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
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTGTCA others(190): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG03017.hp2 HG02040.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0026 a0001c0001t0006 a0001c0001t0026	a0001c0001t0006g0117 a0001c0001t0026g0120 a0001c0001t0006g0117 a0001c0001t0026g0120	2	100	0.0200	197	c.-20 others(208): Show c.-2076_-2075insTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1649		chr7	TogoVar
SAMD11_chr1_918923_949574	934959	C C	CGGGGGGG others(190): Show CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGC GTTACAGGTGGGCAGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGC GGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGTGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0004 a0002c0018t0004	a0002c0018t0004g0224 a0002c0018t0004g0224	1	420	0.0024	197	c.843 others(212): Show c.843-810_843-809insGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGT GTTACAGGTGGGCGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133668711	T T	TCCCCTCA others(190): Show TCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCTCACCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTC CCCTCACCCTCCCTCTCCCTCACCTCCCTCTCCCCTCACCCTCCCTCTCC CTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01109.hp2 HG01175.hp2 others(19): Show HG00423.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp2 HG01258.hp2 HG01433.hp2 HG02451.hp1 HG02486.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03453.hp1 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA18952.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19240.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0001c0006 a0001c0016 others(11): Show a0001c0001 a0001c0006 a0001c0016 a0002c0002 a0002c0005 a0002c0008 a0002c0021 a0002c0060 a0003c0003 a0003c0013 a0003c0017 a0003c0037 a0003c0056 a0014c0047	a0001c0001t0002 a0001c0006t0002 a0001c0016t0002 others(11): Show a0001c0001t0002 a0001c0006t0002 a0001c0016t0002 a0002c0002t0002 a0002c0005t0002 a0002c0008t0002 a0002c0021t0002 a0002c0060t0002 a0003c0003t0002 a0003c0013t0002 a0003c0017t0002 a0003c0037t0002 a0003c0056t0002 a0014c0047t0002	a0001c0001t0002g0178 a0001c0006t0002g0210 a0001c0016t0002g0172 others(19): Show a0001c0001t0002g0178 a0001c0006t0002g0210 a0001c0016t0002g0172 a0002c0002t0002g0227 a0002c0005t0002g0115 a0002c0005t0002g0125 a0002c0008t0002g0016 a0002c0008t0002g0061 a0002c0008t0002g0175 a0002c0021t0002g0207 a0002c0060t0002g0023 a0003c0003t0002g0047 a0003c0003t0002g0076 a0003c0003t0002g0157 a0003c0003t0002g0193 a0003c0013t0002g0024 a0003c0013t0002g0039 a0003c0013t0002g0051 a0003c0017t0002g0007 a0003c0037t0002g0126 a0003c0056t0002g0038 a0014c0047t0002g0065	22	208	0.1058	197	c.249 others(216): Show c.2496-1842_2496-1841insGAGAGGGAGGGTGAGGGAGAGGGAGG ATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGG TGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGT GAGGGGAGATGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTG AGGGAGAGGGAGGATGAGGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGTTGGG others(190): Show GGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	164	0.0061	197	c.464 others(210): Show c.464+83_464+84insTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGG TTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGG TTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGAGTGAGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCYL2_chr12_100262177_100346715	100294349	A A	ACCTCCCA others(190): Show ACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGTGACCCCCCCACCTCC CTCCCGGACGGGCCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp2 HG03225.hp1 HG02615.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0068 a0001c0001t0002g0096 a0001c0001t0007g0061 a0001c0001t0002g0068 a0001c0001t0002g0096 a0001c0001t0007g0061	3	217	0.0138	197	c.335 others(214): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(190): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0164 a0001c0010t0002g0164	1	130	0.0077	197	c.335 others(214): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGG GCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGC GGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(190): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(26): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00673.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01256.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG02004.hp1 HG02257.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp2 HG03579.hp2 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18942.hp2 NA18960.hp2 NA18981.hp1 NA19043.hp2 NA19078.hp1 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0001c0005 others(5): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0016 a0003c0008 a0004c0011	a0001c0002t0003 a0001c0003t0002 a0001c0005t0005 others(6): Show a0001c0002t0003 a0001c0003t0002 a0001c0005t0005 a0001c0007t0002 a0001c0007t0013 a0001c0010t0002 a0001c0016t0012 a0003c0008t0001 a0004c0011t0001	a0001c0002t0003g0018 a0001c0003t0002g0012 a0001c0003t0002g0166 others(25): Show a0001c0002t0003g0018 a0001c0003t0002g0012 a0001c0003t0002g0166 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0175 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0182 a0001c0003t0002g0184 a0001c0005t0005g0197 a0001c0005t0005g0198 a0001c0005t0005g0199 a0001c0005t0005g0200 a0001c0005t0005g0201 a0001c0005t0005g0202 a0001c0007t0002g0163 a0001c0007t0002g0169 a0001c0007t0013g0170 a0001c0010t0002g0165 a0001c0016t0012g0174 a0003c0008t0001g0090 a0004c0011t0001g0091 a0004c0011t0001g0099	29	158	0.1835	197	c.335 others(214): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGC GGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(190): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0167 a0001c0003t0010g0168 a0001c0003t0010g0167 a0001c0003t0010g0168	2	131	0.0153	197	c.335 others(214): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGC GGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(190): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCTGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19070.hp1 NA18961.hp1 NA19070.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0044 a0002c0004t0001g0052 a0002c0004t0001g0044 a0002c0004t0001g0052	2	131	0.0153	197	c.335 others(214): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCTGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGC GGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(190): Show GGGGGTGACCCCCCCACCTCCCTCCCGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGAGGCAGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0205 a0001c0002t0008g0205	1	130	0.0077	197	c.335 others(214): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCCGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGC AGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL2_chr12_100262177_100346715	100294428	G G	GGGGGTGA others(190): Show GGGGGTGACCCCCCCACCTCCCTCCTGGACGGGCCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGG GGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGAGGCGGCTGGCCGGGCAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00323.hp1 HG00323.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0087 a0001c0009t0001g0132 a0001c0009t0001g0087 a0001c0009t0001g0132	2	131	0.0153	197	c.335 others(214): Show c.335+2772_335+2773insTGACCCCCCCACCTCCCTCCTGGACGGG CCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGAGGC GGCTGGCCGGGCAGAGGGG	SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEL1L2_chr20_13844247_13995614	13934433	C C	CATATATA others(190): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATTC CATATATATATATTCCATATATATATATTCCATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0320 a0001c0001t0005g0320	1	243	0.0041	197	c.115 others(214): Show c.115-2663_115-2662insATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(190): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	20	0.0500	197	c.75- others(212): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGG AGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2354939	T T	TGGGGAAG others(190): Show TGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18979.hp2 NA18981.hp1 others(3): Show NA18946.hp2 NA18979.hp2 NA18981.hp1 NA18992.hp1 NA19010.hp2 NA19067.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0011 a0007c0009 a0001c0001 a0004c0011 a0007c0009	a0001c0001t0002 a0004c0011t0001 a0007c0009t0002 a0001c0001t0002 a0004c0011t0001 a0007c0009t0002	a0001c0001t0002g0380 a0004c0011t0001g0151 a0004c0011t0001g0382 others(3): Show a0001c0001t0002g0380 a0004c0011t0001g0151 a0004c0011t0001g0382 a0007c0009t0002g0375 a0007c0009t0002g0379 a0007c0009t0002g0381	6	302	0.0199	197	c.134 others(214): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGGGAAGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356530	G G	GGGGAAGG others(190): Show GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGAGTTGG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	420	0.0024	197	c.134 others(214): Show c.134-5104_134-5103insAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGAGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAA TCGGGGTGTAAGGGTTGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	401520	C C	CCACCCCG others(190): Show CCACCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACA CCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCCC GGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACACCCGGC CCCCGCTCACACCCGCCCCCGCTCACACCCCGCCCCGCTCACACCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	206	0.0049	197	c.43 others(208): Show c.4375_*4376insCGGGGTGTGAGCGGGGCGGGGTGTGAGCGGGGGC GGGTGTGAGCGGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGTCGG GTGTGAGCGGGGCCGGGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGCGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGA GCGGGGCGGGGTG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4195		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1069992	C C	CAGCCCCC others(190): Show CAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTG	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	100	0.0100	197	c.224 others(216): Show c.2241+3640_2241+3641insCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTGAT GCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGT GCTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(190): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	358	0.0028	197	c.152 others(214): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGA AAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(190): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATTATATATATATTA TATATATTATGTATAATATATATTATATATATTATATATTATGTATAATA TATATTTTATATATTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0289 a0001c0001t0017g0289	1	153	0.0065	197	c.784 others(212): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATATAATATA TATTATACATAATATATATAATATATATATAATATATAATATATATTATA CATAATATATATAATATATATATAATATATAATATATATTATACATAATA TATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(190): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATTATATATATATTA TATATATTATGTATAATATATATTATATATATTATATATTATGTATAATA TATATTTTATATATTATATATATTATGTATAATATATTTTATATATTA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0290 a0001c0001t0073g0290	1	153	0.0065	197	c.784 others(212): Show c.784+877_784+878insTAATATATAAAATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATAATATATATAATATA TATTATACATAATATATATAATATATATATAATATATAATATATATTATA CATAATATATATAATATATATATAATATATAATATATATTATACATAATA TATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SPATA13_chr13_24155720_24312069	24189682	T T	TTATATAT others(190): Show TTATATATATAATATGTAATATATTATATATATTTATATATATATGTAAT ATATTATATATATTTATATATATAATATGTAATATATTATATATATTTAT ATATATAATATGTAATATATTATATATATTTATATATATAATATGTAATA TATTATATATAAAAGTATATATAATATATAATATATTATATATAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02970.hp1 NA19043.hp2 HG02109.hp2 HG02970.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0050 a0002c0007 a0001c0005 a0001c0050 a0002c0007	a0001c0005t0024 a0001c0050t0002 a0002c0007t0087 a0001c0005t0024 a0001c0050t0002 a0002c0007t0087	a0001c0005t0024g0353 a0001c0050t0002g0354 a0002c0007t0087g0352 a0001c0005t0024g0353 a0001c0050t0002g0354 a0002c0007t0087g0352	3	82	0.0366	197	c.-11 others(218): Show c.-112+28758_-112+28759insTAATATGTAATATATTATATATAT TTATATATATATGTAATATATTATATATATTTATATATATAATATGTAAT ATATTATATATATTTATATATATAATATGTAATATATTATATATATTTAT ATATATAATATGTAATATATTATATATAAAAGTATATATAATATATAATA TATTATATATAAAAGTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TATATATA others(190): Show TATATATATAATATGTAATATATTATATATATTTATATATATATGTAATA TATTATATATATTTATATATATAATATGTAATATATTATATATATTTATA TATATAATATGTAATATATTATATATATTTATATATATAATATGTAATAT ATTATATATAAAAGTATATATAATATATAATATATTATATATAAAAGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0071 a0001c0004t0071	a0001c0004t0071g0120 a0001c0004t0071g0120	1	311	0.0032	197	c.-11 others(218): Show c.-112+28758_-112+28759insTAATATGTAATATATTATATATAT TTATATATATATGTAATATATTATATATATTTATATATATAATATGTAAT ATATTATATATATTTATATATATAATATGTAATATATTATATATATTTAT ATATATAATATGTAATATATTATATATAAAAGTATATATAATATATAATA TATTATATATAAAAGCATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46170053	T T	TCCTGCTC others(190): Show TCCTGCTCTGTGAGCATCCTCTGTGGTCCAGGAGGAGCCTCCTGCTCTGT GAACATCCTCTGTGGATGGGGAGGAGCCTCCCTGCTCTGTGAGCATCCTC TGTGGATGGGGAGGAGCCTCCTGCTCTGTGAGCATCCTCTGTGGTCCAGG AGGAGCCTCCTTCTCTGTGAACATCCTCTGTGGATGTGGAGGAGCCCC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	160	0.0063	197	c.194 others(214): Show c.194-1396_194-1395insGGGGCTCCTCCACATCCACAGAGGATGT TCACAGAGAAGGAGGCTCCTCCTGGACCACAGAGGATGCTCACAGAGCAG GAGGCTCCTCCCCATCCACAGAGGATGCTCACAGAGCAGGGAGGCTCCTC CCCATCCACAGAGGATGTTCACAGAGCAGGAGGCTCCTCCTGGACCACAG AGGATGCTCACAGAGCAGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/4			chr21	TogoVar
SPHKAP_chr2_227974955_228186687	227980237	C C	CGTCGTGG others(190): Show CGTCGTGGCATGCACCTGTAATCACAGCTACTCAGGAGGCTGAGGCAGGA GAATCGCTTGAACCTAGGAGGCGGAAGTTGCAGTGAGCTGAGATTTCACC ACTGCACTTCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAA AAAAAAAAAGAAAGAAAGAAAAAAATTTTCAAAGATTTCAGGATTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0016 a0005c0004t0016	a0005c0004t0016g0060 a0005c0004t0016g0060	1	320	0.0031	197	c.14 others(208): Show c.1479_*1480insAGAAATCCTGAAATCTTTGAAAATTTTTTTCTTT CTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCA GGCTGAAGTGCAGTGGTGAAATCTCAGCTCACTGCAACTTCCGCCTCCTA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGG TGCATGCCACGAC	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	12/12	1479		chr2	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(190): Show AGGGGAGGGAAGGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	6	0.1667	197	c.138 others(216): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCC TCCCCTCCCCCTTCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76112390	C C	CCCGGACT others(190): Show CCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCGACCTCCCTT CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCTCCCCACCTCCCTTC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCTTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGGCTAACCCCCCGACCTCCCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00741.hp1 others(4): Show HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01891.hp2 HG03098.hp2 NA18522.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0003t0003 a0002c0002t0001 a0003c0005t0001	a0001c0001t0002g0088 a0001c0001t0004g0094 a0001c0001t0006g0093 others(4): Show a0001c0001t0002g0088 a0001c0001t0004g0094 a0001c0001t0006g0093 a0001c0001t0024g0090 a0001c0003t0003g0092 a0002c0002t0001g0089 a0003c0005t0001g0008	7	102	0.0686	197	c.18+ others(214): Show c.18+37606_18+37607insGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCTTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGC TAACCCCCCGACCTCCCTTCCGGACTGGGCGGCTGGCCGGGCGGGGGGCT AACCCCCCGACCTCCCTTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTA ACCTCCCCACCTCCCTTCC	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(190): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCG GCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCC CTGACTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCT CCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	41	0.0244	197	c.483 others(210): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAG GGCTAGCAGCAGTCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCCGGGGCGGGGCCGGGGCGGAGCTCGGAGCGGGCA GGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATGTGTA others(190): Show TATGTGTATATATACATATATACATATACACCTATGTGTATATATAACAC ATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTATA TATAACACATATATACACCTATGTGTATATATAACACATATATACACCTA TGTGTATATATACATATATACATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02486.hp1 HG01069.hp2 HG01071.hp1 HG02486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0022 a0001c0005t0007 a0001c0005t0022	a0001c0005t0007g0003 a0001c0005t0022g0042 a0001c0005t0007g0003 a0001c0005t0022g0042	3	32	0.0938	197	c.158 others(216): Show c.1582-2863_1582-2862insGTGTATATATACATATATACATATAC ACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAACAC ATATATACACCTATGTGTATATATAACACATATATACACCTATGTGTATA TATAACACATATATACACCTATGTGTATATATACATATATACATATACAC ATATGTGTATATATAACACAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(190): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	111	0.0090	197	c.-23 others(216): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCC CGGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAOK1_chr17_29385363_29556903	29520583	C C	CTTTGTAT others(190): Show CTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	324	0.0031	197	c.190 others(216): Show c.1909-1686_1909-1685insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTTTGTATTTTT	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGG others(190): Show GAGGGGGGAGGGAGGTGGGGGAAGAGGGGGAGGGGGGGAGGGGAAGGGGG AGGAGGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGA AAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGG GAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGTGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0139 a0001c0010t0001g0139	1	148	0.0068	197	c.424 others(214): Show c.4243+579_4243+580insTCCACCTCCTCCCCCACTTCCCCCTCCC CTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCCCCTTCTTCCCC TCTTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCCCCCTCCCCCTCTTC CCCCACCTCCCTCCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628493	A A	ACGGGGTG others(190): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0175 a0001c0002t0002g0175	1	334	0.0030	197	c.299 others(214): Show c.299-1068_299-1067insAGCTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTC CCCTTCCCGCCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENM1_chrX_124370903_125209312	124974889	T T	TATATATA others(190): Show TATATATATATATATATATATATTATATATATATATATAAAATATATATA TATATATTATATATATATATAATATATATATATATATTATATATATATAT ATTATATATATATATTATATATATATATATATTATATATATATATTATAT ATATATATATATTATATATATATATATAAATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0004 a0003c0015t0004	a0003c0015t0004g0121 a0003c0015t0004g0121	1	133	0.0075	197	c.-64 others(216): Show c.-64-11073_-64-11072insTATATATATATATATATATTTATATA TATATATATAATATATATATATATATAATATATATATATAATATATATAT ATATATAATATATATATATAATATATATATATATAATATATATATATATA TTATATATATATATAATATATATATATATATTTTATATATATATATATAA TATATATATATATATATATAT	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34			chrX	TogoVar
TERT_chr5_1248167_1300068	1272948	G G	GCCATCCA others(190): Show GCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCACA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	367	0.0027	197	c.228 others(214): Show c.2287-669_2287-668insTGTGGGGGTCTGATGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1272982	G G	GACCGCCA others(190): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATC CACAGTCACATCAGACCCCCACAACCGCCATCCACAGTCACCACATCA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	326	0.0031	197	c.228 others(214): Show c.2287-703_2287-702insTGATGTGGTGACTGTGGATGGCGGTTGT GGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACACAT others(190): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACC GATCACCATCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACA GTCACCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	208	0.0048	197	c.228 others(216): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCG GTCACAGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX30_chr13_102760888_102778786	102776100	C C	CATATATA others(190): Show CATATATATGATATGTATGTATATACATATATATGTATATGTATATACAT ACATATGATATGTATGTATATACATATATATGTATATGTATATACATACA TATGATATGTATGTATATACATATATATGTATATGTATATACATACATAT GATATGTATGTATATACATATATATGTATATGTAGATACATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02976.hp1 HG02615.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	230	0.0087	197	c.-24 others(208): Show c.-2480_-2479insCATATATATGTATCTACATATACATATATATGTA TATACATACATATCATATGTATGTATATACATATACATATATATGTATAT ACATACATATCATATGTATGTATATACATATACATATATATGTATATACA TACATATCATATGTATGTATATACATATACATATATATGTATATACATAC ATATCATATATAT	TEX30	ENSG00000151287.17	transcript	ENST00000376032.9	protein_coding		2315		chr13	TogoVar
TFDP2_chr3_141939428_142154544	141969273	G G	GATATATA others(190): Show GATATATATATATAACATATATATATATCTCATATATATGAGATATATAT ATGTTATACATATATCTCATATATATGAGATATATATATGTTATATATAT ATCTCATATATATGAGATATATATATATGTTATATATATATCTCATATAT ATGAGATATATATATGTTATACATATATATATCTCATATATATGAGAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 NA21309.hp1 HG02280.hp2 HG03130.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0007 a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0007	3	170	0.0176	197	c.732 others(212): Show c.732+799_732+800insATCTCATATATATGAGATATATATATGTAT AACATATATATATCTCATATATATGAGATATATATATAACATATATATAT ATCTCATATATATGAGATATATATATAACATATATATATCTCATATATAT GAGATATATGTATAACATATATATATCTCATATATATGAGATATATATAT ATGTTATATATATATAT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TMCO3_chr13_113486021_113555229	113543122	C C	CCTGTCCG others(190): Show CCTGTCCGTGACCACCTCCTCCCCCTGCCCCACCTCTGTCCGTGACCCCA CCTGCTCCCCCTGCTCCCCGCCCTCCCTCTGTCCGTGACCCCACCTCCTC CCCCTGCCCCCCGCCCTCCCTCTGTCCGTGACCACCTCCTCCCCCTGCCC CACCTCTGTCCGTGACCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0086 a0002c0004t0004g0086	1	343	0.0029	197	c.169 others(216): Show c.1690+3638_1690+3639insCTGCCCCACCTCTGTCCGTGACCCCA CCTGCTCCCCCTGCTCCCCGCCCTCCCTCTGTCCGTGACCCCACCTCCTC CCCCTGCCCCCCGCCCTCCCTCTGTCCGTGACCACCTCCTCCCCCTGCCC CACCTCTGTCCGTGACCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCTCT GTCCGTGACCACCTCCTCCCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113543205	T T	TCTGTCCG others(190): Show TCTGTCCGTGACCACCTCCTCCCCCTGCCCCACCTCTGTCCGTGACCCCA CCTGCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCC TGCTCCCCGCCCTCCCTCTGTCCGTGACCACCTCCTCCCCGTGCCCCCCG CCCTACCTCTGTCCGGACCCCACCTCCTCCCCCTGCTCCCCGCCCTCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0099 a0001c0001t0004g0099	1	298	0.0034	197	c.169 others(216): Show c.1690+3725_1690+3726insCCCACCTCTGTCCGTGACCCCACCTG CTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCACCTCCTCCCCCTGCT CCCCGCCCTCCCTCTGTCCGTGACCACCTCCTCCCCGTGCCCCCCGCCCT ACCTCTGTCCGGACCCCACCTCCTCCCCCTGCTCCCCGCCCTCCCTGTCC GTGACCACCTCCTCCCCCTGC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120A_chr7_75981831_75999595	75988980	G G	GGGGGTGG others(190): Show GGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGG GGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTGG GGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGG GGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18964.hp2 NA18939.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	350	0.0057	197	c.377 others(212): Show c.377+184_377+185insTCCCCGCCTTCCCCTCCACACCCCCTCCCC GCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACCCCCCCACCCG GCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACACCCCCTCCCC GCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCCC GCCTTCCCCTCCACCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM86B_chr19_55221638_55233763	55226695	A A	AGGGGGGG others(190): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGCGGGGGGGGGGGGGGGATGGGAGGTCCTGGGATGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0014 a0001c0013t0014	a0001c0013t0014g0038 a0001c0013t0014g0038	1	428	0.0023	197	c.48 others(206): Show c.485_*486insCCATCCCAGGACCTCCCATCCCCCCCCCCCCCCCGC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCC	TMEM86B	ENSG00000180089.6	transcript	ENST00000327042.5	protein_coding	3/3	485		chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CCGGGGTT others(190): Show CCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTGGGGAGGCCAGGGGTTGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01361.hp2 HG01069.hp1 HG01071.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0110 a0001c0001t0009g0043 a0001c0001t0009g0110	3	436	0.0069	197	c.48 others(208): Show c.4881_*4882insCCTCCCCAACCCCTGGCCTCCCCAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCA ACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGC CTCCCTAACCCCG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930820	G G	GTTATGGA others(190): Show GTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	427	0.0023	197	c.47 others(208): Show c.4770_*4771insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAATC CCTGCCTCCATAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4549		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTATGGA others(190): Show GTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	362	0.0028	197	c.47 others(208): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCT CCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAATC CCTGCCTCCATAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TRPM4_chr19_49152792_49216836	49167752	C C	CTCTCTCT others(190): Show CTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCCGTCTCT CTGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGT CTCTGTCGCCATCTCTCTGGGTCTCTGTCCCATGTCTCTGGGTCTCTGTC CCTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTTTGTCCCCG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	292	0.0034	197	c.268 others(212): Show c.268-145_268-144insTCTCTCTCTGGGTCTCTGTCCCCGTCTCTC TGGGTCTCTGTCCCCGTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTC TCTGTCGCCATCTCTCTGGGTCTCTGTCCCATGTCTCTGGGTCTCTGTCC CTCTCTCTCTGGGTCTCTGTCCCCCTCTCTCTGGGTCTTTGTCCCCGTCT CTCTGGGTCTCTGTCCC	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBE2J2_chr1_1248912_1278854	1249273	G G	GGGACACG others(190): Show GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	322	0.0031	197	c.59 others(208): Show c.5929_*5930insGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCC TCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTG GGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGG CCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGG GCTGCCCGTGTCC	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4638		chr1	TogoVar
UNC5D_chr8_35230475_35801540	35248360	A A	AAATATAT others(190): Show AAATATATAATATATAAATATATGTTATATAAGAAATAGATATATATATA AATATATGTTATATAAGAAATAGATATAATATATAAATATATGTTATATA AGAAATAGATTATAATATATAATATATGTTATATATGAAATAGATATAAT ATATATTATATATGAAATAGATATAATATATAAATATATGTTATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0062 a0001c0002t0013g0062	1	17	0.0588	197	c.103 others(216): Show c.103+12473_103+12474insAATATATAATATATAAATATATGTTA TATAAGAAATAGATATATATATAAATATATGTTATATAAGAAATAGATAT AATATATAAATATATGTTATATAAGAAATAGATTATAATATATAATATAT GTTATATATGAAATAGATATAATATATATTATATATGAAATAGATATAAT ATATAAATATATGTTATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16			chr8	TogoVar
USP43_chr17_9640517_9734687	9718678	T T	TAAAAATA others(190): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAG CGAGACTCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0301 a0001c0004t0001g0301	1	293	0.0034	197	c.233 others(216): Show c.2335+6558_2335+6559insAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC AGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCT GGGTGACAGAGCGAGACTCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATACAAAA	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
USP43_chr17_9640517_9734687	9718678	T T	TAAAAATA others(190): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAG CGAGACTCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01361.hp1 HG02056.hp2 others(5): Show HG00597.hp1 HG01361.hp1 HG02056.hp2 NA18946.hp1 NA18971.hp1 NA18980.hp1 NA18980.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0007 others(3): Show a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0038 a0001c0043	a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 others(3): Show a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0001c0038t0001 a0001c0043t0001	a0001c0002t0001g0008 a0001c0004t0001g0182 a0001c0004t0001g0268 others(5): Show a0001c0002t0001g0008 a0001c0004t0001g0182 a0001c0004t0001g0268 a0001c0007t0001g0050 a0001c0007t0001g0076 a0001c0008t0001g0173 a0001c0038t0001g0013 a0001c0043t0001g0203	8	300	0.0267	197	c.233 others(216): Show c.2335+6558_2335+6559insAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCT GGGTGACAGAGCGAGACTCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAATACAAAA	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr17	TogoVar

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