Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RC3H1_chr1_173926084_174027357	173936744	TATATATA others(8): Show TATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG03453.hp1 NA18906.hp1 others(1): Show HG02572.hp1 HG03453.hp1 NA18906.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0016 a0003c0008t0016 a0001c0001t0016 a0003c0008t0016	a0001c0001t0016g0081 a0001c0001t0016g0082 a0003c0008t0016g0077 others(1): Show a0001c0001t0016g0081 a0001c0001t0016g0082 a0003c0008t0016g0077 a0003c0008t0016g0223	4	310	0.0129	-15	c.19 others(26): Show c.1962_*1976delTATATATATATATAT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	20/20	1962		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173936747	ATATATAT others(8): Show ATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02109.hp1 others(5): Show HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02615.hp2 HG03098.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0001t0064 a0001c0001t0065 others(4): Show a0001c0001t0026 a0001c0001t0064 a0001c0001t0065 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0002t0084	a0001c0001t0026g0094 a0001c0001t0026g0095 a0001c0001t0064g0293 others(5): Show a0001c0001t0026g0094 a0001c0001t0026g0095 a0001c0001t0064g0293 a0001c0001t0065g0282 a0001c0001t0078g0076 a0001c0001t0079g0092 a0001c0001t0080g0080 a0001c0002t0084g0217	8	310	0.0258	-15	c.19 others(26): Show c.1959_*1973delATATATATATATATA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	20/20	1959		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173936749	ATATATAT others(8): Show ATATATATATATATTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG02083.hp1 HG02818.hp2 HG00323.hp2 HG02083.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069	a0001c0001t0067g0252 a0001c0001t0068g0258 a0001c0001t0069g0280 a0001c0001t0067g0252 a0001c0001t0068g0258 a0001c0001t0069g0280	3	310	0.0097	-15	c.19 others(26): Show c.1957_*1971delAAATATATATATATA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	20/20	1957		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173936751	ATATATAT others(8): Show ATATATATATATTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01123.hp1 others(45): Show HG00544.hp2 HG00609.hp2 HG01123.hp1 HG01256.hp1 HG01258.hp1 HG02055.hp1 HG02293.hp2 HG02523.hp2 HG02965.hp1 HG02976.hp1 HG03710.hp2 HG04228.hp2 NA18612.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18960.hp2 NA18971.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0001 a0001c0006 a0009c0018 others(1): Show a0001c0001 a0001c0006 a0009c0018 a0011c0012	a0001c0001t0001 a0001c0001t0027 a0001c0001t0028 others(8): Show a0001c0001t0001 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0052 a0001c0001t0059 a0001c0001t0072 a0001c0001t0073 a0001c0006t0001 a0009c0018t0001 a0011c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0229 a0001c0001t0001g0230 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0295 a0001c0001t0027g0236 a0001c0001t0027g0248 a0001c0001t0028g0265 a0001c0001t0028g0275 a0001c0001t0031g0074 a0001c0001t0031g0075 a0001c0001t0052g0245 a0001c0001t0059g0255 a0001c0001t0072g0222 a0001c0001t0073g0256 a0001c0006t0001g0241 a0001c0006t0001g0261 a0009c0018t0001g0244 a0011c0012t0001g0249	48	310	0.1548	-15	c.19 others(26): Show c.1955_*1969delAAAAATATATATATA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	20/20	1955		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173993000	CAATTCAC others(8): Show CAATTCACGAACACAA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0180 a0001c0001t0053g0180	1	310	0.0032	-15	c.-30 others(22): Show c.-30_-16delTTGTGTTCGTGAATT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	2/20	16		chr1	TogoVar
RC3H2_chr9_122839556_122910359	122868881	GTGTGTGT others(8): Show GTGTGTGTGTATGTGT	G G	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	320	0.0031	-15	c.132 others(34): Show c.1326-3239_1326-3225delACACATACACACACA	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCAN1_chr21_34511442_34620113	34530616	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02055.hp1 HG02280.hp1 others(4): Show HG01106.hp2 HG02055.hp1 HG02280.hp1 HG02895.hp2 HG02897.hp2 HG03579.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0092 a0001c0001t0005g0093 others(4): Show a0001c0001t0005g0031 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0211 a0001c0001t0005g0340	7	378	0.0185	-15	c.253 others(32): Show c.253-6921_253-6907delAAAAAAAAAAAAAAA	RCAN1	ENSG00000159200.18	transcript	ENST00000313806.9	protein_coding	1/3			chr21	TogoVar
RCAN3_chr1_24497836_24546040	24502254	AGGAGGGG others(8): Show AGGAGGGGAGGGGATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(85): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA18985.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp2 NA19043.hp2 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19088.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(14): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0022 a0001c0002t0032 a0001c0003t0003 a0001c0003t0015 a0001c0003t0019 a0001c0003t0033 a0001c0006t0026 a0001c0006t0028 a0003c0005t0003	a0001c0001t0002g0024 a0001c0001t0002g0105 a0001c0001t0002g0137 others(76): Show a0001c0001t0002g0024 a0001c0001t0002g0105 a0001c0001t0002g0137 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0012g0038 a0001c0001t0034g0014 a0001c0001t0035g0014 a0001c0002t0001g0004 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0090 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0006g0004 a0001c0002t0006g0015 a0001c0002t0006g0092 a0001c0002t0006g0179 a0001c0002t0006g0200 a0001c0002t0006g0209 a0001c0002t0008g0009 a0001c0002t0022g0103 a0001c0002t0022g0203 a0001c0002t0032g0197 a0001c0003t0003g0035 a0001c0003t0003g0036 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0060 a0001c0003t0003g0093 a0001c0003t0003g0094 a0001c0003t0003g0095 a0001c0003t0003g0096 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0003g0190 a0001c0003t0003g0192 a0001c0003t0003g0193 a0001c0003t0003g0206 a0001c0003t0003g0208 a0001c0003t0015g0188 a0001c0003t0015g0189 a0001c0003t0019g0056 a0001c0003t0019g0191 a0001c0003t0033g0205 a0001c0006t0026g0049 a0001c0006t0028g0091 a0003c0005t0003g0097 a0003c0005t0003g0194 a0003c0005t0003g0195	88	332	0.2651	-15	c.-95 others(24): Show c.-955_-941delGGAGGGGAGGGGATG	RCAN3	ENSG00000117602.13	transcript	ENST00000374395.9	protein_coding		581		chr1	TogoVar
RCAN3_chr1_24497836_24546040	24503301	GCGCGACC others(8): Show GCGCGACCTCGCCTCC	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19011.hp1 NA18981.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0146 a0001c0002t0001g0072 a0001c0002t0001g0146	2	332	0.0060	-15	c.-60 others(30): Show c.-60+170_-60+184delGACCTCGCCTCCCGC	RCAN3	ENSG00000117602.13	transcript	ENST00000374395.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCBTB1_chr13_49526946_49590558	49533070	AAAAGTGA others(8): Show AAAAGTGAAAGATGAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(178): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0008	a0001c0001 a0001c0004 a0001c0009 others(9): Show a0001c0001 a0001c0004 a0001c0009 a0001c0018 a0002c0002 a0002c0003 a0002c0006 a0002c0008 a0003c0020 a0005c0017 a0006c0016 a0008c0019	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0004t0001 a0001c0009t0001 a0001c0018t0001 a0002c0002t0001 a0002c0002t0008 a0002c0003t0001 a0002c0006t0007 a0002c0008t0008 a0003c0020t0001 a0005c0017t0016 a0006c0016t0001 a0008c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 others(170): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0334 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0367 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0375 a0001c0001t0001g0376 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0001g0395 a0001c0001t0001g0396 a0001c0001t0001g0399 a0001c0001t0001g0401 a0001c0001t0005g0013 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0005g0081 a0001c0001t0005g0118 a0001c0001t0005g0333 a0001c0001t0005g0335 a0001c0001t0005g0340 a0001c0001t0005g0348 a0001c0001t0005g0365 a0001c0001t0005g0372 a0001c0001t0005g0381 a0001c0001t0007g0003 a0001c0001t0007g0030 a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0038 a0001c0001t0007g0352 a0001c0001t0007g0359 a0001c0001t0007g0398 a0001c0001t0008g0320 a0001c0001t0008g0321 a0001c0001t0008g0358 a0001c0001t0013g0311 a0001c0001t0014g0308 a0001c0004t0001g0281 a0001c0009t0001g0101 a0001c0009t0001g0126 a0001c0009t0001g0131 a0001c0018t0001g0342 a0002c0002t0001g0054 a0002c0002t0001g0176 a0002c0002t0008g0053 a0002c0002t0008g0063 a0002c0003t0001g0241 a0002c0003t0001g0264 a0002c0006t0007g0283 a0002c0008t0008g0076 a0002c0008t0008g0105 a0002c0008t0008g0106 a0002c0008t0008g0107 a0002c0008t0008g0154 a0003c0020t0001g0318 a0005c0017t0016g0080 a0006c0016t0001g0022 a0008c0019t0001g0397	181	418	0.4330	-15	c.10 others(26): Show c.1037_*1051delATCATCTTTCACTTT	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	13/13	1037		chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48496790	AGAGGGGA others(8): Show AGAGGGGAGGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03516.hp2 HG02818.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0050 a0001c0001t0002g0051	2	320	0.0063	-15	c.138 others(32): Show c.1385-484_1385-470delCTCTCCCCTCCCCTC	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	13/14			chr13	TogoVar
RCC1_chr1_28501043_28543989	28512419	ATGTAAAC others(8): Show ATGTAAACTCAGTACT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG01891.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0279 a0001c0002t0002g0280	2	294	0.0068	-15	c.-15 others(34): Show c.-153+3516_-153+3530delGTAAACTCAGTACTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCC1_chr1_28501043_28543989	28533845	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01943.hp1 others(2): Show HG00673.hp1 HG01081.hp1 HG01943.hp1 NA18979.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0149 a0001c0001t0001g0183 a0001c0001t0001g0192	5	294	0.0170	-15	c.442 others(32): Show c.442-1169_442-1155delTTTTTTTTTTTTTTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487554	AATATATT others(8): Show AATATATTCATAATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0045 a0001c0001t0018g0045	1	406	0.0025	-15	c.657 others(32): Show c.657+3012_657+3026delATATTATGAATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487602	CATATATA others(8): Show CATATATATTCATAAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00733.hp2 others(25): Show HG00597.hp1 HG00639.hp1 HG00733.hp2 HG00735.hp1 HG01123.hp1 HG01928.hp2 HG02083.hp2 HG02257.hp2 HG02300.hp2 HG02523.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03225.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18951.hp1 NA18959.hp2 NA18960.hp2 NA18973.hp1 NA18999.hp1 NA19054.hp2 NA19058.hp2 NA19080.hp2 NA19081.hp2 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0004 a0001c0001t0031	a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0004g0027 others(16): Show a0001c0001t0004g0004 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0111 a0001c0001t0004g0138 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0282 a0001c0001t0031g0284	28	406	0.0690	-15	c.657 others(32): Show c.657+2964_657+2978delATTATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75492696	ACATAACA others(8): Show ACATAACAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	406	0.0025	-15	c.406 others(30): Show c.406-778_406-764delGTTTTTTTTGTTATG	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	4/8			chr4	TogoVar
RCN2_chr15_76926749_76959393	76953576	TATATATA others(8): Show TATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0056 a0001c0001t0075g0056	1	422	0.0024	-15	c.43 others(26): Show c.4355_*4369delATATATATATATATA	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7	4355		chr15	TogoVar
RCN2_chr15_76926749_76959393	76953585	ATATATAT others(8): Show ATATATATATTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0113 a0001c0001t0143g0113	1	422	0.0024	-15	c.43 others(26): Show c.4365_*4379delATATATATTTTTTTT	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7	4365	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCOR1_chr14_102587649_102735561	102632611	ATCCTTTC others(8): Show ATCCTTTCCTTTCCTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02647.hp1 others(11): Show HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02970.hp1 HG03225.hp1 HG03486.hp1 NA18522.hp1 NA18955.hp1 NA18979.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0018 a0001c0001t0027	a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0221 others(11): Show a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0221 a0001c0001t0005g0059 a0001c0001t0005g0116 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0012g0152 a0001c0001t0012g0153 a0001c0001t0012g0154 a0001c0001t0018g0239 a0001c0001t0027g0099	14	292	0.0480	-15	c.361 others(34): Show c.361+39343_361+39357delCCTTTCCTTTCCTTT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102653968	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG01358.hp1 others(3): Show HG00735.hp1 HG01175.hp1 HG01358.hp1 HG02630.hp2 HG04204.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0024	a0001c0001t0001g0060 a0001c0001t0002g0206 a0001c0001t0002g0241 others(3): Show a0001c0001t0001g0060 a0001c0001t0002g0206 a0001c0001t0002g0241 a0001c0001t0003g0056 a0001c0001t0011g0047 a0001c0001t0024g0062	6	292	0.0206	-15	c.362 others(34): Show c.362-27924_362-27910delCTTTCTTTCTTTCTT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCSD1_chr1_167625232_167713696	167630721	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04184.hp2 HG04228.hp1 HG03239.hp2 HG04184.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0038 a0001c0001t0001 a0001c0001t0003 a0001c0001t0038	a0001c0001t0001g0344 a0001c0001t0003g0345 a0001c0001t0038g0343 a0001c0001t0001g0344 a0001c0001t0003g0345 a0001c0001t0038g0343	3	350	0.0086	-15	c.6+3 others(26): Show c.6+310_6+324delAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH11_chr14_67671800_67700764	67677363	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0177 a0001c0001t0030g0177	1	438	0.0023	-15	c.94 others(24): Show c.943_*957delAAAAAAAAAAAAAAA	RDH11	ENSG00000072042.13	transcript	ENST00000381346.9	protein_coding	7/7	943		chr14	TogoVar
RDH12_chr14_67696886_67739451	67712493	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp1 HG02486.hp2 others(15): Show HG01081.hp2 HG01891.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0051 a0001c0001t0001g0275 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319	18	434	0.0415	-15	c.-27 others(34): Show c.-274-8345_-274-8331delAAAAAAAAAAAAAAA	RDH12	ENSG00000139988.10	transcript	ENST00000551171.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
RDX_chr11_110224441_110301614	110290798	AAACAAGT others(8): Show AAACAAGTCAGCTACG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0099 a0001c0001t0007g0099	1	376	0.0027	-15	c.-65 others(32): Show c.-65+5654_-65+5668delCGTAGCTGACTTGTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RECK_chr9_36031913_36129455	36058749	CTAGAGGA others(8): Show CTAGAGGATAATAAGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02965.hp2 others(1): Show HG02559.hp1 HG02818.hp2 HG02965.hp2 HG03195.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0003 a0003c0006t0001 a0003c0006t0003	a0003c0006t0001g0387 a0003c0006t0003g0388 a0003c0006t0003g0389 others(1): Show a0003c0006t0001g0387 a0003c0006t0003g0388 a0003c0006t0003g0389 a0003c0006t0003g0390	4	392	0.0102	-15	c.160 others(28): Show c.160-76_160-62delAGAGGATAATAAGTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36099224	TCAACAAC others(8): Show TCAACAACAACAACAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp1 HG02109.hp2 others(3): Show HG01167.hp2 HG01891.hp1 HG02109.hp2 HG02809.hp2 HG03195.hp1 HG03471.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0007 a0003c0006 others(1): Show a0001c0001 a0001c0007 a0003c0006 a0007c0009	a0001c0001t0001 a0001c0007t0001 a0003c0006t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0003c0006t0001 a0007c0009t0001	a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0344 others(3): Show a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0344 a0001c0007t0001g0355 a0003c0006t0001g0387 a0007c0009t0001g0365	6	392	0.0153	-15	c.108 others(34): Show c.1086-1074_1086-1060delACAACAACAACAACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36103634	GGATTTGT others(8): Show GGATTTGTAGCTGGTA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	392	0.0026	-15	c.143 others(34): Show c.1435+1436_1435+1450delATTTGTAGCTGGTAG	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36104316	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0387 a0003c0006t0001g0387	1	392	0.0026	-15	c.143 others(32): Show c.1436-825_1436-811delATATATATATTTTTT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	12/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECQL_chr12_21463910_21506635	21501530	CGATCTCC others(8): Show CGATCTCCGACTCTCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG02976.hp1 others(3): Show HG02145.hp1 HG02630.hp2 HG02976.hp1 HG03516.hp1 HG03579.hp1 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0002c0004 a0006c0008 a0001c0002 a0002c0004 a0006c0008	a0001c0002t0053 a0002c0004t0012 a0006c0008t0012 a0001c0002t0053 a0002c0004t0012 a0006c0008t0012	a0001c0002t0053g0260 a0002c0004t0012g0256 a0002c0004t0012g0257 others(3): Show a0001c0002t0053g0260 a0002c0004t0012g0256 a0002c0004t0012g0257 a0002c0004t0012g0258 a0002c0004t0012g0261 a0006c0008t0012g0259	6	404	0.0149	-15	c.-42 others(24): Show c.-421_-407delCGAGAGTCGGAGATC	RECQL	ENSG00000004700.16	transcript	ENST00000444129.7	protein_coding	1/15	1961		chr12	TogoVar
REELD1_chr4_146209538_146237267	146214921	GGTGGGAG others(8): Show GGTGGGAGGTGGGGCT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp2 others(85): Show HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp2 HG02300.hp1 HG02602.hp2 HG02698.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04204.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19074.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19091.hp2 NA20805.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0006 a0008 a0016 a0020	a0002c0002 a0002c0036 a0003c0006 others(8): Show a0002c0002 a0002c0036 a0003c0006 a0005c0005 a0005c0016 a0006c0007 a0006c0038 a0008c0011 a0008c0037 a0016c0020 a0020c0035	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(19): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0012 a0002c0036t0001 a0003c0006t0003 a0005c0005t0001 a0005c0005t0004 a0005c0005t0005 a0005c0005t0037 a0005c0016t0001 a0006c0007t0001 a0006c0007t0006 a0006c0007t0009 a0006c0038t0009 a0008c0011t0001 a0008c0011t0031 a0008c0037t0001 a0016c0020t0001 a0020c0035t0008	a0002c0002t0001g0004 a0002c0002t0001g0016 a0002c0002t0002g0004 others(47): Show a0002c0002t0001g0004 a0002c0002t0001g0016 a0002c0002t0002g0004 a0002c0002t0003g0004 a0002c0002t0003g0009 a0002c0002t0003g0016 a0002c0002t0003g0034 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0063 a0002c0002t0003g0068 a0002c0002t0004g0004 a0002c0002t0004g0009 a0002c0002t0004g0016 a0002c0002t0004g0046 a0002c0002t0007g0009 a0002c0002t0012g0004 a0002c0036t0001g0009 a0003c0006t0003g0004 a0005c0005t0001g0003 a0005c0005t0001g0029 a0005c0005t0001g0032 a0005c0005t0001g0049 a0005c0005t0001g0050 a0005c0005t0001g0051 a0005c0005t0004g0029 a0005c0005t0004g0045 a0005c0005t0005g0053 a0005c0005t0037g0003 a0005c0016t0001g0052 a0005c0016t0001g0060 a0005c0016t0001g0061 a0005c0016t0001g0062 a0006c0007t0001g0031 a0006c0007t0001g0047 a0006c0007t0001g0054 a0006c0007t0006g0030 a0006c0007t0006g0048 a0006c0007t0009g0003 a0006c0007t0009g0032 a0006c0007t0009g0059 a0006c0038t0009g0003 a0008c0011t0001g0011 a0008c0011t0031g0011 a0008c0037t0001g0011 a0016c0020t0001g0009 a0016c0020t0001g0033 a0020c0035t0008g0064	88	434	0.2028	-15	c.-13 others(32): Show c.-134-150_-134-136delGAGGTGGGGCTGTGG	REELD1	ENSG00000250673.3	transcript	ENST00000623665.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
REEP1_chr2_86208993_86342626	86215023	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0051 a0001c0001t0046g0051	1	320	0.0031	-15	c.20 others(26): Show c.2001_*2015delAAAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	9/9	2001		chr2	TogoVar
REEP3_chr10_63516401_63630128	63556569	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00609.hp2 others(128): Show HG00140.hp2 HG00280.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19068.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0001t0077 a0002c0002t0031 a0002c0002t0066	a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0064 others(126): Show a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0096 a0001c0001t0001g0118 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0245 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0124 a0001c0001t0002g0239 a0001c0001t0002g0244 a0001c0001t0003g0049 a0001c0001t0003g0097 a0001c0001t0003g0213 a0001c0001t0004g0040 a0001c0001t0005g0059 a0001c0001t0005g0106 a0001c0001t0005g0117 a0001c0001t0006g0030 a0001c0001t0006g0061 a0001c0001t0007g0039 a0001c0001t0007g0211 a0001c0001t0007g0216 a0001c0001t0007g0218 a0001c0001t0007g0221 a0001c0001t0007g0222 a0001c0001t0007g0226 a0001c0001t0007g0271 a0001c0001t0008g0019 a0001c0001t0008g0094 a0001c0001t0008g0108 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0008g0116 a0001c0001t0008g0119 a0001c0001t0010g0087 a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0102 a0001c0001t0010g0103 a0001c0001t0011g0217 a0001c0001t0012g0003 a0001c0001t0012g0046 a0001c0001t0012g0075 a0001c0001t0012g0246 a0001c0001t0013g0104 a0001c0001t0013g0107 a0001c0001t0013g0112 a0001c0001t0013g0114 a0001c0001t0015g0071 a0001c0001t0016g0035 a0001c0001t0016g0065 a0001c0001t0016g0125 a0001c0001t0017g0084 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0020g0047 a0001c0001t0021g0007 a0001c0001t0022g0209 a0001c0001t0022g0219 a0001c0001t0023g0105 a0001c0001t0024g0123 a0001c0001t0025g0020 a0001c0001t0025g0022 a0001c0001t0026g0003 a0001c0001t0026g0028 a0001c0001t0027g0095 a0001c0001t0028g0093 a0001c0001t0030g0278 a0001c0001t0030g0279 a0001c0001t0031g0089 a0001c0001t0032g0099 a0001c0001t0032g0115 a0001c0001t0036g0220 a0001c0001t0039g0079 a0001c0001t0040g0060 a0001c0001t0045g0214 a0001c0001t0046g0126 a0001c0001t0047g0223 a0001c0001t0049g0212 a0001c0001t0050g0210 a0001c0001t0051g0229 a0001c0001t0053g0066 a0001c0001t0054g0113 a0001c0001t0055g0078 a0001c0001t0056g0083 a0001c0001t0058g0215 a0001c0001t0059g0034 a0001c0001t0060g0063 a0001c0001t0062g0270 a0001c0001t0064g0080 a0001c0001t0067g0082 a0001c0001t0068g0091 a0001c0001t0071g0088 a0001c0001t0077g0098 a0002c0002t0031g0120 a0002c0002t0066g0121	131	284	0.4613	-15	c.33- others(30): Show c.33-9749_33-9735delGTTTTGTTTTGTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REG4_chr1_119789017_119816460	119805592	CTTCTCTT others(8): Show CTTCTCTTTCTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0142 a0003c0004t0002g0142	1	462	0.0022	-15	c.68- others(30): Show c.68-2442_68-2428delAGGGGAGAAAGAGAA	REG4	ENSG00000134193.15	transcript	ENST00000256585.10	protein_coding	2/5			chr1	TogoVar
RELA_chr11_65648601_65667916	65664328	CTGTATTG others(8): Show CTGTATTGTATTGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(130): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18975.hp2 NA18982.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19006.hp2 NA19009.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19076.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(33): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0003g0008 a0001c0001t0004g0009 a0001c0001t0004g0046 a0001c0001t0009g0049 a0001c0001t0010g0058 a0001c0001t0013g0050 a0001c0001t0014g0052 a0001c0002t0002g0063 a0002c0003t0001g0025	133	404	0.3292	-15	c.-15 others(26): Show c.-1511_-1497delATACAATACAATACA	RELA	ENSG00000173039.20	transcript	ENST00000406246.8	protein_coding		1413		chr11	TogoVar
RELB_chr19_44996464_45043192	45039355	TCAAAAAA others(8): Show TCAAAAAAAAAAACAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02486.hp2 others(3): Show HG01884.hp2 HG02257.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0204 a0001c0001t0001g0240 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0204 a0001c0001t0001g0240 a0001c0001t0001g0275 a0001c0001t0001g0317 a0001c0001t0001g0379	6	382	0.0157	-15	c.15 others(26): Show c.1566_*1580delCAAAAAAAAAAACAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding		1164		chr19	TogoVar
RELCH_chr18_62182255_62315249	62200964	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0142 a0001c0001t0036g0142	1	340	0.0029	-15	c.527 others(34): Show c.527-10176_527-10162delTTTTTTTTTTTTTTT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELL1_chr4_37605634_37691376	37612324	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0093 a0001c0001t0074g0093	1	324	0.0031	-15	c.10 others(26): Show c.1007_*1021delGTTTTTTTTTTTTTT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	7/7	19049		chr4	TogoVar
RELL1_chr4_37605634_37691376	37612334	AAAAACAA others(8): Show AAAAACAAAAAAAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 HG02257.hp2 HG02809.hp2 others(4): Show HG01168.hp2 HG02257.hp2 HG02809.hp2 HG03471.hp2 HG03540.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0061 a0001c0001t0062 a0001c0002t0011 others(1): Show a0001c0001t0061 a0001c0001t0062 a0001c0002t0011 a0001c0002t0051	a0001c0001t0061g0050 a0001c0001t0062g0048 a0001c0002t0011g0001 others(3): Show a0001c0001t0061g0050 a0001c0001t0062g0048 a0001c0002t0011g0001 a0001c0002t0011g0065 a0001c0002t0011g0067 a0001c0002t0051g0066	7	324	0.0216	-15	c.99 others(25): Show c.997_*1011delGTTTTTTTTTGTTTT	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	7/7	19039		chr4	TogoVar
RELL1_chr4_37605634_37691376	37678122	AGAGGAGC others(8): Show AGAGGAGCAGGCACAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02723.hp2 others(3): Show HG02055.hp1 HG02451.hp2 HG02723.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0008 a0001c0001t0037 others(3): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0037 a0001c0001t0048 a0001c0001t0049 a0001c0003t0019	a0001c0001t0005g0253 a0001c0001t0008g0257 a0001c0001t0037g0254 others(3): Show a0001c0001t0005g0253 a0001c0001t0008g0257 a0001c0001t0037g0254 a0001c0001t0048g0256 a0001c0001t0049g0255 a0001c0003t0019g0250	6	324	0.0185	-15	c.88+ others(30): Show c.88+8063_88+8077delATGTGCCTGCTCCTC	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELN_chr7_103466789_103994658	103544220	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19076.hp2 HG02970.hp1 NA19076.hp2	a0001 a0037 a0001 a0037	a0001c0001 a0037c0028 a0001c0001 a0037c0028	a0001c0001t0013 a0037c0028t0001 a0001c0001t0013 a0037c0028t0001	a0001c0001t0013g0164 a0037c0028t0001g0042 a0001c0001t0013g0164 a0037c0028t0001g0042	2	184	0.0109	-15	c.652 others(32): Show c.6523+889_6523+903delAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	42/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103695007	CTCCAAAA others(8): Show CTCCAAAAACTAAAAG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0061 a0001c0043t0001g0061	1	184	0.0054	-15	c.114 others(34): Show c.1143+2831_1143+2845delCTTTTAGTTTTTGGA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	10/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103759990	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01071.hp1 others(31): Show HG00558.hp1 HG00738.hp1 HG01071.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01891.hp1 HG01928.hp1 HG02132.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02809.hp2 HG03471.hp1 HG03579.hp1 HG03669.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18964.hp2 NA18969.hp2 NA18979.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp1 NA19010.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19080.hp1 NA19085.hp1 NA20300.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0028 a0030 a0031 a0032	a0001c0001 a0001c0002 a0001c0004 others(26): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0041 a0001c0044 a0001c0050 a0002c0009 a0002c0014 a0002c0015 a0002c0021 a0002c0060 a0003c0016 a0004c0017 a0005c0081 a0006c0013 a0007c0012 a0008c0058 a0010c0063 a0028c0032 a0030c0077 a0031c0053 a0032c0055	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0006t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0004 a0001c0008t0001 a0001c0018t0001 a0001c0019t0002 a0001c0022t0001 a0001c0023t0001 a0001c0041t0001 a0001c0044t0016 a0001c0050t0002 a0002c0009t0001 a0002c0014t0001 a0002c0015t0002 a0002c0021t0001 a0002c0060t0001 a0003c0016t0001 a0004c0017t0001 a0005c0081t0001 a0006c0013t0001 a0007c0012t0002 a0008c0058t0002 a0010c0063t0001 a0028c0032t0001 a0030c0077t0001 a0031c0053t0001 a0032c0055t0001	a0001c0001t0001g0073 a0001c0001t0002g0010 a0001c0002t0001g0094 others(31): Show a0001c0001t0001g0073 a0001c0001t0002g0010 a0001c0002t0001g0094 a0001c0004t0001g0100 a0001c0006t0002g0027 a0001c0006t0003g0176 a0001c0007t0001g0080 a0001c0007t0004g0158 a0001c0008t0001g0138 a0001c0018t0001g0059 a0001c0019t0002g0011 a0001c0022t0001g0102 a0001c0023t0001g0134 a0001c0041t0001g0075 a0001c0044t0016g0035 a0001c0050t0002g0003 a0002c0009t0001g0131 a0002c0014t0001g0064 a0002c0014t0001g0088 a0002c0014t0001g0143 a0002c0015t0002g0013 a0002c0021t0001g0113 a0002c0060t0001g0067 a0003c0016t0001g0135 a0004c0017t0001g0122 a0005c0081t0001g0157 a0006c0013t0001g0126 a0007c0012t0002g0006 a0008c0058t0002g0020 a0010c0063t0001g0063 a0028c0032t0001g0076 a0030c0077t0001g0048 a0031c0053t0001g0104 a0032c0055t0001g0079	34	184	0.1848	-15	c.545 others(32): Show c.545-6791_545-6777delAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103796894	AGAAAGAA others(8): Show AGAAAGAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0015 a0015	a0015c0071 a0015c0071	a0015c0071t0001 a0015c0071t0001	a0015c0071t0001g0108 a0015c0071t0001g0108	1	184	0.0054	-15	c.474 others(34): Show c.474-20282_474-20268delCTTTTTCTTTCTTTC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103909744	AATATATA others(8): Show AATATATATATTAAAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0033 a0033	a0033c0085 a0033c0085	a0033c0085t0006 a0033c0085t0006	a0033c0085t0006g0151 a0033c0085t0006g0151	1	184	0.0054	-15	c.337 others(32): Show c.337+7316_337+7330delATTTAATATATATAT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
REPS1_chr6_138898493_138993253	138978365	TCTGACCT others(8): Show TCTGACCTCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp2 HG01891.hp2 others(11): Show HG01106.hp2 HG01243.hp2 HG01891.hp2 HG02109.hp1 HG02615.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp2 NA20129.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0009 a0004c0006t0001 a0001c0001t0001 a0001c0001t0009 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0133 a0001c0001t0001g0134 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0289 a0001c0001t0009g0162 a0001c0001t0009g0163 a0004c0006t0001g0135 a0004c0006t0001g0290	14	390	0.0359	-15	c.153 others(32): Show c.153+9150_153+9164delGGAGGCAGAGGTCAG	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	16946732	TGGTGGTG others(8): Show TGGTGGTGGCGGCGGC	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0030 a0001c0001t0013g0030	1	166	0.0060	-15	c.-11 others(23): Show c.-112_-98delTGGTGGCGGCGGCGG	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/18	98	INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	16951545	ACACACAC others(8): Show ACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18977.hp1 NA19000.hp1 others(3): Show NA18965.hp1 NA18977.hp1 NA19000.hp1 NA19012.hp1 NA19068.hp1 NA19072.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0005 a0001c0001 a0008c0005	a0001c0001t0001 a0001c0001t0021 a0008c0005t0024 a0001c0001t0001 a0001c0001t0021 a0008c0005t0024	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 others(3): Show a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0021g0151 a0008c0005t0024g0148	6	166	0.0361	-15	c.273 others(32): Show c.273+4413_273+4427delACACACACACACACC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	16951547	ACACACAC others(8): Show ACACACACACACACCC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	166	0.0060	-15	c.273 others(32): Show c.273+4415_273+4429delACACACACACACCCC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17102068	GTTATGTT others(8): Show GTTATGTTATGTTATT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01934.hp1 HG02886.hp2 others(5): Show HG00609.hp1 HG01934.hp1 HG02886.hp2 HG02965.hp1 HG03831.hp1 NA19012.hp1 NA19030.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0021 a0001c0001t0025	a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0006g0132 a0001c0001t0021g0151 a0001c0001t0025g0024	8	166	0.0482	-15	c.151 others(34): Show c.1517-1645_1517-1631delGTTATGTTATTTTAT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17140735	ATATTATT others(8): Show ATATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02723.hp2 HG03139.hp1 others(3): Show HG01106.hp1 HG02723.hp2 HG03139.hp1 NA18522.hp1 NA18998.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0144 a0001c0001t0002g0129 a0001c0001t0015g0019 a0001c0001t0016g0020	6	166	0.0361	-15	c.191 others(34): Show c.1914+1812_1914+1826delATTATTATTATTATT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	17/17		INFO_REALIGN_3_PRIME	chrX	TogoVar

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