Show a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0005t0002g0251 a0001c0005t0005g0104 a0004c0017t0003g0103 a0005c0025t0001g0102	6	169	0.0355	-33	c.-49 others(44): Show c.-4905_-4873delCATATACAGTATAATATATACTGTATAGTATAT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding		4835		chr20	TogoVar
SLC15A1_chr13_98678801_98757672	98730227	AAGGGGAA others(26): Show AAGGGGAAGGGAAGGGGAAGGGGAGGGGAAGGGG	A A	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	380	0.0026	-33	c.5-3 others(46): Show c.5-3401_5-3369delCCCCTTCCCCTCCCCTTCCCCTTCCCTTCCCC T	SLC15A1	ENSG00000088386.17	transcript	ENST00000376503.10	protein_coding	1/22			chr13	TogoVar
SLC15A1_chr13_98678801_98757672	98730238	AAGGGGAA others(26): Show AAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01515.hp2 HG00642.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0388 a0001c0001t0003g0019 a0001c0001t0003g0388	2	228	0.0088	-33	c.5-3 others(46): Show c.5-3412_5-3380delCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCC T	SLC15A1	ENSG00000088386.17	transcript	ENST00000376503.10	protein_coding	1/22			chr13	TogoVar
SLC15A5_chr12_16183485_16282685	16205559	TTCCATAA others(26): Show TTCCATAAGAAGGGAAAGGTGCATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 NA19060.hp2 others(3): Show HG00438.hp1 HG00741.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19082.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0014c0013	a0001c0001t0001 a0002c0002t0002 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0005t0001 a0014c0013t0001	a0001c0001t0001g0135 a0002c0002t0002g0043 a0002c0002t0002g0154 others(3): Show a0001c0001t0001g0135 a0002c0002t0002g0043 a0002c0002t0002g0154 a0002c0005t0001g0041 a0002c0005t0001g0177 a0014c0013t0001g0012	6	248	0.0242	-33	c.148 others(54): Show c.1484-11139_1484-11107delGTATATATATATGCACCTTTCCCT TCTTATGGA	SLC15A5	ENSG00000188991.3	transcript	ENST00000344941.3	protein_coding	7/8			chr12	TogoVar
SLC16A12_chr10_89425299_89540594	89486631	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18986.hp1 NA19002.hp2 NA18906.hp2 NA18986.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0005 a0002c0002t0001 a0002c0003t0003 a0001c0001t0005 a0002c0002t0001 a0002c0003t0003	a0001c0001t0005g0232 a0002c0002t0001g0268 a0002c0003t0003g0094 a0001c0001t0005g0232 a0002c0002t0001g0268 a0002c0003t0003g0094	3	287	0.0105	-33	c.-46 others(52): Show c.-46-24040_-46-24008delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	SLC16A12	ENSG00000152779.14	transcript	ENST00000371790.5	protein_coding	2/7			chr10	TogoVar
SLC16A7_chr12_59591029_59794841	59672071	GTATATAT others(26): Show GTATATATATGTGTATATATCGCATATATCCGTA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0232 a0001c0001t0041g0232	1	247	0.0040	-33	c.-31 others(52): Show c.-31+16829_-31+16861delATGTGTATATATCGCATATATCCGTA TATATAT	SLC16A7	ENSG00000118596.12	transcript	ENST00000547379.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
SLC16A9_chr10_59645764_59714850	59681663	GATGTATA others(26): Show GATGTATATGTATATGTATATGTATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0118 a0002c0002t0008g0118	1	268	0.0037	-33	c.196 others(50): Show c.196+2400_196+2432delTATATACATATACATATACATATACATA TACAT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC19A1_chr21_45507565_45547440	45522229	ACCAGGGA others(26): Show ACCAGGGAAATGCAAATTAAAACAATATTATGCC	A A	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0208 a0002c0002t0002g0208	1	316	0.0032	-33	c.129 others(52): Show c.1293+3555_1293+3587delGGCATAATATTGTTTTAATTTGCATT TCCCTGG	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	5/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45527430	TGGGCCCT others(26): Show TGGGCCCTGGAGGTGAGTGGCAGCCAGGCAGGGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	305	0.0033	-33	c.115 others(52): Show c.1152-1505_1152-1473delGCCCTGCCTGGCTGCCACTCACCTCC AGGGCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	4/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45527626	GGCGGGCC others(26): Show GGCGGGCCCTGGAGGTGAGTGGCAGTCAGTTACT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 NA20300.hp2 HG02559.hp2 HG03098.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0100 a0001c0001t0003g0269 a0001c0001t0003g0073 a0001c0001t0003g0100 a0001c0001t0003g0269	3	316	0.0095	-33	c.115 others(52): Show c.1152-1701_1152-1669delAGTAACTGACTGCCACTCACCTCCAG GGCCCGC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	4/5			chr21	TogoVar
SLC22A16_chr6_110419687_110481613	110454652	ATATATTA others(26): Show ATATATTATATATATTTATATATATTATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG01981.hp2 others(17): Show HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 NA18906.hp2 NA19030.hp2 NA19043.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0006 a0009c0011 a0001c0001 a0006c0006 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0006c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0006c0006t0001 a0009c0011t0001	a0001c0001t0001g0145 a0001c0001t0001g0242 a0001c0001t0001g0247 others(17): Show a0001c0001t0001g0145 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0307 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0392 a0001c0001t0002g0391 a0006c0006t0001g0239 a0006c0006t0001g0320 a0009c0011t0001g0243 a0009c0011t0001g0246 a0009c0011t0001g0249	20	414	0.0483	-33	c.533 others(50): Show c.533+1853_533+1885delAAATATATAATATATATAAATATATATA ATATA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	2/7			chr6	TogoVar
SLC22A16_chr6_110419687_110481613	110473491	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00597.hp1 others(68): Show HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp1 HG02965.hp1 HG03209.hp1 HG03239.hp2 HG03516.hp1 HG03579.hp2 HG04199.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18961.hp2 NA18963.hp1 NA18968.hp1 NA18968.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19089.hp2 NA19090.hp2 NA20905.hp2	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0010 a0017 a0019	a0001c0001 a0002c0002 a0002c0010 others(4): Show a0001c0001 a0002c0002 a0002c0010 a0009c0011 a0010c0014 a0017c0029 a0019c0027	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0010t0001 a0009c0011t0001 a0010c0014t0002 a0017c0029t0001 a0019c0027t0001	a0001c0001t0001g0016 a0001c0001t0001g0242 a0001c0001t0001g0307 others(66): Show a0001c0001t0001g0016 a0001c0001t0001g0242 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0331 a0001c0001t0001g0358 a0001c0001t0001g0393 a0001c0001t0002g0028 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0395 a0002c0002t0001g0018 a0002c0002t0001g0244 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0345 a0002c0002t0001g0347 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0351 a0002c0002t0001g0363 a0002c0002t0001g0364 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0368 a0002c0002t0001g0369 a0002c0002t0001g0370 a0002c0002t0001g0373 a0002c0002t0001g0374 a0002c0002t0001g0377 a0002c0002t0002g0281 a0002c0002t0002g0346 a0002c0002t0002g0348 a0002c0002t0002g0352 a0002c0002t0002g0375 a0002c0002t0003g0371 a0002c0002t0003g0372 a0002c0010t0001g0241 a0009c0011t0001g0243 a0010c0014t0002g0356 a0017c0029t0001g0337 a0019c0027t0001g0240	71	80	0.8875	-33	c.53+ others(48): Show c.53+2998_53+3030delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	SLC22A16	ENSG00000004809.14	transcript	ENST00000368919.8	protein_coding	1/7			chr6	TogoVar

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