Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC39A8_chr4_102256666_102350482	102350130	TATATATA others(35): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	248	0.0040	-42	c.-50 others(53): Show c.-5081_-5040delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATAT		SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding					4649		chr4	TogoVar
SLC44A5_chr1_75197129_75616114	75330135	ACACACAT others(35): Show ACACACATGCATATACGTATATGCATATATATACGTATATATG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp1 HG02976.hp1 others(5): Show HG02615.hp2 HG02630.hp1 HG02976.hp1 HG03041.hp1 HG03209.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0005t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0005t0005 a0001c0005t0007 a0001c0006t0001	a0001c0001t0001g0085 a0001c0001t0003g0145 a0001c0005t0005g0080 others(5): Show a0001c0001t0001g0085 a0001c0001t0003g0145 a0001c0005t0005g0080 a0001c0005t0005g0153 a0001c0005t0005g0154 a0001c0005t0007g0089 a0001c0005t0007g0130 a0001c0006t0001g0066	8	154	0.0519	-42	c.101 others(59): Show c.101+9405_101+9446delCATATATACGTATATATATGCATATACG TATATGCATGTGTG		SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	4/23						chr1	TogoVar
SLC4A10_chr2_161619416_161990270	161983038	TGTGCTTC others(35): Show TGTGCTTCGCAGCATGAGAGAGCAATGCCTACGGGCTCTTGTG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	116	0.0086	-42	c.27 others(56): Show c.27-134_*27-93delCGCAGCATGAGAGAGCAATGCCTACGGGCTC TTGTGGTGCTT		SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC4A8_chr12_51419831_51520763	51520053	TTGGAGAA others(35): Show TTGGAGAAGGAAAAGAAGTTATAGATTGGGTCCCACAGGCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0304 a0002c0007t0003g0304	1	356	0.0028	-42	c.12 others(55): Show c.12616_*12657delTGGAGAAGGAAAAGAAGTTATAGATTGGGTCC CACAGGCAGG		SLC4A8	ENSG00000050438.17	transcript	ENST00000453097.7	protein_coding					4291		chr12	TogoVar
SLC5A5_chr19_17866945_17900174	17867332	CACCTCCT others(35): Show CACCTCCTCAGGTGCTGAGGCGCTCCTGGGTCTCGTTCCTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0019 a0008c0015t0019	a0008c0015t0019g0145 a0008c0015t0019g0145	1	412	0.0024	-42	c.-49 others(53): Show c.-4987_-4946delACCTCCTCAGGTGCTGAGGCGCTCCTGGGTCTCG TTCCTGGG		SLC5A5	ENSG00000105641.4	transcript	ENST00000222248.4	protein_coding					4612		chr19	TogoVar
SLC6A5_chr11_20594608_20664285	20600335	GGAAGAAG others(35): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0203 a0004c0006t0001g0203	1	107	0.0093	-42	c.3+6 others(53): Show c.3+696_4-717delAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGA		SLC6A5	ENSG00000165970.12	transcript	ENST00000525748.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC7A1_chr13_29504414_29600688	29558788	TGAGGGGG others(35): Show TGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGAATCTGAATGA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG02717.hp2 others(3): Show HG02280.hp2 HG02559.hp1 HG02717.hp2 HG02965.hp2 HG03041.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0026 a0001c0005t0006 a0001c0005t0026	a0001c0005t0006g0120 a0001c0005t0006g0121 a0001c0005t0006g0122 others(3): Show a0001c0005t0006g0120 a0001c0005t0006g0121 a0001c0005t0006g0122 a0001c0005t0006g0123 a0001c0005t0006g0124 a0001c0005t0026g0039	6	327	0.0183	-42	c.-11 others(61): Show c.-114-4970_-114-4929delTCATTCAGATTCACTCTGCCTCACTC ACATTCTCTCCCCCTC		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC9A3_chr5_465456_529449	505539	GGGGGGTG others(35): Show GGGGGGTGGGGTGGGGAGTGACCACGGAGGTGAGAGTGACTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp2 HG02897.hp1 HG02257.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157	3	210	0.0143	-42	c.212 others(61): Show c.212-13510_212-13469delACAGTCACTCTCACCTCCGTGGTCAC TCCCCACCCCACCCCC		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SLC9A5_chr16_67243979_67277191	67268670	ATATATAT others(35): Show ATATATATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0059 a0006c0013t0002g0059	1	202	0.0050	-42	c.221 others(61): Show c.2219-2066_2219-2025delATATATATATATATATATATATATAT ATATATATATATATTT		SLC9A5	ENSG00000135740.17	transcript	ENST00000299798.16	protein_coding	15/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC9A6_chrX_135980435_136052269	136020324	ATTGTTTT others(35): Show ATTGTTTTATTCAGTCATTTTTTAATTATTATTACTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	197	0.0051	-42	c.119 others(61): Show c.1195-2258_1195-2217delTTTTATTCAGTCATTTTTTAATTATT ATTACTTTTTTTTTTG		SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	11/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC9A9_chr3_143260222_143853468	143705004	TATCTATC others(35): Show TATCTATCTATCTATCTATCTATCTATCTATCTATCTATATAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG03453.hp1 others(4): Show HG02723.hp2 HG02970.hp2 HG03453.hp1 HG03453.hp2 HG04115.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0012 a0001c0015	a0001c0001t0010 a0001c0001t0024 a0001c0002t0001 others(4): Show a0001c0001t0010 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0004t0015 a0001c0012t0007 a0001c0015t0021	a0001c0001t0010g0020 a0001c0001t0024g0103 a0001c0002t0001g0071 others(4): Show a0001c0001t0010g0020 a0001c0001t0024g0103 a0001c0002t0001g0071 a0001c0002t0003g0067 a0001c0004t0015g0100 a0001c0012t0007g0093 a0001c0015t0021g0066	7	106	0.0660	-42	c.534 others(61): Show c.534-11739_534-11698delCTATATAGATAGATAGATAGATAGAT AGATAGATAGATAGAT		SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15						chr3	TogoVar
SLC9A9_chr3_143260222_143853468	143705010	TCTATCTA others(35): Show TCTATCTATCTATCTATCTATCTATCTATCTATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0074 a0001c0003t0008g0074	1	106	0.0094	-42	c.534 others(61): Show c.534-11745_534-11704delCTATATCTATATAGATAGATAGATAG ATAGATAGATAGATAG		SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15						chr3	TogoVar
SLC9B1_chr4_102895928_103024705	102912734	AGCCCGGT others(35): Show AGCCCGGTATGTGGTGTGTGCCTATAGTCCAAGTACTCAGTAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	316	0.0032	-42	c.830 others(59): Show c.830-1239_830-1198delCTACTGAGTACTTGGACTATAGGCACAC ACCACATACCGGGC		SLC9B1	ENSG00000164037.17	transcript	ENST00000296422.12	protein_coding	7/11						chr4	TogoVar
SLCO3A1_chr15_91848708_92170903	92047569	TAAATATA others(35): Show TAAATATATATATAATATATATATAATATATAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0043 a0002c0005t0043	a0002c0005t0043g0184 a0002c0005t0043g0184	1	185	0.0054	-42	c.647 others(61): Show c.647-47310_647-47269delAATATATATATAATATATATATAATA TATAATATATATATAA		SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
SLCO6A1_chr5_102366774_102504001	102460899	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	20	0.0500	-42	c.900 others(59): Show c.900-1164_900-1123delATATATATATATATATATATATATATAT ATATATATATATAT		SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	4/13						chr5	TogoVar
SLFN12L_chr17_35459254_35542678	35539334	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(71): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp2 HG02004.hp1 HG02074.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18989.hp2 NA19063.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0020 others(7): Show a0001c0001 a0001c0002 a0001c0020 a0002c0003 a0003c0005 a0003c0007 a0005c0006 a0007c0009 a0008c0010 a0011c0012	a0001c0001t0027 a0001c0001t0054 a0001c0001t0057 others(50): Show a0001c0001t0027 a0001c0001t0054 a0001c0001t0057 a0001c0001t0058 a0001c0001t0068 a0001c0001t0103 a0001c0001t0113 a0001c0001t0119 a0001c0002t0002 a0001c0002t0019 a0001c0002t0020 a0001c0002t0026 a0001c0002t0029 a0001c0002t0034 a0001c0002t0043 a0001c0002t0045 a0001c0002t0049 a0001c0002t0059 a0001c0002t0060 a0001c0002t0069 a0001c0002t0071 a0001c0002t0083 a0001c0002t0138 a0001c0002t0147 a0001c0002t0148 a0001c0020t0034 a0002c0003t0001 a0002c0003t0011 a0002c0003t0021 a0002c0003t0024 a0002c0003t0033 a0002c0003t0048 a0002c0003t0055 a0002c0003t0056 a0002c0003t0108 a0002c0003t0109 a0003c0005t0013 a0003c0005t0015 a0003c0005t0047 a0003c0005t0052 a0003c0005t0063 a0003c0005t0064 a0003c0005t0065 a0003c0007t0028 a0003c0007t0062 a0003c0007t0093 a0005c0006t0005 a0005c0006t0035 a0005c0006t0046 a0007c0009t0050 a0007c0009t0051 a0008c0010t0030 a0011c0012t0053	a0001c0001t0027g0003 a0001c0001t0027g0004 a0001c0001t0054g0012 others(69): Show a0001c0001t0027g0003 a0001c0001t0027g0004 a0001c0001t0054g0012 a0001c0001t0057g0010 a0001c0001t0058g0020 a0001c0001t0068g0046 a0001c0001t0103g0052 a0001c0001t0113g0083 a0001c0001t0119g0042 a0001c0002t0002g0064 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0072 a0001c0002t0002g0079 a0001c0002t0019g0008 a0001c0002t0019g0013 a0001c0002t0019g0014 a0001c0002t0020g0036 a0001c0002t0020g0037 a0001c0002t0020g0038 a0001c0002t0026g0062 a0001c0002t0029g0028 a0001c0002t0029g0030 a0001c0002t0034g0076 a0001c0002t0043g0067 a0001c0002t0045g0005 a0001c0002t0049g0033 a0001c0002t0059g0006 a0001c0002t0060g0021 a0001c0002t0069g0051 a0001c0002t0071g0047 a0001c0002t0083g0043 a0001c0002t0138g0053 a0001c0002t0147g0059 a0001c0002t0148g0060 a0001c0020t0034g0077 a0002c0003t0001g0068 a0002c0003t0011g0009 a0002c0003t0011g0015 a0002c0003t0011g0019 a0002c0003t0011g0022 a0002c0003t0011g0023 a0002c0003t0011g0025 a0002c0003t0021g0048 a0002c0003t0024g0073 a0002c0003t0033g0075 a0002c0003t0033g0078 a0002c0003t0048g0029 a0002c0003t0055g0016 a0002c0003t0056g0017 a0002c0003t0108g0063 a0002c0003t0109g0066 a0003c0005t0013g0001 a0003c0005t0013g0050 a0003c0005t0015g0071 a0003c0005t0047g0034 a0003c0005t0052g0011 a0003c0005t0063g0049 a0003c0005t0064g0045 a0003c0005t0065g0074 a0003c0007t0028g0027 a0003c0007t0028g0031 a0003c0007t0062g0035 a0003c0007t0093g0058 a0005c0006t0005g0133 a0005c0006t0035g0065 a0005c0006t0046g0032 a0007c0009t0050g0039 a0007c0009t0051g0040 a0008c0010t0030g0024 a0008c0010t0030g0026 a0011c0012t0053g0007	74	355	0.2085	-42	c.-24 others(53): Show c.-2409_-2368delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT		SLFN12L	ENSG00000205045.12	transcript	ENST00000628453.4	protein_coding					1657		chr17	TogoVar
SLFN14_chr17_35538985_35565819	35539334	AAGAAAGA others(35): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(78): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01884.hp2 HG01952.hp1 HG02004.hp1 HG02074.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18989.hp2 NA19063.hp1 NA19085.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0015 a0016 a0017 a0018	a0001c0001 a0001c0006 a0002c0002 others(13): Show a0001c0001 a0001c0006 a0002c0002 a0002c0016 a0003c0003 a0004c0004 a0005c0005 a0006c0007 a0007c0008 a0008c0009 a0008c0029 a0011c0020 a0015c0019 a0016c0022 a0017c0025 a0018c0028	a0001c0001t0001 a0001c0006t0012 a0001c0006t0013 others(21): Show a0001c0001t0001 a0001c0006t0012 a0001c0006t0013 a0001c0006t0022 a0001c0006t0025 a0001c0006t0045 a0002c0002t0002 a0002c0016t0031 a0003c0003t0040 a0004c0004t0005 a0005c0005t0007 a0005c0005t0010 a0005c0005t0017 a0005c0005t0019 a0006c0007t0006 a0006c0007t0026 a0007c0008t0008 a0008c0009t0006 a0008c0029t0006 a0011c0020t0041 a0015c0019t0046 a0016c0022t0032 a0017c0025t0010 a0018c0028t0008	a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0006t0012g0027 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0078 a0001c0006t0012g0027 a0001c0006t0012g0040 a0001c0006t0013g0020 a0001c0006t0013g0053 a0001c0006t0022g0108 a0001c0006t0025g0045 a0001c0006t0045g0141 a0002c0002t0002g0127 a0002c0016t0031g0049 a0003c0003t0040g0089 a0004c0004t0005g0005 a0005c0005t0007g0006 a0005c0005t0007g0144 a0005c0005t0007g0146 a0005c0005t0007g0148 a0005c0005t0007g0153 a0005c0005t0010g0026 a0005c0005t0010g0039 a0005c0005t0017g0031 a0005c0005t0017g0151 a0005c0005t0019g0123 a0006c0007t0006g0010 a0006c0007t0006g0017 a0006c0007t0006g0025 a0006c0007t0026g0095 a0007c0008t0008g0008 a0007c0008t0008g0014 a0007c0008t0008g0101 a0008c0009t0006g0013 a0008c0009t0006g0098 a0008c0009t0006g0126 a0008c0029t0006g0121 a0011c0020t0041g0107 a0015c0019t0046g0142 a0016c0022t0032g0100 a0017c0025t0010g0052 a0018c0028t0008g0051	81	421	0.1924	-42	c.88 others(53): Show c.8863_*8904delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT		SLFN14	ENSG00000236320.4	transcript	ENST00000674182.1	protein_coding					4650		chr17	TogoVar
SLURP1_chr8_142735949_142747406	142744844	GTGGGGGA others(35): Show GTGGGGGATGGATAGATGGATGGGTGGGGGATGGATAGATGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-42	c.-25 others(53): Show c.-2501_-2460delTCCATCTATCCATCCCCCACCCATCCATCTATCC ATCCCCCA		SLURP1	ENSG00000126233.2	transcript	ENST00000246515.2	protein_coding					2439		chr8	TogoVar
SMC4_chr3_160394650_160439953	160400882	CGCCGCCG others(35): Show CGCCGCCGTCCCCTGACGGCGCCAGCAGCGACGCGGAGCCTGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18939.hp1 NA18959.hp2 NA18983.hp1 others(3): Show NA18939.hp1 NA18959.hp2 NA18983.hp1 NA18988.hp1 NA18997.hp1 NA19059.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0075 a0003c0003t0002g0081 others(2): Show a0003c0003t0002g0027 a0003c0003t0002g0075 a0003c0003t0002g0081 a0003c0003t0002g0107 a0003c0003t0002g0192	6	330	0.0182	-42	c.67_ others(48): Show c.67_108delCCTGACGGCGCCAGCAGCGACGCGGAGCCTGAGCCGCCG TCC	p.Pro others(11): Show p.Pro23_Ser36del	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	2/24	172/5116	67/3867	23/1288		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMURF1_chr7_99022440_99149108	99063237	TTATTTAT others(35): Show TTATTTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp2 others(8): Show HG01081.hp1 HG01167.hp2 HG01169.hp2 HG02109.hp2 HG02280.hp1 HG02451.hp1 HG02572.hp2 HG02615.hp2 HG03516.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0012 others(7): Show a0001c0001t0005g0008 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0114 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0170 a0001c0001t0010g0002 a0001c0001t0010g0248 a0001c0001t0010g0249	11	176	0.0625	-42	c.56- others(57): Show c.56-1442_56-1401delTATATATATATATATATATATATATATATA TATATATAAATA		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17						chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063264	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(60): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02071.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02698.hp1 HG03669.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18945.hp1 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18973.hp1 NA18979.hp1 NA18984.hp2 NA18987.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19079.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0032 a0001c0005t0001	a0001c0001t0001g0087 a0001c0001t0001g0124 a0001c0001t0002g0242 others(60): Show a0001c0001t0001g0087 a0001c0001t0001g0124 a0001c0001t0002g0242 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0035 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0053 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0128 a0001c0002t0001g0136 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0169 a0001c0002t0002g0214 a0001c0002t0002g0217 a0001c0002t0002g0221 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0008g0029 a0001c0002t0008g0055 a0001c0002t0008g0060 a0001c0002t0008g0127 a0001c0002t0008g0173 a0001c0002t0008g0191 a0001c0002t0032g0034 a0001c0005t0001g0063	63	262	0.2405	-42	c.56- others(57): Show c.56-1469_56-1428delTTATATATATATATATATATATATATATAT ATATATATATAT		SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17						chr7	TogoVar
SMURF2_chr17_64537282_64667307	64583843	AAAATGGC others(35): Show AAAATGGCTATACTAAGAATATATTTAACCATAAAATCACGAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02717.hp1 others(1): Show HG02257.hp2 HG02280.hp1 HG02717.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0011 a0004c0008t0022 a0001c0001t0011 a0004c0008t0022	a0001c0001t0011g0031 a0001c0001t0011g0032 a0001c0001t0011g0033 others(1): Show a0001c0001t0011g0031 a0001c0001t0011g0032 a0001c0001t0011g0033 a0004c0008t0022g0148	4	172	0.0233	-42	c.486 others(57): Show c.486-341_486-300delCTCGTGATTTTATGGTTAAATATATTCTTA GTATAGCCATTT		SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	6/18						chr17	TogoVar
SNTG1_chr8_49906407_50801692	50645148	TTTTATAG others(35): Show TTTTATAGAAGGTTCTATAATGAACCTTGAAACATATAGAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00621.hp2 others(94): Show HG00280.hp1 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18952.hp2 NA18968.hp2 NA18992.hp1 NA18992.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(49): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0014 a0001c0002t0021 a0001c0002t0025 a0001c0002t0029 a0001c0002t0034 a0001c0002t0036 a0001c0002t0038 a0001c0002t0039 a0001c0002t0044 a0001c0002t0045 a0001c0002t0047 a0001c0005t0019 a0002c0003t0018 a0002c0003t0043 a0003c0004t0005	a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0015 others(94): Show a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0068 a0001c0001t0003g0007 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0102 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0035 a0001c0001t0006g0051 a0001c0001t0006g0066 a0001c0001t0007g0006 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0039 a0001c0001t0008g0061 a0001c0001t0008g0071 a0001c0001t0008g0091 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0010g0030 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0012g0049 a0001c0001t0012g0063 a0001c0001t0013g0009 a0001c0001t0013g0067 a0001c0001t0015g0001 a0001c0001t0016g0003 a0001c0001t0017g0057 a0001c0001t0020g0043 a0001c0001t0022g0004 a0001c0001t0023g0002 a0001c0001t0024g0058 a0001c0001t0027g0070 a0001c0001t0030g0053 a0001c0001t0031g0055 a0001c0001t0032g0052 a0001c0001t0033g0056 a0001c0001t0035g0031 a0001c0001t0037g0034 a0001c0001t0040g0005 a0001c0001t0041g0025 a0001c0001t0042g0048 a0001c0001t0046g0104 a0001c0001t0048g0105 a0001c0001t0049g0106 a0001c0001t0050g0038 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0003g0008 a0001c0002t0003g0011 a0001c0002t0003g0029 a0001c0002t0003g0041 a0001c0002t0006g0054 a0001c0002t0006g0064 a0001c0002t0006g0065 a0001c0002t0010g0012 a0001c0002t0010g0028 a0001c0002t0014g0014 a0001c0002t0014g0076 a0001c0002t0021g0073 a0001c0002t0025g0090 a0001c0002t0029g0089 a0001c0002t0034g0062 a0001c0002t0036g0016 a0001c0002t0038g0069 a0001c0002t0039g0075 a0001c0002t0044g0047 a0001c0002t0045g0046 a0001c0002t0047g0103 a0001c0005t0019g0044 a0002c0003t0018g0045 a0002c0003t0043g0050 a0003c0004t0005g0040	97	106	0.9151	-42	c.850 others(61): Show c.850-11759_850-11718delTTATAGAAGGTTCTATAATGAACCTT GAAACATATAGAAAAT		SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	13/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0072 a0003c0008t0002g0072	1	11	0.0909	-42	c.72+ others(59): Show c.72+54766_72+54807delTATATATATATATATATATATATATATA TATATATATATATA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255895	AATATATA others(35): Show AATATATATATAAATATATATATAAATATATAAATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp2 HG01106.hp1 others(51): Show HG00642.hp1 HG00673.hp2 HG01106.hp1 HG01169.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01891.hp1 HG02015.hp2 HG02132.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04184.hp1 NA18522.hp1 NA18961.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18984.hp1 NA19000.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp1	a0003 a0004 a0005 others(6): Show a0003 a0004 a0005 a0006 a0010 a0012 a0013 a0018 a0019	a0003c0007 a0003c0008 a0004c0004 others(11): Show a0003c0007 a0003c0008 a0004c0004 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0006c0028 a0010c0013 a0012c0019 a0013c0018 a0018c0035 a0019c0030	a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 others(15): Show a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0004c0004t0001 a0004c0004t0002 a0004c0014t0001 a0004c0014t0002 a0005c0006t0001 a0005c0006t0002 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0006c0028t0001 a0010c0013t0001 a0012c0019t0001 a0013c0018t0001 a0018c0035t0001 a0019c0030t0001	a0003c0007t0001g0007 a0003c0007t0001g0060 a0003c0007t0001g0104 others(51): Show a0003c0007t0001g0007 a0003c0007t0001g0060 a0003c0007t0001g0104 a0003c0007t0001g0116 a0003c0007t0001g0184 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0008t0001g0132 a0004c0004t0001g0040 a0004c0004t0001g0047 a0004c0004t0001g0065 a0004c0004t0001g0088 a0004c0004t0001g0112 a0004c0004t0001g0124 a0004c0004t0001g0142 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0004c0004t0001g0180 a0004c0004t0001g0181 a0004c0004t0002g0074 a0004c0014t0001g0036 a0004c0014t0001g0054 a0004c0014t0002g0001 a0005c0006t0001g0020 a0005c0006t0001g0079 a0005c0006t0001g0081 a0005c0006t0001g0082 a0005c0006t0001g0083 a0005c0006t0001g0085 a0005c0006t0001g0086 a0005c0006t0002g0003 a0005c0015t0001g0037 a0005c0015t0001g0103 a0005c0015t0001g0153 a0006c0009t0001g0028 a0006c0009t0001g0048 a0006c0009t0001g0050 a0006c0009t0001g0093 a0006c0009t0001g0129 a0006c0009t0001g0162 a0006c0010t0001g0008 a0006c0010t0001g0010 a0006c0010t0001g0165 a0006c0028t0001g0127 a0010c0013t0001g0042 a0012c0019t0001g0138 a0012c0019t0001g0157 a0013c0018t0001g0045 a0013c0018t0001g0046 a0018c0035t0001g0071 a0019c0030t0001g0160	54	187	0.2888	-42	c.100 others(61): Show c.1006-3463_1006-3422delAATATATATATAAATATATAAATATA TAAATATATATATATA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX16_chr8_81794583_81847185	81842519	AGAGAGAA others(35): Show AGAGAGAAAGAGAAAGAAAACGAGCGAGGGAGAGAGCGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG02602.hp1 others(2): Show HG00741.hp1 HG01175.hp2 HG02602.hp1 HG03688.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0002t0003	a0001c0001t0002g0007 a0001c0001t0002g0210 a0001c0001t0004g0130 others(2): Show a0001c0001t0002g0007 a0001c0001t0002g0210 a0001c0001t0004g0130 a0001c0001t0018g0222 a0001c0002t0003g0088	5	302	0.0166	-42	c.-53 others(51): Show c.-536_-495delGCTCTCGCTCTCTCCCTCGCTCGTTTTCTTTCTCTT TCTCTC		SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding					335		chr8	TogoVar
SNX29_chr16_11971734_12579287	12239288	AGGTGGTG others(35): Show AGGTGGTGTGTAGTGACCAGCTGGAGCCCACGTCTCTAGCACC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0162 a0001c0001t0108g0162	1	174	0.0057	-42	c.167 others(63): Show c.1679-38644_1679-38603delGGTGGTGTGTAGTGACCAGCTGGA GCCCACGTCTCTAGCACC		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20						chr16	TogoVar
SNX29_chr16_11971734_12579287	12567269	CAGTGGAT others(35): Show CAGTGGATCCAGGACTTACATCCAGCAAGCCACAGCAGCACAG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0030 a0001c0001t0034g0030	1	174	0.0057	-42	c.231 others(61): Show c.2319-1234_2319-1193delTGGATCCAGGACTTACATCCAGCAAG CCACAGCAGCACAGAG		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX32_chr11_65828963_65858701	65832530	TCAGCTTC others(35): Show TCAGCTTCTCTCCACTCAACCTCAGCTTCTCATCACTGGTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG03139.hp2 others(2): Show HG01891.hp1 HG02809.hp1 HG03139.hp2 HG03471.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0020 a0001c0001t0002g0114 a0001c0001t0002g0115	5	388	0.0129	-42	c.-15 others(53): Show c.-1535_-1494delCAGCTTCTCTCCACTCAACCTCAGCTTCTCATCA CTGGTTCC		SNX32	ENSG00000172803.18	transcript	ENST00000308342.7	protein_coding					1432		chr11	TogoVar
SNX4_chr3_125441650_125525202	125466115	GTTTTATG others(35): Show GTTTTATGTTTTGATGTTATCATAAATAGCATTATTTTAAATT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0015 a0001c0001t0001g0016	2	358	0.0056	-42	c.854 others(59): Show c.854+3297_854+3338delAATTTAAAATAATGCTATTTATGATAAC ATCAAAACATAAAA		SNX4	ENSG00000114520.11	transcript	ENST00000251775.9	protein_coding	9/13						chr3	TogoVar
SNX6_chr14_34556093_34635148	34557496	ATTCTTCT others(35): Show ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	68	0.0147	-42	c.55 others(53): Show c.5584_*5625delGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAA		SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding					3596		chr14	TogoVar
SOBP_chr6_107485117_107666306	107656328	AAAGAAAG others(35): Show AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGT	A A	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	294	0.0034	-42	c.4- others(57): Show c.4-1875_*4-1834delAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAAGTAAG		SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01257.hp1 others(4): Show HG00597.hp1 HG00597.hp2 HG01257.hp1 HG01258.hp1 HG02965.hp1 HG03098.hp2 HG03486.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0023	a0001c0001 a0002c0003 a0009c0050 others(1): Show a0001c0001 a0002c0003 a0009c0050 a0023c0052	a0001c0001t0001 a0002c0003t0001 a0009c0050t0006 others(1): Show a0001c0001t0001 a0002c0003t0001 a0009c0050t0006 a0023c0052t0001	a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0079 a0002c0003t0001g0190 a0009c0050t0006g0106 a0023c0052t0001g0069	7	65	0.1077	-42	c.11 others(53): Show c.1181_*1222delACACACACACACACACACACACACACACACACAC ACACACAC		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					124		chr21	TogoVar
SON_chr21_33538038_33582481	33577661	ACACACAC others(35): Show ACACACACACACACACACACACACACACACACACACACACACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18990.hp2 HG00438.hp1 NA18990.hp2	a0002 a0002	a0002c0003 a0002c0029 a0002c0003 a0002c0029	a0002c0003t0001 a0002c0029t0001 a0002c0003t0001 a0002c0029t0001	a0002c0003t0001g0051 a0002c0029t0001g0027 a0002c0003t0001g0051 a0002c0029t0001g0027	2	361	0.0055	-42	c.12 others(53): Show c.1238_*1279delCACACACACACACACACACACACACACACACACA CACACACC		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					181		chr21	TogoVar
SOX5_chr12_23524504_23954670	23726118	CGAGAGAG others(35): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	15	0.0667	-42	c.810 others(59): Show c.810+8524_810+8565delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14						chr12	TogoVar
SPAG16_chr2_213279464_214415501	213643346	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp2 NA19030.hp1 NA19043.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0006 a0002c0002 a0006c0006	a0002c0002t0001 a0006c0006t0001 a0002c0002t0001 a0006c0006t0001	a0002c0002t0001g0018 a0006c0006t0001g0082 a0002c0002t0001g0018 a0006c0006t0001g0082	2	47	0.0426	-42	c.107 others(65): Show c.1070+153258_1070+153299delTTATATATATATATATATATAT ATATATATATATATATATAT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02109.hp1 others(38): Show HG01081.hp1 HG01891.hp2 HG02109.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03942.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp2 NA18957.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18983.hp2 NA18985.hp2 NA18988.hp1 NA18995.hp2 NA19001.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19085.hp1 NA19086.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0001c0008 a0001c0015 others(3): Show a0001c0003 a0001c0008 a0001c0015 a0002c0001 a0002c0005 a0005c0011	a0001c0003t0003 a0001c0008t0002 a0001c0008t0008 others(5): Show a0001c0003t0003 a0001c0008t0002 a0001c0008t0008 a0001c0015t0001 a0002c0001t0001 a0002c0005t0001 a0002c0005t0002 a0005c0011t0002	a0001c0003t0003g0105 a0001c0008t0002g0006 a0001c0008t0002g0089 others(36): Show a0001c0003t0003g0105 a0001c0008t0002g0006 a0001c0008t0002g0089 a0001c0008t0002g0090 a0001c0008t0002g0091 a0001c0008t0002g0214 a0001c0008t0002g0215 a0001c0008t0002g0216 a0001c0008t0002g0238 a0001c0008t0002g0240 a0001c0008t0002g0241 a0001c0008t0002g0242 a0001c0008t0002g0244 a0001c0008t0008g0243 a0001c0015t0001g0221 a0001c0015t0001g0225 a0002c0001t0001g0218 a0002c0005t0001g0233 a0002c0005t0001g0234 a0002c0005t0002g0088 a0002c0005t0002g0220 a0002c0005t0002g0222 a0002c0005t0002g0223 a0002c0005t0002g0224 a0002c0005t0002g0227 a0002c0005t0002g0228 a0002c0005t0002g0229 a0002c0005t0002g0230 a0002c0005t0002g0231 a0002c0005t0002g0232 a0002c0005t0002g0235 a0002c0005t0002g0236 a0002c0005t0002g0237 a0002c0005t0002g0239 a0002c0005t0002g0245 a0002c0005t0002g0250 a0002c0005t0002g0351 a0005c0011t0002g0005 a0005c0011t0002g0249	41	106	0.3868	-42	c.153 others(61): Show c.1535+1091_1535+1132delATATATATATATATATATATATATAT ATATATATATATATAT		SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPANXB1_chrX_140997594_141008706	141007572	ATTTGCAT others(35): Show ATTTGCATTCCAATACAATTTTCTGAATGTAAGAGAAAGAGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	298	0.0034	-42	c.39 others(53): Show c.3921_*3962delTTTGCATTCCAATACAATTTTCTGAATGTAAGAG AAAGAGAT		SPANXB1	ENSG00000227234.2	transcript	ENST00000449283.2	protein_coding					3867		chrX	TogoVar
SPATA22_chr17_3435019_3476819	3463921	CCCTCTCC others(35): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTGCCTCTCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02622.hp1 HG03195.hp2 others(7): Show HG01167.hp1 HG02622.hp1 HG03195.hp2 NA18906.hp2 NA18969.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19043.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0002c0008	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0002c0008t0001	a0001c0001t0001g0246 a0002c0002t0001g0047 a0002c0002t0001g0049 others(3): Show a0001c0001t0001g0246 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0005t0001g0019 a0002c0005t0001g0265 a0002c0008t0001g0264	10	418	0.0239	-42	c.173 others(59): Show c.173-1196_173-1155delCAGAGGGAGAGGCAGAGGGAGAGGGAGA GGGAGAGGGAGAGG		SPATA22	ENSG00000141255.13	transcript	ENST00000572969.6	protein_coding	3/8						chr17	TogoVar
SPATA6_chr1_48290373_48477204	48384325	GGAGGGAC others(35): Show GGAGGGACAGGGACAGGGACAGGGACAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0246 a0001c0001t0017g0246	1	283	0.0035	-42	c.909 others(57): Show c.909+942_909+983delTCCCTCTCCCTCTCCCTGTCCCTGTCCCTG TCCCTGTCCCTC		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384338	CAGGGACA others(35): Show CAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG01891.hp1 others(3): Show HG00639.hp2 HG01069.hp1 HG01891.hp1 HG02559.hp2 HG03225.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0016 a0001c0001t0018 a0001c0001t0007 a0001c0001t0016 a0001c0001t0018	a0001c0001t0007g0304 a0001c0001t0007g0308 a0001c0001t0007g0309 others(3): Show a0001c0001t0007g0304 a0001c0001t0007g0308 a0001c0001t0007g0309 a0001c0001t0016g0296 a0001c0001t0018g0315 a0001c0001t0018g0317	6	244	0.0246	-42	c.909 others(57): Show c.909+929_909+970delCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT GTCCCTGTCCCT		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPDYA_chr2_28805834_28855610	28819843	AAAAAAAA others(35): Show AAAAAAAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	308	0.0032	-42	c.294 others(57): Show c.294+739_294+780delAAAAAATATATATATATATATATATATATA TATATATATATA		SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE10_chr7_73099008_73160431	73156128	ACACACAC others(35): Show ACACACACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	215	0.0047	-42	c.-14 others(53): Show c.-1487_-1446delAGACAGACAGAGAGAGAGAGAGAGAGAGAGAGTG TGTGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					698		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156130	ACACACAC others(35): Show ACACACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 NA18945.hp1 HG00609.hp1 HG00621.hp2 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0099 a0001c0002t0001g0111 a0001c0002t0001g0064 a0001c0002t0001g0099 a0001c0002t0001g0111	3	214	0.0140	-42	c.-14 others(53): Show c.-1489_-1448delAGAGACAGACAGAGAGAGAGAGAGAGAGAGAGAG TGTGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					700		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156132	ACACACAC others(35): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0216 a0001c0005t0014g0216	1	207	0.0048	-42	c.-14 others(53): Show c.-1491_-1450delAGAGAGACAGACAGAGAGAGAGAGAGAGAGAGAG AGTGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					702		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(35): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG02602.hp2 HG02735.hp1 HG01515.hp1 HG02602.hp2 HG02735.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0010 a0001c0002 a0009c0010	a0001c0002t0001 a0009c0010t0001 a0001c0002t0001 a0009c0010t0001	a0001c0002t0001g0073 a0001c0002t0001g0082 a0009c0010t0001g0065 a0001c0002t0001g0073 a0001c0002t0001g0082 a0009c0010t0001g0065	3	172	0.0174	-42	c.-14 others(53): Show c.-1493_-1452delAGAGAGAGACAGACAGAGAGAGAGAGAGAGAGAG AGAGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(35): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	200	0.0050	-42	c.-14 others(53): Show c.-1495_-1454delAGAGAGAGAGACAGACAGAGAGAGAGAGAGAGAG AGAGAGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					706		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(35): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0005 a0001c0005t0005g0005	1	160	0.0063	-42	c.-14 others(53): Show c.-1497_-1456delAGAGAGAGAGAGACAGACAGAGAGAGAGAGAGAG AGAGAGAG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					708		chr7	TogoVar
SPDYE16_chr7_76526313_76548297	76541943	TAAGAGTG others(35): Show TAAGAGTGAGATTATCATGTACAAGAGTGAGATTATCACGTAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19240.hp2 HG02717.hp2 NA19240.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0012 a0007c0007t0012	a0007c0007t0012g0052 a0007c0007t0012g0053 a0007c0007t0012g0052 a0007c0007t0012g0053	2	171	0.0117	-42	c.-42 others(58): Show c.-421-105_-421-64delGTACGTGATAATCTCACTCTTGTACATGA TAATCTCACTCTT		SPDYE16	ENSG00000185040.14	transcript	ENST00000633306.2	protein_coding	1/8						chr7	TogoVar
SPDYE21_chr7_67271941_67294005	67278118	TCTCTTGT others(35): Show TCTCTTGTACATGATAATCTCACTCTTGCACATGATAATCTCA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18906.hp2 NA21309.hp1 HG02647.hp1 NA18906.hp2 NA21309.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0003 a0010c0012t0004 a0001c0001t0003 a0010c0012t0004	a0001c0001t0003g0119 a0010c0012t0004g0056 a0001c0001t0003g0119 a0010c0012t0004g0056	3	437	0.0069	-42	c.-42 others(58): Show c.-422-105_-422-64delGCACATGATAATCTCACTCTTGTACATGA TAATCTCACTCTT		SPDYE21	ENSG00000230358.6	transcript	ENST00000424157.4	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar

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